CRISPR/Cas9-mediated correction of human genetic disease.

PubMed

Men, Ke; Duan, Xingmei; He, Zhiyao; Yang, Yang; Yao, Shaohua; Wei, Yuquan

2017-05-01

The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) protein 9 system (CRISPR/Cas9) provides a powerful tool for targeted genetic editing. Directed by programmable sequence-specific RNAs, this system introduces cleavage and double-stranded breaks at target sites precisely. Compared to previously developed targeted nucleases, the CRISPR/Cas9 system demonstrates several promising advantages, including simplicity, high specificity, and efficiency. Several broad genome-editing studies with the CRISPR/Cas9 system in different species in vivo and ex vivo have indicated its strong potential, raising hopes for therapeutic genome editing in clinical settings. Taking advantage of non-homologous end-joining (NHEJ) and homology directed repair (HDR)-mediated DNA repair, several studies have recently reported the use of CRISPR/Cas9 to successfully correct disease-causing alleles ranging from single base mutations to large insertions. In this review, we summarize and discuss recent preclinical studies involving the CRISPR/Cas9-mediated correction of human genetic diseases.

Current and future prospects for CRISPR-based tools in bacteria

PubMed Central

Luo, Michelle L.; Leenay, Ryan T.; Beisel, Chase L.

2015-01-01

CRISPR-Cas systems have rapidly transitioned from intriguing prokaryotic defense systems to powerful and versatile biomolecular tools. This article reviews how these systems have been translated into technologies to manipulate bacterial genetics, physiology, and communities. Recent applications in bacteria have centered on multiplexed genome editing, programmable gene regulation, and sequence-specific antimicrobials, while future applications can build on advances in eukaryotes, the rich natural diversity of CRISPR-Cas systems, and the untapped potential of CRISPR-based DNA acquisition. Overall, these systems have formed the basis of an ever-expanding genetic toolbox and hold tremendous potential for our future understanding and engineering of the bacterial world. PMID:26460902

Integrating genomic selection into dairy cattle breeding programmes: a review.

PubMed

Bouquet, A; Juga, J

2013-05-01

Extensive genetic progress has been achieved in dairy cattle populations on many traits of economic importance because of efficient breeding programmes. Success of these programmes has relied on progeny testing of the best young males to accurately assess their genetic merit and hence their potential for breeding. Over the last few years, the integration of dense genomic information into statistical tools used to make selection decisions, commonly referred to as genomic selection, has enabled gains in predicting accuracy of breeding values for young animals without own performance. The possibility to select animals at an early stage allows defining new breeding strategies aimed at boosting genetic progress while reducing costs. The first objective of this article was to review methods used to model and optimize breeding schemes integrating genomic selection and to discuss their relative advantages and limitations. The second objective was to summarize the main results and perspectives on the use of genomic selection in practical breeding schemes, on the basis of the example of dairy cattle populations. Two main designs of breeding programmes integrating genomic selection were studied in dairy cattle. Genomic selection can be used either for pre-selecting males to be progeny tested or for selecting males to be used as active sires in the population. The first option produces moderate genetic gains without changing the structure of breeding programmes. The second option leads to large genetic gains, up to double those of conventional schemes because of a major reduction in the mean generation interval, but it requires greater changes in breeding programme structure. The literature suggests that genomic selection becomes more attractive when it is coupled with embryo transfer technologies to further increase selection intensity on the dam-to-sire pathway. The use of genomic information also offers new opportunities to improve preservation of genetic variation. However, recent simulation studies have shown that putting constraints on genomic inbreeding rates for defining optimal contributions of breeding animals could significantly reduce achievable genetic gain. Finally, the article summarizes the potential of genomic selection to include new traits in the breeding goal to meet societal demands regarding animal health and environmental efficiency in animal production.

Evolution of eumetazoan nervous systems: insights from cnidarians.

PubMed

Kelava, Iva; Rentzsch, Fabian; Technau, Ulrich

2015-12-19

Cnidarians, the sister group to bilaterians, have a simple diffuse nervous system. This morphological simplicity and their phylogenetic position make them a crucial group in the study of the evolution of the nervous system. The development of their nervous systems is of particular interest, as by uncovering the genetic programme that underlies it, and comparing it with the bilaterian developmental programme, it is possible to make assumptions about the genes and processes involved in the development of ancestral nervous systems. Recent advances in sequencing methods, genetic interference techniques and transgenic technology have enabled us to get a first glimpse into the molecular network underlying the development of a cnidarian nervous system-in particular the nervous system of the anthozoan Nematostella vectensis. It appears that much of the genetic network of the nervous system development is partly conserved between cnidarians and bilaterians, with Wnt and bone morphogenetic protein (BMP) signalling, and Sox genes playing a crucial part in the differentiation of neurons. However, cnidarians possess some specific characteristics, and further studies are necessary to elucidate the full regulatory network. The work on cnidarian neurogenesis further accentuates the need to study non-model organisms in order to gain insights into processes that shaped present-day lineages during the course of evolution. © 2015 The Authors.

Scientists Grow Therapeutic Protein in Engineered Soya Bean Seeds to Prevent AIDS | Poster

Cancer.gov

Genetically modified soya beans provide a scalable, low-cost method of producing microbicides that prevent AIDS, a technique sustainable for resource-poor countries where AIDS is spreading rapidly. According to the Joint United Nations Programme on HIV/AIDS, more than 36 million people worldwide are living with HIV. While the number of AIDS-related deaths are decreasing, infection rates are still increasing, specifically in Eastern and Southern Africa.

Investigating the population structure and genetic differentiation of livestock guard dog breeds.

PubMed

Bigi, D; Marelli, S P; Liotta, L; Frattini, S; Talenti, A; Pagnacco, G; Polli, M; Crepaldi, P

2018-01-14

Livestock guarding dogs are a valuable adjunct to the pastoral community. Having been traditionally selected for their working ability, they fulfil their function with minimal interaction or command from their human owners. In this study, the population structure and the genetic differentiation of three Italian livestock guardian breeds (Sila's Dog, Maremma and Abruzzese Sheepdog and Mannara's Dog) and three functionally and physically similar breeds (Cane Corso, Central Asian Shepherd Dog and Caucasian Shepherd Dog), totalling 179 dogs unrelated at the second generation, were investigated with 18 autosomal microsatellite markers. Values for the number of alleles per locus, observed and expected heterozygosity, Hardy-Weinberg Equilibrium, F stats, Nei's and Reynold's genetic distances, clustering and sub-population formation abilities and individual genetic structures were calculated. Our results show clear breed differentiation, whereby all the considered breeds show reasonable genetic variability despite small population sizes and variable selection schemes. These results provide meaningful data to stakeholders in specific breed and environmental conservation programmes.

Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review.

PubMed

Saffi, Marwa; Howard, Natasha

2015-01-01

β-Thalassaemia is a common genetic blood disorder in the Middle Eastern region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are implemented in 8 Middle East countries to reduce at-risk marriages and thus disease prevalence. A scoping review was conducted to explore the effectiveness of these programmes. The 6-stage scoping framework of Arksey and O'Malley [Int J Soc Res Methodol 2005;8:19-32] was used. Reported outcomes were analysed per country, with success defined as achieving a 65% reduction in at-risk marriages and/or thalassaemia-affected births. Emergent enablers and barriers were analysed thematically. Twenty-one sources were included from the 1,348 identified, discussing 7 country programmes, with 95% (20/21) published during 2003-2013. Five publications each were included for Iran and Saudi Arabia, 3 for Turkey, 2 each for Bahrain and Iraq (Kurdistan), and 1 for the United Arab Emirates, plus 2 multi-country evaluations. No programme achieved a 65% at-risk marriage cancellation rate. Though data on thalassaemia-affected birth reductions were minimal, programmes in Iran, Turkey and Iraq reported at least 65% reductions. A thematic analysis found that screening timing, access to prenatal detection and abortion, socio-religious issues, awareness and counselling affected decisions. This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region. © 2015 S. Karger AG, Basel.

Genetic variants influencing effectiveness of exercise training programmes in obesity – an overview of human studies

PubMed Central

Ahmetov, II; Zmijewski, P

2016-01-01

Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary. PMID:27601774

Genetic variants influencing effectiveness of exercise training programmes in obesity - an overview of human studies.

PubMed

Leońska-Duniec, A; Ahmetov, I I; Zmijewski, P

2016-09-01

Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary.

Factors affecting commercial application of embryo technologies in dairy cattle in Europe--a modelling approach.

PubMed

van Arendonk, Johan A M; Bijma, Piter

2003-01-15

Reproductive techniques have a major impact on the structure of breeding programmes, the rate of genetic gain and dissemination of genetic gain in populations. This manuscript reviews the impact of reproductive technologies on the underlying components of genetic gain and inbreeding with special reference to the role of female reproductive technology. Evaluation of alternative breeding schemes should be based on genetic gain while constraining inbreeding. Optimum breeding schemes can be characterised by: decreased importance of sib information; increased accuracy at the expense of intensity; and a factorial mating strategy. If large-scale embryo cloning becomes feasible, this will have a small impact on the rate of genetic gain but will have a large impact on the structure of breeding programmes.

Current and future prospects for CRISPR-based tools in bacteria.

PubMed

Luo, Michelle L; Leenay, Ryan T; Beisel, Chase L

2016-05-01

CRISPR-Cas systems have rapidly transitioned from intriguing prokaryotic defense systems to powerful and versatile biomolecular tools. This article reviews how these systems have been translated into technologies to manipulate bacterial genetics, physiology, and communities. Recent applications in bacteria have centered on multiplexed genome editing, programmable gene regulation, and sequence-specific antimicrobials, while future applications can build on advances in eukaryotes, the rich natural diversity of CRISPR-Cas systems, and the untapped potential of CRISPR-based DNA acquisition. Overall, these systems have formed the basis of an ever-expanding genetic toolbox and hold tremendous potential for our future understanding and engineering of the bacterial world. © 2015 Wiley Periodicals, Inc.

Diversity in phenotypic and nutritional traits in vegetable amaranth (Amaranthus tricolor), a nutritionally underutilised crop.

PubMed

Shukla, Sudhir; Bhargava, Atul; Chatterjee, Avijeet; Pandey, Avinash Chandra; Mishra, Brij K

2010-01-15

Assessment of genetic diversity in a crop-breeding programme helps in the identification of diverse parental combinations to create segregating progenies with maximum genetic variability and facilitates introgression of desirable genes from diverse germplasm into the available genetic base. In the present study, 39 strains of vegetable amaranth (Amaranthus tricolor) were evaluated for eight morphological and seven quality traits for two test seasons to study the extent of genetic divergence among the strains. Multivariate analysis showed that the first four principal components contributed 67.55% of the variability. Cluster analysis grouped the strains into six clusters that displayed a wide range of diversity for most of the traits. Cluster analysis has proved to be an effective method in grouping strains that may facilitate effective management and utilisation in crop-breeding programmes. The diverse strains falling in different clusters were identified, which can be utilised in different hybridisation programmes to develop high-foliage-yielding varieties rich in nutritional components. Copyright (c) 2009 Society of Chemical Industry.

Integrating population genetics and conservation biology in the era of genomics.

PubMed

Ouborg, N Joop

2010-02-23

As one of the final activities of the ESF-CONGEN Networking programme, a conference entitled 'Integrating Population Genetics and Conservation Biology' was held at Trondheim, Norway, from 23 to 26 May 2009. Conference speakers and poster presenters gave a display of the state-of-the-art developments in the field of conservation genetics. Over the five-year running period of the successful ESF-CONGEN Networking programme, much progress has been made in theoretical approaches, basic research on inbreeding depression and other genetic processes associated with habitat fragmentation and conservation issues, and with applying principles of conservation genetics in the conservation of many species. Future perspectives were also discussed in the conference, and it was concluded that conservation genetics is evolving into conservation genomics, while at the same time basic and applied research on threatened species and populations from a population genetic point of view continues to be emphasized.

RNA Editing with CRISPR-Cas13

PubMed Central

Cox, David B.T.; Gootenberg, Jonathan S.; Abudayyeh, Omar O.; Franklin, Brian; Kellner, Max J.; Joung, Julia; Zhang, Feng

2017-01-01

Nucleic acid editing holds promise for treating genetic disease, particularly at the RNA level, where disease-relevant sequences can be rescued to yield functional protein products. Type VI CRISPR-Cas systems contain the programmable single-effector RNA-guided RNases Cas13. Here, we profile Type VI systems to engineer a Cas13 ortholog capable of robust knockdown and demonstrate RNA editing by using catalytically-inactive Cas13 (dCas13) to direct adenosine to inosine deaminase activity by ADAR2 to transcripts in mammalian cells. This system, referred to as RNA Editing for Programmable A to I Replacement (REPAIR), has no strict sequence constraints, can be used to edit full-length transcripts containing pathogenic mutations. We further engineer this system to create a high specificity variant, REPAIRv2, that is 919 times more specific than REPAIRv1 as well as minimize the system to ease viral delivery. REPAIR presents a promising RNA editing platform with broad applicability for research, therapeutics, and biotechnology. PMID:29070703

Genetic engineering of a temperate phage-based delivery system for CRISPR/Cas9 antimicrobials against Staphylococcus aureus

PubMed Central

Park, Joo Youn; Moon, Bo Youn; Park, Juw Won; Thornton, Justin A.; Park, Yong Ho; Seo, Keun Seok

2017-01-01

Discovery of clustered, regularly interspaced, short palindromic repeats and the Cas9 RNA-guided nuclease (CRISPR/Cas9) system provides a new opportunity to create programmable gene-specific antimicrobials that are far less likely to drive resistance than conventional antibiotics. However, the practical therapeutic use of CRISPR/Cas9 is still questionable due to current shortcomings in phage-based delivery systems such as inefficient delivery, narrow host range, and potential transfer of virulence genes by generalized transduction. In this study, we demonstrate genetic engineering strategies to overcome these shortcomings by integrating CRISPR/Cas9 system into a temperate phage genome, removing major virulence genes from the host chromosome, and expanding host specificity of the phage by complementing tail fiber protein. This significantly improved the efficacy and safety of CRISPR/Cas9 antimicrobials to therapeutic levels in both in vitro and in vivo assays. The genetic engineering tools and resources established in this study are expected to provide an efficacious and safe CRISPR/Cas9 antimicrobial, broadly applicable to Staphylococcus aureus. PMID:28322317

Genetic engineering of a temperate phage-based delivery system for CRISPR/Cas9 antimicrobials against Staphylococcus aureus.

PubMed

Park, Joo Youn; Moon, Bo Youn; Park, Juw Won; Thornton, Justin A; Park, Yong Ho; Seo, Keun Seok

2017-03-21

Discovery of clustered, regularly interspaced, short palindromic repeats and the Cas9 RNA-guided nuclease (CRISPR/Cas9) system provides a new opportunity to create programmable gene-specific antimicrobials that are far less likely to drive resistance than conventional antibiotics. However, the practical therapeutic use of CRISPR/Cas9 is still questionable due to current shortcomings in phage-based delivery systems such as inefficient delivery, narrow host range, and potential transfer of virulence genes by generalized transduction. In this study, we demonstrate genetic engineering strategies to overcome these shortcomings by integrating CRISPR/Cas9 system into a temperate phage genome, removing major virulence genes from the host chromosome, and expanding host specificity of the phage by complementing tail fiber protein. This significantly improved the efficacy and safety of CRISPR/Cas9 antimicrobials to therapeutic levels in both in vitro and in vivo assays. The genetic engineering tools and resources established in this study are expected to provide an efficacious and safe CRISPR/Cas9 antimicrobial, broadly applicable to Staphylococcus aureus.

Perceptions of genetic testing and genomic medicine among drug users.

PubMed

Perlman, David C; Gelpí-Acosta, Camila; Friedman, Samuel R; Jordan, Ashly E; Hagan, Holly

2015-01-01

Genetic testing will soon enter care for human immunodeficiency virus (HIV) and hepatitis C virus (HCV), and for addiction. There is a paucity of data on how to disseminate genetic testing into healthcare for marginalized populations. We explored drug users' perceptions of genetic testing. Six focus groups were conducted with 34 drug users recruited from syringe exchange programmes and an HIV clinic between May and June 2012. Individual interviews were conducted with participants reporting previous genetic testing. All participants expressed acceptance of genetic testing to improve care, but most had concerns regarding confidentiality and implications for law enforcement. Most expressed more comfort with genetic testing based on individual considerations rather than testing based on race/ethnicity. Participants expressed comfort with genetic testing in medical care rather than drug treatment settings and when specifically asked permission, with peer support, and given a clear rationale. Although participants understood the potential value of genetic testing, concerns regarding breaches in confidentiality and discrimination may reduce testing willingness. Safeguards against these risks, peer support, and testing in medical settings based on individual factors and with clear rationales provided may be critical in efforts to promote acceptance of genetic testing among drug users. Copyright © 2014 Elsevier B.V. All rights reserved.

The CRISPR-Cas system - from bacterial immunity to genome engineering.

PubMed

Czarnek, Maria; Bereta, Joanna

2016-09-01

Precise and efficient genome modifications present a great value in attempts to comprehend the roles of particular genes and other genetic elements in biological processes as well as in various pathologies. In recent years novel methods of genome modification known as genome editing, which utilize so called "programmable" nucleases, came into use. A true revolution in genome editing has been brought about by the introduction of the CRISP-Cas (clustered regularly interspaced short palindromic repeats-CRISPR associated) system, in which one of such nucleases, i.e. Cas9, plays a major role. This system is based on the elements of the bacterial and archaeal mechanism responsible for acquired immunity against phage infections and transfer of foreign genetic material. Microorganisms incorporate fragments of foreign DNA into CRISPR loci present in their genomes, which enables fast recognition and elimination of future infections. There are several types of CRISPR-Cas systems among prokaryotes but only elements of CRISPR type II are employed in genome engineering. CRISPR-Cas type II utilizes small RNA molecules (crRNA and tracrRNA) to precisely direct the effector nuclease - Cas9 - to a specific site in the genome, i.e. to the sequence complementary to crRNA. Cas9 may be used to: (i) introduce stable changes into genomes e.g. in the process of generation of knock-out and knock-in animals and cell lines, (ii) activate or silence the expression of a gene of interest, and (iii) visualize specific sites in genomes of living cells. The CRISPR-Cas-based tools have been successfully employed for generation of animal and cell models of a number of diseases, e.g. specific types of cancer. In the future, the genome editing by programmable nucleases may find wide application in medicine e.g. in the therapies of certain diseases of genetic origin and in the therapy of HIV-infected patients.

Therapeutic Genome Editing: Prospects and Challenges

PubMed Central

Cox, David Benjamin Turitz; Platt, Randall Jeffrey; Zhang, Feng

2015-01-01

Recent advances in the development of genome editing technologies based on programmable nucleases have significantly improved our ability to make precise changes in the genomes of eukaryotic cells. Genome editing is already broadening our ability to elucidate the contribution of genetics to disease by facilitating the creation of more accurate cellular and animal models of pathological processes. A particularly tantalizing application of programmable nucleases is the potential to directly correct genetic mutations in affected tissues and cells to treat diseases that are refractory to traditional therapies. Here we discuss current progress towards developing programmable nuclease-based therapies as well as future prospects and challenges. PMID:25654603

Comparison of strategies for substantiating freedom from scrapie in a sheep flock.

PubMed

Durand, Benoit; Martinez, Marie-José; Calavas, Didier; Ducrot, Christian

2009-04-30

The public health threat represented by a potential circulation of bovine spongiform encephalopathy agent in sheep population has led European animal health authorities to launch large screening and genetic selection programmes. If demonstrated, such a circulation would have dramatic economic consequences for sheep breeding sector. In this context, it is important to evaluate the feasibility of qualification procedures that would allow sheep breeders demonstrating their flock is free from scrapie. Classical approaches, based on surveys designed to detect disease presence, do not account for scrapie specificities: the genetic variations of susceptibility and the absence of live diagnostic test routinely available. Adapting these approaches leads to a paradoxical situation in which a greater amount of testing is needed to substantiate disease freedom in genetically resistant flocks than in susceptible flocks, whereas probability of disease freedom is a priori higher in the former than in the latter. The goal of this study was to propose, evaluate and compare several qualification strategies for demonstrating a flock is free from scrapie. A probabilistic framework was defined that accounts for scrapie specificities and allows solving the preceding paradox. Six qualification strategies were defined that combine genotyping data, diagnostic tests results and flock pedigree. These were compared in two types of simulated flocks: resistant and susceptible flocks. Two strategies allowed demonstrating disease freedom in several years, for the majority of simulated flocks: a strategy in which all the flock animals are genotyped, and a strategy in which only founders animals are genotyped, the flock pedigree being known. In both cases, diagnostic tests are performed on culled animals. The less costly strategy varied according to the genetic context (resistant or susceptible) and to the relative costs of a genotyping exam and of a diagnostic test. This work demonstrates that combining data sources allows substantiating a flock is free from scrapie within a reasonable time frame. Qualification schemes could thus be a useful tool for voluntary or mandatory scrapie control programmes. However, there is no general strategy that would always minimize the costs and choice of the strategy should be adapted to local genetic conditions.

Programmable cells: Interfacing natural and engineered gene networks

NASA Astrophysics Data System (ADS)

Kobayashi, Hideki; Kærn, Mads; Araki, Michihiro; Chung, Kristy; Gardner, Timothy S.; Cantor, Charles R.; Collins, James J.

2004-06-01

Novel cellular behaviors and characteristics can be obtained by coupling engineered gene networks to the cell's natural regulatory circuitry through appropriately designed input and output interfaces. Here, we demonstrate how an engineered genetic circuit can be used to construct cells that respond to biological signals in a predetermined and programmable fashion. We employ a modular design strategy to create Escherichia coli strains where a genetic toggle switch is interfaced with: (i) the SOS signaling pathway responding to DNA damage, and (ii) a transgenic quorum sensing signaling pathway from Vibrio fischeri. The genetic toggle switch endows these strains with binary response dynamics and an epigenetic inheritance that supports a persistent phenotypic alteration in response to transient signals. These features are exploited to engineer cells that form biofilms in response to DNA-damaging agents and cells that activate protein synthesis when the cell population reaches a critical density. Our work represents a step toward the development of "plug-and-play" genetic circuitry that can be used to create cells with programmable behaviors. heterologous gene expression | synthetic biology | Escherichia coli

Species-specific responses to landscape fragmentation: implications for management strategies

PubMed Central

Blanchet, Simon; Rey, Olivier; Etienne, Roselyne; Lek, Sovan; Loot, Géraldine

2010-01-01

Habitat fragmentation affects the integrity of many species, but little is known about species-specific sensitivity to fragmentation. Here, we compared the genetic structure of four freshwater fish species differing in their body size (Leuciscus cephalus; Leuciscus leuciscus; Gobio gobio and Phoxinus phoxinus) between a fragmented and a continuous landscape. We tested if, overall, fragmentation affected the genetic structure of these fish species, and if these species differed in their sensitivity to fragmentation. Fragmentation negatively affected the genetic structure of these species. Indeed, irrespective of the species identity, allelic richness and heterozygosity were lower, and population divergence was higher in the fragmented than in the continuous landscape. This response to fragmentation was highly species-specific, with the smallest fish species (P. phoxinus) being slightly affected by fragmentation. On the contrary, fish species of intermediate body size (L. leuciscus and G. gobio) were highly affected, whereas the largest fish species (L. cephalus) was intermediately affected by fragmentation. We discuss the relative role of dispersal ability and effective population size on the responses to fragmentation we report here. The weirs studied here are of considerable historical importance. We therefore conclude that restoration programmes will need to consider both this societal context and the biological characteristics of the species sharing this ecosystem. PMID:25567925

Improvement of non-key traits in radiata pine breeding programme when long-term economic importance is uncertain.

PubMed

Li, Yongjun; Dungey, Heidi; Yanchuk, Alvin; Apiolaza, Luis A

2017-01-01

Diameter at breast height (DBH), wood density (DEN) and predicted modulus of elasticity (PME) are considered as 'key traits' (KT) in the improvement in radiata pine breeding programmes in New Zealand. Any other traits which are also of interest to radiata pine breeders and forest growers are called 'non-key traits' (NKTs). External resin bleeding (ERB), internal checking (IC), number of heartwood rings (NHR) are three such non-key traits which affect wood quality of radiata pine timber. Economic importance of the KTs and NKTs is hard to define in radiata pine breeding programmes due to long rotation period. Desired-gain index (DGIs) and robust selection were proposed to incorporate NKTs into radiata pine breeding programme in order to deal with the uncertainty of economic importance. Four desired-gain indices A-D were proposed in this study. The desired-gain index A (DGI-A) emphasized growth and led to small decrease in ERB and small increase in IC and NHR. The expected genetic gains of all traits in the desired-gain index B (DGI-B) were in the favourable directions (positive genetic gains in the key traits and negative genetic gains in the non-key traits). The desired-gain index C (DGI-C) placed emphasis on wood density, leading to favourable genetic gain in the NKTs but reduced genetic gains for DBH and PME. The desired-gain index D (DGI-D) exerted a bit more emphasis on the non-key traits, leading large favourable reduction in the non-key traits and lower increase in the key traits compared with the other DGIs. When selecting both the key traits and the non-key traits, the average EBVs of six traits were all in the same directions as the expected genetic gains except for DBH in the DGI-D. When the key traits were measured and selected, internal checking always had a negative (favourable) genetic gain but ERB and NHR had unfavourable genetic gain in the most of time. After removing some individuals with high sensitivity to the change of economic weights, robust desired-gain selection made genetic gains of all the key and non-key traits to move a little bit toward unfavourable directions in the four indices. It is concluded that desired-gain index combined with robust selection concept is an efficient way for selecting the key and non-key traits in radiata pine breeding programmes.

Programmable assembly of nanoarchitectures using genetically engineered viruses.

PubMed

Huang, Yu; Chiang, Chung-Yi; Lee, Soo Kwan; Gao, Yan; Hu, Evelyn L; De Yoreo, James; Belcher, Angela M

2005-07-01

Biological systems possess inherent molecular recognition and self-assembly capabilities and are attractive templates for constructing complex material structures with molecular precision. Here we report the assembly of various nanoachitectures including nanoparticle arrays, hetero-nanoparticle architectures, and nanowires utilizing highly engineered M13 bacteriophage as templates. The genome of M13 phage can be rationally engineered to produce viral particles with distinct substrate-specific peptides expressed on the filamentous capsid and the ends, providing a generic template for programmable assembly of complex nanostructures. Phage clones with gold-binding motifs on the capsid and streptavidin-binding motifs at one end are created and used to assemble Au and CdSe nanocrytals into ordered one-dimensional arrays and more complex geometries. Initial studies show such nanoparticle arrays can further function as templates to nucleate highly conductive nanowires that are important for addressing/interconnecting individual nanostructures.

Exploration of genetic and phenotypic diversity within Saccharomyces uvarum for driving strain improvement in winemaking.

PubMed

Verspohl, Alexandra; Solieri, Lisa; Giudici, Paolo

2017-03-01

The selection and genetic improvement of wine yeast is an ongoing process, since yeast strains should match new technologies in winemaking to satisfy evolving consumer preferences. A large genetic background is the necessary starting point for any genetic improvement programme. For this reason, we collected and characterized a large number of strains belonging to Saccharomyces uvarum. In particular, 70 strains were isolated from cold-stored must samples: they were identified and compared to S. uvarum strains originating from different collections, regarding fermentation profile, spore viability and stress response. The results demonstrate a large biodiversity among the new isolates, with particular emphasis to fermentation performances, genotypes and high spore viability, making the isolates suitable for further genetic improvement programmes. Furthermore, few of them are competitive with Saccharomyces cerevisiae and per se, suitable for wine fermentation, due to their resistance to stress, short lag phase and fermentation by-products.

Genetic counselling in tribals in India

PubMed Central

Mohanty, Dipika; Das, Kishalaya

2011-01-01

Genetic counselling in tribals unlike general population residing in cities and near villages is a difficult task due of their lower literacy and poor socio-economic status. However, sustained effort is essential with a close interaction in the local language, certain misbeliefs need to be removed gradually taking into account their socio-cultural background. The present communication deals with our experience in counselling for haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in four States viz. Orissa, Gujarat, Tamil Nadu and Maharashtra. Counselling during neonatal screening programme was very well accepted demonstrating the benefit to the small babies as regards the morbidity. Premarital marriage counselling was also accepted by them. The success rate as followed up for 5 years is almost 50 per cent, the limitation being long follow up. Genetic counselling in these areas has to be continuous to achieve success and therefore the need for setting up of permanent centres in the tribal areas in India. PMID:22089621

The Generation Challenge Programme Platform: Semantic Standards and Workbench for Crop Science

PubMed Central

Bruskiewich, Richard; Senger, Martin; Davenport, Guy; Ruiz, Manuel; Rouard, Mathieu; Hazekamp, Tom; Takeya, Masaru; Doi, Koji; Satoh, Kouji; Costa, Marcos; Simon, Reinhard; Balaji, Jayashree; Akintunde, Akinnola; Mauleon, Ramil; Wanchana, Samart; Shah, Trushar; Anacleto, Mylah; Portugal, Arllet; Ulat, Victor Jun; Thongjuea, Supat; Braak, Kyle; Ritter, Sebastian; Dereeper, Alexis; Skofic, Milko; Rojas, Edwin; Martins, Natalia; Pappas, Georgios; Alamban, Ryan; Almodiel, Roque; Barboza, Lord Hendrix; Detras, Jeffrey; Manansala, Kevin; Mendoza, Michael Jonathan; Morales, Jeffrey; Peralta, Barry; Valerio, Rowena; Zhang, Yi; Gregorio, Sergio; Hermocilla, Joseph; Echavez, Michael; Yap, Jan Michael; Farmer, Andrew; Schiltz, Gary; Lee, Jennifer; Casstevens, Terry; Jaiswal, Pankaj; Meintjes, Ayton; Wilkinson, Mark; Good, Benjamin; Wagner, James; Morris, Jane; Marshall, David; Collins, Anthony; Kikuchi, Shoshi; Metz, Thomas; McLaren, Graham; van Hintum, Theo

2008-01-01

The Generation Challenge programme (GCP) is a global crop research consortium directed toward crop improvement through the application of comparative biology and genetic resources characterization to plant breeding. A key consortium research activity is the development of a GCP crop bioinformatics platform to support GCP research. This platform includes the following: (i) shared, public platform-independent domain models, ontology, and data formats to enable interoperability of data and analysis flows within the platform; (ii) web service and registry technologies to identify, share, and integrate information across diverse, globally dispersed data sources, as well as to access high-performance computational (HPC) facilities for computationally intensive, high-throughput analyses of project data; (iii) platform-specific middleware reference implementations of the domain model integrating a suite of public (largely open-access/-source) databases and software tools into a workbench to facilitate biodiversity analysis, comparative analysis of crop genomic data, and plant breeding decision making. PMID:18483570

First Results in the Use of Bovine Ear Notch Tag for Bovine Viral Diarrhoea Virus Detection and Genetic Analysis

PubMed Central

Quinet, Christian; Czaplicki, Guy; Dion, Elise; Dal Pozzo, Fabiana; Kurz, Anke; Saegerman, Claude

2016-01-01

Background Infection due to bovine viral diarrhoea virus (BVDV) is endemic in most cattle-producing countries throughout the world. The key elements of a BVDV control programme are biosecurity, elimination of persistently infected animals and surveillance. Bovine viral diarrhoea (BVD) is a notifiable disease in Belgium and an official eradication programme started from January 2015, based on testing ear notches sampled during the official identification and registration of calves at birth. An antigen-capture ELISA test based on the detection of BVDV Erns protein is used. Ear notch sample may also be used to characterize the genotype of the calf when appropriate elution/dilution buffer is added. Both BVDV antigen-ELISA analysis and animal traceability could be performed. Methodology With regards to the reference protocol used in the preparation of ear notch samples, alternative procedures were tested in terms of BVDV analytic sensitivity, diagnostic sensitivity and specificity, as well as quality and purity of animal DNA. Principal Findings/Significance The Allflex DNA Buffer D showed promising results in BVDV diagnosis and genome analyses, opening new perspectives for the livestock industry by the exploitation of the animal genome. Due to the high number of cattle involved in the Belgian official BVDV eradication programme based on ear notch tags sample, a large database on both BVDV status of newborn calves and cattle genome could be created for subsequent different uses (e.g. traceability, determination of parentage, genetic signatures throughout the genome associated with particular traits) evolving through a more integrated animal health. PMID:27764130

Goals and hurdles for a successful implementation of genomic selection in breeding programme for selected annual and perennial crops.

PubMed

Jonas, Elisabeth; de Koning, Dirk Jan

Genomic Selection is an important topic in quantitative genetics and breeding. Not only does it allow the full use of current molecular genetic technologies, it stimulates also the development of new methods and models. Genomic selection, if fully implemented in commercial farming, should have a major impact on the productivity of various agricultural systems. But suggested approaches need to be applicable in commercial breeding populations. Many of the published research studies focus on methodologies. We conclude from the reviewed publications, that a stronger focus on strategies for the implementation of genomic selection in advanced breeding lines, introduction of new varieties, hybrids or multi-line crosses is needed. Efforts to find solutions for a better prediction and integration of environmental influences need to continue within applied breeding schemes. Goals of the implementation of genomic selection into crop breeding should be carefully defined and crop breeders in the private sector will play a substantial part in the decision-making process. However, the lack of published results from studies within, or in collaboration with, private companies diminishes the knowledge on the status of genomic selection within applied breeding programmes. Studies on the implementation of genomic selection in plant breeding need to evaluate models and methods with an enhanced emphasis on population-specific requirements and production environments. Adaptation of methods to breeding schemes or changes to breeding programmes for a better integration of genomic selection strategies are needed across species. More openness with a continuous exchange will contribute to successes.

Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM study.

PubMed

Agyemang, Charles; Beune, Erik; Meeks, Karlijn; Owusu-Dabo, Ellis; Agyei-Baffour, Peter; Aikins, Ama de-Graft; Dodoo, Francis; Smeeth, Liam; Addo, Juliet; Mockenhaupt, Frank P; Amoah, Stephen K; Schulze, Matthias B; Danquah, Ina; Spranger, Joachim; Nicolaou, Mary; Klipstein-Grobusch, Kerstin; Burr, Tom; Henneman, Peter; Mannens, Marcel M; van Straalen, Jan P; Bahendeka, Silver; Zwinderman, A H; Kunst, Anton E; Stronks, Karien

2014-03-21

Obesity and type 2 diabetes (T2D) are highly prevalent among African migrants compared with European descent populations. The underlying reasons still remain a puzzle. Gene-environmental interaction is now seen as a potential plausible factor contributing to the high prevalence of obesity and T2D, but has not yet been investigated. The overall aim of the Research on Obesity and Diabetes among African Migrants (RODAM) project is to understand the reasons for the high prevalence of obesity and T2D among sub-Saharan Africans in diaspora by (1) studying the complex interplay between environment (eg, lifestyle), healthcare, biochemical and (epi)genetic factors, and their relative contributions to the high prevalence of obesity and T2D; (2) to identify specific risk factors within these broad categories to guide intervention programmes and (3) to provide a basic knowledge for improving diagnosis and treatment. RODAM is a multicentre cross-sectional study among homogenous sub-Saharan African participants (ie, Ghanaians) aged >25 years living in rural and urban Ghana, the Netherlands, Germany and the UK (http://rod-am.eu/). Standardised data on the main outcomes, genetic and non-genetic factors are collected in all locations. The aim is to recruit 6250 individuals comprising five subgroups of 1250 individuals from each site. In Ghana, Kumasi and Obuasi (urban stratum) and villages in the Ashanti region (rural stratum) are served as recruitment sites. In Europe, Ghanaian migrants are selected through the municipality or Ghanaian organisations registers. Ethical approval has been obtained in all sites. This paper gives an overview of the rationale, conceptual framework and methods of the study. The differences across locations will allow us to gain insight into genetic and non-genetic factors contributing to the occurrence of obesity and T2D and will inform targeted intervention and prevention programmes, and provide the basis for improving diagnosis and treatment in these populations and beyond.

Harnessing CRISPR-Cas systems for bacterial genome editing.

PubMed

Selle, Kurt; Barrangou, Rodolphe

2015-04-01

Manipulation of genomic sequences facilitates the identification and characterization of key genetic determinants in the investigation of biological processes. Genome editing via clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated (Cas) constitutes a next-generation method for programmable and high-throughput functional genomics. CRISPR-Cas systems are readily reprogrammed to induce sequence-specific DNA breaks at target loci, resulting in fixed mutations via host-dependent DNA repair mechanisms. Although bacterial genome editing is a relatively unexplored and underrepresented application of CRISPR-Cas systems, recent studies provide valuable insights for the widespread future implementation of this technology. This review summarizes recent progress in bacterial genome editing and identifies fundamental genetic and phenotypic outcomes of CRISPR targeting in bacteria, in the context of tool development, genome homeostasis, and DNA repair. Copyright © 2015 Elsevier Ltd. All rights reserved.

Identifying the genes underlying quantitative traits: a rationale for the QTN programme.

PubMed

Lee, Young Wha; Gould, Billie A; Stinchcombe, John R

2014-01-01

The goal of identifying the genes or even nucleotides underlying quantitative and adaptive traits has been characterized as the 'QTN programme' and has recently come under severe criticism. Part of the reason for this criticism is that much of the QTN programme has asserted that finding the genes and nucleotides for adaptive and quantitative traits is a fundamental goal, without explaining why it is such a hallowed goal. Here we outline motivations for the QTN programme that offer general insight, regardless of whether QTNs are of large or small effect, and that aid our understanding of the mechanistic dynamics of adaptive evolution. We focus on five areas: (i) vertical integration of insight across different levels of biological organization, (ii) genetic parallelism and the role of pleiotropy in shaping evolutionary dynamics, (iii) understanding the forces maintaining genetic variation in populations, (iv) distinguishing between adaptation from standing variation and new mutation, and (v) the role of genomic architecture in facilitating adaptation. We argue that rather than abandoning the QTN programme, we should refocus our efforts on topics where molecular data will be the most effective for testing hypotheses about phenotypic evolution.

Understanding geographic origins and history of admixture among chimpanzees in European zoos, with implications for future breeding programmes.

PubMed

Hvilsom, C; Frandsen, P; Børsting, C; Carlsen, F; Sallé, B; Simonsen, B T; Siegismund, H R

2013-06-01

Despite ample focus on this endangered species, conservation planning for chimpanzees residing outside Africa has proven a challenge because of the lack of ancestry information. Here, we analysed the largest number of chimpanzee samples to date, examining microsatellites in >100 chimpanzees from the range of the species in Africa, and 20% of the European zoo population. We applied the knowledge about subspecies differentiation throughout equatorial Africa to assign origin to chimpanzees in the largest conservation management programme globally. A total of 63% of the genotyped chimpanzees from the European zoos could be assigned to one of the recognized subspecies. The majority being of West African origin (40%) will help consolidate the current breeding programme for this subspecies and the identification of individuals belonging to the two other subspecies so far found in European zoos can form the basis for breeding programmes for these. Individuals of various degree of mixed ancestry made up 37% of the genotyped European zoo population and thus highlight the need for appropriate management programmes guided by genetic analysis to preserve maximum genetic diversity and reduce hybridization among subspecies.

Understanding geographic origins and history of admixture among chimpanzees in European zoos, with implications for future breeding programmes

PubMed Central

Hvilsom, C; Frandsen, P; Børsting, C; Carlsen, F; Sallé, B; Simonsen, B T; Siegismund, H R

2013-01-01

Despite ample focus on this endangered species, conservation planning for chimpanzees residing outside Africa has proven a challenge because of the lack of ancestry information. Here, we analysed the largest number of chimpanzee samples to date, examining microsatellites in >100 chimpanzees from the range of the species in Africa, and 20% of the European zoo population. We applied the knowledge about subspecies differentiation throughout equatorial Africa to assign origin to chimpanzees in the largest conservation management programme globally. A total of 63% of the genotyped chimpanzees from the European zoos could be assigned to one of the recognized subspecies. The majority being of West African origin (40%) will help consolidate the current breeding programme for this subspecies and the identification of individuals belonging to the two other subspecies so far found in European zoos can form the basis for breeding programmes for these. Individuals of various degree of mixed ancestry made up 37% of the genotyped European zoo population and thus highlight the need for appropriate management programmes guided by genetic analysis to preserve maximum genetic diversity and reduce hybridization among subspecies. PMID:23531981

Introduction to focus issue: quantitative approaches to genetic networks.

PubMed

Albert, Réka; Collins, James J; Glass, Leon

2013-06-01

All cells of living organisms contain similar genetic instructions encoded in the organism's DNA. In any particular cell, the control of the expression of each different gene is regulated, in part, by binding of molecular complexes to specific regions of the DNA. The molecular complexes are composed of protein molecules, called transcription factors, combined with various other molecules such as hormones and drugs. Since transcription factors are coded by genes, cellular function is partially determined by genetic networks. Recent research is making large strides to understand both the structure and the function of these networks. Further, the emerging discipline of synthetic biology is engineering novel gene circuits with specific dynamic properties to advance both basic science and potential practical applications. Although there is not yet a universally accepted mathematical framework for studying the properties of genetic networks, the strong analogies between the activation and inhibition of gene expression and electric circuits suggest frameworks based on logical switching circuits. This focus issue provides a selection of papers reflecting current research directions in the quantitative analysis of genetic networks. The work extends from molecular models for the binding of proteins, to realistic detailed models of cellular metabolism. Between these extremes are simplified models in which genetic dynamics are modeled using classical methods of systems engineering, Boolean switching networks, differential equations that are continuous analogues of Boolean switching networks, and differential equations in which control is based on power law functions. The mathematical techniques are applied to study: (i) naturally occurring gene networks in living organisms including: cyanobacteria, Mycoplasma genitalium, fruit flies, immune cells in mammals; (ii) synthetic gene circuits in Escherichia coli and yeast; and (iii) electronic circuits modeling genetic networks using field-programmable gate arrays. Mathematical analyses will be essential for understanding naturally occurring genetic networks in diverse organisms and for providing a foundation for the improved development of synthetic genetic networks.

Introduction to Focus Issue: Quantitative Approaches to Genetic Networks

NASA Astrophysics Data System (ADS)

Albert, Réka; Collins, James J.; Glass, Leon

2013-06-01

All cells of living organisms contain similar genetic instructions encoded in the organism's DNA. In any particular cell, the control of the expression of each different gene is regulated, in part, by binding of molecular complexes to specific regions of the DNA. The molecular complexes are composed of protein molecules, called transcription factors, combined with various other molecules such as hormones and drugs. Since transcription factors are coded by genes, cellular function is partially determined by genetic networks. Recent research is making large strides to understand both the structure and the function of these networks. Further, the emerging discipline of synthetic biology is engineering novel gene circuits with specific dynamic properties to advance both basic science and potential practical applications. Although there is not yet a universally accepted mathematical framework for studying the properties of genetic networks, the strong analogies between the activation and inhibition of gene expression and electric circuits suggest frameworks based on logical switching circuits. This focus issue provides a selection of papers reflecting current research directions in the quantitative analysis of genetic networks. The work extends from molecular models for the binding of proteins, to realistic detailed models of cellular metabolism. Between these extremes are simplified models in which genetic dynamics are modeled using classical methods of systems engineering, Boolean switching networks, differential equations that are continuous analogues of Boolean switching networks, and differential equations in which control is based on power law functions. The mathematical techniques are applied to study: (i) naturally occurring gene networks in living organisms including: cyanobacteria, Mycoplasma genitalium, fruit flies, immune cells in mammals; (ii) synthetic gene circuits in Escherichia coli and yeast; and (iii) electronic circuits modeling genetic networks using field-programmable gate arrays. Mathematical analyses will be essential for understanding naturally occurring genetic networks in diverse organisms and for providing a foundation for the improved development of synthetic genetic networks.

Study on Analysis of Variance on the indigenous wild and cultivated rice species of Manipur Valley

NASA Astrophysics Data System (ADS)

Medhabati, K.; Rohinikumar, M.; Rajiv Das, K.; Henary, Ch.; Dikash, Th.

2012-10-01

The analysis of variance revealed considerable variation among the cultivars and the wild species for yield and other quantitative characters in both the years of investigation. The highly significant differences among the cultivars in year wise and pooled analysis of variance for all the 12 characters reveal that there are enough genetic variabilities for all the characters studied. The existence of genetic variability is of paramount importance for starting a judicious plant breeding programme. Since introduced high yielding rice cultivars usually do not perform well. Improvement of indigenous cultivars is a clear choice for increase of rice production. The genetic variability of 37 rice germplasms in 12 agronomic characters estimated in the present study can be used in breeding programme

Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.).

PubMed

Allen, Alexandra M; Barker, Gary L A; Berry, Simon T; Coghill, Jane A; Gwilliam, Rhian; Kirby, Susan; Robinson, Phil; Brenchley, Rachel C; D'Amore, Rosalinda; McKenzie, Neil; Waite, Darren; Hall, Anthony; Bevan, Michael; Hall, Neil; Edwards, Keith J

2011-12-01

Food security is a global concern and substantial yield increases in cereal crops are required to feed the growing world population. Wheat is one of the three most important crops for human and livestock feed. However, the complexity of the genome coupled with a decline in genetic diversity within modern elite cultivars has hindered the application of marker-assisted selection (MAS) in breeding programmes. A crucial step in the successful application of MAS in breeding programmes is the development of cheap and easy to use molecular markers, such as single-nucleotide polymorphisms. To mine selected elite wheat germplasm for intervarietal single-nucleotide polymorphisms, we have used expressed sequence tags derived from public sequencing programmes and next-generation sequencing of normalized wheat complementary DNA libraries, in combination with a novel sequence alignment and assembly approach. Here, we describe the development and validation of a panel of 1114 single-nucleotide polymorphisms in hexaploid bread wheat using competitive allele-specific polymerase chain reaction genotyping technology. We report the genotyping results of these markers on 23 wheat varieties, selected to represent a broad cross-section of wheat germplasm including a number of elite UK varieties. Finally, we show that, using relatively simple technology, it is possible to rapidly generate a linkage map containing several hundred single-nucleotide polymorphism markers in the doubled haploid mapping population of Avalon × Cadenza. © 2011 The Authors. Plant Biotechnology Journal © 2011 Society for Experimental Biology, Association of Applied Biologists and Blackwell Publishing Ltd.

Assessment of family history of substance abuse for preventive interventions with patients experiencing chronic pain: A quality improvement project.

PubMed

Pestka, Elizabeth; Nash, Virginia; Evans, Michele; Cronin, Joan; Bee, Susan; King, Susan; Osborn, Kristine; Gehin, Jessica; Weis, Karen; Loukianova, Larissa

2016-04-01

This quality improvement project demonstrates that RN Care Managers, in a chronic pain programme, can assess for a family history of substance abuse in 5-10 min. Information informs treatment based on specific high risk criteria. Benefits include heightened awareness of the genetic and environmental risks associated with a family history of substance abuse, an opportunity to participate in motivational interventions to prevent or minimize consequences of substance use disorders, and likely substantial overall health-care cost savings. © 2015 John Wiley & Sons Australia, Ltd.

A systematic review of interventions to provide genetics education for primary care.

PubMed

Paneque, Milena; Turchetti, Daniela; Jackson, Leigh; Lunt, Peter; Houwink, Elisa; Skirton, Heather

2016-07-22

At least 10 % of patients seen in primary care are said to have a condition in which genetics has an influence. However, patients at risk of genetic disease may not be recognised, while those who seek advice may not be referred or managed appropriately. Primary care practitioners lack knowledge of genetics and genetic testing relevant for daily practice and feel inadequate to deliver genetic services. The aim of this systematic review was to evaluate genetics educational interventions in the context of primary care. Following the process for systematic reviews developed by the Centre for Reviews and Dissemination, we conducted a search of five relevant electronic databases. Primary research papers were eligible for inclusion if they included data on outcomes of interventions regarding genetics education for primary care practitioners. The results from each paper were coded and grouped under themes. Eleven studies were included in the review. The five major themes identified inductively (post hoc) were: prior experience, changes in confidence, changes in knowledge, changes in practice, satisfaction and feedback. In five of the studies, knowledge of practitioners was improved following the educational programmes, but this tended to be in specific topic areas, while practitioner confidence improved in six studies. However, there was little apparent change to practice. There are insufficient studies of relevant quality to inform educational interventions in genetics for primary care practitioners. Educational initiatives should be assessed using changes in practice, as well as in confidence and knowledge, to determine if they are effective in causing significant changes in practice in genetic risk assessment and appropriate management of patients.

Implementing genetic education in primary care: the Gen-Equip programme.

PubMed

Paneque, Milena; Cornel, Martina C; Curtisova, Vaclava; Houwink, Elisa; Jackson, Leigh; Kent, Alastair; Lunt, Peter; Macek, Milan; Stefansdottir, Vigdis; Turchetti, Daniela; Skirton, Heather

2017-04-01

Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care. Partners include patient representatives and specialists in genetics and primary care from six countries. Here, we report the progress and challenges involved in creating a European online educational program in genetics.

Analysis of genetic diversity in pigeon pea germplasm using retrotransposon-based molecular markers.

PubMed

Maneesha; Upadhyaya, Kailash C

2017-09-01

Pigeon pea (Cajanus cajan), an important legume crop is predominantly cultivated in tropical and subtropical regions of Asia and Africa. It is normally considered to have a low degree of genetic diversity, an impediment in undertaking crop improvement programmes.We have analysed genetic polymorphism of domesticated pigeon pea germplasm (47 accessions) across the world using earlier characterized panzee retrotransposon-based molecularmarkers. Itwas conjectured that since retrotransposons are interspersed throughout the genome, retroelements-based markers would be able to uncover polymorphism possibly inherent in the diversity of retroelement sequences. Two PCR-based techniques, sequence-specific amplified polymorphism (SSAP) and retrotransposon microsatellite amplified polymorphism (REMAP) were utilized for the analyses.We show that a considerable degree of polymorphism could be detected using these techniques. Three primer combinations in SSAP generated 297 amplified products across 47 accessions with an average of 99 amplicons per assay. Degree of polymorphism varied from 84-95%. In the REMAP assays, the number of amplicons was much less but up to 73% polymorphism could be detected. On the basis of similarity coefficients, dendrograms were constructed. The results demonstrate that the retrotransposon-based markers could serve as a better alternative for the assessment of genetic diversity in crops with apparent low genetic base.

Exploring Biology Teachers' Pedagogical Content Knowledge in the Teaching of Genetics in Swaziland Science Classrooms

NASA Astrophysics Data System (ADS)

Mthethwa-Kunene, Eunice; Oke Onwu, Gilbert; de Villiers, Rian

2015-05-01

This study explored the pedagogical content knowledge (PCK) and its development of four experienced biology teachers in the context of teaching school genetics. PCK was defined in terms of teacher content knowledge, pedagogical knowledge and knowledge of students' preconceptions and learning difficulties. Data sources of teacher knowledge base included teacher-constructed concept maps, pre- and post-lesson teacher interviews, video-recorded genetics lessons, post-lesson teacher questionnaire and document analysis of teacher's reflective journals and students' work samples. The results showed that the teachers' individual PCK profiles consisted predominantly of declarative and procedural content knowledge in teaching basic genetics concepts. Conditional knowledge, which is a type of meta-knowledge for blending together declarative and procedural knowledge, was also demonstrated by some teachers. Furthermore, the teachers used topic-specific instructional strategies such as context-based teaching, illustrations, peer teaching, and analogies in diverse forms but failed to use physical models and individual or group student experimental activities to assist students' internalization of the concepts. The finding that all four teachers lacked knowledge of students' genetics-related preconceptions was equally significant. Formal university education, school context, journal reflection and professional development programmes were considered as contributing to the teachers' continuing PCK development. Implications of the findings for biology teacher education are briefly discussed.

Remediating Viking Origins: Genetic Code as Archival Memory of the Remote Past

PubMed Central

King, Turi; Brown, Steven D

2013-01-01

This article introduces some early data from the Leverhulme Trust-funded research programme, ‘The Impact of the Diasporas on the Making of Britain: evidence, memories, inventions’. One of the interdisciplinary foci of the programme, which incorporates insights from genetics, history, archaeology, linguistics and social psychology, is to investigate how genetic evidence of ancestry is incorporated into identity narratives. In particular, we investigate how ‘applied genetic history’ shapes individual and familial narratives, which are then situated within macro-narratives of the nation and collective memories of immigration and indigenism. It is argued that the construction of genetic evidence as a ‘gold standard’ about ‘where you really come from’ involves a remediation of cultural and archival memory, in the construction of a ‘usable past’. This article is based on initial questionnaire data from a preliminary study of those attending DNA collection sessions in northern England. It presents some early indicators of the perceived importance of being of Viking descent among participants, notes some emerging patterns and considers the implications for contemporary debates on migration, belonging and local and national identity. PMID:24179286

Remediating Viking Origins: Genetic Code as Archival Memory of the Remote Past.

PubMed

Scully, Marc; King, Turi; Brown, Steven D

2013-10-01

This article introduces some early data from the Leverhulme Trust-funded research programme, 'The Impact of the Diasporas on the Making of Britain: evidence, memories, inventions'. One of the interdisciplinary foci of the programme, which incorporates insights from genetics, history, archaeology, linguistics and social psychology, is to investigate how genetic evidence of ancestry is incorporated into identity narratives. In particular, we investigate how 'applied genetic history' shapes individual and familial narratives, which are then situated within macro-narratives of the nation and collective memories of immigration and indigenism. It is argued that the construction of genetic evidence as a 'gold standard' about 'where you really come from' involves a remediation of cultural and archival memory, in the construction of a 'usable past'. This article is based on initial questionnaire data from a preliminary study of those attending DNA collection sessions in northern England. It presents some early indicators of the perceived importance of being of Viking descent among participants, notes some emerging patterns and considers the implications for contemporary debates on migration, belonging and local and national identity.

Genetically engineered orange petunias on the market.

PubMed

Bashandy, Hany; Teeri, Teemu H

2017-08-01

Unauthorized genetically engineered orange petunias were found on the market. Genetic engineering of petunia was shown to lead to novel flower color some 20 years ago. Here we show that petunia lines with orange flowers, generated for scientific purposes, apparently found their way to petunia breeding programmes, intentionally or unintentionally. Today they are widely available, but have not been registered for commerce.

Integrative analysis of 111 reference human epigenomes.

PubMed

Kundaje, Anshul; Meuleman, Wouter; Ernst, Jason; Bilenky, Misha; Yen, Angela; Heravi-Moussavi, Alireza; Kheradpour, Pouya; Zhang, Zhizhuo; Wang, Jianrong; Ziller, Michael J; Amin, Viren; Whitaker, John W; Schultz, Matthew D; Ward, Lucas D; Sarkar, Abhishek; Quon, Gerald; Sandstrom, Richard S; Eaton, Matthew L; Wu, Yi-Chieh; Pfenning, Andreas R; Wang, Xinchen; Claussnitzer, Melina; Liu, Yaping; Coarfa, Cristian; Harris, R Alan; Shoresh, Noam; Epstein, Charles B; Gjoneska, Elizabeta; Leung, Danny; Xie, Wei; Hawkins, R David; Lister, Ryan; Hong, Chibo; Gascard, Philippe; Mungall, Andrew J; Moore, Richard; Chuah, Eric; Tam, Angela; Canfield, Theresa K; Hansen, R Scott; Kaul, Rajinder; Sabo, Peter J; Bansal, Mukul S; Carles, Annaick; Dixon, Jesse R; Farh, Kai-How; Feizi, Soheil; Karlic, Rosa; Kim, Ah-Ram; Kulkarni, Ashwinikumar; Li, Daofeng; Lowdon, Rebecca; Elliott, GiNell; Mercer, Tim R; Neph, Shane J; Onuchic, Vitor; Polak, Paz; Rajagopal, Nisha; Ray, Pradipta; Sallari, Richard C; Siebenthall, Kyle T; Sinnott-Armstrong, Nicholas A; Stevens, Michael; Thurman, Robert E; Wu, Jie; Zhang, Bo; Zhou, Xin; Beaudet, Arthur E; Boyer, Laurie A; De Jager, Philip L; Farnham, Peggy J; Fisher, Susan J; Haussler, David; Jones, Steven J M; Li, Wei; Marra, Marco A; McManus, Michael T; Sunyaev, Shamil; Thomson, James A; Tlsty, Thea D; Tsai, Li-Huei; Wang, Wei; Waterland, Robert A; Zhang, Michael Q; Chadwick, Lisa H; Bernstein, Bradley E; Costello, Joseph F; Ecker, Joseph R; Hirst, Martin; Meissner, Alexander; Milosavljevic, Aleksandar; Ren, Bing; Stamatoyannopoulos, John A; Wang, Ting; Kellis, Manolis

2015-02-19

The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation and human disease.

Programmable full-adder computations in communicating three-dimensional cell cultures.

PubMed

Ausländer, David; Ausländer, Simon; Pierrat, Xavier; Hellmann, Leon; Rachid, Leila; Fussenegger, Martin

2018-01-01

Synthetic biologists have advanced the design of trigger-inducible gene switches and their assembly into input-programmable circuits that enable engineered human cells to perform arithmetic calculations reminiscent of electronic circuits. By designing a versatile plug-and-play molecular-computation platform, we have engineered nine different cell populations with genetic programs, each of which encodes a defined computational instruction. When assembled into 3D cultures, these engineered cell consortia execute programmable multicellular full-adder logics in response to three trigger compounds.

Genetic factors in exercise adoption, adherence and obesity.

PubMed

Herring, M P; Sailors, M H; Bray, M S

2014-01-01

Physical activity and exercise play critical roles in energy balance. While many interventions targeted at increasing physical activity have demonstrated efficacy in promoting weight loss or maintenance in the short term, long term adherence to such programmes is not frequently observed. Numerous factors have been examined for their ability to predict and/or influence physical activity and exercise adherence. Although physical activity has been demonstrated to have a strong genetic component in both animals and humans, few studies have examined the association between genetic variation and exercise adherence. In this review, we provide a detailed overview of the non-genetic and genetic predictors of physical activity and adherence to exercise. In addition, we report the results of analysis of 26 single nucleotide polymorphisms in six candidate genes examined for association to exercise adherence, duration, intensity and total exercise dose in young adults from the Training Interventions and Genetics of Exercise Response (TIGER) Study. Based on both animal and human research, neural signalling and pleasure/reward systems in the brain may drive in large part the propensity to be physically active and to adhere to an exercise programme. Adherence/compliance research in other fields may inform future investigation of the genetics of exercise adherence. © 2013 The Authors. obesity reviews © 2013 International Association for the Study of Obesity.

Can we use genetic and genomic approaches to identify candidate animals for targeted selective treatment.

PubMed

Laurenson, Yan C S M; Kyriazakis, Ilias; Bishop, Stephen C

2013-10-18

Estimated breeding values (EBV) for faecal egg count (FEC) and genetic markers for host resistance to nematodes may be used to identify resistant animals for selective breeding programmes. Similarly, targeted selective treatment (TST) requires the ability to identify the animals that will benefit most from anthelmintic treatment. A mathematical model was used to combine the concepts and evaluate the potential of using genetic-based methods to identify animals for a TST regime. EBVs obtained by genomic prediction were predicted to be the best determinant criterion for TST in terms of the impact on average empty body weight and average FEC, whereas pedigree-based EBVs for FEC were predicted to be marginally worse than using phenotypic FEC as a determinant criterion. Whilst each method has financial implications, if the identification of host resistance is incorporated into a wider genomic selection indices or selective breeding programmes, then genetic or genomic information may be plausibly included in TST regimes. Copyright © 2013 Elsevier B.V. All rights reserved.

Saving the spandrels? Adaptive genomic variation in conservation and fisheries management.

PubMed

Pearse, D E

2016-12-01

As highlighted by many of the papers in this issue, research on the genomic basis of adaptive phenotypic variation in natural populations has made spectacular progress in the past few years, largely due to the advances in sequencing technology and analysis. Without question, the resulting genomic data will improve the understanding of regions of the genome under selection and extend knowledge of the genetic basis of adaptive evolution. What is far less clear, but has been the focus of active discussion, is how such information can or should transfer into conservation practice to complement more typical conservation applications of genetic data. Before such applications can be realized, the evolutionary importance of specific targets of selection relative to the genome-wide diversity of the species as a whole must be evaluated. The key issues for the incorporation of adaptive genomic variation in conservation and management are discussed here, using published examples of adaptive genomic variation associated with specific phenotypes in salmonids and other taxa to highlight practical considerations for incorporating such information into conservation programmes. Scenarios are described in which adaptive genomic data could be used in conservation or restoration, constraints on its utility and the importance of validating inferences drawn from new genomic data before applying them in conservation practice. Finally, it is argued that an excessive focus on preserving the adaptive variation that can be measured, while ignoring the vast unknown majority that cannot, is a modern twist on the adaptationist programme that Gould and Lewontin critiqued almost 40 years ago. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

Partition of genetic trends by origin in Landrace and Large-White pigs.

PubMed

Škorput, D; Gorjanc, G; Kasap, A; Luković, Z

2015-10-01

The objective of this study was to analyse the effectiveness of genetic improvement via domestic selection and import for backfat thickness and time on test in a conventional pig breeding programme for Landrace (L) and Large-White (LW) breeds. Phenotype data was available for 25 553 L and 10 432 LW pigs born between 2002 and 2012 from four large-scale farms and 72 family farms. Pedigree information indicated whether each animal was born and registered within the domestic breeding programme or has been imported. This information was used for defining the genetic groups of unknown parents in a pedigree and the partitioning analysis. Breeding values were estimated using a Bayesian analysis of an animal model with and without genetic groups. Such analysis enabled full Bayesian inference of the genetic trends and their partitioning by the origin of germplasm. Estimates of genetic group indicated that imported germplasm was overall better than domestic and substantial changes in estimates of breeding values was observed when genetic group were fitted. The estimated genetic trends in L were favourable and significantly different from zero by the end of the analysed period. Overall, the genetic trends in LW were not different from zero. The relative contribution of imported germplasm to genetic trends was large, especially towards the end of analysed period with 78% and 67% in L and from 50% to 67% in LW. The analyses suggest that domestic breeding activities and sources of imported animals need to be re-evaluated, in particular in LW breed.

RNA editing with CRISPR-Cas13.

PubMed

Cox, David B T; Gootenberg, Jonathan S; Abudayyeh, Omar O; Franklin, Brian; Kellner, Max J; Joung, Julia; Zhang, Feng

2017-11-24

Nucleic acid editing holds promise for treating genetic disease, particularly at the RNA level, where disease-relevant sequences can be rescued to yield functional protein products. Type VI CRISPR-Cas systems contain the programmable single-effector RNA-guided ribonuclease Cas13. We profiled type VI systems in order to engineer a Cas13 ortholog capable of robust knockdown and demonstrated RNA editing by using catalytically inactive Cas13 (dCas13) to direct adenosine-to-inosine deaminase activity by ADAR2 (adenosine deaminase acting on RNA type 2) to transcripts in mammalian cells. This system, referred to as RNA Editing for Programmable A to I Replacement (REPAIR), which has no strict sequence constraints, can be used to edit full-length transcripts containing pathogenic mutations. We further engineered this system to create a high-specificity variant and minimized the system to facilitate viral delivery. REPAIR presents a promising RNA-editing platform with broad applicability for research, therapeutics, and biotechnology. Copyright © 2017, American Association for the Advancement of Science.

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

PubMed Central

2011-01-01

Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training) and master (midwifery training) programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care) and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1) genetics knowledge, (2) family history, (3) ethical dilemmas and psychosocial effects in relation to genetics and (4) insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for general practitioners and midwives. PMID:21329524

Disabling a Type I-E CRISPR-Cas Nuclease with a Bacteriophage-Encoded Anti-CRISPR Protein.

PubMed

Pawluk, April; Shah, Megha; Mejdani, Marios; Calmettes, Charles; Moraes, Trevor F; Davidson, Alan R; Maxwell, Karen L

2017-12-12

CRISPR (clustered regularly interspaced short palindromic repeat)-Cas adaptive immune systems are prevalent defense mechanisms in bacteria and archaea. They provide sequence-specific detection and neutralization of foreign nucleic acids such as bacteriophages and plasmids. One mechanism by which phages and other mobile genetic elements are able to overcome the CRISPR-Cas system is through the expression of anti-CRISPR proteins. Over 20 different families of anti-CRISPR proteins have been described, each of which inhibits a particular type of CRISPR-Cas system. In this work, we determined the structure of type I-E anti-CRISPR protein AcrE1 by X-ray crystallography. We show that AcrE1 binds to the CRISPR-associated helicase/nuclease Cas3 and that the C-terminal region of the anti-CRISPR protein is important for its inhibitory activity. We further show that AcrE1 can convert the endogenous type I-E CRISPR system into a programmable transcriptional repressor. IMPORTANCE The CRISPR-Cas immune system provides bacteria with resistance to invasion by potentially harmful viruses, plasmids, and other foreign mobile genetic elements. This study presents the first structural and mechanistic insight into a phage-encoded protein that inactivates the type I-E CRISPR-Cas system in Pseudomonas aeruginosa The interaction of this anti-CRISPR protein with the CRISPR-associated helicase/nuclease proteins Cas3 shuts down the CRISPR-Cas system and protects phages carrying this gene from destruction. This interaction also allows the repurposing of the endogenous type I-E CRISPR system into a programmable transcriptional repressor, providing a new biotechnological tool for genetic studies of bacteria encoding this type I-E CRISPR-Cas system. Copyright © 2017 Pawluk et al.

Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM study

PubMed Central

Agyemang, Charles; Beune, Erik; Meeks, Karlijn; Owusu-Dabo, Ellis; Agyei-Baffour, Peter; Aikins, Ama de-Graft; Dodoo, Francis; Smeeth, Liam; Addo, Juliet; Mockenhaupt, Frank P; Amoah, Stephen K; Schulze, Matthias B; Danquah, Ina; Spranger, Joachim; Nicolaou, Mary; Klipstein-Grobusch, Kerstin; Burr, Tom; Henneman, Peter; Mannens, Marcel M; van Straalen, Jan P; Bahendeka, Silver; Zwinderman, A H; Kunst, Anton E; Stronks, Karien

2014-01-01

Introduction Obesity and type 2 diabetes (T2D) are highly prevalent among African migrants compared with European descent populations. The underlying reasons still remain a puzzle. Gene–environmental interaction is now seen as a potential plausible factor contributing to the high prevalence of obesity and T2D, but has not yet been investigated. The overall aim of the Research on Obesity and Diabetes among African Migrants (RODAM) project is to understand the reasons for the high prevalence of obesity and T2D among sub-Saharan Africans in diaspora by (1) studying the complex interplay between environment (eg, lifestyle), healthcare, biochemical and (epi)genetic factors, and their relative contributions to the high prevalence of obesity and T2D; (2) to identify specific risk factors within these broad categories to guide intervention programmes and (3) to provide a basic knowledge for improving diagnosis and treatment. Methods and analysis RODAM is a multicentre cross-sectional study among homogenous sub-Saharan African participants (ie, Ghanaians) aged >25 years living in rural and urban Ghana, the Netherlands, Germany and the UK (http://rod-am.eu/). Standardised data on the main outcomes, genetic and non-genetic factors are collected in all locations. The aim is to recruit 6250 individuals comprising five subgroups of 1250 individuals from each site. In Ghana, Kumasi and Obuasi (urban stratum) and villages in the Ashanti region (rural stratum) are served as recruitment sites. In Europe, Ghanaian migrants are selected through the municipality or Ghanaian organisations registers. Ethics and dissemination Ethical approval has been obtained in all sites. This paper gives an overview of the rationale, conceptual framework and methods of the study. The differences across locations will allow us to gain insight into genetic and non-genetic factors contributing to the occurrence of obesity and T2D and will inform targeted intervention and prevention programmes, and provide the basis for improving diagnosis and treatment in these populations and beyond. PMID:24657884

Identifying the genes underlying quantitative traits: a rationale for the QTN programme

PubMed Central

Lee, Young Wha; Gould, Billie A.; Stinchcombe, John R.

2014-01-01

The goal of identifying the genes or even nucleotides underlying quantitative and adaptive traits has been characterized as the ‘QTN programme’ and has recently come under severe criticism. Part of the reason for this criticism is that much of the QTN programme has asserted that finding the genes and nucleotides for adaptive and quantitative traits is a fundamental goal, without explaining why it is such a hallowed goal. Here we outline motivations for the QTN programme that offer general insight, regardless of whether QTNs are of large or small effect, and that aid our understanding of the mechanistic dynamics of adaptive evolution. We focus on five areas: (i) vertical integration of insight across different levels of biological organization, (ii) genetic parallelism and the role of pleiotropy in shaping evolutionary dynamics, (iii) understanding the forces maintaining genetic variation in populations, (iv) distinguishing between adaptation from standing variation and new mutation, and (v) the role of genomic architecture in facilitating adaptation. We argue that rather than abandoning the QTN programme, we should refocus our efforts on topics where molecular data will be the most effective for testing hypotheses about phenotypic evolution. PMID:24790125

What makes champions? A review of the relative contribution of genes and training to sporting success.

PubMed

Tucker, Ross; Collins, Malcolm

2012-06-01

Elite sporting performance results from the combination of innumerable factors, which interact with one another in a poorly understood but complex manner to mould a talented athlete into a champion. Within the field of sports science, elite performance is understood to be the result of both training and genetic factors. However, the extent to which champions are born or made is a question that remains one of considerable interest, since it has implications for talent identification and management, as well as for how sporting federations allocate scarce resources towards the optimisation of high-performance programmes. The present review describes the contributions made by deliberate practice and genetic factors to the attainment of a high level of sporting performance. The authors conclude that although deliberate training and other environmental factors are critical for elite performance, they cannot by themselves produce an elite athlete. Rather, individual performance thresholds are determined by our genetic make-up, and training can be defined as the process by which genetic potential is realised. Although the specific details are currently unknown, the current scientific literature clearly indicates that both nurture and nature are involved in determining elite athletic performance. In conclusion, elite sporting performance is the result of the interaction between genetic and training factors, with the result that both talent identification and management systems to facilitate optimal training are crucial to sporting success.

Next stop for the CRISPR revolution: RNA-guided epigenetic regulators.

PubMed

Vora, Suhani; Tuttle, Marcelle; Cheng, Jenny; Church, George

2016-09-01

Clustered regularly interspaced short palindromic repeats (CRISPRs) and CRISPR-associated (Cas) proteins offer a breakthrough platform for cheap, programmable, and effective sequence-specific DNA targeting. The CRISPR-Cas system is naturally equipped for targeted DNA cutting through its native nuclease activity. As such, groups researching a broad spectrum of biological organisms have quickly adopted the technology with groundbreaking applications to genomic sequence editing in over 20 different species. However, the biological code of life is not only encoded in genetics but also in epigenetics as well. While genetic sequence editing is a powerful ability, we must also be able to edit and regulate transcriptional and epigenetic code. Taking inspiration from work on earlier sequence-specific targeting technologies such as zinc fingers (ZFs) and transcription activator-like effectors (TALEs), researchers quickly expanded the CRISPR-Cas toolbox to include transcriptional activation, repression, and epigenetic modification. In this review, we highlight advances that extend the CRISPR-Cas toolkit for transcriptional and epigenetic regulation, as well as best practice guidelines for these tools, and a perspective on future applications. © 2016 The Authors. The FEBS Journal published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.

Using CRISPR-Cas systems as antimicrobials.

PubMed

Bikard, David; Barrangou, Rodolphe

2017-06-01

Although CRISPR-Cas systems naturally evolved to provide adaptive immunity in bacteria and archaea, Cas nucleases can be co-opted to target chromosomal sequences rather than invasive genetic elements. Although genome editing is the primary outcome of self-targeting using CRISPR-based technologies in eukaryotes, self-targeting by CRISPR is typically lethal in bacteria. Here, we discuss how DNA damage introduced by Cas nucleases in bacteria can efficiently and specifically lead to plasmid curing or drive cell death. Specifically, we discuss how various CRISPR-Cas systems can be engineered and delivered using phages or phagemids as vectors. These principles establish CRISPR-Cas systems as potent and programmable antimicrobials, and open new avenues for the development of CRISPR-based tools for selective removal of bacterial pathogens and precise microbiome composition alteration. Copyright © 2017 Elsevier Ltd. All rights reserved.

Analysis of disconnected diallel mating designs II: results from a third generation progeny test of the New Zealand radiata pine improvement programme.

Treesearch

J.N. King; M.J. Carson; G.R. Johnson

1998-01-01

Genetic parameters from a second generation (F2) disconnected diallel progeny test of the New Zealand radiata pine improvement programme are presented. Heritability estimates of growth and yield traits of 0.2 are similar to progeny test results of the previous generation (F1) generation tests. A trend of declining dominance...

Exploration of a rare population of Chinese chestnut in North America: stand dynamics, health and genetic relationships

Treesearch

Amy C. Miller; Keith E. Woeste; Sandra L. Anagnostakis; Doutlass F. Jacobs

2014-01-01

With the transport of plants around the globe, exotic species can readily spread disease to their native relatives; however, they can also provide genetic resistance to those relatives through hybrid breeding programmes. American chestnut (Castanea dentata) was an abundant tree species in North America until its decimation by introduced chestnut...

Conceptual framework and rationale

PubMed Central

Robinson, Alan S; Knols, Bart GJ; Voigt, Gabriella; Hendrichs, Jorge

2009-01-01

The sterile insect technique (SIT) has been shown to be an effective and sustainable genetic approach to control populations of selected major pest insects, when part of area-wide integrated pest management (AW-IPM) programmes. The technique introduces genetic sterility in females of the target population in the field following their mating with released sterile males. This process results in population reduction or elimination via embryo lethality caused by dominant lethal mutations induced in sperm of the released males. In the past, several field trials have been carried out for mosquitoes with varying degrees of success. New technology and experience gained with other species of insect pests has encouraged a reassessment of the use of the sterility principle as part of integrated control of malaria vectors. Significant technical and logistic hurdles will need to be overcome to develop the technology and make it effective to suppress selected vector populations, and its application will probably be limited to specific ecological situations. Using sterile males to control mosquito vector populations can only be effective as part of an AW-IPM programme. The area-wide concept entails the targeting of the total mosquito population within a defined area. It requires, therefore, a thorough understanding of the target pest population biology especially as regards mating behaviour, population dynamics, dispersal and level of reproductive isolation. The key challenges for success are: 1) devising methods to monitor vector populations and measuring competitiveness of sterile males in the field, 2) designing mass rearing, sterilization and release strategies that maintain competitiveness of the sterile male mosquitoes, 3) developing methods to separate sexes in order to release only male mosquitoes and 4) adapting suppression measures and release rates to take into account the high reproductive rate of mosquitoes. Finally, success in area-wide implementation in the field can only be achieved if close attention is paid to political, socio-economic and environmental sensitivities and an efficient management organization is established taking into account the interests of all potential stakeholders of an AW-IPM programme. PMID:19917070

Gene editing and clonal isolation of human induced pluripotent stem cells using CRISPR/Cas9.

PubMed

Yumlu, Saniye; Stumm, Jürgen; Bashir, Sanum; Dreyer, Anne-Kathrin; Lisowski, Pawel; Danner, Eric; Kühn, Ralf

2017-05-15

Human induced pluripotent stem cells (hiPSCs) represent an ideal in vitro platform to study human genetics and biology. The recent advent of programmable nucleases makes also the human genome amenable to experimental genetics through either the correction of mutations in patient-derived iPSC lines or the de novo introduction of mutations into otherwise healthy iPSCs. The production of specific and sometimes complex genotypes in multiple cell lines requires efficient and streamlined gene editing technologies. In this article we provide protocols for gene editing in hiPSCs. We presently achieve high rates of gene editing at up to three loci using a modified iCRISPR system. This system includes a doxycycline inducible Cas9 and sgRNA/reporter plasmids for the enrichment of transfected cells by fluorescence-activated cell sorting (FACS). Here we cover the selection of target sites, vector construction, transfection, and isolation and genotyping of modified hiPSC clones. Copyright © 2017 Elsevier Inc. All rights reserved.

The Revolution Continues: Newly Discovered Systems Expand the CRISPR-Cas Toolkit.

PubMed

Murugan, Karthik; Babu, Kesavan; Sundaresan, Ramya; Rajan, Rakhi; Sashital, Dipali G

2017-10-05

CRISPR-Cas systems defend prokaryotes against bacteriophages and mobile genetic elements and serve as the basis for revolutionary tools for genetic engineering. Class 2 CRISPR-Cas systems use single Cas endonucleases paired with guide RNAs to cleave complementary nucleic acid targets, enabling programmable sequence-specific targeting with minimal machinery. Recent discoveries of previously unidentified CRISPR-Cas systems have uncovered a deep reservoir of potential biotechnological tools beyond the well-characterized Type II Cas9 systems. Here we review the current mechanistic understanding of newly discovered single-protein Cas endonucleases. Comparison of these Cas effectors reveals substantial mechanistic diversity, underscoring the phylogenetic divergence of related CRISPR-Cas systems. This diversity has enabled further expansion of CRISPR-Cas biotechnological toolkits, with wide-ranging applications from genome editing to diagnostic tools based on various Cas endonuclease activities. These advances highlight the exciting prospects for future tools based on the continually expanding set of CRISPR-Cas systems. Copyright © 2017 Elsevier Inc. All rights reserved.

A sigma factor toolbox for orthogonal gene expression in Escherichia coli

PubMed Central

Van Brempt, Maarten; Van Nerom, Katleen; Van Hove, Bob; Maertens, Jo; De Mey, Marjan; Charlier, Daniel

2018-01-01

Abstract Synthetic genetic sensors and circuits enable programmable control over timing and conditions of gene expression and, as a result, are increasingly incorporated into the control of complex and multi-gene pathways. Size and complexity of genetic circuits are growing, but stay limited by a shortage of regulatory parts that can be used without interference. Therefore, orthogonal expression and regulation systems are needed to minimize undesired crosstalk and allow for dynamic control of separate modules. This work presents a set of orthogonal expression systems for use in Escherichia coli based on heterologous sigma factors from Bacillus subtilis that recognize specific promoter sequences. Up to four of the analyzed sigma factors can be combined to function orthogonally between each other and toward the host. Additionally, the toolbox is expanded by creating promoter libraries for three sigma factors without loss of their orthogonal nature. As this set covers a wide range of transcription initiation frequencies, it enables tuning of multiple outputs of the circuit in response to different sensory signals in an orthogonal manner. This sigma factor toolbox constitutes an interesting expansion of the synthetic biology toolbox and may contribute to the assembly of more complex synthetic genetic systems in the future. PMID:29361130

Congenital hearing loss

PubMed Central

Korver, Anna M. H.; Smith, Richard J. H.; Van Camp, Guy; Schleiss, Mark R.; Bitner-Glindzicz, Maria A. K.; Lustig, Lawrence R.; Usami, Shin-ichi; Boudewyns, An N.

2017-01-01

Congenital hearing loss (hearing loss present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing-screening programmes enable early detection; early intervention will prevent delays in speech and language development and have long-lasting beneficial effects on social and emotional development and quality of life. A hearing loss diagnosis is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision-making and guide prevention and (genetic) counseling. Management options include specific antimicrobial therapies, surgical treatment of cranio-facial abnormalities and hearing aids. An improved understanding of the pathophysiology and molecular mechanisms underlying hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies. PMID:28079113

The Return of Lombroso? Ethical Aspects of (Visions of) Preventive Forensic Screening.

PubMed

Munthe, Christian; Radovic, Susanna

2015-11-01

The vision of legendary criminologist Cesare Lombroso to use scientific theories of individual causes of crime as a basis for screening and prevention programmes targeting individuals at risk for future criminal behaviour has resurfaced, following advances in genetics, neuroscience and psychiatric epidemiology. This article analyses this idea and maps its ethical implications from a public health ethical standpoint. Twenty-seven variants of the new Lombrosian vision of forensic screening and prevention are distinguished, and some scientific and technical limitations are noted. Some lures, biases and structural factors, making the application of the Lombrosian idea likely in spite of weak evidence are pointed out and noted as a specific type of ethical aspect. Many classic and complex ethical challenges for health screening programmes are shown to apply to the identified variants and the choice between them, albeit with peculiar and often provoking variations. These variations are shown to actualize an underlying theoretical conundrum in need of further study, pertaining to the relationship between public health ethics and the ethics and values of criminal law policy.

The Return of Lombroso? Ethical Aspects of (Visions of) Preventive Forensic Screening

PubMed Central

Munthe, Christian; Radovic, Susanna

2015-01-01

The vision of legendary criminologist Cesare Lombroso to use scientific theories of individual causes of crime as a basis for screening and prevention programmes targeting individuals at risk for future criminal behaviour has resurfaced, following advances in genetics, neuroscience and psychiatric epidemiology. This article analyses this idea and maps its ethical implications from a public health ethical standpoint. Twenty-seven variants of the new Lombrosian vision of forensic screening and prevention are distinguished, and some scientific and technical limitations are noted. Some lures, biases and structural factors, making the application of the Lombrosian idea likely in spite of weak evidence are pointed out and noted as a specific type of ethical aspect. Many classic and complex ethical challenges for health screening programmes are shown to apply to the identified variants and the choice between them, albeit with peculiar and often provoking variations. These variations are shown to actualize an underlying theoretical conundrum in need of further study, pertaining to the relationship between public health ethics and the ethics and values of criminal law policy. PMID:26566397

Isoniazid resistant tuberculosis- a cause for concern?

PubMed Central

HR, Stagg; MC, Lipman; TD, McHugh; HE, Jenkins

2017-01-01

SUMMARY The drug isoniazid (INH) is a key component of global tuberculosis (TB) control programmes. It is estimated, however, that 16.1% of TB disease cases in Former Soviet Union countries and 7.5% of cases outside of those settings have non-multidrug resistant (MDR) INH resistance. Resistance has been linked to poorer treatment outcomes, post-treatment relapse and death, at least for specific sites of disease. Multiple genetic loci are associated with phenotypic resistance, but the relationship between genotype and phenotype is complex. This restricts the use of rapid sequencing techniques as part of the diagnostic process to determine the most appropriate treatment regimens for patients. The burden of resistance also influences the usefulness of INH preventative therapy (IPT). Despite seven decades of the use of INH our knowledge in key areas- such as the epidemiology of resistant strains, their clinical consequences, and their exact role in fuelling the MDR TB epidemic- is limited. The importance of non-MDR INH resistance needs to be re-evaluated both globally and by national TB control programmes. PMID:28234075

Objectives, criteria and methods for using molecular genetic data in priority setting for conservation of animal genetic resources.

PubMed

Boettcher, P J; Tixier-Boichard, M; Toro, M A; Simianer, H; Eding, H; Gandini, G; Joost, S; Garcia, D; Colli, L; Ajmone-Marsan, P

2010-05-01

The genetic diversity of the world's livestock populations is decreasing, both within and across breeds. A wide variety of factors has contributed to the loss, replacement or genetic dilution of many local breeds. Genetic variability within the more common commercial breeds has been greatly decreased by selectively intense breeding programmes. Conservation of livestock genetic variability is thus important, especially when considering possible future changes in production environments. The world has more than 7500 livestock breeds and conservation of all of them is not feasible. Therefore, prioritization is needed. The objective of this article is to review the state of the art in approaches for prioritization of breeds for conservation, particularly those approaches that consider molecular genetic information, and to identify any shortcomings that may restrict their application. The Weitzman method was among the first and most well-known approaches for utilization of molecular genetic information in conservation prioritization. This approach balances diversity and extinction probability to yield an objective measure of conservation potential. However, this approach was designed for decision making across species and measures diversity as distinctiveness. For livestock, prioritization will most commonly be performed among breeds within species, so alternatives that measure diversity as co-ancestry (i.e. also within-breed variability) have been proposed. Although these methods are technically sound, their application has generally been limited to research studies; most existing conservation programmes have effectively primarily based decisions on extinction risk. The development of user-friendly software incorporating these approaches may increase their rate of utilization.

Question 1 tobacco education expenditures in Massachusetts, USA.

PubMed

Begay, M E; Glantz, S A

1997-01-01

In 1992, voters in Massachusetts (United States) approved Question 1, a state ballot initiative, which raised the state excise tax to provide funds for tobacco education. To examine Question 1 expenditures for tobacco-specific programmes in the 1994, 1995, 1996, and 1997 fiscal years. This study examined trends in Question 1 expenditures. Data were collected from the Massachusetts Department of Public Health and the Massachusetts Department of Revenue for the 1994, 1995, 1996, and 1997 fiscal years. The amount of spending on tobacco-specific programmes. Excluding the 1994 fiscal year because the state allocated 18 months of new revenues, from the 1995 fiscal year to the projected 1997 fiscal year, the state will have spent 22% of Question 1 funds for tobacco-specific programmes. Question 1 expenditures for tobacco-specific programmes have declined by 15%, whereas Question 1 expenditures for the other programmes decreased only 0.4%. The legislature has established a trend that has produced real reductions in Question 1 funding for tobacco education, which appears contrary to the mandate of the voters when they enacted Question 1 in 1992. These reductions undermine the effectiveness of tobacco-specific programmes that are an integral part of the Massachusetts Tobacco Control Programme. These results also highlight the fact that the initial compromises made after initiatives such as Question 1 are adopted have important long-term consequences for funding of tobacco control initiatives.

Brief Report: An Evaluation of an Australian Autism-Specific, Early Intervention Programme

ERIC Educational Resources Information Center

Paynter, Jessica M.; Riley, Emma P.; Beamish, Wendi; Scott, James G.; Heussler, Helen S.

2015-01-01

There is a relative paucity of evidence examining the effectiveness of early intervention for young children with Autism Spectrum Disorder, in particular those delivered through educationally-based programmes. This study aimed to evaluate the real world effectiveness of a community-based autism-specific early learning and intervention programme in…

[Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience].

PubMed

Bozkowa, K; Cabalska, B; Radomyska, B; Ołtarzewski, M; Lenartowska, I

1999-01-01

The results and the significance of neonatal mass-screening programmes for inborn errors of metabolism, conducted by the National Research Institute of Mother and Child (NRIMC), are discussed. As the first in Poland, in 1964, mass-screening for phenylketonuria (PKU) was introduced. The BIA-Guthrie test was used. Other Guthrie tests (GBIA) were applied in homocystinuria, tyrosinemia, histidinemia and leucinosis (Maple Syrup Urine Disease-MSUD). In the middle of the 60. the Beutler and Baluda test was introduced for galactosaemia, as well as the Efron urine test in infant screening for different inborn errors of metabolism. In the middle of the 70., neonatal mass-screening for cystic fibrosis (CF, mucoviscidosis) was started. Meconium tests and the sweat test with ion selective chloride electrode were used. Apart from inborn errors of metabolism, we also introduced a screening programme for neuroblastoma in which vaniline mandelic acid (VMA) in urine was estimated and for congenital hypothyroidism were TSH level was assessed. The results of screening are shown in the tables and in the figures. In our opinion the best clinical results are obtained with screening for congenital hypothyroidism and for PKU, since very early detection and treatment in these diseases prevents severe mental retardation. We therefore consider that both these screening programmes should be treated as obligatory examinations in all neonates. Taking into consideration the fact that there are different types of hyperhenylalaninemias, the principles of differential diagnosis are discussed. Molecular genetic investigations, carried out in the NRIMC Department of Genetics proved to be a very important procedure in the verification of diagnosis of different mutations. The authors also discuss the problem of dietary treatment duration in PKU. In our opinion the hypophenyloalanine diet regimen in girls, should not be discontinued during adolescence, since there is the problem of maternal PKU and the possibility of foetal damage. The results of our own investigations of maternal PKU are discussed. The significance of mass-screening for galactosemia is still under discussion. In our opinion, mass-screening for galactosemia is not useful and we have discontinued it. Selective screening has been started combined with molecular genetic studies in high risk families. In the future, we plan to prepare guidelines on the principles of diagnosis and treatment of galactosemia in children and women in the reproductive age. Mass-screening for cystic fibrosis is also still under discussion. The results of the early screening programmes were not satisfactory and the tests were discontinued. In 1998, after reorganisation of the whole system, CF screening, using tripsin-radioimmune assays, was started again. The new screening programme is combined with molecular genetic investigation of different mutations. It is still too early to assess the importance and success of this CF mass-screening programme. We decided to discontinue the screening for homocystinuria, histidinemia, tyrosinemia, leucinosis and for neuroblastoma, since these programmes did not comply with criteria of mass-screening. In 1997, major reorganisation of screening programmes for inborn errors of metabolism, at NRIMC, was undertaken. The Guthrie test for PKU was changed to a quantitative colorimetric method. The immuno-luminometric method is used for TSH estimation. The whole system is based on complete computer control of all the steps of screening, from blood sampling on filter paper until the final diagnosis. The advantages of this modern system of organisation of the screening programme are discussed.

The UNESCO Bioethics Programme: a review.

PubMed

Langlois, Adéle

2014-01-01

UNESCO's Bioethics Programme was established in 1993. In twenty years it has adopted three international declarations, on the human genome (1997), human genetic data (2003) and bioethics (2005); produced reports on a wide range of bioethics issues; and developed capacity building and public education programmes in bioethics. Yet UNESCO has sometimes struggled to assert its authority in the wider bioethics world. Some bioethicists have criticized the 2005 declaration and suggested that the World Health Organization might be better placed to advance bioethics. In 2011, after four years of debate, UNESCO decided not to draft a convention on human reproductive cloning, because consensus on the issue proved impossible. This article reviews the standard setting and capacity building activities of the UNESCO Bioethics Programme. While the Programme faces challenges common to most intergovernmental organizations, its achievements in expanding international law and building bioethics capacity should not be underestimated.

Sequence-specific antimicrobials using efficiently delivered RNA-guided nucleases.

PubMed

Citorik, Robert J; Mimee, Mark; Lu, Timothy K

2014-11-01

Current antibiotics tend to be broad spectrum, leading to indiscriminate killing of commensal bacteria and accelerated evolution of drug resistance. Here, we use CRISPR-Cas technology to create antimicrobials whose spectrum of activity is chosen by design. RNA-guided nucleases (RGNs) targeting specific DNA sequences are delivered efficiently to microbial populations using bacteriophage or bacteria carrying plasmids transmissible by conjugation. The DNA targets of RGNs can be undesirable genes or polymorphisms, including antibiotic resistance and virulence determinants in carbapenem-resistant Enterobacteriaceae and enterohemorrhagic Escherichia coli. Delivery of RGNs significantly improves survival in a Galleria mellonella infection model. We also show that RGNs enable modulation of complex bacterial populations by selective knockdown of targeted strains based on genetic signatures. RGNs constitute a class of highly discriminatory, customizable antimicrobials that enact selective pressure at the DNA level to reduce the prevalence of undesired genes, minimize off-target effects and enable programmable remodeling of microbiota.

Vets and Videos: Student Learning from Context-Based Assessment in a Pre-Clinical Science Course

ERIC Educational Resources Information Center

Seddon, Jennifer

2008-01-01

To increase the perceived relevance of pre-clinical science courses to undergraduates, a context-based assessment item was introduced to a genetics course that occurs early within a five-year veterinary science programme. The aim was to make a direct link between genetic concepts and the future clinical profession of the students. In the…

Emergence and Maintenance of Student Teachers' "Interest" within the Context of Two-Hour Lectures: An Actual Genetic Perspective

ERIC Educational Resources Information Center

Tin, Tan Bee

2009-01-01

The study investigates the actual genetic development of student teachers' interest in lectures given in a postgraduate language teacher education programme. Students recorded the nature and level of interest at various points of the lecture. The results show that students go through diverse patterns of interest trajectories and that, for the…

Epidemiology & social costs of haemophilia in India

PubMed Central

Kar, Anita; Phadnis, Supriya; Dharmarajan, Sumedha; Nakade, Juhi

2014-01-01

India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients or patients with sub-optimal treatment. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities and competencies for offering genetic counselling through a public health programme have not been reported. This review article summarizes the available Indian data, which show that the country harbours the second highest number of global patients with haemophilia A. The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. This review also identifies the need to immediately initiate a national programme for haemophilia, with components of prevention, care for patients, surveillance and education and support for families. PMID:25222774

Epidemiology & social costs of haemophilia in India.

PubMed

Kar, Anita; Phadnis, Supriya; Dharmarajan, Sumedha; Nakade, Juhi

2014-07-01

India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Haemophilia, an inherited single gene disorder with an incidence of 1 per 10,000 births, manifests as spontaneous or trauma-induced haemorrhagic episodes in patients, progressing to chronic disability and premature mortality in untreated patients or patients with sub-optimal treatment. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities and competencies for offering genetic counselling through a public health programme have not been reported. This review article summarizes the available Indian data, which show that the country harbours the second highest number of global patients with haemophilia A. The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. This review also identifies the need to immediately initiate a national programme for haemophilia, with components of prevention, care for patients, surveillance and education and support for families.

Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

PubMed

Monzani, Benedetta; Rijsdijk, Fruhling; Iervolino, Alessandra C; Anson, Martin; Cherkas, Lynn; Mataix-Cols, David

2012-06-01

Body dysmorphic disorder (BDD) is thought to be etiologically related to obsessive-compulsive disorder (OCD) but the available evidence is incomplete. The current study examined the genetic and environmental sources of covariance between body dysmorphic and obsessive-compulsive symptoms in a community sample of adult twins. A total of 2,148 female twins (1,074 pairs) completed valid and reliable measures of body dysmorphic concerns and obsessive-compulsive symptoms. The data were analyzed using bivariate twin modeling methods and the statistical programme Mx. In the best-fitting model, the covariation between body dysmorphic and obsessive-compulsive traits was largely accounted for by genetic influences common to both phenotypes (64%; 95% CI: 0.50-0.80). This genetic overlap was even higher when specific obsessive-compulsive symptom dimensions were considered, with up to 82% of the phenotypic correlation between the obsessing and symmetry/ordering symptom dimensions and dysmorphic concerns being attributable to common genetic factors. Unique environmental factors, although influencing these traits individually, did not substantially contribute to their covariation. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. The association between body dysmorphic concerns and obsessive-compulsive symptoms is largely explained by shared genetic factors. Environmental risk factors were largely unique to each phenotype. These results support current recommendations to group BDD together with OCD in the same DSM-5 chapter, although comparison with other phenotypes such as somatoform disorders and social phobia is needed. Copyright © 2012 Wiley Periodicals, Inc.

Utilising Multimedia ESP Programme in Enhancing Flight Attendants' Safety Knowledge and Problem Solving Skills

ERIC Educational Resources Information Center

Bani-Salameh, Zakaria A.; Kabilan, Muhammad K.; Bani-Salalmeh, Lina

2011-01-01

A multimedia English for Specific Purposes (ESP) programme was developed to train flight attendants. The programme comprised of two units. Unit one is listening comprehension, which provides the flight attendants' with specific information of Airbus A340. Unit two is reading comprehension, which provides the flight attendants with the emergency…

An extensive literature review of the evaluation of HIV prevention programmes.

PubMed

Coleman, L M; Ford, N J

1996-09-01

This paper draws out and distils three key themes that have emerged from a substantial bibliographical review of a range of HIV intervention programmes, implemented throughout the world between years 1987 and 1995. Specifically, the paper assesses (1) to what extent intervention programmes have been tailored to meet the requirements and needs of specific target groups; (2) to what extent intervention programmes are supported by social and psychological theory of attitudinal and behavioural change, and also to what extent the results and findings from the interventions have amended existing theory; and, finally, (3) the range of methodologies employed in evaluating intervention programmes and also to what extent behavioural measures have been used in examining a programme's effectiveness. In light of these themes, the paper presents and discusses the principal factors thought to contribute towards the effectiveness of HIV intervention programmes.

Exploring science teachers' pedagogical content knowledge in the teaching of genetics in Swaziland

NASA Astrophysics Data System (ADS)

Mthethwa-Kunene, Khetsiwe Eunice Faith

Recent trends show that learners' enrolment and performance in science at secondary school level is dwindling. Some science topics including genetics in biology are said to be difficult for learners to learn and thus they perform poorly in examinations. Teacher knowledge base, particularly topic-specific pedagogical content knowledge (PCK), has been identified by many researchers as an important factor that is linked with learner understanding and achievement in science. This qualitative study was an attempt to explore the PCK of four successful biology teachers and how they developed it in the context of teaching genetics. The purposive sampling technique was employed to select the participating teachers based on their schools' performance in biology public examinations and recommendations by science specialists and school principals. Pedagogical content knowledge was used as a theoretical framework for the study, which guided the inquiry in data collection, analysis and discussion of the research findings. The study adopted the case study method and various sources of evidence including concept maps, lesson plans, pre-lesson interviews, lesson observations, post-teaching teacher questionnaire, post-lesson interviews and document analysis were used to collect data on teachers' PCK as well as how PCK was assumed to have developed. The data were analysed in an attempt to determine the individual teachers' school genetics' content knowledge, related knowledge of instructional strategies and knowledge of learners' preconceptions and learning difficulties. The analysis involved an iterative process of coding data into PCK categories of content knowledge, pedagogical knowledge and knowledge of learners' preconceptions and learning difficulties. The findings of the study indicate that the four successful biology teachers generally have the necessary content knowledge of school genetics, used certain topic-specific instructional strategies, but lacked knowledge of genetics-related learners' preconceptions and learning difficulties despite having taught the topic for many years. There were some instructional deficits in their approaches and techniques in teaching genetics. The teachers failed to use physical models, teacher demonstration and/or learner experimentation in their lessons (or include them in their lesson plans) to assist learners in visualizing or internalizing the genetics concepts or processes located at the sub-microscopic level. The teachers' PCK in genetics teaching was assumed to have developed mainly through formal university education programmes, classroom teaching experiences, peer support and participation in in-service workshops. The implications for biology teacher education are also discussed.

Cost effectiveness analysis of screening for sight threatening diabetic eye disease

PubMed Central

James, Marilyn; Turner, David A; Broadbent, Deborah M; Vora, Jiten; Harding, Simon P

2000-01-01

Objective To measure the cost effectiveness of systematic photographic screening for sight threatening diabetic eye disease compared with existing practice. Design Cost effectiveness analysis Setting Liverpool. Subjects A target population of 5000 diabetic patients invited for screening. Main outcome measures Cost effectiveness (cost per true positive) of systematic and opportunistic programmes; incremental cost effectiveness of replacing opportunistic with systematic screening. Results Baseline prevalence of sight threatening eye disease was 14.1%. The cost effectiveness of the systematic programme was £209 (sensitivity 89%, specificity 86%, compliance 80%, annual cost £104 996) and of the opportunistic programme was £289 (combined sensitivity 63%, specificity 92%, compliance 78%, annual cost £99 981). The incremental cost effectiveness of completely replacing the opportunistic programme was £32. Absolute values of cost effectiveness were highly sensitive to varying prevalence, sensitivity and specificity, compliance, and programme size. Conclusion Replacing existing programmes with systematic screening for diabetic eye disease is justified. PMID:10856062

AAV Vectorization of DSB-mediated Gene Editing Technologies.

PubMed

Moser, Rachel J; Hirsch, Matthew L

2016-01-01

Recent work both at the bench and the bedside demonstrate zinc-finger nucleases (ZFNs), CRISPR/Cas9, and other programmable site-specific endonuclease technologies are being successfully utilized within and alongside AAV vectors to induce therapeutically relevant levels of directed gene editing within the human chromosome. Studies from past decades acknowledge that AAV vector genomes are enhanced substrates for homology-directed repair in the presence or absence of targeted DNA damage within the host genome. Additionally, AAV vectors are currently the most efficient format for in vivo gene delivery with no vector related complications in >100 clinical trials for diverse diseases. At the same time, advancements in the design of custom-engineered site-specific endonucleases and the utilization of elucidated endonuclease formats have resulted in efficient and facile genetic engineering for basic science and for clinical therapies. AAV vectors and gene editing technologies are an obvious marriage, using AAV for the delivery of repair substrate and/or a gene encoding a designer endonuclease; however, while efficient delivery and enhanced gene targeting by vector genomes are advantageous, other attributes of AAV vectors are less desirable for gene editing technologies. This review summarizes the various roles that AAV vectors play in gene editing technologies and provides insight into its trending applications for the treatment of genetic diseases.

Genetic and silvicultural research promoting common walnut (Juglans regia) for timber production in the United Kingdom

Treesearch

Gabriel E. Hemery

2004-01-01

A combination of genetic and silvicultural research is required to improve the viability of common walnut for timber production in the UK. A summary of a research programme, initiated in 1996, is provided. Establishment of walnut plantations using tree shelters indicated positive benefits using 0.75 m shelters but larger shelters (1.20 m) caused early flushing and...

Impact of educational programme regarding chelation therapy on the quality of life for B-thalassemia major children.

PubMed

Abu Samra, Omayma; Auda, Wafaa; Kamhawy, Heba; Al-Tonbary, Youssef

2015-06-01

Objectives Thalassemia is the most common genetic disorder in Egypt, with an estimated carrier rate of 9-10%. It is a genetic blood disorder which can be fatal if proper chelation is not received. The introduction of chelating agents capable of removing excessive iron from the body has dramatically increased life expectancy and improved the overall quality of life. The aim of this study was to assess the impact of educational programmes regarding chelation therapy on the quality of life of thalassemic children. Methods The study was carried out at the Mansoura University Children's Hospital in the period between March 2010 and May 2011. It included 173 B-thalassemia children (84 boys and 89 girls) with age ranging between 8-18 years. The researcher used a predesigned interviewing questionnaire to collect data regarding children's knowledge about thalassemia and its management, especially regarding chelation therapy. The paediatric quality-of-life inventory tool (Peds QL 4.0 generic core) was also used to assess the studied children's quality of life. Results There was a significant statistical difference of the studied children's knowledge regarding chelation therapy and their quality of life. Conclusion There was a positive effect of the educational programme in improving children's knowledge score and their quality of life. Application of educational programmes for thalassemic children and their nurses regarding chelation therapy and its importance in preventing thalassemia complications is established.

Guidance on individual monitoring programmes for radioisotopic techniques in molecular and cellular biology.

PubMed

Macías, M T; Navarro, T; Lavara, A; Robredo, L M; Sierra, I; Lopez, M A

2003-01-01

The radioisotope techniques used in molecular and cellular biology involve external and internal irradiation risk. The personal dosemeter may be a reasonable indicator for external irradiation. However, it is necessary to control the possible internal contamination associated with the development of these techniques. The aim of this project is to analyse the most usual techniques and to establish programmes of internal monitoring for specific radionuclides (32P, 35S, 14C, 3H, 125I and 131I). To elaborate these programmes it was necessary to analyse the radioisotope techniques. Two models have been applied (NRPB and IAEA) to the more significant techniques, according to the physical and chemical nature of the radionuclides, their potential importance in occupational exposure and the possible injury to the genetic material of the cell. The results allowed the identification of the techniques with possible risk of internal contamination. It was necessary to identify groups of workers that require individual monitoring. The risk groups have been established among the professionals exposed, according to different parameters: the general characteristics of receptor, the radionuclides used (the same user can work with one, two or three radionuclides at the same time) and the results of the models applied. Also a control group was established. The study of possible intakes in these groups has been made by urinalysis and whole-body counter. The theoretical results are coherent with the experimental results. They have allowed guidance to individual monitoring to be proposed. Basically, the document shows: (1) the analysis of the radiosotopic techniques, taking into account the special containment equipment; (2) the establishment of the need of individual monitoring; and (3) the required frequency of measurements in a routine programme.

Evolution of Analog Circuits on Field Programmable Transistor Arrays

NASA Technical Reports Server (NTRS)

Stoica, A.; Keymeulen, D.; Zebulum, R.; Thakoor, A.; Daud, T.; Klimeck, G.; Jin, Y.; Tawel, R.; Duong, V.

2000-01-01

Evolvable Hardware (EHW) refers to HW design and self-reconfiguration using evolutionary/genetic mechanisms. The paper presents an overview of some key concepts of EHW, describing also a set of selected applications.

An integrated Diet Monitoring Solution for nutrigenomic research.

PubMed

Conti, Costanza; Rossi, Elena; Marceglia, Sara; Tauro, Vittorio; Rizzi, Federica; Lazzaroni, Monica; Barlassina, Cristina; Soldati, Laura; Cusi, Daniele

2015-01-01

The emergence of evidence pointing at diet as key risk factor for chronic diseases and at gene-diet interactions as key elements in the interplay between an individual genetic background and his/her lifestyle, pave the way for studies in nutrigenomics. Such studies need an integrated solution to collect, monitor and analyse a large set of data. In the frame of ATHENA, a European Commission FP7 project, we developed an integrated platform, called Dietary Monitoring Solution enabling the collection of phenotypic, genetic and lifestyle information, linked to a mHealth application tool. The data collection solution allows maintaining anonymized information and supports a number of features making it particularly suited for multicentre studies. The mHealth application was designed to translate the knowledge generated from research into a personalised prevention programme and to support the patient adherence to the programme.

Culture-specific programs for children and adults from minority groups who have asthma.

PubMed

Bailey, Emily J; Cates, Christopher J; Kruske, Sue G; Morris, Peter S; Chang, Anne B; Brown, Ngiare

2009-01-21

People with asthma who come from minority groups have poorer asthma outcomes and more asthma related visits to Emergency Departments (ED). Various programmes are used to educate and empower people with asthma and these have previously been shown to improve certain asthma outcomes. Models of care for chronic diseases in minority groups usually include a focus of the cultural context of the individual and not just the symptoms of the disease. Therefore, questions about whether culturally specific asthma education programmes for people from minority groups are effective at improving asthma outcomes, are feasible and are cost-effective need to be answered. To determine whether culture-specific asthma programmes, in comparison to generic asthma education programmes or usual care, improve asthma related outcomes in children and adults with asthma who belong to minority groups. We searched the Cochrane Register of Controlled Trials (CENTRAL), the Cochrane Airways Group Specialised Register, MEDLINE, EMBASE, review articles and reference lists of relevant articles. The latest search was performed in May 2008. All randomised controlled trials (RCTs) comparing the use of culture-specific asthma education programmes with generic asthma education programmes, or usual care, in adults or children from minority groups who suffer from asthma. Two review authors independently selected, extracted and assessed the data for inclusion. We contacted authors for further information if required. Four studies were eligible for inclusion in the review. A total of 617 patients, aged from 5 to 59 years were included in the meta-analysis of data. Use of a culture-specific programme was superior to generic programmes or usual care, in improving asthma quality of life scores in adults, pooled WMD 0.25 (95% CI 0.09 to 0.41), asthma knowledge scores in children, WMD 3.30 (95% CI 1.07 to 5.53), and in a single study, reducing asthma exacerbation in children (risk ratio for hospitalisations 0.32, 95%CI 0.15, 0.70). Current limited data show that culture-specific programmes for adults and children from minority groups with asthma, are more effective than generic programmes in improving most (quality of life, asthma knowledge, asthma exacerbations, asthma control) but not all asthma outcomes. This evidence is limited by the small number of included studies and the lack of reported outcomes. Further trials are required to answer this question conclusively.

Culture-specific programs for children and adults from minority groups who have asthma.

PubMed

Bailey, Emily J; Cates, Christopher J; Kruske, Sue G; Morris, Peter S; Brown, Ngiare; Chang, Anne B

2009-04-15

People with asthma who come from minority groups have poorer asthma outcomes and more asthma related visits to Emergency Departments (ED). Various programmes are used to educate and empower people with asthma and these have previously been shown to improve certain asthma outcomes. Models of care for chronic diseases in minority groups usually include a focus of the cultural context of the individual and not just the symptoms of the disease. Therefore, questions about whether culturally specific asthma education programmes for people from minority groups are effective at improving asthma outcomes, are feasible and are cost-effective need to be answered. To determine whether culture-specific asthma programmes, in comparison to generic asthma education programmes or usual care, improve asthma related outcomes in children and adults with asthma who belong to minority groups. We searched the Cochrane Register of Controlled Trials (CENTRAL), the Cochrane Airways Group Specialised Register, MEDLINE, EMBASE, review articles and reference lists of relevant articles. The latest search was performed in May 2008. All randomised controlled trials (RCTs) comparing the use of culture-specific asthma education programmes with generic asthma education programmes, or usual care, in adults or children from minority groups who suffer from asthma. Two review authors independently selected, extracted and assessed the data for inclusion. We contacted authors for further information if required. Four studies were eligible for inclusion in the review. A total of 617 patients, aged from 5 to 59 years were included in the meta-analysis of data. Use of a culture-specific programme was superior to generic programmes or usual care, in improving asthma quality of life scores in adults, pooled WMD 0.25 (95% CI 0.09 to 0.41), asthma knowledge scores in children, WMD 3.30 (95% CI 1.07 to 5.53), and in a single study, reducing asthma exacerbation in children (risk ratio for hospitalisations 0.32, 95%CI 0.15, 0.70). Current limited data show that culture-specific programmes for adults and children from minority groups with asthma, are more effective than generic programmes in improving most (quality of life, asthma knowledge, asthma exacerbations, asthma control) but not all asthma outcomes. This evidence is limited by the small number of included studies and the lack of reported outcomes. Further trials are required to answer this question conclusively.

Specifications of the International Cooperation Administration for DDT water-dispersible powder for use in malaria control programmes

PubMed Central

Pearce, George W.; Gooden, E. L.; Johnson, Donald R.

1959-01-01

Background information is presented on the development of specifications for 75% DDT water-dispersible powder for use in malaria control programmes supported by the International Cooperation Administration (ICA) of the United States Government. Early difficulties with DDT powders used in these programmes were investigated and it was found that the most critical requirements involved packaging, suspensibility and storage stability. ICA specifications were evolved to meet these requirements. The suspensibility test developed is described, and the importance of inspection of the material procured is discussed. PMID:14431217

Validation of standard operating procedures in a multicenter retrospective study to identify -omics biomarkers for chronic low back pain.

PubMed

Dagostino, Concetta; De Gregori, Manuela; Gieger, Christian; Manz, Judith; Gudelj, Ivan; Lauc, Gordan; Divizia, Laura; Wang, Wei; Sim, Moira; Pemberton, Iain K; MacDougall, Jane; Williams, Frances; Van Zundert, Jan; Primorac, Dragan; Aulchenko, Yurii; Kapural, Leonardo; Allegri, Massimo

2017-01-01

Chronic low back pain (CLBP) is one of the most common medical conditions, ranking as the greatest contributor to global disability and accounting for huge societal costs based on the Global Burden of Disease 2010 study. Large genetic and -omics studies provide a promising avenue for the screening, development and validation of biomarkers useful for personalized diagnosis and treatment (precision medicine). Multicentre studies are needed for such an effort, and a standardized and homogeneous approach is vital for recruitment of large numbers of participants among different centres (clinical and laboratories) to obtain robust and reproducible results. To date, no validated standard operating procedures (SOPs) for genetic/-omics studies in chronic pain have been developed. In this study, we validated an SOP model that will be used in the multicentre (5 centres) retrospective "PainOmics" study, funded by the European Community in the 7th Framework Programme, which aims to develop new biomarkers for CLBP through three different -omics approaches: genomics, glycomics and activomics. The SOPs describe the specific procedures for (1) blood collection, (2) sample processing and storage, (3) shipping details and (4) cross-check testing and validation before assays that all the centres involved in the study have to follow. Multivariate analysis revealed the absolute specificity and homogeneity of the samples collected by the five centres for all genetics, glycomics and activomics analyses. The SOPs used in our multicenter study have been validated. Hence, they could represent an innovative tool for the correct management and collection of reliable samples in other large-omics-based multicenter studies.

Exploiting genetic diversity from landraces in wheat breeding for adaptation to climate change.

PubMed

Lopes, Marta S; El-Basyoni, Ibrahim; Baenziger, Peter S; Singh, Sukhwinder; Royo, Conxita; Ozbek, Kursad; Aktas, Husnu; Ozer, Emel; Ozdemir, Fatih; Manickavelu, Alagu; Ban, Tomohiro; Vikram, Prashant

2015-06-01

Climate change has generated unpredictability in the timing and amount of rain, as well as extreme heat and cold spells that have affected grain yields worldwide and threaten food security. Sources of specific adaptation related to drought and heat, as well as associated breeding of genetic traits, will contribute to maintaining grain yields in dry and warm years. Increased crop photosynthesis and biomass have been achieved particularly through disease resistance and healthy leaves. Similarly, sources of drought and heat adaptation through extended photosynthesis and increased biomass would also greatly benefit crop improvement. Wheat landraces have been cultivated for thousands of years under the most extreme environmental conditions. They have also been cultivated in lower input farming systems for which adaptation traits, particularly those that increase the duration of photosynthesis, have been conserved. Landraces are a valuable source of genetic diversity and specific adaptation to local environmental conditions according to their place of origin. Evidence supports the hypothesis that landraces can provide sources of increased biomass and thousand kernel weight, both important traits for adaptation to tolerate drought and heat. Evaluation of wheat landraces stored in gene banks with highly beneficial untapped diversity and sources of stress adaptation, once characterized, should also be used for wheat improvement. Unified development of databases and promotion of data sharing among physiologists, pathologists, wheat quality scientists, national programmes, and breeders will greatly benefit wheat improvement for adaptation to climate change worldwide. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Uncovering the transmission dynamics of Plasmodium vivax using population genetics

PubMed Central

Barry, Alyssa E.; Waltmann, Andreea; Koepfli, Cristian; Barnadas, Celine; Mueller, Ivo

2015-01-01

Population genetic analysis of malaria parasites has the power to reveal key insights into malaria epidemiology and transmission dynamics with the potential to deliver tools to support control and elimination efforts. Analyses of parasite genetic diversity have suggested that Plasmodium vivax populations are more genetically diverse and less structured than those of Plasmodium falciparum indicating that P. vivax may be a more ancient parasite of humans and/or less susceptible to population bottlenecks, as well as more efficient at disseminating its genes. These population genetic insights into P. vivax transmission dynamics provide an explanation for its relative resilience to control efforts. Here, we describe current knowledge on P. vivax population genetic structure, its relevance to understanding transmission patterns and relapse and how this information can inform malaria control and elimination programmes. PMID:25891915

The delivery of injury prevention exercise programmes in professional youth soccer: Comparison to the FIFA 11.

PubMed

O'Brien, James; Young, Warren; Finch, Caroline F

2017-01-01

Injury prevention exercise programmes for amateur soccer have gained considerable attention, but little is known about their relevance and adaptability to professional soccer settings. The first aim of this study was to evaluate the delivery and content of injury prevention exercise programmes used by professional youth soccer teams, compared to the industry standard injury prevention exercise programme for soccer, the Fédération Internationale de Football Association's FIFA 11+. The second aim was to document specific challenges to implementing injury prevention exercise programmes in this context. Prospective observational study. The participants were soccer coaches, fitness coaches and physiotherapists (n=18) from four teams in a professional youth soccer academy. Each team's chosen injury prevention exercise programmes were observed weekly across an entire soccer season (160 sessions). The delivery and content of the programmes were documented on a standardised worksheet and compared to the FIFA 11+. Specific implementation challenges were recorded. Fitness coaches were the primary deliverers of injury prevention exercise programmes, with support from physiotherapists. Multiple delivery formats and locations were employed, along with the extensive use of equipment. Across all injury prevention exercise programme sessions, a median of one FIFA 11+ exercise was performed in its original form and a further four in a modified form. Implementation challenges included poor staff communication, competing training priorities and heavy game schedules. Although the basic components of the FIFA 11+ hold relevance for professional youth male teams, the delivery and content of injury prevention exercise programmes require considerable tailoring for this context. Recognising this will inform the development of improved, context-specific injury prevention exercise programmes, along with corresponding strategies to enhance their implementation. Copyright © 2016 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

Nature and impact of European anti-stigma depression programmes.

PubMed

Quinn, Neil; Knifton, Lee; Goldie, Isabella; van Bortel, Tine; Dowds, Julie; Lasalvia, Antonio; Scheerder, Gert; Boumans, Jenny; Svab, Vesna; Lanfredi, Mariangela; Wahlbeck, Kristian; Thornicroft, Graham

2014-09-01

Stigma associated with depression is a major public health issue in the EU, with over 20 million people experiencing depression and its associated personal distress each year. While most programmes against stigma related to mental health problems are of a general nature, the knowledge about programmes tackling stigma against people with depression is limited. This study therefore aims to assess the nature and impact of depression-specific programmes in EU countries. Using a web-based tool, 26 programmes were identified across the 18 EU countries taking part in the study. Most were universal and targeted the whole population, while many also targeted specific population groups or settings, such as young people or health professionals. The most common programme aim was improving literacy, although reducing stigmatizing attitudes and discriminatory behaviour and promoting help-seeking were also common. Most programmes originated from professional bodies, or as grassroots initiatives from service user groups/NGOs, rather than as part of national and local policy. The approaches used were primarily different forms of education/information, with some, but very limited, use of positive personal contact. Overall, the quality and extent of impact of the programmes was limited, with few leading to peer-reviewed publications. Specific programmes were identified with evidence of positive impact, and we drew on these examples to develop a framework to be used for future programmes against stigma and discrimination associated with depression. These findings are provided in full in the Anti-Stigma Partnership European Network Toolkit available at www.antistigma.eu. © The Author (2013). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Wild European apple (Malus sylvestris (L.) Mill.) population dynamics: insight from genetics and ecology in the Rhine Valley. Priorities for a future conservation programme.

PubMed

Schnitzler, Annik; Arnold, Claire; Cornille, Amandine; Bachmann, Olivier; Schnitzler, Christophe

2014-01-01

The increasing fragmentation of forest habitats and the omnipresence of cultivars potentially threaten the genetic integrity of the European wild apple (Malus sylvestris (L.) Mill). However, the conservation status of this species remains unclear in Europe, other than in Belgium and the Czech Republic, where it has been declared an endangered species. The population density of M. sylvestris is higher in the forests of the upper Rhine Valley (France) than in most European forests, with an unbalanced age-structure, an overrepresentation of adults and a tendency to clump. We characterize here the ecology, age-structure and genetic diversity of wild apple populations in the Rhine Valley. We use these data to highlight links to the history of this species and to propose guidelines for future conservation strategies. In total, 255 individual wild apple trees from six forest stands (five floodplain forests and one forest growing in drier conditions) were analysed in the field, collected and genotyped on the basis of data for 15 microsatellite markers. Genetic analyses showed no escaped cultivars and few hybrids with the cultivated apple. Excluding the hybrids, the genetically "pure" populations displayed high levels of genetic diversity and a weak population structure. Age-structure and ecology studies of wild apple populations identified four categories that were not randomly distributed across the forests, reflecting the history of the Rhine forest over the last century. The Rhine wild apple populations, with their ecological strategies, high genetic diversity, and weak traces of crop-to-wild gene flow associated with the history of these floodplain forests, constitute candidate populations for inclusion in future conservation programmes for European wild apple.

Wild European Apple (Malus sylvestris (L.) Mill.) Population Dynamics: Insight from Genetics and Ecology in the Rhine Valley. Priorities for a Future Conservation Programme

PubMed Central

Schnitzler, Annik; Arnold, Claire; Cornille, Amandine; Bachmann, Olivier; Schnitzler, Christophe

2014-01-01

The increasing fragmentation of forest habitats and the omnipresence of cultivars potentially threaten the genetic integrity of the European wild apple (Malus sylvestris (L.) Mill). However, the conservation status of this species remains unclear in Europe, other than in Belgium and the Czech Republic, where it has been declared an endangered species. The population density of M. sylvestris is higher in the forests of the upper Rhine Valley (France) than in most European forests, with an unbalanced age-structure, an overrepresentation of adults and a tendency to clump. We characterize here the ecology, age-structure and genetic diversity of wild apple populations in the Rhine Valley. We use these data to highlight links to the history of this species and to propose guidelines for future conservation strategies. In total, 255 individual wild apple trees from six forest stands (five floodplain forests and one forest growing in drier conditions) were analysed in the field, collected and genotyped on the basis of data for 15 microsatellite markers. Genetic analyses showed no escaped cultivars and few hybrids with the cultivated apple. Excluding the hybrids, the genetically “pure” populations displayed high levels of genetic diversity and a weak population structure. Age-structure and ecology studies of wild apple populations identified four categories that were not randomly distributed across the forests, reflecting the history of the Rhine forest over the last century. The Rhine wild apple populations, with their ecological strategies, high genetic diversity, and weak traces of crop-to-wild gene flow associated with the history of these floodplain forests, constitute candidate populations for inclusion in future conservation programmes for European wild apple. PMID:24827575

Programmable single-cell mammalian biocomputers.

PubMed

Ausländer, Simon; Ausländer, David; Müller, Marius; Wieland, Markus; Fussenegger, Martin

2012-07-05

Synthetic biology has advanced the design of standardized control devices that program cellular functions and metabolic activities in living organisms. Rational interconnection of these synthetic switches resulted in increasingly complex designer networks that execute input-triggered genetic instructions with precision, robustness and computational logic reminiscent of electronic circuits. Using trigger-controlled transcription factors, which independently control gene expression, and RNA-binding proteins that inhibit the translation of transcripts harbouring specific RNA target motifs, we have designed a set of synthetic transcription–translation control devices that could be rewired in a plug-and-play manner. Here we show that these combinatorial circuits integrated a two-molecule input and performed digital computations with NOT, AND, NAND and N-IMPLY expression logic in single mammalian cells. Functional interconnection of two N-IMPLY variants resulted in bitwise intracellular XOR operations, and a combinatorial arrangement of three logic gates enabled independent cells to perform programmable half-subtractor and half-adder calculations. Individual mammalian cells capable of executing basic molecular arithmetic functions isolated or coordinated to metabolic activities in a predictable, precise and robust manner may provide new treatment strategies and bio-electronic interfaces in future gene-based and cell-based therapies.

New insights into the molecular epidemiology and population genetics of Schistosoma mansoni in Ugandan pre-school children and mothers.

PubMed

Betson, Martha; Sousa-Figueiredo, Jose C; Kabatereine, Narcis B; Stothard, J Russell

2013-01-01

Significant numbers of pre-school children are infected with Schistosoma mansoni in sub-Saharan Africa and are likely to play a role in parasite transmission. However, they are currently excluded from control programmes. Molecular phylogenetic studies have provided insights into the evolutionary origins and transmission dynamics of S. mansoni, but there has been no research into schistosome molecular epidemiology in pre-school children. Here, we investigated the genetic diversity and population structure of S. mansoni in pre-school children and mothers living in lakeshore communities in Uganda and monitored for changes over time after praziquantel treatment. Parasites were sampled from children (<6 years) and mothers enrolled in the longitudinal Schistosomiasis Mothers and Infants Study at baseline and at 6-, 12- and 18-month follow-up surveys. 1347 parasites from 35 mothers and 45 children were genotyped by direct sequencing of the cytochrome c oxidase (cox1) gene. The cox1 region was highly diverse with over 230 unique sequences identified. Parasite populations were genetically differentiated between lakes and non-synonymous mutations were more diverse at Lake Victoria than Lake Albert. Surprisingly, parasite populations sampled from children showed a similar genetic diversity to those sampled from mothers, pointing towards a non-linear relationship between duration of exposure and accumulation of parasite diversity. The genetic diversity six months after praziquantel treatment was similar to pre-treatment diversity. Our results confirm the substantial genetic diversity of S. mansoni in East Africa and provide significant insights into transmission dynamics within young children and mothers, important information for schistosomiasis control programmes.

Conceptual approaches to avian navigation systems.

PubMed

Wallraff, H G

1991-01-01

The general basis of migratory orientation in birds is most probably an endogenous time-and-direction programme. Directions are selected with respect to celestial as well as geomagnetic clues. These clues appear to be integrated within a system that profits from the special advantages of either kind of environmental signal, and thereby can cope with their limitations. Using these clues, and following a genetically determined intended direction (or sequence of directions) over a genetically determined period of time, a bird may reach a larger population-specific area. However, it will hardly be able to find a particular location, such as, for instance, its previous breeding site. Homing to a familiar site over several hundred kilometers of unfamiliar terrain is substantially based on the smelling of atmospheric trace compounds. At shorter distances from home, orientation by means of--presumably visual--familiar landmarks completes the repertoire of mechanisms guiding a bird back home. These mechanisms are considered to be based on different kinds of 'maps' and 'compasses'. Conceptual approaches to the properties of an 'olfactory map' have as yet only reached an early state of speculation.

Splicing factor SRSF3 is crucial for hepatocyte differentiation and metabolic function

PubMed Central

Sen, Supriya; Jumaa, Hassan; Webster, Nicholas J.G.

2015-01-01

SR family RNA binding proteins regulate splicing of nascent RNAs in vitro but their physiological role in vivo is largely unexplored, as genetic deletion of many SR protein genes results in embryonic lethality. Here we show that SRSF3HKO mice carrying a hepatocyte-specific deletion of Srsf3 (homologous to human SRSF3/SRp20) have a disrupted hepatic architecture and show pre- and postnatal growth retardation. SRSF3HKO mice exhibit impaired hepatocyte maturation with alterations in glucose and lipid homeostasis characterized by reduced glycogen storage, fasting hypoglycemia, increased insulin sensitivity and reduced cholesterol synthesis. We identify various splicing alterations in the SRSF3HKO liver that explain the in vivo phenotype. In particular, loss of SRSF3 causes aberrant splicing of Hnf1α, Ern1, Hmgcs1, Dhcr7 and Scap genes, which are critical regulators of glucose and lipid metabolism. Our study provides the first evidence for a SRSF3-driven genetic programme required for morphological and functional differentiation of hepatocytes that may have relevance for human liver disease and metabolic dysregulation. PMID:23299886

Pollen-mediated gene flow and fine-scale spatial genetic structure in Olea europaea subsp. europaea var. sylvestris

PubMed Central

Piotti, A.; Satovic, Z.; de la Rosa, R.; Belaj, A.

2017-01-01

Abstract Background and Aims Wild olive (Olea europaea subsp. europaea var. sylvestris) is important from an economic and ecological point of view. The effects of anthropogenic activities may lead to the genetic erosion of its genetic patrimony, which has high value for breeding programmes. In particular, the consequences of the introgression from cultivated stands are strongly dependent on the extent of gene flow and therefore this work aims at quantitatively describing contemporary gene flow patterns in wild olive natural populations. Methods The studied wild population is located in an undisturbed forest, in southern Spain, considered one of the few extant hotspots of true oleaster diversity. A total of 225 potential father trees and seeds issued from five mother trees were genotyped by eight microsatellite markers. Levels of contemporary pollen flow, in terms of both pollen immigration rates and within-population dynamics, were measured through paternity analyses. Moreover, the extent of fine-scale spatial genetic structure (SGS) was studied to assess the relative importance of seed and pollen dispersal in shaping the spatial distribution of genetic variation. Key Results The results showed that the population under study is characterized by a high genetic diversity, a relatively high pollen immigration rate (0·57), an average within-population pollen dispersal of about 107 m and weak but significant SGS up to 40 m. The population is a mosaic of several intermingled genetic clusters that is likely to be generated by spatially restricted seed dispersal. Moreover, wild oleasters were found to be self-incompatible and preferential mating between some genotypes was revealed. Conclusions Knowledge of the within-population genetic structure and gene flow dynamics will lead to identifying possible strategies aimed at limiting the effect of anthropogenic activities and improving breeding programmes for the conservation of olive tree forest genetic resources. PMID:28028015

Pollen-mediated gene flow and fine-scale spatial genetic structure in Olea europaea subsp. europaea var. sylvestris.

PubMed

Beghè, D; Piotti, A; Satovic, Z; de la Rosa, R; Belaj, A

2017-03-01

Wild olive ( Olea europaea subsp. europaea var. sylvestris ) is important from an economic and ecological point of view. The effects of anthropogenic activities may lead to the genetic erosion of its genetic patrimony, which has high value for breeding programmes. In particular, the consequences of the introgression from cultivated stands are strongly dependent on the extent of gene flow and therefore this work aims at quantitatively describing contemporary gene flow patterns in wild olive natural populations. The studied wild population is located in an undisturbed forest, in southern Spain, considered one of the few extant hotspots of true oleaster diversity. A total of 225 potential father trees and seeds issued from five mother trees were genotyped by eight microsatellite markers. Levels of contemporary pollen flow, in terms of both pollen immigration rates and within-population dynamics, were measured through paternity analyses. Moreover, the extent of fine-scale spatial genetic structure (SGS) was studied to assess the relative importance of seed and pollen dispersal in shaping the spatial distribution of genetic variation. The results showed that the population under study is characterized by a high genetic diversity, a relatively high pollen immigration rate (0·57), an average within-population pollen dispersal of about 107 m and weak but significant SGS up to 40 m. The population is a mosaic of several intermingled genetic clusters that is likely to be generated by spatially restricted seed dispersal. Moreover, wild oleasters were found to be self-incompatible and preferential mating between some genotypes was revealed. Knowledge of the within-population genetic structure and gene flow dynamics will lead to identifying possible strategies aimed at limiting the effect of anthropogenic activities and improving breeding programmes for the conservation of olive tree forest genetic resources. © The Author 2016. Published by Oxford University Press on behalf of the Annals of Botany Company. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Consequences of a screening programme on the prevalence of congenital hereditary sensorineural deafness in the Australian Cattle Dog.

PubMed

Sommerlad, S F; Morton, J M; Johnstone, I; O'Leary, C A; Seddon, J M

2014-12-01

Genetic disease testing programmes are used in domestic animal breeds to guide selective breeding with the aim of reducing disease prevalence. We assessed the change in the prevalence of canine congenital hereditary sensorineural deafness (CHSD) in litters of Australian Cattle Dogs following the introduction of a brainstem auditory evoked response (BAER) testing programme. We studied 608 pups from 122 litters from 10 breeding kennels. Despite 10 years of testing (1998-2008), no substantial reduction in prevalence of CHSD was evident in these 10 breeding kennels. Even for the subset of litters in which both parents were BAER tested as normal hearing (305 pups from 58 litters), there was no evidence of substantial reduction in prevalence. Odds ratios for CHSD in pups for each extra year since testing in the kennel commenced were 1.01 (95% CI, 0.88-1.17) and 1.03 (95% CI, 0.82-1.30) respectively for these populations. Amongst 284 dogs from 54 litters with extended pedigrees and both parents BAER-tested normal hearing, observed prevalences of CHSD were highest in pups with no BAER-tested normal grandparents (17% or 5/29) and lowest in pups with all four grandparents tested normal (0% or 0/9). In pups for which one, two and three grandparents tested negative, prevalences of CHSD were 12% (9/74), 9% (9/101) and 8% (6/71) respectively. Hence, testing programmes based on phenotypic screening may not lead to a substantial reduction in recessive genetic disease prevalence over the medium term, even when only tested normal parents are used. Exclusive breeding of litters in which both parents and all four grandparents are BAER-tested normal is expected to reduce CHSD prevalence in pups to the greatest extent over the long term. © 2014 Stichting International Foundation for Animal Genetics.

Health system changes under pay-for-performance: the effects of Rwanda's national programme on facility inputs.

PubMed

Ngo, Diana K L; Sherry, Tisamarie B; Bauhoff, Sebastian

2017-02-01

Pay-for-performance (P4P) programmes have been introduced in numerous developing countries with the goal of increasing the provision and quality of health services through financial incentives. Despite the popularity of P4P, there is limited evidence on how providers achieve performance gains and how P4P affects health system quality by changing structural inputs. We explore these two questions in the context of Rwanda's 2006 national P4P programme by examining the programme's impact on structural quality measures drawn from international and national guidelines. Given the programme's previously documented success at increasing institutional delivery rates, we focus on a set of delivery-specific and more general structural inputs. Using the programme's quasi-randomized roll-out, we apply multivariate regression analysis to short-run facility data from the 2007 Service Provision Assessment. We find positive programme effects on the presence of maternity-related staff, the presence of covered waiting areas and a management indicator and a negative programme effect on delivery statistics monitoring. We find no effects on a set of other delivery-specific physical resources, delivery-specific human resources, delivery-specific operations, general physical resources and general human resources. Using mediation analysis, we find that the positive input differences explain a small and insignificant fraction of P4P's impact on institutional delivery rates. The results suggest that P4P increases provider availability and facility operations but is only weakly linked with short-run structural health system improvements overall. © The Author 2016. Published by Oxford University Press in association with The London School of Hygiene and Tropical Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Tuning of active vibration controllers for ACTEX by genetic algorithm

NASA Astrophysics Data System (ADS)

Kwak, Moon K.; Denoyer, Keith K.

1999-06-01

This paper is concerned with the optimal tuning of digitally programmable analog controllers on the ACTEX-1 smart structures flight experiment. The programmable controllers for each channel include a third order Strain Rate Feedback (SRF) controller, a fifth order SRF controller, a second order Positive Position Feedback (PPF) controller, and a fourth order PPF controller. Optimal manual tuning of several control parameters can be a difficult task even though the closed-loop control characteristics of each controller are well known. Hence, the automatic tuning of individual control parameters using Genetic Algorithms is proposed in this paper. The optimal control parameters of each control law are obtained by imposing a constraint on the closed-loop frequency response functions using the ACTEX mathematical model. The tuned control parameters are then uploaded to the ACTEX electronic control electronics and experiments on the active vibration control are carried out in space. The experimental results on ACTEX will be presented.

Comparison of two training programmes on paramedic-delivered CPR performance.

PubMed

Govender, Kevin; Sliwa, Karen; Wallis, Lee; Pillay, Yugan

2016-05-01

To compare CPR performance in two groups of paramedics who received CPR training from two different CPR training programmes. Conducted in June 2014 at the Hamad Medical Corporation Ambulance Service, the national ambulance service of the State of Qatar, the CPR performances of 149 new paramedic recruits were evaluated after they had received training from either a traditional CPR programme or a tailored CPR programme. Both programmes taught the same content but differed in the way in which this content was delivered to learners. Exclusive to the tailored programme was mandatory precourse work, continuous assessments, a locally developed CPR instructional video and pedagogical activities tailored to the background education and learner style preferences of paramedics. At the end of each respective training programme, a single examiner who was blinded to the type of training paramedics had received, rated them as competent or non-competent on basic life support skills, condition specific skills, specific overall skills and non-technical skills during a simulated out-of-hospital cardiac arrest (OHCA) assessment. Paramedics who received CPR training with the tailored programme were rated competent 70.9% of the time, compared with paramedics who attended the traditional programme and who achieved this rating 7.9% of the time (p<0.001). Specific improvements were seen in the time required to detect cardiac arrest, chest compression quality, and time to first monitored rhythm and delivered shock. In an OHCA scenario, CPR performance rated as competent was significantly higher when training was received using a tailored CPR programme. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Landscape genetics and the spatial distribution of chronic wasting disease

USGS Publications Warehouse

Blanchong, Julie A.; Samuel, M.D.; Scribner, K.T.; Weckworth, B.V.; Langenberg, J.A.; Filcek, K.B.

2008-01-01

Predicting the spread of wildlife disease is critical for identifying populations at risk, targeting surveillance and designing proactive management programmes. We used a landscape genetics approach to identify landscape features that influenced gene flow and the distribution of chronic wasting disease (CWD) in Wisconsin white-tailed deer. CWD prevalence was negatively correlated with genetic differentiation of study area deer from deer in the area of disease origin (core-area). Genetic differentiation was greatest, and CWD prevalence lowest, in areas separated from the core-area by the Wisconsin River, indicating that this river reduced deer gene flow and probably disease spread. Features of the landscape that influence host dispersal and spatial patterns of disease can be identified based on host spatial genetic structure. Landscape genetics may be used to predict high-risk populations based on their genetic connection to infected populations and to target disease surveillance, control and preventative activities. ?? 2007 The Royal Society.

Review: Towards the agroecological management of ruminants, pigs and poultry through the development of sustainable breeding programmes. II. Breeding strategies.

PubMed

Phocas, F; Belloc, C; Bidanel, J; Delaby, L; Dourmad, J Y; Dumont, B; Ezanno, P; Fortun-Lamothe, L; Foucras, G; Frappat, B; González-García, E; Hazard, D; Larzul, C; Lubac, S; Mignon-Grasteau, S; Moreno, C R; Tixier-Boichard, M; Brochard, M

2016-11-01

Agroecology uses ecological processes and local resources rather than chemical inputs to develop productive and resilient livestock and crop production systems. In this context, breeding innovations are necessary to obtain animals that are both productive and adapted to a broad range of local contexts and diversity of systems. Breeding strategies to promote agroecological systems are similar for different animal species. However, current practices differ regarding the breeding of ruminants, pigs and poultry. Ruminant breeding is still an open system where farmers continue to choose their own breeds and strategies. Conversely, pig and poultry breeding is more or less the exclusive domain of international breeding companies which supply farmers with hybrid animals. Innovations in breeding strategies must therefore be adapted to the different species. In developed countries, reorienting current breeding programmes seems to be more effective than developing programmes dedicated to agroecological systems that will struggle to be really effective because of the small size of the populations currently concerned by such systems. Particular attention needs to be paid to determining the respective usefulness of cross-breeding v. straight breeding strategies of well-adapted local breeds. While cross-breeding may offer some immediate benefits in terms of improving certain traits that enable the animals to adapt well to local environmental conditions, it may be difficult to sustain these benefits in the longer term and could also induce an important loss of genetic diversity if the initial pure-bred populations are no longer produced. As well as supporting the value of within-breed diversity, we must preserve between-breed diversity in order to maintain numerous options for adaptation to a variety of production environments and contexts. This may involve specific public policies to maintain and characterize local breeds (in terms of both phenotypes and genotypes), which could be used more effectively if they benefited from the scientific and technical resources currently available for more common breeds. Last but not least, public policies need to enable improved information concerning the genetic resources and breeding tools available for the agroecological management of livestock production systems, and facilitate its assimilation by farmers and farm technicians.

Culture-specific programs for children and adults from minority groups who have asthma.

PubMed

Bailey, E J; Kruske, S G; Morris, P S; Cates, C J; Chang, A B

2008-04-16

People with asthma who come from minority groups have poorer asthma outcomes and more asthma related visits to Emergency Departments (ED). Various programmes are used to educate and empower people with asthma and these have previously been shown to improve certain asthma outcomes. Models of care for chronic diseases in minority groups usually include a focus of the cultural context of the individual and not just the symptoms of the disease. Therefore, questions about whether culturally specific asthma education programmes for people from minority groups are effective at improving asthma outcomes, are feasible and are cost-effective need to be answered. To determine whether culture-specific asthma programmes, in comparison to generic asthma education programmes or usual care, improve asthma related outcomes in children and adults with asthma who belong to minority groups. We searched the Cochrane Register of Controlled Trials (CENTRAL), the Cochrane Airways Group Specialised Register, MEDLINE, EMBASE, review articles and reference lists of relevant articles. The latest search was performed in March 2007. All randomised controlled trials (RCTs) comparing the use of culture-specific asthma education programmes with generic asthma education programmes, or usual care, in adults or children from minority groups who suffer from asthma. Two review authors independently selected, extracted and assessed the data for inclusion. We contacted authors for further information if required. Three studies were eligible for inclusion in the review. A total of 396 patients, aged from 7 to 59 years were included in the meta-analysis of data. Use of a culture-specific programme was superior to generic programmes or usual care, in improving asthma quality of life scores in adults, pooled WMD 0.25 (95% CI 0.09 to 0.41) and asthma knowledge scores in children, WMD 3.30 (95% CI 1.07 to 5.53). There was no significant difference between groups in occurrence of asthma exacerbations, but the width of the confidence interval means that effects on exacerbation rates cannot be ruled out, rate ratio 0.93 (95% CI 0.80 to 1.10). Culture-specific programmes for adults and children from minority groups with asthma, have been found to be more effective than generic programmes in improving some (Quality of Life and asthma knowledge) but not all asthma outcomes. This evidence is limited by the small number of included studies and the lack of reported outcomes. Further trials are required to answer this question conclusively.

Genetic analysis of a red tilapia (Oreochromis spp.) population undergoing three generations of selection for increased body weight at harvest.

PubMed

Hamzah, Azhar; Thoa, Ngo Phu; Nguyen, Nguyen Hong

2017-11-01

Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models were used to analyse body traits (weight, length, width and depth), whereas threshold generalised models assuming probit distribution were employed to examine genetic inheritance of survival rate, sexual maturity and body colour. The estimates of heritability for traits studied (body weight, standard length, body width, body depth, body colour, early sexual maturation and survival) across statistical models were moderate to high (0.13-0.45). Genetic correlations among body traits and survival were high and positive (0.68-0.96). Body length and width exhibited negative genetic correlations with body colour (- 0.47 to - 0.25). Sexual maturity was genetically correlated positively with measurements of body traits (weight and length). Direct and correlated genetic responses to selection were measured as estimated breeding values in each generation and expressed in genetic standard deviation units (σ G ). The cumulative improvement achieved for harvest body weight was 1.72 σ G after three generations or 12.5% per generation when the gain was expressed as a percentage of the base population. Selection for improved body weight also resulted in correlated increase in other body traits (length, width and depth) and survival rate (ranging from 0.25 to 0.81 genetic standard deviation units). Avoidance of black spot parent matings also improved the overall red colour of the selected population. It is concluded that the selective breeding programme for red tilapia has succeeded in achieving significant genetic improvement for a range of commercially important traits in this species, and the large genetic variation in body colour and survival also shows that there are prospects for future improvement of these traits in this population of red tilapia.

Evaluating the Success of a Science Academic Development Programme at a Research-Intensive University

ERIC Educational Resources Information Center

Engelbrecht, Johann; Harding, Ansie; Potgieter, Marietjie

2014-01-01

Academic development (AD) programmes for students not complying with the entrance requirements of mainstream programmes in science have been running at a number of universities in South Africa. In this study we contribute to the debate on criteria for the success of AD programmes, specifically in the context of research-intensive universities in…

Improving Latino Children's Early Language and Literacy Development: Key Features of Early Childhood Education within Family Literacy Programmes

ERIC Educational Resources Information Center

Jung, Youngok; Zuniga, Stephen; Howes, Carollee; Jeon, Hyun-Joo; Parrish, Deborah; Quick, Heather; Manship, Karen; Hauser, Alison

2016-01-01

Noting the lack of research on how early childhood education (ECE) programmes within family literacy programmes influence Latino children's early language and literacy development, this study examined key features of ECE programmes, specifically teacher-child interactions and child engagement in language and literacy activities and how these…

Evaluation of the genotype, environment and their interaction on carotenoid and ascorbic acid accumulation in tomato germplasm.

PubMed

Roselló, Salvador; Adalid, Ana Maria; Cebolla-Cornejo, Jaime; Nuez, Fernando

2011-04-01

Tomatoes are an important source of antioxidants (carotenoids, vitamin C, etc.) owing to their high level of consumption. There is great interest in developing cultivars with increased levels of lycopene, β-carotene or L-ascorbic acid. There is necessary to survey new sources of variation. In this study, the potential of improvement for each character in tomato breeding programmes, in a single or joint approach, and the nature of genotype (G), environment (E) and G × E interaction effects in the expression of these characters were investigated. The content of lycopene, β-carotene and ascorbic acid determined was very high in some phenotypes (up to 281, 35 and 346 mg kg(-1) respectively). The important differences in the three environments studied (with some stressing conditions in several situations) had a remarkable influence in the phenotypic expression of the functional characters evaluated. Nevertheless, the major contribution came from the genotypic effect along with a considerable G × E interaction. The joint accumulation of lycopene and β-carotene has a high genetic component. It is possible to select elite genotypes with high content of both carotenoids in tomato breeding programmes but multi-environment trials are recommended. The improvement of ascorbic acid content is more difficult because the interference of uncontrolled factors mask the real genetic potential. Among the accessions evaluated, there are four accessions with an amazing genetic potential for functional properties that can be used as donor parents in tomato breeding programmes or for direct consumption in quality markets. Copyright © 2011 Society of Chemical Industry.

Culture-specific programs for children and adults from minority groups who have asthma.

PubMed

McCallum, Gabrielle B; Morris, Peter S; Brown, Ngiare; Chang, Anne B

2017-08-22

People with asthma who come from minority groups often have poorer asthma outcomes, including more acute asthma-related doctor visits for flare-ups. Various programmes used to educate and empower people with asthma have previously been shown to improve certain asthma outcomes (e.g. adherence outcomes, asthma knowledge scores in children and parents, and cost-effectiveness). Models of care for chronic diseases in minority groups usually include a focus of the cultural context of the individual, and not just the symptoms of the disease. Therefore, questions about whether tailoring asthma education programmes that are culturally specific for people from minority groups are effective at improving asthma-related outcomes, that are feasible and cost-effective need to be answered. To determine whether culture-specific asthma education programmes, in comparison to generic asthma education programmes or usual care, improve asthma-related outcomes in children and adults with asthma who belong to minority groups. We searched the Cochrane Register of Controlled Trials (CENTRAL), the Cochrane Airways Group Specialised Register, MEDLINE, Embase, review articles and reference lists of relevant articles. The latest search fully incorporated into the review was performed in June 2016. Randomised controlled trials (RCTs) comparing the use of culture-specific asthma education programmes with generic asthma education programmes, or usual care, in adults or children from minority groups with asthma. Two review authors independently selected, extracted and assessed the data for inclusion. We contacted study authors for further information if required. In this review update, an additional three studies and 220 participants were added. A total of seven RCTs (two in adults, four in children, one in both children and adults) with 837 participants (aged from one to 63 years) with asthma from ethnic minority groups were eligible for inclusion in this review. The methodological quality of studies ranged from very low to low. For our primary outcome (asthma exacerbations during follow-up), the quality of evidence was low for all outcomes. In adults, use of a culture-specific programme, compared to generic programmes or usual care did not significantly reduce the number of participants from two studies with 294 participants for: exacerbations with one or more exacerbations during follow-up (odds ratio (OR) 0.80, 95% confidence interval (CI) 0.50 to 1.26), hospitalisations over 12 months (OR 0.83, 95% CI 0.31 to 2.22) and exacerbations requiring oral corticosteroids (OR 0.97, 95% CI 0.55 to 1.73). However, use of a culture-specific programme, improved asthma quality of life scores in 280 adults from two studies (mean difference (MD) 0.26, 95% CI 0.17 to 0.36) (although the MD was less then the minimal important difference for the score). In children, use of a culture-specific programme was superior to generic programmes or usual care in reducing severe asthma exacerbations requiring hospitalisation in two studies with 305 children (rate ratio 0.48, 95% CI 0.24 to 0.95), asthma control in one study with 62 children and QoL in three studies with 213 children, but not for the number of exacerbations during follow-up (OR 1.55, 95% CI 0.66 to 3.66) or the number of exacerbations (MD 0.18, 95% CI -0.25 to 0.62) among 100 children from two studies. The available evidence showed that culture-specific education programmes for adults and children from minority groups are likely effective in improving asthma-related outcomes. This review was limited by few studies and evidence of very low to low quality. Not all asthma-related outcomes improved with culture-specific programs for both adults and children. Nevertheless, while modified culture-specific education programs are usually more time intensive, the findings of this review suggest using culture-specific asthma education programmes for children and adults from minority groups. However, more robust RCTs are needed to further strengthen the quality of evidence and determine the cost-effectiveness of culture-specific programs.

CRISPR/Cas9 Platforms for Genome Editing in Plants: Developments and Applications.

PubMed

Ma, Xingliang; Zhu, Qinlong; Chen, Yuanling; Liu, Yao-Guang

2016-07-06

The clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein9 (Cas9) genome editing system (CRISPR/Cas9) is adapted from the prokaryotic type II adaptive immunity system. The CRISPR/Cas9 tool surpasses other programmable nucleases, such as ZFNs and TALENs, for its simplicity and high efficiency. Various plant-specific CRISPR/Cas9 vector systems have been established for adaption of this technology to many plant species. In this review, we present an overview of current advances on applications of this technology in plants, emphasizing general considerations for establishment of CRISPR/Cas9 vector platforms, strategies for multiplex editing, methods for analyzing the induced mutations, factors affecting editing efficiency and specificity, and features of the induced mutations and applications of the CRISPR/Cas9 system in plants. In addition, we provide a perspective on the challenges of CRISPR/Cas9 technology and its significance for basic plant research and crop genetic improvement. Copyright © 2016 The Author. Published by Elsevier Inc. All rights reserved.

Extending the durability of cultivar resistance by limiting epidemic growth rates.

PubMed

Carolan, Kevin; Helps, Joe; van den Berg, Femke; Bain, Ruairidh; Paveley, Neil; van den Bosch, Frank

2017-09-27

Cultivar resistance is an essential part of disease control programmes in many agricultural systems. The use of resistant cultivars applies a selection pressure on pathogen populations for the evolution of virulence, resulting in loss of disease control. Various techniques for the deployment of host resistance genes have been proposed to reduce the selection for virulence, but these are often difficult to apply in practice. We present a general technique to maintain the effectiveness of cultivar resistance. Derived from classical population genetics theory; any factor that reduces the population growth rates of both the virulent and avirulent strains will reduce selection. We model the specific example of fungicide application to reduce the growth rates of virulent and avirulent strains of a pathogen, demonstrating that appropriate use of fungicides reduces selection for virulence, prolonging cultivar resistance. This specific example of chemical control illustrates a general principle for the development of techniques to manage the evolution of virulence by slowing epidemic growth rates. © 2017 The Author(s).

The role of professionals in the South African chemical and biological warfare programme.

PubMed

Gould, Chandré; Folb, Peter

2002-01-01

This paper provides a short account of the South African Defence Force's chemical and biological warfare programme during apartheid, specifically during the period 1980 to 1994. It examines the circumstances of recruitment of the scientists and physicians and their retention in the programme; details the 'scientific efforts' of the programme and its aberrations; and explores ethical issues in relation to the involvement of scientists in the programme.

Genetic Diversity and Demographic History of Wild and Cultivated/Naturalised Plant Populations: Evidence from Dalmatian Sage (Salvia officinalis L., Lamiaceae).

PubMed

Rešetnik, Ivana; Baričevič, Dea; Batîr Rusu, Diana; Carović-Stanko, Klaudija; Chatzopoulou, Paschalina; Dajić-Stevanović, Zora; Gonceariuc, Maria; Grdiša, Martina; Greguraš, Danijela; Ibraliu, Alban; Jug-Dujaković, Marija; Krasniqi, Elez; Liber, Zlatko; Murtić, Senad; Pećanac, Dragana; Radosavljević, Ivan; Stefkov, Gjoshe; Stešević, Danijela; Šoštarić, Ivan; Šatović, Zlatko

2016-01-01

Dalmatian sage (Salvia officinalis L., Lamiaceae) is a well-known aromatic and medicinal Mediterranean plant that is native in coastal regions of the western Balkan and southern Apennine Peninsulas and is commonly cultivated worldwide. It is widely used in the food, pharmaceutical and cosmetic industries. Knowledge of its genetic diversity and spatiotemporal patterns is important for plant breeding programmes and conservation. We used eight microsatellite markers to investigate evolutionary history of indigenous populations as well as genetic diversity and structure within and among indigenous and cultivated/naturalised populations distributed across the Balkan Peninsula. The results showed a clear separation between the indigenous and cultivated/naturalised groups, with the cultivated material originating from one restricted geographical area. Most of the genetic diversity in both groups was attributable to differences among individuals within populations, although spatial genetic analysis of indigenous populations indicated the existence of isolation by distance. Geographical structuring of indigenous populations was found using clustering analysis, with three sub-clusters of indigenous populations. The highest level of gene diversity and the greatest number of private alleles were found in the central part of the eastern Adriatic coast, while decreases in gene diversity and number of private alleles were evident towards the northwestern Adriatic coast and southern and eastern regions of the Balkan Peninsula. The results of Ecological Niche Modelling during Last Glacial Maximum and Approximate Bayesian Computation suggested two plausible evolutionary trajectories: 1) the species survived in the glacial refugium in southern Adriatic coastal region with subsequent colonization events towards northern, eastern and southern Balkan Peninsula; 2) species survived in several refugia exhibiting concurrent divergence into three genetic groups. The insight into genetic diversity and structure also provide the baseline data for conservation of S. officinalis genetic resources valuable for future breeding programmes.

Genetic Diversity and Demographic History of Wild and Cultivated/Naturalised Plant Populations: Evidence from Dalmatian Sage (Salvia officinalis L., Lamiaceae)

PubMed Central

Rešetnik, Ivana; Baričevič, Dea; Batîr Rusu, Diana; Carović-Stanko, Klaudija; Chatzopoulou, Paschalina; Dajić-Stevanović, Zora; Gonceariuc, Maria; Grdiša, Martina; Greguraš, Danijela; Ibraliu, Alban; Jug-Dujaković, Marija; Krasniqi, Elez; Liber, Zlatko; Murtić, Senad; Pećanac, Dragana; Radosavljević, Ivan; Stefkov, Gjoshe; Stešević, Danijela; Šoštarić, Ivan; Šatović, Zlatko

2016-01-01

Dalmatian sage (Salvia officinalis L., Lamiaceae) is a well-known aromatic and medicinal Mediterranean plant that is native in coastal regions of the western Balkan and southern Apennine Peninsulas and is commonly cultivated worldwide. It is widely used in the food, pharmaceutical and cosmetic industries. Knowledge of its genetic diversity and spatiotemporal patterns is important for plant breeding programmes and conservation. We used eight microsatellite markers to investigate evolutionary history of indigenous populations as well as genetic diversity and structure within and among indigenous and cultivated/naturalised populations distributed across the Balkan Peninsula. The results showed a clear separation between the indigenous and cultivated/naturalised groups, with the cultivated material originating from one restricted geographical area. Most of the genetic diversity in both groups was attributable to differences among individuals within populations, although spatial genetic analysis of indigenous populations indicated the existence of isolation by distance. Geographical structuring of indigenous populations was found using clustering analysis, with three sub-clusters of indigenous populations. The highest level of gene diversity and the greatest number of private alleles were found in the central part of the eastern Adriatic coast, while decreases in gene diversity and number of private alleles were evident towards the northwestern Adriatic coast and southern and eastern regions of the Balkan Peninsula. The results of Ecological Niche Modelling during Last Glacial Maximum and Approximate Bayesian Computation suggested two plausible evolutionary trajectories: 1) the species survived in the glacial refugium in southern Adriatic coastal region with subsequent colonization events towards northern, eastern and southern Balkan Peninsula; 2) species survived in several refugia exhibiting concurrent divergence into three genetic groups. The insight into genetic diversity and structure also provide the baseline data for conservation of S. officinalis genetic resources valuable for future breeding programmes. PMID:27441834

Exploration of the Hypothalamic-Pituitary-Adrenal Axis to Improve Animal Welfare by Means of Genetic Selection: Lessons from the South African Merino

PubMed Central

Hough, Denise; Swart, Pieter; Cloete, Schalk

2013-01-01

Simple Summary Breeding sheep that are robust and easily managed may be beneficial for both animal welfare and production. Sheep that are more readily able to adapt to stressful situations and a wide variety of environmental conditions are likely to have more resources available for a higher expression of their production potential. This review explores the utilization of one of the stress response pathways, namely the hypothalamic-pituitary-adrenal axis, to locate potential sites where genetic markers might be identified that contribute to sheep robustness. A South African Merino breeding programme is used to demonstrate the potential benefits of this approach. Abstract It is a difficult task to improve animal production by means of genetic selection, if the environment does not allow full expression of the animal’s genetic potential. This concept may well be the future for animal welfare, because it highlights the need to incorporate traits related to production and robustness, simultaneously, to reach sustainable breeding goals. This review explores the identification of potential genetic markers for robustness within the hypothalamic-pituitary-adrenal axis (HPAA), since this axis plays a vital role in the stress response. If genetic selection for superior HPAA responses to stress is possible, then it ought to be possible to breed robust and easily managed genotypes that might be able to adapt to a wide range of environmental conditions whilst expressing a high production potential. This approach is explored in this review by means of lessons learnt from research on Merino sheep, which were divergently selected for their multiple rearing ability. These two selection lines have shown marked differences in reproduction, production and welfare, which makes this breeding programme ideal to investigate potential genetic markers of robustness. The HPAA function is explored in detail to elucidate where such genetic markers are likely to be found. PMID:26487412

Reflect before you act: providing structure to the evaluation of rehabilitation programmes.

PubMed

Velema, Johan P; Cornielje, Huib

2003-11-18

This paper is concerned with understanding and evaluating potentially diverse rehabilitation programmes. It helps evaluators and programme managers to focus attention on specific aspects of the rehabilitation process and select evaluation questions relevant to each. Distinction is made between the rehabilitation programme itself, the programme environment and the relationships between the two. For each of these areas, evaluation questions have been formulated. For services offered to individual clients, questions address whether the status of clients has improved, what interventions are offered and who benefit from them, the relationships between the service providers and the clients, and who may be involved in the rehabilitation process besides the client. To assess the programme environment, questions address the epidemiology of disability, the resources available to persons with disabilities, the inclusiveness of education and employment and a number of eco-social variables. Relationships between the programme and its environment concern the support of the community for the programme, the way the programme seeks to influence the community, the referral of clients to other services available in the community and the extent to which the programme is a learning organization. Lists of evaluation questions are presented from which the evaluator can select those most relevant to the programme to be evaluated. This provides a framework for the evaluation and for the information to be gathered. Rather than providing a blue print, this framework permits flexibility to adapt to the specific situation of the programme to be evaluated. This paper presents a useful guideline that stimulates the thinking of those preparing for the evaluation of rehabilitation programmes.

Ninety-day oral toxicity studies on two genetically modified maize MON810 varieties in Wistar Han RCC rats (EU 7th Framework Programme project GRACE).

PubMed

Zeljenková, Dagmar; Ambrušová, Katarína; Bartušová, Mária; Kebis, Anton; Kovrižnych, Jevgenij; Krivošíková, Zora; Kuricová, Miroslava; Líšková, Aurélia; Rollerová, Eva; Spustová, Viera; Szabová, Elena; Tulinská, Jana; Wimmerová, Soňa; Levkut, Mikuláš; Révajová, Viera; Ševčíková, Zuzana; Schmidt, Kerstin; Schmidtke, Jörg; La Paz, Jose Luis; Corujo, Maria; Pla, Maria; Kleter, Gijs A; Kok, Esther J; Sharbati, Jutta; Hanisch, Carlos; Einspanier, Ralf; Adel-Patient, Karine; Wal, Jean-Michel; Spök, Armin; Pöting, Annette; Kohl, Christian; Wilhelm, Ralf; Schiemann, Joachim; Steinberg, Pablo

2014-12-01

The GMO Risk Assessment and Communication of Evidence (GRACE; www.grace-fp7.eu ) project is funded by the European Commission within the 7th Framework Programme. A key objective of GRACE is to conduct 90-day animal feeding trials, animal studies with an extended time frame as well as analytical, in vitro and in silico studies on genetically modified (GM) maize in order to comparatively evaluate their use in GM plant risk assessment. In the present study, the results of two 90-day feeding trials with two different GM maize MON810 varieties, their near-isogenic non-GM varieties and four additional conventional maize varieties are presented. The feeding trials were performed by taking into account the guidance for such studies published by the EFSA Scientific Committee in 2011 and the OECD Test Guideline 408. The results obtained show that the MON810 maize at a level of up to 33 % in the diet did not induce adverse effects in male and female Wistar Han RCC rats after subchronic exposure, independently of the two different genetic backgrounds of the event.

Integrating the landscape epidemiology and genetics of RNA viruses: rabies in domestic dogs as a model.

PubMed

Brunker, K; Hampson, K; Horton, D L; Biek, R

2012-12-01

Landscape epidemiology and landscape genetics combine advances in molecular techniques, spatial analyses and epidemiological models to generate a more real-world understanding of infectious disease dynamics and provide powerful new tools for the study of RNA viruses. Using dog rabies as a model we have identified how key questions regarding viral spread and persistence can be addressed using a combination of these techniques. In contrast to wildlife rabies, investigations into the landscape epidemiology of domestic dog rabies requires more detailed assessment of the role of humans in disease spread, including the incorporation of anthropogenic landscape features, human movements and socio-cultural factors into spatial models. In particular, identifying and quantifying the influence of anthropogenic features on pathogen spread and measuring the permeability of dispersal barriers are important considerations for planning control strategies, and may differ according to cultural, social and geographical variation across countries or continents. Challenges for dog rabies research include the development of metapopulation models and transmission networks using genetic information to uncover potential source/sink dynamics and identify the main routes of viral dissemination. Information generated from a landscape genetics approach will facilitate spatially strategic control programmes that accommodate for heterogeneities in the landscape and therefore utilise resources in the most cost-effective way. This can include the efficient placement of vaccine barriers, surveillance points and adaptive management for large-scale control programmes.

Technology-Enhanced Physics Programme for Community-Based Science Learning: Innovative Design and Programme Evaluation in a Theme Park

ERIC Educational Resources Information Center

Tho, Siew Wei; Chan, Ka Wing; Yeung, Yau Yuen

2015-01-01

In this study, a new physics education programme is specifically developed for a famous theme park in Hong Kong to provide community-based science learning to her visitors, involving her three newly constructed rides. We make innovative use of digital technologies in this programme and incorporate a rigorous evaluation of the learning…

Monitoring for the management of disease risk in animal translocation programmes

USGS Publications Warehouse

Nichols, James D.; Hollmen, Tuula E.; Grand, James B.

2017-01-01

Monitoring is best viewed as a component of some larger programme focused on science or conservation. The value of monitoring is determined by the extent to which it informs the parent process. Animal translocation programmes are typically designed to augment or establish viable animal populations without changing the local community in any detrimental way. Such programmes seek to minimize disease risk to local wild animals, to translocated animals, and in some cases to humans. Disease monitoring can inform translocation decisions by (1) providing information for state-dependent decisions, (2) assessing progress towards programme objectives, and (3) permitting learning in order to make better decisions in the future. Here we discuss specific decisions that can be informed by both pre-release and post-release disease monitoring programmes. We specify state variables and vital rates needed to inform these decisions. We then discuss monitoring data and analytic methods that can be used to estimate these state variables and vital rates. Our discussion is necessarily general, but hopefully provides a basis for tailoring disease monitoring approaches to specific translocation programmes.

A Comprehensive TALEN-Based Knockout Library for Generating Human Induced Pluripotent Stem Cell-Based Models for Cardiovascular Diseases

PubMed Central

Karakikes, Ioannis; Termglinchan, Vittavat; Cepeda, Diana A.; Lee, Jaecheol; Diecke, Sebastian; Hendel, Ayal; Itzhaki, Ilanit; Ameen, Mohamed; Shrestha, Rajani; Wu, Haodi; Ma, Ning; Shao, Ning-Yi; Seeger, Timon; Woo, Nicole; Wilson, Kitchener D.; Matsa, Elena; Porteus, Matthew H.; Sebastiano, Vittorio; Wu, Joseph C.

2017-01-01

Rationale Targeted genetic engineering using programmable nucleases such as transcription activator–like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome. Objective The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro. Methods and Results By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout (KO) eighty-eight human genes that are associated with cardiomyopathies and congenital heart diseases. The TALEN pairs were designed to induce double-strand DNA break near the starting codon of each gene that either disrupted the start codon or introduced a frameshift mutation in the early coding region, ensuring faithful gene KO. We observed that all the constructs were active and disrupted the target locus at high frequencies. To illustrate the general utility of the TALEN-mediated KO technique, six individual genes (TNNT2, LMNA/C, TBX5, MYH7, ANKRD1, and NKX2.5) were knocked out with high efficiency and specificity in human iPSCs. By selectively targeting a dilated cardiomyopathy (DCM)-causing mutation (TNNT2 p.R173W) in patient-specific iPSC-derived cardiac myocytes (iPSC-CMs), we demonstrated that the KO strategy ameliorates the DCM phenotype in vitro. In addition, we modeled the Holt-Oram syndrome (HOS) in iPSC-CMs in vitro and uncovered novel pathways regulated by TBX5 in human cardiac myocyte development. Conclusion Collectively, our study illustrates the powerful combination of iPSCs and genome editing technology for understanding the biological function of genes and the pathological significance of genetic variants in human cardiovascular diseases. The methods, strategies, constructs and iPSC lines developed in this study provide a validated, readily available resource for cardiovascular research. PMID:28246128

Flexibility in the structure of spiral flowers and its underlying mechanisms.

PubMed

Wang, Peipei; Liao, Hong; Zhang, Wengen; Yu, Xianxian; Zhang, Rui; Shan, Hongyan; Duan, Xiaoshan; Yao, Xu; Kong, Hongzhi

2015-12-07

Spiral flowers usually bear a variable number of organs, suggestive of the flexibility in structure. The mechanisms underlying the flexibility, however, remain unclear. Here we show that in Nigella damascena, a species with spiral flowers, different types of floral organs show different ranges of variation in number. We also show that the total number of organs per flower is largely dependent on the initial size of the floral meristem, whereas the respective numbers of different types of floral organs are determined by the functional domains of corresponding genetic programmes. By conducting extensive expression and functional studies, we further elucidate the genetic programmes that specify the identities of different types of floral organs. Notably, the AGL6-lineage member NdAGL6, rather than the AP1-lineage members NdFL1/2, is an A-function gene, whereas petaloidy of sepals is not controlled by AP3- or PI-lineage members. Moreover, owing to the formation of a regulatory network, some floral organ identity genes also regulate the boundaries between different types of floral organs. On the basis of these results, we propose that the floral organ identity determination programme is highly dynamic and shows considerable flexibility. Transitions from spiral to whorled flowers, therefore, may be explained by evolution of the mechanisms that reduce the flexibility.

Influence of supplementary lighting during artificial scab inoculation tests in an apple breeding programm focused on partial resistance.

PubMed

Lefrancq, B; Lateur, M

2006-01-01

In 1988, the Department of Biological Control and Plant Genetic Resources at the Walloon Agricultural Research Centre started an apple-breeding programme using local genetic resources and modern varieties. Our objective is to create high quality commercial cultivars with durable resistance to scab (Venturia inaequalis), powdery mildew (Podosphaera leucotricha) and canker (Nectria galligena). The breeding strategy is based on crossing old apple cultivars and landraces selected as parents for low disease susceptibility and possessing other desirable horticultural characteristics. The programme aims to develop an early and efficient selection methodology adapted to partial disease resistance. One of the objectives is to define the optimal screening limit for discarding individuals after artificial scab inoculation tests. Working with large populations of seedlings entails spacing the seedling scab tests throughout the year. In order to work during winter, seedlings were grown in controlled cabinet conditions and in a glasshouse with supplementary lighting. To assess the bias introduced by these conditions, two trials were conducted: the first one to compare the influence of both environments on the results of scab inoculation tests, and the second one to assess the influence of the duration of supplementary lighting. The results enabled us to evaluate the limits of artificial cultural systems.

Practical applications of insects' sexual development for pest control.

PubMed

Koukidou, M; Alphey, L

2014-01-01

Elucidation of the sex differentiation pathway in insects offers an opportunity to understand key aspects of evolutionary developmental biology. In addition, it provides the understanding necessary to manipulate insects in order to develop new synthetic genetics-based tools for the control of pest insects. Considerable progress has been made in this, especially in improvements to the sterile insect technique (SIT). Large scale sex separation is considered highly desirable or essential for most SIT targets. This separation can be provided by genetic methods based on sex-specific gene expression. Investigation of sex determination by many groups has provided molecular components and methods for this. Though the primary sex determination signal varies considerably, key regulatory genes and mechanisms remain surprisingly similar. In most cases studied so far, a primary signal is transmitted to a basal gene at the bottom of the hierarchy (dsx) through an alternative splicing cascade; dsx is itself differentially spliced in males and females. A sex-specific alternative splicing system therefore offers an attractive route to achieve female-specific expression. Experience has shown that alternative splicing modules can be developed with cross-species function; modularity and standardisation and re-use of parts are key principles of synthetic biology. Both female-killing and sex reversal (XX females to phenotypic males) can in principle also be used as efficient alternatives to sterilisation in SIT-like methods. Sexual maturity is yet another area where understanding of sexual development may be applied to insect control programmes. Further detailed understanding of this crucial aspect of insect biology will undoubtedly continue to underpin innovative practical applications. © 2014 S. Karger AG, Basel.

An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases.

PubMed

Huang, Shu-Hong; Chang, Yu-Shin; Juang, Jyh-Ming Jimmy; Chang, Kai-Wei; Tsai, Mong-Hsun; Lu, Tzu-Pin; Lai, Liang-Chuan; Chuang, Eric Y; Huang, Nien-Tsu

2018-03-12

In this study, we developed an automated microfluidic DNA microarray (AMDM) platform for point mutation detection of genetic variants in inherited arrhythmic diseases. The platform allows for automated and programmable reagent sequencing under precise conditions of hybridization flow and temperature control. It is composed of a commercial microfluidic control system, a microfluidic microarray device, and a temperature control unit. The automated and rapid hybridization process can be performed in the AMDM platform using Cy3 labeled oligonucleotide exons of SCN5A genetic DNA, which produces proteins associated with sodium channels abundant in the heart (cardiac) muscle cells. We then introduce a graphene oxide (GO)-assisted DNA microarray hybridization protocol to enable point mutation detection. In this protocol, a GO solution is added after the staining step to quench dyes bound to single-stranded DNA or non-perfectly matched DNA, which can improve point mutation specificity. As proof-of-concept we extracted the wild-type and mutant of exon 12 and exon 17 of SCN5A genetic DNA from patients with long QT syndrome or Brugada syndrome by touchdown PCR and performed a successful point mutation discrimination in the AMDM platform. Overall, the AMDM platform can greatly reduce laborious and time-consuming hybridization steps and prevent potential contamination. Furthermore, by introducing the reciprocating flow into the microchannel during the hybridization process, the total assay time can be reduced to 3 hours, which is 6 times faster than the conventional DNA microarray. Given the automatic assay operation, shorter assay time, and high point mutation discrimination, we believe that the AMDM platform has potential for low-cost, rapid and sensitive genetic testing in a simple and user-friendly manner, which may benefit gene screening in medical practice.

Controlled ecological evaluation of an implemented exercise training programme to prevent lower limb injuries in sport: differences in implementation activity.

PubMed

Donaldson, Alex; Gabbe, Belinda J; Lloyd, David G; Cook, Jill; Finch, Caroline F

2018-04-24

The public health benefits of injury prevention programmes are maximised when programmes are widely adopted and adhered to. Therefore, these programmes require appropriate implementation support. This study evaluated implementation activity outcomes associated with the implementation of FootyFirst, an exercise training injury prevention programme for community Australian football, both with (FootyFirst+S) and without (FootyFirst+NS) implementation support. An evaluation plan based on the Reach Effectiveness Adoption Implementation Maintenance (RE-AIM) Sports Setting Matrix was applied in a controlled ecological evaluation of the implementation of FootyFirst. RE-AIM dimension-specific (range: 0-2) and total RE-AIM scores (range: 0-10) were derived by triangulating data from a number of sources (including surveys, interviews, direct observations and notes) describing FootyFirst implementation activities. The mean dimension-specific and total scores were compared for clubs in regions receiving FootyFirst+S and FootyFirst+NS, through analysis of variance. The mean total RE-AIM score forclubs in the FootyFirst+S regions was 2.4 times higher than for clubs in the FootyFirst+NS region (4.73 vs 1.94; 95% CI for the difference: 1.64 to 3.74). Similarly, all dimension-specific scores were significantly higher for clubs in the FootyFirst+S regions compared with clubs in the FootyFirst+NS region. In all regions, the dimension-specific scores were highest for reach and adoption, and lowest for implementation. Implementing exercise training injury prevention programmes in community sport is challenging. Delivering programme content supported by a context-specific and evidence-informed implementation plan leads to greater implementation activity, which is an important precursor to injury reductions. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Nursing philosophy: A review of current pre registration curricula in the UK.

PubMed

Mackintosh-Franklin, Carolyn

2016-02-01

Nursing in the UK has been subject to criticism for failing to provide care and compassion in practice, with a series of reports highlighting inadequacies in care. This scrutiny provides nursing with an ideal opportunity to evaluate the underpinning philosophy of nursing practice, and for nurse educators to use this philosophy as the basis for programmes which can inculcate neophyte student nurses with a fundamental understanding of the profession, whilst providing other health care professionals and service users with a clear representation of professional nursing practice. The key word philosophy was used in a systematic stepwise descriptive content analysis of the programme specifications of 33 current undergraduate programme documents, leading to an undergraduate award and professional registration as a nurse. The word philosophy featured minimally in programme specification documents, with 12 (36%) documents including it. Its use was superficial in 3 documents and focused on educational philosophy in a further 3 documents. 2 programme specifications identified their philosophy as the NMC (2010) standards for pre-registration nurse education. 2 programme specifications articulated a philosophy specific to that programme and HEI, focusing on caring, and 2 made reference to underpinning philosophies present in nursing literature; the Relationship Centred Care Approach, and The Humanising Care Philosophy. The philosophy of nursing practice is not clearly articulated in pre-registration curricula. This failure to identify the fundamental nature of nursing is detrimental to the development of the profession, and given this lack of direction it is not surprising that some commentators feel nursing has lost its way. Nurse educators must review their current curricula to ensure that there is clear articulation of nursing's professional philosophical stance, and use this as the framework for pre-registration curricula to support the development of neophyte nursing students towards a clear and focused understanding of what nursing practice is. Copyright © 2015 Elsevier Ltd. All rights reserved.

Diagnosis, Treatment and Management of Haemonchus contortus in Small Ruminants.

PubMed

Besier, R B; Kahn, L P; Sargison, N D; Van Wyk, J A

2016-01-01

Haemonchus contortus is a highly pathogenic, blood-feeding nematode of small ruminants, and a significant cause of mortalities worldwide. Haemonchosis is a particularly significant threat in tropical, subtropical and warm temperate regions, where warm and moist conditions favour the free-living stages, but periodic outbreaks occur more widely during periods of transient environmental favourability. The clinical diagnosis of haemonchosis is based mostly on the detection of anaemia in association with a characteristic epidemiological picture, and confirmed at postmortem by the finding of large numbers of H. contortus in the abomasum. The detection of impending haemonchosis relies chiefly on periodic monitoring for anaemia, including through the 'FAMACHA' conjunctival-colour index, or through faecal worm egg counts and other laboratory procedures. A range of anthelmintics for use against H. contortus is available, but in most endemic situations anthelmintic resistance significantly limits the available treatment options. Effective preventative programmes vary depending on environments and enterprise types, and according to the scale of the haemonchosis risk and the local epidemiology of infections, but should aim to prevent disease outbreaks while maintaining anthelmintic efficacy. Appropriate strategies include animal management programmes to avoid excessive H. contortus challenge, genetic and nutritional approaches to enhance resistance and resilience to infection, and the monitoring of H. contortus infection on an individual animal or flock basis. Specific strategies to manage anthelmintic resistance centre on the appropriate use of effective anthelmintics, and refugia-based treatment schedules. Alternative approaches, such as biological control, may also prove useful, and vaccination against H. contortus appears to have significant potential in control programmes. Copyright © 2016 Elsevier Ltd. All rights reserved.

Monitoring the efficacy of drugs for neglected tropical diseases controlled by preventive chemotherapy

PubMed Central

Albonico, M.; Levecke, B.; LoVerde, P.T.; Montresor, A.; Prichard, R.; Vercruysse, J.; Webster, J.P.

2017-01-01

In the last decade, pharmaceutical companies, governments and global health organisations under the leadership of the World Health Organization (WHO) have pledged large-scale donations of anthelmintic drugs, including ivermectin (IVM), praziquantel (PZQ), albendazole (ALB) and mebendazole (MEB). This worldwide scale-up in drug donations calls for strong monitoring systems to detect any changes in anthelmintic drug efficacy. This review reports on the outcome of the WHO Global Working Group on Monitoring of Neglected Tropical Diseases Drug Efficacy, which consists of three subgroups: (i) soil-transmitted helminthiases (ALB and MEB); (ii) onchocerciasis and lymphatic filariasis (IVM); and (iii) schistosomiasis (PZQ). Progress of ongoing work, challenges and research needs for each of the four main drugs used in helminthic preventive chemotherapy (PC) are reported, laying the ground for appropriate implementation of drug efficacy monitoring programmes under the co-ordination and guidelines of the WHO. Best practices for monitoring drug efficacy should be made available and capacity built as an integral part of neglected tropical disease (NTD) programme monitoring. Development of a disease-specific model to predict the impact of PC programmes, to detect outliers and to solicit responses is essential. Research studies on genetic polymorphisms in relation to low-efficacy phenotypes should be carried out to identify markers of putative resistance against all NTD drugs and ultimately to develop diagnostic assays. Development of combination and co-administration of NTD drugs as well as of new drug entities to boost the armamentarium of the few drugs available for NTD control and elimination should be pursued in parallel. PMID:27842865

The Female Predominance of a Vocational and Scientific Education Programme for High School Students in Rio de Janeiro and Recife, Brazil

ERIC Educational Resources Information Center

de Sousa, Isabela Cabral Felix; Braga, Cristiane Nogueira; Frutuoso, Telma de Mello; Ferreira, Cristina Araripe; Vargas, Diego da Silva

2008-01-01

The aim of this research is to understand how students view their volunteer choices to take part in a specific scientific education programme while they attend high school. This programme is called (Provoc) located at Oswaldo Cruz Foundation (Fiocruz), Brazil. Historically, this programme has been characterised by a significant predominance of…

What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer?

PubMed

Hall, Alison Elizabeth; Chowdhury, Susmita; Pashayan, Nora; Hallowell, Nina; Pharoah, Paul; Burton, Hilary

2014-03-01

Increased knowledge of the gene-disease associations contributing to common cancer development raises the prospect of population stratification by genotype and other risk factors. Individual risk assessments could be used to target interventions such as screening, treatment and health education. Genotyping neonates, infants or young children as part of a systematic programme would improve coverage and uptake, and facilitate a screening package that maximises potential benefits and minimises harms including overdiagnosis. This paper explores the potential justifications and risks of genotyping children for genetic variants associated with common cancer development within a personalised screening programme. It identifies the ethical and legal principles that might guide population genotyping where the predictive value of the testing is modest and associated risks might arise in the future, and considers the standards required by population screening programme validity measures (such as the Wilson and Jungner criteria including cost-effectiveness and equitable access). These are distinguished from the normative principles underpinning predictive genetic testing of children for adult-onset diseases-namely, to make best-interests judgements and to preserve autonomy. While the case for population-based genotyping of neonates or young children has not yet been made, the justifications for this approach are likely to become increasingly compelling. A modified evaluative and normative framework should be developed, capturing elements from individualistic and population-based approaches. This should emphasise proper communication and genuine parental consent or informed choice, while recognising the challenges associated with making unsolicited approaches to an asymptomatic group. Such a framework would be strengthened by complementary empirical research.

Selective Hepatitis B Virus Vaccination Has Reduced Hepatitis B Virus Transmission in The Netherlands

PubMed Central

Koedijk, Femke; van Ballegooijen, Marijn; Cremer, Jeroen; Bruisten, Sylvia; Coutinho, Roel

2013-01-01

Background & Aims In the Netherlands, a selective hepatitis B virus (HBV) vaccination programme started in 2002 for men having sex with men, drug users, commercial sex workers and heterosexuals with frequent partner changes. We assessed the programme's effectiveness to guide policy on HBV prevention. Methods We analysed reports of acute HBV infection in the Netherlands between 2004 and 2010 requesting serum from patients for HBV-genome S- and C-region sequencing. We used coalescence analyses to assess genetic diversity of nonimported genotype-A cases over time. Results 1687 patients with acute HBV infection were reported between 2004 and 2010. The incidence of reported acute HBV infection decreased from 1.8 to 1.2 per 100,000 inhabitants, mostly due to a reduction in the number of cases in men who have sex with men. Men were overrepresented among cases with an unknown route of transmission, especially among genotype A2 cases mainly associated with transmission through male homosexual contact. The genetic diversity of nonimported genotype-A strains obtained from men who have sex with men decreased from 2006 onwards, suggesting HBV incidence in this group decreased. Conclusions The selective HBV-vaccination programme for behavioural high-risk groups very likely reduced the incidence of HBV infection in the Netherlands mainly by preventing HBV infections in men who have sex with men. A considerable proportion of cases in men who did not report risk behaviour was probably acquired through homosexual contact. Our findings support continuation of the programme, and adopting similar approaches in other countries where HBV transmission is focused in high-risk adults. PMID:23922651

Randomised controlled trial of alternative messages to increase enrolment in a healthy food programme among individuals with diabetes

PubMed Central

Gopalan, A; Paramanund, J; Shaw, P A; Patel, D; Friedman, J; Brophy, C; Buttenheim, A M; Troxel, A B; Asch, D A; Volpp, K G

2016-01-01

Objectives We compared the effectiveness of diabetes-focused messaging strategies at increasing enrolment in a healthy food programme among adults with diabetes. Methods Vitality is a multifaceted wellness benefit available to members of Discovery Health, a South Africa-based health insurer. One of the largest Vitality programmes is HealthyFood (HF), an incentive-based programme designed to encourage healthier diets by providing up to 25% cashback on healthy food purchases. We randomised adults with type 2 diabetes to 1 of 5 arms: (1) control, (2) a diabetes-specific message, (3) a message with a recommendation of HF written from the perspective of a HF member with diabetes, (4) a message containing a physician's recommendation of HF, or (5) the diabetes-specific message from arm 2 paired with an ‘enhanced active choice’(EAC). In an EAC, readers are asked to make an immediate choice (in this case, to enrol or not enrol); the pros and cons associated with the preferred and non-preferred options are highlighted. HF enrolment was assessed 1 month following the first emailed message. Results We randomised 3906 members. After excluding those who enrolled in HF or departed from the Vitality programme before the first intervention email, 3665 (94%) were included in a modified intent-to-treat analysis. All 4 experimental arms had significantly higher HF enrolment rates compared with control (p<0.0001 for all comparisons). When comparing experimental arms, the diabetes-specific message with the EAC had a significantly higher enrolment rate (12.6%) than the diabetes-specific message alone (7.6%, p=0.0016). Conclusions Messages focused on diabetes were effective at increasing enrolment in a healthy food programme. The addition of a framed active choice to a message significantly raised enrolment rates in this population. These findings suggest that simple, low-cost interventions can enhance enrolment in health promoting programmes and also be pragmatically tested within those programmes. Trial registration number NCT02462057. PMID:27903559

The genetic difference principle.

PubMed

Farrelly, Colin

2004-01-01

In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

The development and piloting of the REnal specific Advanced Communication Training (REACT) programme to improve Advance Care Planning for renal patients.

PubMed

Bristowe, Katherine; Shepherd, Kate; Bryan, Liz; Brown, Heather; Carey, Irene; Matthews, Beverley; O'Donoghue, Donal; Vinen, Katie; Murtagh, Fliss E M

2014-04-01

In recent years, the End-Stage Kidney Disease population has increased and is ever more frail, elderly and co-morbid. A care-focused approach needs to be incorporated alongside the disease focus, to identify those who are deteriorating and improve communication about preferences and future care. Yet many renal professionals feel unprepared for such discussions. To develop and pilot a REnal specific Advanced Communication Training (REACT) programme to address the needs of End-Stage Kidney Disease patients and renal professionals. Two-part study: (1) development of the REnal specific Advanced Communication Training programme informed by multi-professional focus group and patient survey and (2) piloting of the programme. The REnal specific Advanced Communication Training programme was piloted with 16 participants (9 renal nurses/health-care assistants and 7 renal consultants) in two UK teaching hospitals. The focus group identified the need for better information about end-of-life phase, improved awareness of patient perspectives, skills to manage challenging discussions, 'hands on' practice in a safe environment and follow-up to discuss experiences. The patient survey demonstrated a need to improve communication about concerns, treatment plans and decisions. The developed REnal specific Advanced Communication Training programme was acceptable and feasible and was associated with a non-significant increase in confidence in communicating about end-of-life issues (pre-training: 6.6/10, 95% confidence interval: 5.7-7.4; post-training: 6.9/10, 95% confidence interval: 6.1-7.7, unpaired t-test - p = 0.56), maintained at 3 months. There is a need to improve end-of-life care for End-Stage Kidney Disease patients, to enable them to make informed decisions about future care. Challenges include prioritising communication training among service providers.

Applying a Genetic Algorithm to Reconfigurable Hardware

NASA Technical Reports Server (NTRS)

Wells, B. Earl; Weir, John; Trevino, Luis; Patrick, Clint; Steincamp, Jim

2004-01-01

This paper investigates the feasibility of applying genetic algorithms to solve optimization problems that are implemented entirely in reconfgurable hardware. The paper highlights the pe$ormance/design space trade-offs that must be understood to effectively implement a standard genetic algorithm within a modem Field Programmable Gate Array, FPGA, reconfgurable hardware environment and presents a case-study where this stochastic search technique is applied to standard test-case problems taken from the technical literature. In this research, the targeted FPGA-based platform and high-level design environment was the Starbridge Hypercomputing platform, which incorporates multiple Xilinx Virtex II FPGAs, and the Viva TM graphical hardware description language.

Tetraploid Wheat Landraces in the Mediterranean Basin: Taxonomy, Evolution and Genetic Diversity

PubMed Central

Oliveira, Hugo R.; Campana, Michael G.; Jones, Huw; Hunt, Harriet V.; Leigh, Fiona; Redhouse, David I.; Lister, Diane L.; Jones, Martin K.

2012-01-01

The geographic distribution of genetic diversity and the population structure of tetraploid wheat landraces in the Mediterranean basin has received relatively little attention. This is complicated by the lack of consensus concerning the taxonomy of tetraploid wheats and by unresolved questions regarding the domestication and spread of naked wheats. These knowledge gaps hinder crop diversity conservation efforts and plant breeding programmes. We investigated genetic diversity and population structure in tetraploid wheats (wild emmer, emmer, rivet and durum) using nuclear and chloroplast simple sequence repeats, functional variations and insertion site-based polymorphisms. Emmer and wild emmer constitute a genetically distinct population from durum and rivet, the latter seeming to share a common gene pool. Our population structure and genetic diversity data suggest a dynamic history of introduction and extinction of genotypes in the Mediterranean fields. PMID:22615891

Community-based pilot intervention to tackle childhood obesity: a whole-system approach.

PubMed

Vamos, E P; Lewis, E; Junghans, C; Hrobonova, E; Dunsford, E; Millett, C

2016-11-01

Go-Golborne is a pilot intervention to prevent childhood obesity in the Royal Borough of Kensington and Chelsea between 2014 and 2018. It is a multistrategy approach targeting children aged 0-16 years and their families in all settings where children live, learn and play. This paper describes the methodology and the practical steps in the development of Go-Golborne. The programme uses a quasi-experimental design for the evaluation of changes in weight status using data from the extended National Child Measurement Programme across local schools. For specific behavioural change objectives, baseline self-reported lifestyle measures will be compared against annual follow-up data over the 3-year study period. Qualitative methods will be used to explore the perceptions of stakeholders and participants and organizational change. Go-Golborne aims to mobilize everyone in the community who has a role or interest in shaping the local environment, norms and behaviours across a range of sectors. A community network of local organizations has been established to codesign all programme activities. The Steering Group of Council officers support programme implementation and environmental changes. The programme has identified six specific behaviour change objectives representing the key areas of need in Golborne and all activities in the council and the community target these objectives during specific programme phases. Key components include community capacity building, community-wide social marketing, environment and policy change and evaluation. The programme is currently at the beginning of its implementation phase with activities in the community and council targeting the first behaviour change objective. The pilot aims to test the effectiveness of this approach to support behaviour change and prevent unhealthy weight gain in children using multiple strategies. This programme will inform the development of an intervention model that defines essential programme components, accountability of partner organizations delivering obesity prevention programmes and the effective use of existing assets. Copyright © 2016 The Royal Society for Public Health. All rights reserved.

The neurogenetics of alternative splicing

PubMed Central

Vuong, Celine K.; Black, Douglas L.; Zheng, Sika

2016-01-01

Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in mammals and is controlled by specialized RNA-binding proteins. The misregulation of splicing is implicated in multiple neurological disorders. We describe recent mouse genetic studies of alternative splicing that reveal its critical role in both neuronal development and the function of mature neurons. We discuss the challenges in understanding the extensive genetic programmes controlled by proteins that regulate splicing, both during development and in the adult brain. PMID:27094079

Community-based livestock breeding programmes: essentials and examples.

PubMed

Mueller, J P; Rischkowsky, B; Haile, A; Philipsson, J; Mwai, O; Besbes, B; Valle Zárate, A; Tibbo, M; Mirkena, T; Duguma, G; Sölkner, J; Wurzinger, M

2015-04-01

Breeding programmes described as community-based (CBBP) typically relate to low-input systems with farmers having a common interest to improve and share their genetic resources. CBBPs are more frequent with keepers of small ruminants, in particular smallholders of local breeds, than with cattle, pigs or chickens with which farmers may have easier access to alternative programmes. Constraints that limit the adoption of conventional breeding technologies in low-input systems cover a range of organizational and technical aspects. The analysis of 8 CBBPs located in countries of Latin-America, Africa and Asia highlights the importance of bottom-up approaches and involvement of local institutions in the planning and implementation stages. The analysis also reveals a high dependence of these programmes on organizational, technical and financial support. Completely self-sustained CBBPs seem to be difficult to realize. There is a need to implement and document formal socio-economic evaluations of CBBPs to provide governments and other development agencies with the information necessary for creating sustainable CBBPs at larger scales. © 2015 Blackwell Verlag GmbH.

Early Childhood Care and Education: A Child Perspective Paradigm

ERIC Educational Resources Information Center

Sommer, Dion; Pramling Samuelsson, Ingrid; Hundeide, Karsten

2013-01-01

From research we know that there is no specific early childhood education programme that is superior to other approaches (National Research Council. 2001). At the same time, historically it looks like people think there is a specific programme that will solve all problems and guarantee a high quality in early years education, since different…

A Case Study of a College-Wide First-Year Undergraduate Engineering Course

ERIC Educational Resources Information Center

Aloul, Fadi; Zualkernan, Imran; Husseini, Ghaleb; El-Hag, Ayman; Al-Assaf, Yousef

2015-01-01

Introductory engineering courses are either programme specific or expose students to engineering as a broad discipline by including materials from various engineering programmes. A common introductory engineering course that spans different engineering programmes raises challenges, including the high cost of resources as well as the lack of…

Effects of College Programme Characteristics on Graduates' Performance

ERIC Educational Resources Information Center

García-Aracil, Adela

2015-01-01

Education programmes are designed to equip young populations with the qualifications required to assume responsible roles in specific professions and in society generally. In this paper, the focus of the analysis is on the significance of a number of higher education programme characteristics in allocating young higher education graduates across…

Context Matters in Programme Implementation

ERIC Educational Resources Information Center

Clarke, Aleisha M.; O'Sullivan, Maeve; Barry, Margaret M.

2010-01-01

Purpose: This paper seeks to report on the evaluation of Zippy's Friends, an international emotional wellbeing programme, for primary school children in disadvantaged schools in Ireland. The paper aims to present case studies of the profile and ethos of two specific schools participating in the programme, their links with the local community, the…

Diabetes education: what do adolescents want?

PubMed

Chaney, David; Coates, Vivien; Shevlin, Mark; Carson, Dennis; McDougall, Andrea; Long, Arlene

2012-01-01

To establish adolescents' beliefs regarding the need for structured diabetes education and their views on how such a programme should be organised and what topics need to be addressed. Structured diabetes education programmes have become common place in diabetes care in recent years. Despite the use of these programmes in adult patients, to date, there exists no tried or tested programme for adolescents. Prior to the development of programmes for this age group, there is a need to establish their views on programme content, delivery mechanisms and how best to introduce structured education in this population. An exploratory qualitative study. Five focus group interviews were undertaken across three acute Hospital Trusts in Northern Ireland. A total of 21 adolescents between 13-19 years were interviewed. Data were analysed by means of a thematic content analysis framework. All participants expressed a need for a structured education programme specifically tailored to their needs. The complexity of existing diabetes regimens brought with it feelings of frustration and guilt for the majority of adolescents. Many felt isolated and alone. Dietary management and insulin adjustment were seen as very complex. Participants favoured a structured diabetes education programme that was short in duration, practical in nature, positive in outlook and relevant to daily life. Relevance to clinical practice.  Programmes should address the specific needs of adolescents, be delivered in a practical manner and be realistic for everyday use. © 2011 Blackwell Publishing Ltd.

Technology-Enhanced Physics Programme for Community-Based Science Learning: Innovative Design and Programme Evaluation in a Theme Park

NASA Astrophysics Data System (ADS)

Tho, Siew Wei; Chan, Ka Wing; Yeung, Yau Yuen

2015-10-01

In this study, a new physics education programme is specifically developed for a famous theme park in Hong Kong to provide community-based science learning to her visitors, involving her three newly constructed rides. We make innovative use of digital technologies in this programme and incorporate a rigorous evaluation of the learning effectiveness of the programme. A total of around 200 students from nine local secondary schools participated in both the physics programme and its subsequent evaluation which consists of a combination of research and assessment tools, including pre- and post-multiple-choice tests, a questionnaire survey and an interview as specifically developed for this programme, or adopted from some well-accepted research instruments. Based on the evaluation of students' academic performance, there are two educationally significant findings on enhancing the students' physics learning: (a) traditionally large gender differences in physics performance and interest of learning are mostly eliminated; and (b) a less-exciting ride called the aviator (instead of the most exciting roller-coaster ride) can induce the largest learning effect (or gain in academic performance) amongst teenagers. Besides, findings from the questionnaire survey and interviews of participants are reported to reveal their views, perceptions, positive and negative comments or feedback on this programme which could provide valuable insights for future development of other similar community-based programmes.

Coverage of Community-Based Management of Severe Acute Malnutrition Programmes in Twenty-One Countries, 2012-2013

PubMed Central

Rogers, Eleanor; Myatt, Mark; Woodhead, Sophie; Guerrero, Saul; Alvarez, Jose Luis

2015-01-01

Objective This paper reviews coverage data from programmes treating severe acute malnutrition (SAM) collected between July 2012 and June 2013. Design This is a descriptive study of coverage levels and barriers to coverage collected by coverage assessments of community-based SAM treatment programmes in 21 countries that were supported by the Coverage Monitoring Network. Data from 44 coverage assessments are reviewed. Setting These assessments analyse malnourished populations from 6 to 59 months old to understand the accessibility and coverage of services for treatment of acute malnutrition. The majority of assessments are from sub-Saharan Africa. Results Most of the programmes (33 of 44) failed to meet context-specific internationally agreed minimum standards for coverage. The mean level of estimated coverage achieved by the programmes in this analysis was 38.3%. The most frequently reported barriers to access were lack of awareness of malnutrition, lack of awareness of the programme, high opportunity costs, inter-programme interface problems, and previous rejection. Conclusions This study shows that coverage of CMAM is lower than previous analyses of early CTC programmes; therefore reducing programme impact. Barriers to access need to be addressed in order to start improving coverage by paying greater attention to certain activities such as community sensitisation. As barriers are interconnected focusing on specific activities, such as decentralising services to satellite sites, is likely to increase significantly utilisation of nutrition services. Programmes need to ensure that barriers are continuously monitored to ensure timely removal and increased coverage. PMID:26042827

Universities, SMEs and Social Capital: Can You Get Too Much of a Good Thing? An Illustrative Analysis of One University's Knowledge Exchange Programme

ERIC Educational Resources Information Center

Gordon, Ian

2016-01-01

This article explores a university knowledge exchange programme for small and medium-sized enterprise (SME) owner-managers. Specifically, it considers why a programme designed to achieve growth in a group of SMEs through the creation of a network high in social capital may have become a constraint on the programme's effectiveness over a period of…

Programmable and Multifunctional DNA-Based Materials for Biomedical Applications.

PubMed

Zhang, Yuezhou; Tu, Jing; Wang, Dongqing; Zhu, Haitao; Maity, Sajal Kumar; Qu, Xiangmeng; Bogaert, Bram; Pei, Hao; Zhang, Hongbo

2018-06-01

DNA encodes the genetic information; recently, it has also become a key player in material science. Given the specific Watson-Crick base-pairing interactions between only four types of nucleotides, well-designed DNA self-assembly can be programmable and predictable. Stem-loops, sticky ends, Holliday junctions, DNA tiles, and lattices are typical motifs for forming DNA-based structures. The oligonucleotides experience thermal annealing in a near-neutral buffer containing a divalent cation (usually Mg 2+ ) to produce a variety of DNA nanostructures. These structures not only show beautiful landscape, but can also be endowed with multifaceted functionalities. This Review begins with the fundamental characterization and evolutionary trajectory of DNA-based artificial structures, but concentrates on their biomedical applications. The coverage spans from controlled drug delivery to high therapeutic profile and accurate diagnosis. A variety of DNA-based materials, including aptamers, hydrogels, origamis, and tetrahedrons, are widely utilized in different biomedical fields. In addition, to achieve better performance and functionality, material hybridization is widely witnessed, and DNA nanostructure modification is also discussed. Although there are impressive advances and high expectations, the development of DNA-based structures/technologies is still hindered by several commonly recognized challenges, such as nuclease instability, lack of pharmacokinetics data, and relatively high synthesis cost. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

An autonomous molecular computer for logical control of gene expression.

PubMed

Benenson, Yaakov; Gil, Binyamin; Ben-Dor, Uri; Adar, Rivka; Shapiro, Ehud

2004-05-27

Early biomolecular computer research focused on laboratory-scale, human-operated computers for complex computational problems. Recently, simple molecular-scale autonomous programmable computers were demonstrated allowing both input and output information to be in molecular form. Such computers, using biological molecules as input data and biologically active molecules as outputs, could produce a system for 'logical' control of biological processes. Here we describe an autonomous biomolecular computer that, at least in vitro, logically analyses the levels of messenger RNA species, and in response produces a molecule capable of affecting levels of gene expression. The computer operates at a concentration of close to a trillion computers per microlitre and consists of three programmable modules: a computation module, that is, a stochastic molecular automaton; an input module, by which specific mRNA levels or point mutations regulate software molecule concentrations, and hence automaton transition probabilities; and an output module, capable of controlled release of a short single-stranded DNA molecule. This approach might be applied in vivo to biochemical sensing, genetic engineering and even medical diagnosis and treatment. As a proof of principle we programmed the computer to identify and analyse mRNA of disease-related genes associated with models of small-cell lung cancer and prostate cancer, and to produce a single-stranded DNA molecule modelled after an anticancer drug.

Study books on ADHD genetics: balanced or biased?

PubMed

Te Meerman, Sanne; Batstra, Laura; Hoekstra, Rink; Grietens, Hans

2017-06-01

Academic study books are essential assets for disseminating knowledge about ADHD to future healthcare professionals. This study examined if they are balanced with regard to genetics. We selected and analyzed study books (N=43) used in (pre) master's programmes at 10 universities in the Netherlands. Because the mere behaviourally informed quantitative genetics give a much higher effect size of the genetic involvement in ADHD, it is important that study books contrast these findings with molecular genetics' outcomes. The latter studies use real genetic data, and their low effect sizes expose the potential weaknesses of quantitative genetics, like underestimating the involvement of the environment. Only a quarter of books mention both effect sizes and contrast these findings, while another quarter does not discuss any effect size. Most importantly, however, roughly half of the books in our sample mention only the effect sizes from quantitative genetic studies without addressing the low explained variance of molecular genetic studies. This may confuse readers by suggesting that the weakly associated genes support the quite spectacular, but potentially flawed estimates of twin, family and adoption studies, while they actually contradict them.

Exploring the experience of facilitating self-management with minority ethnic stroke survivors: a qualitative study of therapists' perceptions

PubMed Central

Jones, Fiona; Kilbride, Cherry; Victor, Christina

2014-01-01

Purpose: The utility of self-management with people from minority ethnic backgrounds has been questioned, resulting in the development of culturally specific tools. Yet, the use of stroke specific self-management programmes is underexplored in these high risk groups. This article presents the experience of stroke therapists in using a stroke specific self-management programme with stroke survivors from minority ethnic backgrounds. Methods: 26 stroke therapists with experience of using the self-management programme with stroke survivors from minority ethnic backgrounds participated in semi-structured interviews. These were audio recorded, transcribed verbatim and analysed thematically. Results: Three themes were identified. One questioned perceived differences in stroke survivors interaction with self-management based on ethnicity. The other themes contrasted with this view demonstrating two areas in which ethnic and cultural attributes were deemed to influence the self-management process both positively and negatively. Aspects of knowledge of health, illness and recovery, religion, family and the professionals themselves are highlighted. Conclusions: This study indicates that ethnicity should not be considered a limitation to the use of an individualized stroke specific self-management programme. However, it highlights potential facilitators and barriers, many of which relate to the capacity of the professional to effectively navigate cultural and ethnic differences. Implications for Rehabilitation Stroke therapists suggest that ethnicity should not be considered a barrier to successful engagement with a stroke specific self-management programme. Health, illness and recovery beliefs along with religion and the specific role of the family do however need to be considered to maximize the effectiveness of the programme. A number of the facilitators and barriers identified are not unique to stroke survivors from ethnic minority communities, nor shared by all. The therapists skills at negotiating identified barriers to self-management are highlighted as an area for further development. PMID:24670190

Programmable genetic switches to control transcriptional machinery of pluripotency.

PubMed

Pandian, Ganesh N; Sugiyama, Hiroshi

2012-06-01

Transcriptional activators play a central role in the regulation of gene expression and have the ability to manipulate the specification of cell fate. Pluripotency is a transient state where a cell has the potential to develop into more than one type of mature cell. The induction of pluripotency in differentiated cells requires extensive chromatin reorganization regulated by core transcriptional machinery. Several small molecules have been shown to enhance the efficiency of somatic cell reprogramming into pluripotent stem cells. However, entirely chemical-based reprogramming remains elusive. Recently, we reported that selective DNA-binding hairpin pyrrole-imidazole polyamides conjugated with histone deacetylase inhibitor could mimic natural transcription factors and epigenetically activate certain pluripotency-associated genes. Here, we review the need to develop selective chromatin-modifying transcriptional activators for somatic genome reprogramming. Copyright © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

An electric stimulation system for electrokinetic particle manipulation in microfluidic devices.

PubMed

Lopez-de la Fuente, M S; Moncada-Hernandez, H; Perez-Gonzalez, V H; Lapizco-Encinas, B H; Martinez-Chapa, S O

2013-03-01

Microfluidic devices have grown significantly in the number of applications. Microfabrication techniques have evolved considerably; however, electric stimulation systems for microdevices have not advanced at the same pace. Electric stimulation of micro-fluidic devices is an important element in particle manipulation research. A flexible stimulation instrument is desired to perform configurable, repeatable, automated, and reliable experiments by allowing users to select the stimulation parameters. The instrument presented here is a configurable and programmable stimulation system for electrokinetic-driven microfluidic devices; it consists of a processor, a memory system, and a user interface to deliver several types of waveforms and stimulation patterns. It has been designed to be a flexible, highly configurable, low power instrument capable of delivering sine, triangle, and sawtooth waveforms with one single frequency or two superimposed frequencies ranging from 0.01 Hz to 40 kHz, and an output voltage of up to 30 Vpp. A specific stimulation pattern can be delivered over a single time period or as a sequence of different signals for different time periods. This stimulation system can be applied as a research tool where manipulation of particles suspended in liquid media is involved, such as biology, medicine, environment, embryology, and genetics. This system has the potential to lead to new schemes for laboratory procedures by allowing application specific and user defined electric stimulation. The development of this device is a step towards portable and programmable instrumentation for electric stimulation on electrokinetic-based microfluidic devices, which are meant to be integrated with lab-on-a-chip devices.

An electric stimulation system for electrokinetic particle manipulation in microfluidic devices

NASA Astrophysics Data System (ADS)

Lopez-de la Fuente, M. S.; Moncada-Hernandez, H.; Perez-Gonzalez, V. H.; Lapizco-Encinas, B. H.; Martinez-Chapa, S. O.

2013-03-01

Microfluidic devices have grown significantly in the number of applications. Microfabrication techniques have evolved considerably; however, electric stimulation systems for microdevices have not advanced at the same pace. Electric stimulation of micro-fluidic devices is an important element in particle manipulation research. A flexible stimulation instrument is desired to perform configurable, repeatable, automated, and reliable experiments by allowing users to select the stimulation parameters. The instrument presented here is a configurable and programmable stimulation system for electrokinetic-driven microfluidic devices; it consists of a processor, a memory system, and a user interface to deliver several types of waveforms and stimulation patterns. It has been designed to be a flexible, highly configurable, low power instrument capable of delivering sine, triangle, and sawtooth waveforms with one single frequency or two superimposed frequencies ranging from 0.01 Hz to 40 kHz, and an output voltage of up to 30 Vpp. A specific stimulation pattern can be delivered over a single time period or as a sequence of different signals for different time periods. This stimulation system can be applied as a research tool where manipulation of particles suspended in liquid media is involved, such as biology, medicine, environment, embryology, and genetics. This system has the potential to lead to new schemes for laboratory procedures by allowing application specific and user defined electric stimulation. The development of this device is a step towards portable and programmable instrumentation for electric stimulation on electrokinetic-based microfluidic devices, which are meant to be integrated with lab-on-a-chip devices.

Banteng and Bali cattle in Indonesia: status and forecasts.

PubMed

Purwantara, B; Noor, R R; Andersson, G; Rodriguez-Martinez, H

2012-01-01

Bali cattle still represents 27% of the total cattle population in Indonesia, and it is considered the pillar breed for small farmers. Moreover, it is a breed of evolutionary importance regarding its direct ancestry from Banteng. However, there is a need for the establishment of a rational system for the evaluation of breeding soundness for indigenous Bali bulls to be used as sires for artificial insemination breeding programmes. Moreover, there is a need for cryobanking of well-identified genetic resources pertaining their use in evolutionary research and application as essential germplasm in breeding programmes. © 2012 Blackwell Verlag GmbH.

Complex genetic structure of the rabies virus in Bangkok and its surrounding provinces, Thailand: implications for canine rabies control.

PubMed

Lumlertdacha, Boonlert; Wacharapluesadee, Supaporn; Denduangboripant, Jessada; Ruankaew, Nipada; Hoonsuwan, Wirongrong; Puanghat, Apirom; Sakarasaeranee, Plyyonk; Briggs, Deborrah; Hemachudha, Thiravat

2006-03-01

Dog vaccination and population management have been suggested as priorities in attempts at disease control in canine rabies-endemic countries. Budget limitations and the complexity of social, cultural and religious variables have complicated progress in the developing world. In Bangkok, Thailand, an intensive canine vaccination and sterilization programme has been in place since November 2002. Our objective was to determine if the rabies virus could be mapped according to its genetic variations and geographical location on the small localized scale of Bangkok and its surrounding provinces. Phylogenetic characterization of 69 samples from Bangkok and five neighbouring and two remote provinces, by limited sequence analysis of the rabies virus nucleoprotein gene, distinguished six different clades. Rabies viruses of four clades were intermixed in Bangkok and in the surrounding highly populated regions whereas the other two clades were confined to rural and less populated provinces. Such a complex pattern of gene flow, particularly in Bangkok, may affect the outcome of canine control programmes.

Reduction in antipredator response detected between first and second generations of endangered juvenile Atlantic salmon Salmo salar in a captive breeding and rearing programme.

PubMed

de Mestral, L G; Herbinger, C M

2013-11-01

Behaviour trials determining antipredator response were conducted on first and second generation juveniles from a captive breeding and rearing programme for endangered Inner Bay of Fundy Atlantic salmon Salmo salar. Second generation captive fry displayed significantly higher levels of risk-taking behaviour before and after exposure to a simulated avian predator. Because the first and second generation fry were reared under the same environmental conditions and differed only in the number of generations spent in captivity, these results suggest that rapid genetic changes, possibly due to domestication selection, may have occurred. Antipredator response was also assessed in fully wild and highly domesticated experimental groups: wild fry displayed the greatest antipredator response and domesticated fry displayed the highest levels of risk-taking behaviour. These results add to the growing evidence documenting rapid genetic change in response to rearing in a captive environment. © 2013 The Fisheries Society of the British Isles.

Controversies in colorectal cancer screening.

PubMed

Pox, Christian P

2014-01-01

Colorectal cancer (CRC) is one of the most common cancers worldwide and a good candidate for screening programmes. However, there is controversy concerning which of the available screening tests should be used. There is general agreement that screening for CRC in the asymptomatic population should begin at the age of 50. Several different screening methods are available which can be separated into those that mainly detect cancers: faecal occult blood tests [guaiac (FOBT) and immunochemical (FIT)], genetic stool tests, blood tests and the M2-pyruvate kinase (M2-PK) test. Methods that detect cancers and polyps are colonoscopy, sigmoidoscopy, CT-colonography (CT-C) and colon capsule endoscopy. The only tests for which a reduction in CRC mortality compared to no screening have been proven in randomized trials are FOBT and sigmoidoscopy. Several trials suggest that FIT are superior to FOBT in terms of detection rates of cancers and advanced adenomas and possibly compliance. There is indirect evidence suggesting efficacy of colonoscopy as a screening test. The role of CT-C is controversial. There is data suggesting a good sensitivity for neoplasia >9 mm with a lower sensitivity for smaller neoplasia. However, radiation exposure is considered a major limitation in some countries. Unresolved questions include the lesion cut-off for referral to colonoscopy and work-up of extracolonic findings. For other methods, like genetic stool testing using newer markers, blood tests, capsule endoscopy and M2-PK, there is currently insufficient data on screening of the asymptomatic population. Key Messages: Colorectal screening is recommended and should be performed in the form of an organized programme. If detection of early-stage cancers is the aim of a screening programme, FIT seem to be superior to FOBT. If detection and removal of adenomas is the aim of a screening programme, endoscopic methods seem to be good alternatives. Sigmoidoscopy is easier to perform but will likely only have an effect on distal cancers. Colonoscopy is more invasive but enables inspection of the whole colon. The role of CT-C, capsule endoscopy, genetic stool tests, blood tests and M2-PK is currently unknown. © 2014 S. Karger AG, Basel.

The need for theory evaluation in global citizenship programmes: The case of the GCSA programme.

PubMed

Goodier, Sarah; Field, Carren; Goodman, Suki

2018-02-01

Many education programmes lack a documented programme theory. This is a problem for programme planners and evaluators as the ability to measure programme success is grounded in the plausibility of the programme's underlying causal logic. Where the programme theory has not been documented, conducting a theory evaluation offers a foundational evaluation step as it gives an indication of whether the theory behind a programme is sound. This paper presents a case of a theory evaluation of a Global Citizenship programme at a top-ranking university in South Africa, subsequently called the GCSA Programme. This evaluation highlights the need for documented programme theory in global citizenship-type programmes for future programme development. An articulated programme theory produced for the GCSA Programme, analysed against the available social science literature, indicated it is comparable to other such programmes in terms of its overarching framework. What the research found is that most other global citizenship programmes do not have an articulated programme theory. These programmes also do not explicitly link their specific activities to their intended outcomes, making demonstrating impact impossible. In conclusion, we argue that taking a theory-based approach can strengthen and enable outcome evaluations in global citizenship programmes. Copyright © 2017. Published by Elsevier Ltd.

How does race/ethnicity influence pharmacological response to asthma therapies?

PubMed

Cazzola, Mario; Calzetta, Luigino; Matera, Maria Gabriella; Hanania, Nicola A; Rogliani, Paola

2018-04-01

Our understanding of whether and/or how ethnicity influences pharmacological response to asthma therapies is still very scarce. A possible explanation for the increased asthma treatment failures observed in ethnic and racial minorities receiving asthma therapies is that some of these groups may have a pharmacogenomic predisposition to either nonresponse or to adverse response with a specific class of drugs. However, the effects of ethnicity on pharmacological response to asthma therapies are also, and mainly, determined by socioeconomic and environmental factors to a varying extent, depending on the ethnic groups. Areas covered: Genetic, socioeconomic and environmental factors that can affect the pharmacotherapeutic responses to asthma medications and their link(s) to race/ethnicity have been examined and critically discussed. Expert opinion: Differences in genetic ancestry are definitely non-modifiable factors, but socioeconomic and environmental disadvantages are all factors that can be modified. It is likely that improved outcomes may be achieved when tailored and multifaceted approaches that include home, school, and clinician-based interventions are implemented. Consequently, it is critical to determine if a clinical intervention programme combined with implementation strategies that attempt to reduce inequalities can reduce asthma disparities, including the influence of ethnicity and race on pharmacological response to asthma therapies.

Epistasis and the sensitivity of phenotypic screens for beta thalassaemia

PubMed Central

Penman, Bridget S; Gupta, Sunetra; Weatherall, David J

2015-01-01

Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur. PMID:25521998

Genetic tool development and systemic regulation in biosynthetic technology.

PubMed

Dai, Zhongxue; Zhang, Shangjie; Yang, Qiao; Zhang, Wenming; Qian, Xiujuan; Dong, Weiliang; Jiang, Min; Xin, Fengxue

2018-01-01

With the increased development in research, innovation, and policy interest in recent years, biosynthetic technology has developed rapidly, which combines engineering, electronics, computer science, mathematics, and other disciplines based on classical genetic engineering and metabolic engineering. It gives a wider perspective and a deeper level to perceive the nature of life via cell mechanism, regulatory networks, or biological evolution. Currently, synthetic biology has made great breakthrough in energy, chemical industry, and medicine industries, particularly in the programmable genetic control at multiple levels of regulation to perform designed goals. In this review, the most advanced and comprehensive developments achieved in biosynthetic technology were represented, including genetic engineering as well as synthetic genomics. In addition, the superiority together with the limitations of the current genome-editing tools were summarized.

Education or Training? A Comparative Perspective on Apprenticeships in England

ERIC Educational Resources Information Center

Mazenod, Anna

2016-01-01

This paper examines the expansive-restrictive continuum of apprenticeship learning in the context of different education and training systems. It compares the English state-funded apprenticeship programme for young people with the Finnish and the French programmes with a specific focus on access to learning through the programmes. These three…

Involving Stakeholders in Programme Theory Specification: Discussion of a Systematic, Consensus-Based Approach

ERIC Educational Resources Information Center

van Urk, Felix; Grant, Sean; Bonell, Chris

2016-01-01

The use of explicit programme theory to guide evaluation is widely recommended. However, practitioners and other partnering stakeholders often initiate programmes based on implicit theories, leaving researchers to explicate them before commencing evaluation. The current study aimed to apply a systematic method to undertake this process. We…

Developing Civic Leaders through an Experiential Learning Programme for Holocaust Education

ERIC Educational Resources Information Center

Clyde, Carol

2010-01-01

The purpose of this study is to examine the impact that involvement in an experiential learning programme for Holocaust education had on college and university participants' worldviews and civic leadership development. Results indicate that involvement in specific elements of the programme did have an impact. The student-focused, experiential…

The Case for an Integrated Approach to Transition Programmes at South Africa's Higher Education Institutions

ERIC Educational Resources Information Center

Young, Dallin George

2016-01-01

This paper advocates an integrated approach to transition programmes at South Africa's higher education institutions through drawing on the US literature on the first-year student experience and specific reference to behavioural interaction theory. The case for developing intentional and vertically integrated transition programmes is tied to: the…

Neurology expertise and postgraduate training programmes in the Arab world: a survey.

PubMed

Benamer, Hani T S

2010-01-01

Neurological disorders are increasingly recognised as a major public health problem, especially in the developing world. Having adequate neurology expertise to tackle this issue is essential. A 17-item survey was conducted to gather information about the number, training and location of neurologists and supportive facilities available to them in the 16 middle- and high-income Arab countries. Data about the availability of postgraduate training programmes was collected. Surveys were returned from all targeted countries. The population per neurologist ranges from 35,000 to just over two million, and the most neurologists are based in large cities. Most of the practising neurologists had received extensive training in neurology and/or passed specialty exams. The majority had all or part of their training abroad. Neuro-radiological and neuro-physiological investigations are generally available in most surveyed countries but neuro-genetics and neuro-immunology services are lacking. Neurology training programmes are available in ten Arab countries with a total of 504-524 trainees. The availability of neurologists, supportive services and training programmes varies between Arab countries. Further development of neurology expertise and local training programmes are needed. Copyright 2010 S. Karger AG, Basel.

[Quality of genetic services--analysis of medical genetic expert opinions solicited by private health insurance companies].

PubMed

Nippert, Reinhardt Peter; Schmidtke, Jörg

2012-01-01

Service quality for patients with genetic conditions can be assessed through the analysis of clinical genetic data sets, as was the case in this study. It represents a secondary analysis of a compilation of a single genetic expert's medical opinions covering the years 2000 to 2009, solicited by private health insurance companies with the intention of probing into medical necessity and adequacy of genetic testing ordered by physicians. Genetic testing has become an increasingly important part of clinical diagnostic services. Controlling these services does not only reduce costs but also saves patients from unwarranted over-utilisation. Therefore, the reasons given by doctors when ordering genetic tests are part of the quality of service delivery. The study revealed that more than 30% of the molecular genetic tests ordered lack sound medical reasoning and 30% of the cases studied show violation or neglect of guidelines and recommendations for diagnostic procedures with respect to genetic testing. In essence, the findings indicate a need for human genetic information among physicians. Their professional organisations are called upon to design and offer CME/CPD programmes in medical genetics to maintain and continually improve the quality of medical genetic care for patients with genetic conditions. Copyright © 2012. Published by Elsevier GmbH.

Genetic variability and structure of jaguar (Panthera onca) in Mexican zoos.

PubMed

Rueda-Zozaya, Pilar; Mendoza-Martínez, Germán D; Martínez-Gómez, Daniel; Monroy-Vilchis, Octavio; Godoy, José Antonio; Sunny, Armando; Palomares, Francisco; Chávez, Cuauhtémoc; Herrera-Haro, José

2016-02-01

Genealogical records of animals (studbook) are created to avoid reproduction between closely related individuals, which could cause inbreeding, particularly for such endangered species as the Panthera onca (Linnaeus, 1758). Jaguar is the largest felid in the Americas and is considered an important ecological key species. In Mexico, wild jaguar populations have been significantly reduced in recent decades, and population decline typically accompany decreases in genetic variation. There is no current census of captive jaguars in Mexico, and zoos do not follow a standardized protocol in breeding programs based on genetic studies. Here, we emphasise the importance of maintaining an adequate level of genetic variation and propose the implementation of standardised studbooks for jaguars in Mexico, mainly to avoid inbreeding. In addition, achieving the aims of studbook registration would provide a population genetic characterisation that could serve as a basis for ex situ conservation programmes.

Improving problem solving in primary school students: The effect of a training programme focusing on metacognition and working memory.

PubMed

Cornoldi, Cesare; Carretti, Barbara; Drusi, Silvia; Tencati, Chiara

2015-09-01

Despite doubts voiced on their efficacy, a series of studies has been carried out on the capacity of training programmes to improve academic and reasoning skills by focusing on underlying cognitive abilities and working memory in particular. No systematic efforts have been made, however, to test training programmes that involve both general and specific underlying abilities. If effective, these programmes could help to increase students' motivation and competence. This study examined the feasibility of improving problem-solving skills in school children by means of a training programme that addresses general and specific abilities involved in problem solving, focusing on metacognition and working memory. The project involved a sample of 135 primary school children attending eight classes in the third, fourth, and fifth grades (age range 8-10 years). The classes were assigned to two groups, one attending the training programme in the first 3 months of the study (Training Group 1) and the other serving as a waiting-list control group (Training Group 2). In the second phase of the study, the role of the two groups was reversed, with Training Group 2 attending the training instead of Training Group 1. The training programme led to improvements in both metacognitive and working memory tasks, with positive-related effects on the ability to solve problems. The gains seen in Training Group 1 were also maintained at the second post-test (after 3 months). Specific activities focusing on metacognition and working memory may contribute to modifying arithmetical problem-solving performance in primary school children. © 2015 The British Psychological Society.

Genetic structure of South African Nguni (Zulu) sheep populations reveals admixture with exotic breeds.

PubMed

Selepe, Mokhethi Matthews; Ceccobelli, Simone; Lasagna, Emiliano; Kunene, Nokuthula Winfred

2018-01-01

The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69) and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu) had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep.

Study books on ADHD genetics: balanced or biased?

PubMed Central

te Meerman, Sanne; Batstra, Laura; Hoekstra, Rink; Grietens, Hans

2017-01-01

ABSTRACT Academic study books are essential assets for disseminating knowledge about ADHD to future healthcare professionals. This study examined if they are balanced with regard to genetics. We selected and analyzed study books (N=43) used in (pre) master’s programmes at 10 universities in the Netherlands. Because the mere behaviourally informed quantitative genetics give a much higher effect size of the genetic involvement in ADHD, it is important that study books contrast these findings with molecular genetics’ outcomes. The latter studies use real genetic data, and their low effect sizes expose the potential weaknesses of quantitative genetics, like underestimating the involvement of the environment. Only a quarter of books mention both effect sizes and contrast these findings, while another quarter does not discuss any effect size. Most importantly, however, roughly half of the books in our sample mention only the effect sizes from quantitative genetic studies without addressing the low explained variance of molecular genetic studies. This may confuse readers by suggesting that the weakly associated genes support the quite spectacular, but potentially flawed estimates of twin, family and adoption studies, while they actually contradict them. PMID:28532325

Genetic structure of South African Nguni (Zulu) sheep populations reveals admixture with exotic breeds

PubMed Central

Kunene, Nokuthula Winfred

2018-01-01

The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69) and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu) had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep. PMID:29698497

Programmable lab-on-a-chip system for single cell analysis

NASA Astrophysics Data System (ADS)

Thalhammer, S.

2009-05-01

The collection, selection, amplification and detection of minimum genetic samples became a part of everyday life in medical and biological laboratories, to analyze DNA-fragments of pathogens, patient samples and traces on crime scenes. About a decade ago, a handful of researchers began discussing an intriguing idea. Could the equipment needed for everyday chemistry and biology procedures be shrunk to fit on a chip in the size of a fingernail? Miniature devices for, say, analysing DNA and proteins should be faster and cheaper than conventional versions. Lab-on-a-chip is an advanced technology that integrates a microfluidic system on a microscale chip device. The "laboratory" is created by means of channels, mixers, reservoirs, diffusion chambers, integrated electrodes, pumps, valves and more. With lab-ona- chip technology, complete laboratories on a square centimetre can be created. Here, a multifunctional programmable Lab-on-a-Chip driven by nanofluidics and controlled by surface acoustic waves (SAW) is presented. This system combines serial DNA-isolation-, amplification- and array-detection-process on a modified glass-platform. The fluid actuation is controlled via SAW by interdigital transducers implemented in the chemical modified chip surface. The chemical surface modification allows fluid handling in the sub-microliter range. Minute amount of sample material is extracted by laser-based microdissection out of e.g. histological sections at the single cell level. A few picogram of genetic material are isolated and transferred via a low-pressure transfer system (SPATS) onto the chip. Subsequently the genetic material inside single droplets, which behave like "virtual" beaker, is transported to the reaction and analysis centers on the chip surface via surface acoustic waves, mainly known as noise dumping filters in mobile phones. At these "biological reactors" the genetic material is processed, e.g. amplified via polymerase chain reaction methods, and genetically characterized.

Global Learning in England: Baseline Analysis of the Global Learning Programme Whole School Audit 2013-14. Research Paper No. 15 for the Global Learning Programme

ERIC Educational Resources Information Center

Hunt, Frances; Cara, Olga

2015-01-01

The Global Learning Programme in England is an initiative aimed at supporting the teaching and learning of global learning in schools in England at Key Stage 2 and Key Stage 3. It is a five-year national programme of support to schools to enhance their provision of global learning. Specifically, the GLP-E works with teachers to enhance their…

Exploring the development of existing sex education programmes for people with intellectual disabilities: an intervention mapping approach.

PubMed

Schaafsma, Dilana; Stoffelen, Joke M T; Kok, Gerjo; Curfs, Leopold M G

2013-03-01

People with intellectual disabilities face barriers that affect their sexual health. Sex education programmes have been developed by professionals working in the field of intellectual disabilities with the aim to overcome these barriers. The aim of this study was to explore the development of these programmes. Sex education programmes geared to people with intellectual disabilities were examined in the context of the Intervention Mapping protocol. Data were obtained via interviews with the programme developers. All programmes lack specific programme outcomes, do not have a theoretical basis, did not involve members of relevant groups in the development process and lack systematic evaluation. Based on our findings and the literature, we conclude that these programmes are unlikely to be effective. Future programmes should be developed using a more systematic and theory- and evidence-based approach. © 2012 Blackwell Publishing Ltd.

The genetics of green thorax, a new larval colour mutant, non-linked with ruby - eye locus in the malaria mosquito, Anopheles stephensi.

PubMed

Sanil, D; Shetty, N J

2009-06-01

Anopheles stephensi, an important vector of malaria continues to be distributed widely in the Indian subcontinent. The natural vigour of the species combined with its new tolerance, indeed resistance to insecticides has made it obligatory that we look for control methods involving genetic manipulation. Hence, there is an immediate need for greater understanding of the genetics of this vector species. One of the requirements for such genetic studies is the establishment of naturally occurring mutants, establishment of the genetic basis for the same and use of such mutants in the genetic transformation studies and other genetic control programme(s). This paper describes the isolation and genetic studies of a larval colour mutant, green thorax (gt), and linkage studies involving another autosomal recessive mutant ruby- eye (ru) in An. stephensi. After the initial discovery, the mutant green thorax was crossed inter se and pure homozygous stock of the mutant was established. The stock of the mutant ruby- eye, which has been maintained as a pure stock in the laboratory. Crosses were made between the wild type and mutant, green thorax to determine the mode of inheritance of green thorax. For linkage studies, crosses were made between the mutant green thorax and another autosomal recessive mutant ruby-eye. The percentage cross-over was calculated for the genes linkage relationship for gt and gt ru. Results of crosses between mutant and wild type showed that the inheritance of green thorax (gt) in An. stephensi is monofactorial in nature. The gt allele is recessive to wild type and is autosomal. The linkage studies showed no linkage between ru and gt. The mutant gt represents an excellent marker for An. stephensi as it is expressed in late III instar stage of larvae and is prominent in IV instar and pupal stages with complete penetrance and high viability. The said mutant could be easily identified without the aid of a microscope. This mutant can be used extensively to conduct basic and applied research. The mutant has been maintained in two large cages in our laboratory.

Genetic diversity and population structure in contemporary house sparrow populations along an urbanization gradient

PubMed Central

Vangestel, C; Mergeay, J; Dawson, D A; Callens, T; Vandomme, V; Lens, L

2012-01-01

House sparrow (Passer domesticus) populations have suffered major declines in urban as well as rural areas, while remaining relatively stable in suburban ones. Yet, to date no exhaustive attempt has been made to examine how, and to what extent, spatial variation in population demography is reflected in genetic population structuring along contemporary urbanization gradients. Here we use putatively neutral microsatellite loci to study if and how genetic variation can be partitioned in a hierarchical way among different urbanization classes. Principal coordinate analyses did not support the hypothesis that urban/suburban and rural populations comprise two distinct genetic clusters. Comparison of FST values at different hierarchical scales revealed drift as an important force of population differentiation. Redundancy analyses revealed that genetic structure was strongly affected by both spatial variation and level of urbanization. The results shown here can be used as baseline information for future genetic monitoring programmes and provide additional insights into contemporary house sparrow dynamics along urbanization gradients. PMID:22588131

Genetic diversity and population structure in contemporary house sparrow populations along an urbanization gradient.

PubMed

Vangestel, C; Mergeay, J; Dawson, D A; Callens, T; Vandomme, V; Lens, L

2012-09-01

House sparrow (Passer domesticus) populations have suffered major declines in urban as well as rural areas, while remaining relatively stable in suburban ones. Yet, to date no exhaustive attempt has been made to examine how, and to what extent, spatial variation in population demography is reflected in genetic population structuring along contemporary urbanization gradients. Here we use putatively neutral microsatellite loci to study if and how genetic variation can be partitioned in a hierarchical way among different urbanization classes. Principal coordinate analyses did not support the hypothesis that urban/suburban and rural populations comprise two distinct genetic clusters. Comparison of FST values at different hierarchical scales revealed drift as an important force of population differentiation. Redundancy analyses revealed that genetic structure was strongly affected by both spatial variation and level of urbanization. The results shown here can be used as baseline information for future genetic monitoring programmes and provide additional insights into contemporary house sparrow dynamics along urbanization gradients.

The zebrafish eye—a paradigm for investigating human ocular genetics

PubMed Central

Richardson, R; Tracey-White, D; Webster, A; Moosajee, M

2017-01-01

Although human epidemiological and genetic studies are essential to elucidate the aetiology of normal and aberrant ocular development, animal models have provided us with an understanding of the pathogenesis of multiple developmental ocular malformations. Zebrafish eye development displays in depth molecular complexity and stringent spatiotemporal regulation that incorporates developmental contributions of the surface ectoderm, neuroectoderm and head mesenchyme, similar to that seen in humans. For this reason, and due to its genetic tractability, external fertilisation, and early optical clarity, the zebrafish has become an invaluable vertebrate system to investigate human ocular development and disease. Recently, zebrafish have been at the leading edge of preclinical therapy development, with their amenability to genetic manipulation facilitating the generation of robust ocular disease models required for large-scale genetic and drug screening programmes. This review presents an overview of human and zebrafish ocular development, genetic methodologies employed for zebrafish mutagenesis, relevant models of ocular disease, and finally therapeutic approaches, which may have translational leads in the future. PMID:27612182

The Evidence Base for Early Childhood Education and Care Programme Investment: What We Know, What We Don't Know

ERIC Educational Resources Information Center

White, Linda A.; Prentice, Susan; Perlman, Michal

2015-01-01

An expanding body of research demonstrates that high quality early childhood education and care (ECEC) programmes generate positive outcomes for children; in response, policy makers in a number of countries are making significant programme investments. No research consensus, however, has emerged around the specific types of policy intervention…

A Comparative Study of Two Pre-Service Teacher Preparation Programmes in the USA and Romania

ERIC Educational Resources Information Center

Salajan, Florin D.; Duffield, Stacy K.; Glava, Adina E.; Glava, Catalin C.

2017-01-01

This article presents an overall exploratory comparison of two specific pre-service teacher preparation programmes at two research-intensive institutions of higher education in the USA and Romania. The main conclusions suggest that US and Romanian teacher candidates differ very little in their ratings of their respective programmes in terms of…

Evaluating the Impact of an Environmental Education Programme: An Empirical Study in Mexico

ERIC Educational Resources Information Center

Ruiz-Mallen, Isabel; Barraza, Laura; Bodenhorn, Barbara; Reyes-Garcia, Victoria

2009-01-01

This study draws on information from 11 in-depth interviews, two focus groups and 72 written questionnaires to evaluate an extra-curricular environmental education programme on forestry designed for preparatory school students from a small rural community in Mexico. Specifically, the study assessed the impact of the programme on the ecological…

Diving in and Exploring Curricular Frameworks: The New Zealand Marine Studies Centre Programme

ERIC Educational Resources Information Center

Riley, Tracy; MacIntyre, Bill; Bicknell, Brenda; Cutler, Steve

2010-01-01

The New Zealand Marine Studies Centre has developed a programme for secondary gifted and talented students offering hands-on science in the real world. These programmes are designed to include elements of the Enrichment Triad Model (ETM), specifically the three types of enrichment, and, to a lesser degree, some aspects of the Schoolwide Enrichment…

Development of Health Promoting Leadership--Experiences of a Training Programme

ERIC Educational Resources Information Center

Eriksson, Andrea; Axelsson, Runo; Axelsson, Susanna Bihari

2010-01-01

Purpose: The purpose of this paper is to describe and analyse the experiences of an intervention programme for development of health promoting leadership in Gothenburg in Sweden. The more specific purpose is to identify critical aspects of such a programme as part of the development of a health promoting workplace. Design/methodology/approach: A…

Increasing Programme Effectiveness through Parent Empowerment: The Getting Ready for School Project in Tajikistan

ERIC Educational Resources Information Center

Whitsel, Christopher Michael; Lapham, Kate

2014-01-01

Within the development studies framework, empowerment involves increasing individual agency vis-à-vis the formal and informal opportunity structure. The Open Society Foundation's Early Childhood Programme developed the Getting Ready for School programme specifically for parents of preschool-age children to use at home in the year before school to…

Genome Editing of Monkey.

PubMed

Liu, Zhen; Cai, Yijun; Sun, Qiang

2017-01-01

Gene-modified monkey models would be particularly valuable in biomedical and neuroscience research. Virus-based transgenic and programmable nucleases-based site-specific gene editing methods (TALEN, CRISPR-cas9) enable the generation of gene-modified monkeys with gain or loss of function of specific genes. Here, we describe the generation of transgenic and knock-out (KO) monkeys with high efficiency by lentivirus and programmable nucleases.

Randomised controlled trial of alternative messages to increase enrolment in a healthy food programme among individuals with diabetes.

PubMed

Gopalan, A; Paramanund, J; Shaw, P A; Patel, D; Friedman, J; Brophy, C; Buttenheim, A M; Troxel, A B; Asch, D A; Volpp, K G

2016-11-30

We compared the effectiveness of diabetes-focused messaging strategies at increasing enrolment in a healthy food programme among adults with diabetes. Vitality is a multifaceted wellness benefit available to members of Discovery Health, a South Africa-based health insurer. One of the largest Vitality programmes is HealthyFood (HF), an incentive-based programme designed to encourage healthier diets by providing up to 25% cashback on healthy food purchases. We randomised adults with type 2 diabetes to 1 of 5 arms: (1) control, (2) a diabetes-specific message, (3) a message with a recommendation of HF written from the perspective of a HF member with diabetes, (4) a message containing a physician's recommendation of HF, or (5) the diabetes-specific message from arm 2 paired with an 'enhanced active choice'(EAC). In an EAC, readers are asked to make an immediate choice (in this case, to enrol or not enrol); the pros and cons associated with the preferred and non-preferred options are highlighted. HF enrolment was assessed 1 month following the first emailed message. We randomised 3906 members. After excluding those who enrolled in HF or departed from the Vitality programme before the first intervention email, 3665 (94%) were included in a modified intent-to-treat analysis. All 4 experimental arms had significantly higher HF enrolment rates compared with control (p<0.0001 for all comparisons). When comparing experimental arms, the diabetes-specific message with the EAC had a significantly higher enrolment rate (12.6%) than the diabetes-specific message alone (7.6%, p=0.0016). Messages focused on diabetes were effective at increasing enrolment in a healthy food programme. The addition of a framed active choice to a message significantly raised enrolment rates in this population. These findings suggest that simple, low-cost interventions can enhance enrolment in health promoting programmes and also be pragmatically tested within those programmes. NCT02462057. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

An uncontrolled trial of multi-component care for first-episode psychosis: Effects on social cognition.

PubMed

Breitborde, Nicholas J K; Moe, Aubrey M; Woolverton, Cindy; Harrison-Monroe, Patricia; Bell, Emily K

2018-06-01

Growing evidence suggests that specialized, multi-component treatment programmes produce improvements in numerous outcomes among individuals with first-episode psychosis. However, these programmes often lack interventions specifically designed to address deficits in social cognition. This raises questions about the effectiveness of such programmes in addressing deficits in social cognition that accompany psychotic disorders. We investigated the effect of participation in a multi-component treatment programme on social cognition among 71 individuals with first-episode psychosis. Participants experienced gains in emotion processing, social knowledge, social perception and theory of mind. However, after controlling for multiple comparisons, these improvements were limited to theory of mind and recognition of social cues in low emotion interactions. Although our findings should be interpreted cautiously, they raise the possibility that individuals participating in multi-component treatment programmes for first-episode psychosis without interventions specifically targeting social cognition may still experience gains in social cognition. © 2017 John Wiley & Sons Australia, Ltd.

The theoretical model of the school-based prevention programme Unplugged.

PubMed

Vadrucci, Serena; Vigna-Taglianti, Federica D; van der Kreeft, Peer; Vassara, Maro; Scatigna, Maria; Faggiano, Fabrizio; Burkhart, Gregor

2016-12-01

Unplugged is a school-based prevention programme designed and tested in the EU-Dap trial. The programme consists of 12 units delivered by class teachers to adolescents 12-14 years old. It is a strongly interactive programme including a training of personal and social skills with a specific focus on normative beliefs. The aim of this work is to define the theoretical model of the program, the contribution of the theories to the units, and the targeted mediators. The programme integrates several theories: Social Learning, Social Norms, Health Belief, theory of Reasoned Action-Attitude, and Problem Behaviour theory. Every theory contributes to the development of the units' contents, with specific weights. Knowledge, risk perception, attitudes towards drugs, normative beliefs, critical and creative thinking, relationship skills, communication skills, assertiveness, refusal skills, ability to manage emotions and to cope with stress, empathy, problem solving and decision making skills are the targeted mediators of the program. © The Author(s) 2015.

Communication skills for extended duties dental nurses: the childsmile perspective.

PubMed

O'Keefe, Emma

2015-02-01

Good communication and influencing skills are key competency areas for dental nurses and are highly relevant when working with children and their families/carers in Childsmile, a national oral health improvement programme for children in Scotland. The General Dental Council (GDC) identifies communication skills as one of the nine principles for registrants; a large number of complaints seen by the GDC relate to allegations around communication and patient expectations not being fully met. Much time and investment has been spent in researching the role of the Extended Duties Dental Nurse (EDDN) and ensuring appropriate training is provided. While there is specific training for EDDNs delivering the Childsmile programme, the programme appreciates that good communication skills are a core component of all training programmes for dental nurses. This paper sets out to explore the role of EDDNs in Childsmile and specifically looks at the importance of good communication skills and how it facilitates and impacts on the delivery of the Childsmile programme in a variety of settings.

A Masters Programme in telecommunications management - demand-based curriculum design

NASA Astrophysics Data System (ADS)

Gharaibeh, Khaled M.; Kaylani, Hazem; Murphy, Noel; Brennan, Conor; Itradat, Awni; Al-Bataineh, Mohammed; Aloqlah, Mohammed; Salhieh, Loay; Altarazi, Safwan; Rawashdeh, Nathir; Bas Cerdá, María del Carmen; Conchado Peiró, Andrea; Al-Zoubi, Asem; Harb, Bassam; Bany Salameh, Haythem

2015-05-01

This paper presents a curriculum design approach for a Masters Programme in Telecommunications Management based on demand data obtained from surveying the needs of potential students of the proposed programme. Through online surveys disseminated at telecom companies in Jordan, it was possible to measure the demand for such a programme and to determine the required programme contents and specifications. The curriculum design is based on definition of programme outcomes and on using a house of quality approach (HOQ) to determine the list of courses required in the programme. Surveyed competencies are mapped to a long list of proposed courses in a HOQ in order to determine the importance of each of these courses. A final list of core and elective courses is then developed considering the contribution to programme outcomes and the academic standards.

Basics of genome editing technology and its application in livestock species.

PubMed

Petersen, Bjoern

2017-08-01

In the last decade, the research community has witnessed a blooming of targeted genome editing tools and applications. Novel programmable DNA nucleases such as zinc finger nucleases (ZFNs), transcription activator-like endonucleases (TALENs) and the clustered regularly interspaced short palindromic repeats/Cas9 system (CRISPR/Cas9) possess long recognition sites and are capable of cutting DNA in a very specific manner. These DNA nucleases mediate targeted genetic alterations by enhancing the DNA mutation rate via induction of double-strand breaks at a predetermined genomic site. Compared to conventional homologous recombination-based gene targeting, DNA nucleases, also referred to as Genome Editors (GEs), can increase the targeting rate around 10,000- to 100,000-fold. The successful application of different GEs has been shown in a myriad of different organisms, including insects, amphibians, plants, nematodes and several mammalian species, including human cells and embryos. In contrast to all other DNA nucleases, that rely on protein-DNA binding, CRISPR/Cas9 uses RNA to establish a specific binding of its DNA nuclease. Besides its capability to facilitate multiplexed genomic modifications in one shot, the CRISPR/Cas is much easier to design compared to all other DNA nucleases. Current results indicate that any DNA nuclease can be successfully employed in a broad range of organisms which renders them useful for improving the understanding of complex physiological systems such as reproduction, producing transgenic animals, including creating large animal models for human diseases, creating specific cell lines, and plants, and even for treating human genetic diseases. This review provides an update on DNA nucleases, their underlying mechanism and focuses on their application to edit the genome of livestock species. © 2017 Blackwell Verlag GmbH.

Studying Psychology: The Context of Other Disciplines

ERIC Educational Resources Information Center

Crozier, W. Ray; Cooper, Neil

2008-01-01

John Radford's stimulating article on psychology within higher education includes a paragraph on the context of psychology taught as a degree subject. He suggests that while statistics has an established presence on programmes and the discipline is increasingly informed by genetics, "approaches to human behaviour such as anthropology,…

Measuring management's perspective of data quality in Pakistan's Tuberculosis control programme: a test-based approach to identify data quality dimensions.

PubMed

Ali, Syed Mustafa; Anjum, Naveed; Kamel Boulos, Maged N; Ishaq, Muhammad; Aamir, Javariya; Haider, Ghulam Rasool

2018-01-16

Data quality is core theme of programme's performance assessment and many organizations do not have any data quality improvement strategy, wherein data quality dimensions and data quality assessment framework are important constituents. As there is limited published research about the data quality specifics that are relevant to the context of Pakistan's Tuberculosis control programme, this study aims at identifying the applicable data quality dimensions by using the 'fitness-for-purpose' perspective. Forty-two respondents pooled a total of 473 years of professional experience, out of which 223 years (47%) were in TB control related programmes. Based on the responses against 11 practical cases, adopted from the routine recording and reporting system of Pakistan's TB control programme (real identities of patient were masked), completeness, accuracy, consistency, vagueness, uniqueness and timeliness are the applicable data quality dimensions relevant to the programme's context, i.e. work settings and field of practice. Based on a 'fitness-for-purpose' approach to data quality, this study used a test-based approach to measure management's perspective and identified data quality dimensions pertinent to the programme and country specific requirements. Implementation of a data quality improvement strategy and achieving enhanced data quality would greatly help organizations in promoting data use for informed decision making.

Monitoring the efficacy of drugs for neglected tropical diseases controlled by preventive chemotherapy.

PubMed

Albonico, M; Levecke, B; LoVerde, P T; Montresor, A; Prichard, R; Vercruysse, J; Webster, J P

2015-12-01

In the last decade, pharmaceutical companies, governments and global health organisations under the leadership of the World Health Organization (WHO) have pledged large-scale donations of anthelmintic drugs, including ivermectin (IVM), praziquantel (PZQ), albendazole (ALB) and mebendazole (MEB). This worldwide scale-up in drug donations calls for strong monitoring systems to detect any changes in anthelmintic drug efficacy. This review reports on the outcome of the WHO Global Working Group on Monitoring of Neglected Tropical Diseases Drug Efficacy, which consists of three subgroups: (i) soil-transmitted helminthiases (ALB and MEB); (ii) onchocerciasis and lymphatic filariasis (IVM); and (iii) schistosomiasis (PZQ). Progress of ongoing work, challenges and research needs for each of the four main drugs used in helminthic preventive chemotherapy (PC) are reported, laying the ground for appropriate implementation of drug efficacy monitoring programmes under the co-ordination and guidelines of the WHO. Best practices for monitoring drug efficacy should be made available and capacity built as an integral part of neglected tropical disease (NTD) programme monitoring. Development of a disease-specific model to predict the impact of PC programmes, to detect outliers and to solicit responses is essential. Research studies on genetic polymorphisms in relation to low-efficacy phenotypes should be carried out to identify markers of putative resistance against all NTD drugs and ultimately to develop diagnostic assays. Development of combination and co-administration of NTD drugs as well as of new drug entities to boost the armamentarium of the few drugs available for NTD control and elimination should be pursued in parallel. Copyright © 2015 International Society for Chemotherapy of Infection and Cancer. Published by Elsevier Ltd. All rights reserved.

Genome editing in pluripotent stem cells: research and therapeutic applications

DOE Office of Scientific and Technical Information (OSTI.GOV)

Deleidi, Michela, E-mail: michela.deleidi@dzne.de; Hertie Institute for Clinical Brain Research, University of Tübingen; Yu, Cong

Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approaches with programmable nucleases have been successfully established in hPSCs and applied to study gene function, develop novel animal models and perform genetic and chemical screens. Several studies now show the successful editing of disease-linked alleles in somatic and patient-derived induced pluripotent stem cells (iPSCs) as well as in animal models. Importantly, initial clinical trials have shown the safety of programmable nucleases formore » ex vivo somatic gene therapy. In this context, the unlimited proliferation potential and the pluripotent properties of iPSCs may offer advantages for gene targeting approaches. However, many technical and safety issues still need to be addressed before genome-edited iPSCs are translated into the clinical setting. Here, we provide an overview of the available genome editing systems and discuss opportunities and perspectives for their application in basic research and clinical practice, with a particular focus on hPSC based research and gene therapy approaches. Finally, we discuss recent research on human germline genome editing and its social and ethical implications. - Highlights: • Programmable nucleases have proven efficient and specific for genome editing in human pluripotent stem cells (hPSCs). • Genome edited hPSCs can be employed to study gene function in health and disease as well as drug and chemical screens. • Genome edited hPSCs hold great promise for ex vivo gene therapy approaches. • Technical and safety issues should be first addressed to advance the clinical use of gene-edited hPSCs.« less

CRISPR-Cas9 Structures and Mechanisms.

PubMed

Jiang, Fuguo; Doudna, Jennifer A

2017-05-22

Many bacterial clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated (Cas) systems employ the dual RNA-guided DNA endonuclease Cas9 to defend against invading phages and conjugative plasmids by introducing site-specific double-stranded breaks in target DNA. Target recognition strictly requires the presence of a short protospacer adjacent motif (PAM) flanking the target site, and subsequent R-loop formation and strand scission are driven by complementary base pairing between the guide RNA and target DNA, Cas9-DNA interactions, and associated conformational changes. The use of CRISPR-Cas9 as an RNA-programmable DNA targeting and editing platform is simplified by a synthetic single-guide RNA (sgRNA) mimicking the natural dual trans-activating CRISPR RNA (tracrRNA)-CRISPR RNA (crRNA) structure. This review aims to provide an in-depth mechanistic and structural understanding of Cas9-mediated RNA-guided DNA targeting and cleavage. Molecular insights from biochemical and structural studies provide a framework for rational engineering aimed at altering catalytic function, guide RNA specificity, and PAM requirements and reducing off-target activity for the development of Cas9-based therapies against genetic diseases.

[Relevance of medical rehabilitation in disease management programmes].

PubMed

Lüngen, M; Lauterbach, K W

2003-10-01

Disease management programmes will increasingly be introduced in Germany due to the new risk adjustment scheme. The first disease management programmes started in 2003 for breast cancer and diabetes mellitus type II. German rehabilitation will have to face several challenges. Disease management programmes are strongly based on the notion of Evidence so that proof of the efficacy of a care giving task should be present. Verification of the evidence of the specifically German rehabilitation treatments must therefore be given. However, integration of rehabilitation in disease management programmes could lead to changes in the alignment of German rehabilitation. The essence of German rehabilitation, notably its holistic approach, could get lost with integration in disease management programmes.

Strengthening environmental and educational nutrition programmes in worksite cafeterias and supermarkets in The Netherlands.

PubMed

Steenhuis, I H; Van Assema, P; Glanz, K

2001-03-01

The purpose of this study was to assess conditions for the adoption and continued implementation of different healthy nutrition programmes in worksite cafeterias and supermarkets, i.e. an educational programme and two environmental programmes (a food labelling programme and a food supply programme). Twenty semi-structured interviews were conducted with representatives of worksite cafeterias and supermarkets. Concepts of theories of diffusion were used as a framework for the study. Questions were formulated about the attributes of the innovation, and organizational and personal characteristics that might influence programme adoption and implementation. Results indicated that educational and environmental programmes in both worksite cafeterias and supermarkets should meet specific requirements regarding programme design, methods and materials in order to be adopted and implemented. Besides, some important implementation strategies of the educational and environmental programmes were identified. It is concluded that it seems feasible to conduct educational and environmental intervention programmes in worksite cafeterias and supermarkets, but that certain conditions for adoption and continued implementation have to be met. Based on the implications of this study, the development of an educational programme, a labelling programme and a food supply programme was completed.

Talent identification and development programmes in sport : current models and future directions.

PubMed

Vaeyens, Roel; Lenoir, Matthieu; Williams, A Mark; Philippaerts, Renaat M

2008-01-01

Many children strive to attain excellence in sport. However, although talent identification and development programmes have gained popularity in recent decades, there remains a lack of consensus in relation to how talent should be defined or identified and there is no uniformly accepted theoretical framework to guide current practice. The success rates of talent identification and development programmes have rarely been assessed and the validity of the models applied remains highly debated. This article provides an overview of current knowledge in this area with special focus on problems associated with the identification of gifted adolescents. There is a growing agreement that traditional cross-sectional talent identification models are likely to exclude many, especially late maturing, 'promising' children from development programmes due to the dynamic and multidimensional nature of sport talent. A conceptual framework that acknowledges both genetic and environmental influences and considers the dynamic and multidimensional nature of sport talent is presented. The relevance of this model is highlighted and recommendations for future work provided. It is advocated that talent identification and development programmes should be dynamic and interconnected taking into consideration maturity status and the potential to develop rather than to exclude children at an early age. Finally, more representative real-world tasks should be developed and employed in a multidimensional design to increase the efficacy of talent identification and development programmes.

Transformations of software design and code may lead to reduced errors

NASA Technical Reports Server (NTRS)

Connelly, E. M.

1983-01-01

The capability of programmers and non-programmers to specify problem solutions by developing example-solutions and also for the programmers by writing computer programs was investigated; each method of specification was accomplished at various levels of problem complexity. The level of difficulty of each problem was reflected by the number of steps needed by the user to develop a solution. Machine processing of the user inputs permitted inferences to be developed about the algorithms required to solve a particular problem. The interactive feedback of processing results led users to a more precise definition of the desired solution. Two participant groups (programmers and bookkeepers/accountants) working with three levels of problem complexity and three levels of processor complexity were used. The experimental task employed required specification of a logic for solution of a Navy task force problem.

Engineering species-like barriers to sexual reproduction.

PubMed

Maselko, Maciej; Heinsch, Stephen C; Chacón, Jeremy M; Harcombe, William R; Smanski, Michael J

2017-10-12

Controlling the exchange of genetic information between sexually reproducing populations has applications in agriculture, eradication of disease vectors, control of invasive species, and the safe study of emerging biotechnology applications. Here we introduce an approach to engineer a genetic barrier to sexual reproduction between otherwise compatible populations. Programmable transcription factors drive lethal gene expression in hybrid offspring following undesired mating events. As a proof of concept, we target the ACT1 promoter of the model organism Saccharomyces cerevisiae using a dCas9-based transcriptional activator. Lethal overexpression of actin results from mating this engineered strain with a strain containing the wild-type ACT1 promoter.Genetic isolation of a genetically modified organism represents a useful strategy for biocontainment. Here the authors use dCas9-VP64-driven gene expression to construct a 'species-like' barrier to reproduction between two otherwise compatible populations.

Newborn screening: new developments, new dilemmas.

PubMed

Kerruish, N J; Robertson, S P

2005-07-01

Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality. However, proposals to expand the scope and complexity of such testing are not all supported by a similar level of evidence for unequivocal benefit. We argue that screening for genetic susceptibility to complex disorders is inherently different from standard screening and, while of potential value, must be considered separately from conventional testing.

Repurposing endogenous type I CRISPR-Cas systems for programmable gene repression

PubMed Central

Luo, Michelle L.; Mullis, Adam S.; Leenay, Ryan T.; Beisel, Chase L.

2015-01-01

CRISPR-Cas systems have shown tremendous promise as heterologous tools for genome editing and transcriptional regulation. Because these RNA-directed immune systems are found in most prokaryotes, an opportunity exists to harness the endogenous systems as convenient tools in these organisms. Here, we report that the Type I-E CRISPR-Cas system in Escherichia coli can be co-opted for programmable transcriptional repression. We found that deletion of the signature cas3 gene converted this immune system into a programmable gene regulator capable of reversible gene silencing of heterologous and endogenous genes. Targeting promoter regions yielded the strongest repression, whereas targeting coding regions showed consistent strand bias. Furthermore, multi-targeting CRISPR arrays could generate complex phenotypes. This strategy offers a simple approach to convert many endogenous Type I systems into transcriptional regulators, thereby expanding the available toolkit for CRISPR-mediated genetic control while creating new opportunities for genome-wide screens and pathway engineering. PMID:25326321

A programmable synthetic lineage-control network that differentiates human IPSCs into glucose-sensitive insulin-secreting beta-like cells

PubMed Central

Saxena, Pratik; Heng, Boon Chin; Bai, Peng; Folcher, Marc; Zulewski, Henryk; Fussenegger, Martin

2016-01-01

Synthetic biology has advanced the design of standardized transcription control devices that programme cellular behaviour. By coupling synthetic signalling cascade- and transcription factor-based gene switches with reverse and differential sensitivity to the licensed food additive vanillic acid, we designed a synthetic lineage-control network combining vanillic acid-triggered mutually exclusive expression switches for the transcription factors Ngn3 (neurogenin 3; OFF-ON-OFF) and Pdx1 (pancreatic and duodenal homeobox 1; ON-OFF-ON) with the concomitant induction of MafA (V-maf musculoaponeurotic fibrosarcoma oncogene homologue A; OFF-ON). This designer network consisting of different network topologies orchestrating the timely control of transgenic and genomic Ngn3, Pdx1 and MafA variants is able to programme human induced pluripotent stem cells (hIPSCs)-derived pancreatic progenitor cells into glucose-sensitive insulin-secreting beta-like cells, whose glucose-stimulated insulin-release dynamics are comparable to human pancreatic islets. Synthetic lineage-control networks may provide the missing link to genetically programme somatic cells into autologous cell phenotypes for regenerative medicine. PMID:27063289

Assessment of genetic diversity in lettuce (Lactuca sativa L.) germplasm using RAPD markers.

PubMed

Sharma, Shubhangi; Kumar, Pankaj; Gambhir, Geetika; Kumar, Ramesh; Srivastava, D K

2018-01-01

The importance of germplasm characterization is an important link between the conservation and utilization of plant genetic resources in various breeding programmes. In the present study, genetic variability and relationships among 25 Lactuca sativa L. genotypes were tested using random amplified polymorphic DNA (RAPD) molecular markers. A total of 45 random decamer oligonucleotide primers were examined to generate RAPD profiles, out of these reproducible patterns were obtained with 22 primers. A total of 87 amplicon were obtained, out of which all were polymorphic and 7 were unique bands. The level of polymorphism across genotypes was 100% as revealed by RAPD. Genetic similarity matrix, based on Jaccard's coefficients ranged from 13.7 to 84.10% indicating a wide genetic base. Dendrogram was constructed by unweighted pair group method with arithmetic averages method. RAPD technology could be useful for identification of different accessions as well as assessing the genetic similarity among different genotypes of lettuce. The study reveals the limited genetic base and the needs to diversify using new sources from the germplasm.

European Seminar on Neural Computing

DTIC Science & Technology

1988-08-31

elements can be fabricated on a single chip . Two specific oriented language (for example, SMALLTALK or cellular arrays, namely, the programmable systolic... chip POOL) the basic concepts are: objects are viewed as (Fisher, 1983) and the connection machine (Treleaven, active, they may contain state, and...flow computer the availability of 1. Programmable Systolic Chip . Programmable Sys- input operands triggers the execution of the instruction tolic Chips

Exploring the Links Between Visual Arts and Environmental Education: Experiences of Teachers Participating in an In-Service Training Programme

ERIC Educational Resources Information Center

Savva, Andri; Trimis, Eli; Zachariou, Aravella

2004-01-01

An in-service teachers' training programme was designed aiming to encourage art teachers to learn through theoretical and artistic experiential activities in a specific environmental setting (Lemithou environmental education centre, Cyprus). The programme was based on the use of the environment as an educational resource, and sought to develop…

Specification for Teaching Machines and Programmes (Interchangeability of Programmes). Part 1, Linear Machines and Programmes.

ERIC Educational Resources Information Center

British Standards Institution, London (England).

To promote interchangeability of teaching machines and programs, so that the user is not so limited in his choice of programs, the British Standards Institute has offered a standard. Part I of the standard deals with linear teaching machines and programs that make use of the roll or sheet methods of presentation. Requirements cover: spools,…

An Effective Programme Is Not Enough: A Review of Factors Associated with Poor Attendance and Engagement with Parenting Support Programmes

ERIC Educational Resources Information Center

Whittaker, Karen A.; Cowley, Sarah

2012-01-01

The provision of parenting support is a key feature of wealthier nations' health and social care services. However, attendance and engagement by the neediest parents remains poor. Barriers experienced by parents include personal life factors (beliefs, lifestyles and limited resources) and programme-specific factors (delivery, content and support…

International variation in programmes for assessment of children's neurodevelopment in the community: Understanding disparate approaches to evaluation of motor, social, emotional, behavioural and cognitive function.

PubMed

Wilson, Philip; Wood, Rachael; Lykke, Kirsten; Hauskov Graungaard, Anette; Ertmann, Ruth Kirk; Andersen, Merethe Kirstine; Haavet, Ole Rikard; Lagerløv, Per; Abildsnes, Eirik; Dahli, Mina P; Mäkelä, Marjukka; Varinen, Aleksi; Hietanen, Merja

2018-05-01

Few areas of medicine demonstrate such international divergence as child development screening and surveillance. Many countries have nationally mandated surveillance policies, but the content of programmes and mechanisms for delivery vary enormously. The cost of programmes is substantial but no economic evaluations have been carried out. We have critically examined the history, underlying philosophy, content and delivery of programmes for child development assessment in five countries with comprehensive publicly funded health services (Denmark, Finland, Norway, Scotland and Sweden). The specific focus of this article is on motor, social, emotional, behavioural and global cognitive functioning including language. Variations in developmental surveillance programmes are substantially explained by historical factors and gradual evolution although Scotland has undergone radical changes in approach. No elements of universal developmental assessment programmes meet World Health Organization screening criteria, although some assessments are configured as screening activities. The roles of doctors and nurses vary greatly by country as do the timing, content and likely costs of programmes. Inter-professional communication presents challenges to all the studied health services. No programme has evidence for improved health outcomes or cost effectiveness. Developmental surveillance programmes vary greatly and their structure appears to be driven by historical factors as much as by evidence. Consensus should be reached about which surveillance activities constitute screening, and the predictive validity of these components needs to be established and judged against World Health Organization screening criteria. Costs and consequences of specific programmes should be assessed, and the issue of inter-professional communication about children at remediable developmental risk should be prioritised.

Paper-based Synthetic Gene Networks

PubMed Central

Pardee, Keith; Green, Alexander A.; Ferrante, Tom; Cameron, D. Ewen; DaleyKeyser, Ajay; Yin, Peng; Collins, James J.

2014-01-01

Synthetic gene networks have wide-ranging uses in reprogramming and rewiring organisms. To date, there has not been a way to harness the vast potential of these networks beyond the constraints of a laboratory or in vivo environment. Here, we present an in vitro paper-based platform that provides a new venue for synthetic biologists to operate, and a much-needed medium for the safe deployment of engineered gene circuits beyond the lab. Commercially available cell-free systems are freeze-dried onto paper, enabling the inexpensive, sterile and abiotic distribution of synthetic biology-based technologies for the clinic, global health, industry, research and education. For field use, we create circuits with colorimetric outputs for detection by eye, and fabricate a low-cost, electronic optical interface. We demonstrate this technology with small molecule and RNA actuation of genetic switches, rapid prototyping of complex gene circuits, and programmable in vitro diagnostics, including glucose sensors and strain-specific Ebola virus sensors. PMID:25417167

Paper-based synthetic gene networks.

PubMed

Pardee, Keith; Green, Alexander A; Ferrante, Tom; Cameron, D Ewen; DaleyKeyser, Ajay; Yin, Peng; Collins, James J

2014-11-06

Synthetic gene networks have wide-ranging uses in reprogramming and rewiring organisms. To date, there has not been a way to harness the vast potential of these networks beyond the constraints of a laboratory or in vivo environment. Here, we present an in vitro paper-based platform that provides an alternate, versatile venue for synthetic biologists to operate and a much-needed medium for the safe deployment of engineered gene circuits beyond the lab. Commercially available cell-free systems are freeze dried onto paper, enabling the inexpensive, sterile, and abiotic distribution of synthetic-biology-based technologies for the clinic, global health, industry, research, and education. For field use, we create circuits with colorimetric outputs for detection by eye and fabricate a low-cost, electronic optical interface. We demonstrate this technology with small-molecule and RNA actuation of genetic switches, rapid prototyping of complex gene circuits, and programmable in vitro diagnostics, including glucose sensors and strain-specific Ebola virus sensors.

Matryoshka Project: lessons learned about early intervention in psychosis programme development.

PubMed

Cheng, Chiachen; Dewa, Carolyn S; Goering, Paula

2011-02-01

This part of the Matryoshka project sought to understand the processes with which early intervention in psychosis (EIP) programmes were implemented and developed. The goals were to understand the key influences of programme implementation in the context of rapid EIP service growth and lack of specific provincial guidelines. Sampling was purposive and data were collected with semi-structured interviews. Five Matryoshka Project programmes were successfully contacted. All interviews were conducted by phone, recorded and transcribed verbatim. Emerging themes were analysed iteratively and discussed among authors. Key themes were validated with participants. The new EIP services were significantly influenced by the provincial EIP network, advocacy groups and clinical mentors. EIP programme decision makers often relied on each other for guidance. Although the research evidence assisted programme decision makers to develop an effective EIP model for their region, implementation was often shaped by funding constraints. Programmes adapted their EIP models according to funding and local service characteristics. The lack of specific guidelines may have allowed innovation; programme creativity and diversity is consistent with EIP values. Despite the challenges related to geography and staffing, programmes experienced important successes such as partnerships across sectors, quality clinical service and the ability to engage hard-to-serve clientele. Although important, research evidence played only a secondary role. Relationships among providers and services, coupled with the dedication of front-line staff, were more critical to knowledge exchange than written documents alone. These findings stress the importance of researcher-front-line relationships to the adoption of evidence-informed practice. © 2011 Blackwell Publishing Asia Pty Ltd.

Assessing the role of prevention partnerships in STD prevention: a review of comprehensive STD prevention systems progress reports.

PubMed

Hogben, Matthew; Hood, Julia; Collins, Dayne; McFarlane, Mary

2013-11-01

Systematic analysis of STD programme data contributes to a national portrait of sexually transmitted disease (STD) prevention activities, including research and evaluation specifically designed to optimise programme efficiency and impact. We analysed the narrative of the 2009 annual progress reports of the US Comprehensive STD Prevention Systems cooperative agreement for 58 STD programmes, concentrating on programme characteristics and partnerships. Programmes described 516 unique partnerships with a median of seven organisations cited per STD programme. Non-profit organisations (including service providers) were most frequently cited. Higher gonorrhoea morbidity was associated with reporting more partnerships; budget problems were associated with reporting fewer. Challenges to engaging in partnerships included budget constraints, staff turnover and low interest. Data provide a source of information for judging progress in programme collaboration and for informing a sustained programme-focused research and evaluation agenda.

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign.

PubMed

Fendler, W; Borowiec, M; Baranowska-Jazwiecka, A; Szadkowska, A; Skala-Zamorowska, E; Deja, G; Jarosz-Chobot, P; Techmanska, I; Bautembach-Minkowska, J; Mysliwiec, M; Zmyslowska, A; Pietrzak, I; Malecki, M T; Mlynarski, W

2012-10-01

The aim of this study was to study dynamic changes in the prevalence of different types of diabetes in paediatric populations in Poland, with a specific focus on monogenic diabetes (MD). Using epidemiologic data (PolPeDiab Collaboration) and nationwide genetic test results (TEAM Programme), we compared the prevalence of type 1, type 2 and cystic fibrosis-related diabetes (CFRD) and MD. Genetically confirmed MD included MODY, neonatal diabetes and Wolfram and Alström syndromes. The study covered all children aged 0-18 years treated for diabetes between 2005 and 2011 in three regions, inhabited by 23.7% (1,989,988) of Polish children, with a low prevalence of childhood obesity (<5%). The prevalence of type 1 diabetes showed a continuous increase, from 96 to 138/100,000 children. The prevalence of type 2 diabetes and CFRD also increased, from 0.3 to 1.01/100,000 children and from 0.1 to 0.95/100,000 children, respectively. The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. The percentage of positive test results decreased with the number of referrals, suggesting that children with the highest probability of MD were referred initially, followed by those with a less clear-cut phenotype. The prevalence of neonatal diabetes equalled 1 in 300,000 children. The prevalence of MD in a paediatric population with a low prevalence of obesity remains stable and is nearly fivefold higher than that of type 2 diabetes and CFRD, justifying a need for increased access to genetic diagnostic procedures in diabetic children.

Caprine prion gene polymorphisms are associated with decreased incidence of classical scrapie in goat herds in the United Kingdom

PubMed Central

2011-01-01

The application of genetic breeding programmes to eradicate transmissible spongiform encephalopathies in goats is an important aim for reasons of animal welfare as well as human food safety and food security. Based on the positive impact of Prnp genetics on sheep scrapie in Europe in the past decade, we have established caprine Prnp gene variation in more than 1100 goats from the United Kingdom and studied the association of Prnp alleles with disease phenotypes in 150 scrapie-positive goats. This investigation confirms the association of the Met142 encoding Prnp allele with increased resistance to preclinical and clinical scrapie. It reveals a novel association of the Ser127 encoding allele with a reduced probability to develop clinical signs of scrapie in goats that are already positive for the accumulation of disease-specific prion protein in brain or periphery. A United Kingdom survey of Prnp genotypes in eight common breeds revealed eleven alleles in over thirty genotypes. The Met142 encoding allele had a high overall mean allele frequency of 22.6%, whereas the Ser127 encoding allele frequency was considerably lower with 6.4%. In contrast, a well known resistance associated allele encoding Lys222 was found to be rare (0.9%) in this survey. The analysis of Prnp genotypes in Mexican Criollas goats revealed nine alleles, including a novel Phe to Leu substitution in codon 201, confirming that high genetic variability of Prnp can be found in scrapie-free populations. Our study implies that it should be feasible to lower scrapie prevalence in goat herds in the United Kingdom by genetic selection. PMID:22040234

The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda

PubMed Central

2013-01-01

Background The genetics of development in the nematode Caenorhabditis elegans has been described in exquisite detail. The phylum Nematoda has two classes: Chromadorea (which includes C. elegans) and the Enoplea. While the development of many chromadorean species resembles closely that of C. elegans, enoplean nematodes show markedly different patterns of early cell division and cell fate assignment. Embryogenesis of the enoplean Romanomermis culicivorax has been studied in detail, but the genetic circuitry underpinning development in this species has not been explored. Results We generated a draft genome for R. culicivorax and compared its gene content with that of C. elegans, a second enoplean, the vertebrate parasite Trichinella spiralis, and a representative arthropod, Tribolium castaneum. This comparison revealed that R. culicivorax has retained components of the conserved ecdysozoan developmental gene toolkit lost in C. elegans. T. spiralis has independently lost even more of this toolkit than has C. elegans. However, the C. elegans toolkit is not simply depauperate, as many novel genes essential for embryogenesis in C. elegans are not found in, or have only extremely divergent homologues in R. culicivorax and T. spiralis. Our data imply fundamental differences in the genetic programmes not only for early cell specification but also others such as vulva formation and sex determination. Conclusions Despite the apparent morphological conservatism, major differences in the molecular logic of development have evolved within the phylum Nematoda. R. culicivorax serves as a tractable system to contrast C. elegans and understand how divergent genomic and thus regulatory backgrounds nevertheless generate a conserved phenotype. The R. culicivorax draft genome will promote use of this species as a research model. PMID:24373391

The genomic architecture of mastitis resistance in dairy sheep.

PubMed

Banos, G; Bramis, G; Bush, S J; Clark, E L; McCulloch, M E B; Smith, J; Schulze, G; Arsenos, G; Hume, D A; Psifidi, A

2017-08-16

Mastitis is the most prevalent disease in dairy sheep with major economic, hygienic and welfare implications. The disease persists in all dairy sheep production systems despite the implementation of improved management practises. Selective breeding for enhanced mastitis resistance may provide the means to further control the disease. In the present study, we investigated the genetic architecture of four mastitis traits in dairy sheep. Individual animal records for clinical mastitis occurrence and three mastitis indicator traits (milk somatic cell count, total viable bacterial count in milk and the California mastitis test) were collected monthly throughout lactation for 609 ewes of the Greek Chios breed. All animals were genotyped with a custom-made 960-single nucleotide polymorphism (SNP) DNA array based on markers located in quantitative trait loci (QTL) regions for mastitis resistance previously detected in three other distinct dairy sheep populations. Heritable variation and strong positive genetic correlations were estimated for clinical mastitis occurrence and the three mastitis indicator traits. SNP markers significantly associated with these mastitis traits were confirmed on chromosomes 2, 3, 5, 16 and 19. We identified pathways, molecular interaction networks and functional gene clusters for mastitis resistance. Candidate genes within the detected regions were identified based upon analysis of an ovine transcriptional atlas and transcriptome data derived from milk somatic cells. Relevant candidate genes implicated in innate immunity included SOCS2, CTLA4, C6, C7, C9, PTGER4, DAB2, CARD6, OSMR, PLXNC1, IDH1, ICOS, FYB, and LYFR. The results confirmed the presence of animal genetic variability in mastitis resistance and identified genomic regions associated with specific mastitis traits in the Chios sheep. The conserved genetic architecture of mastitis resistance between distinct dairy sheep breeds suggests that across-breed selection programmes would be feasible.

Past challenges faced: an overview of current educational activities of IUTOX.

PubMed

Dybing, Erik; MacGregor, Judith; Malmfors, Torbjörn; Chipman, J Kevin; Wright, Paul

2005-09-01

Over the past decade, educational programmes have been the main focus of the activities of the International Union of Toxicology (IUTOX). The IUTOX educational programmes are dynamic and have been growing in scope and frequency each year. It is envisaged that this growth will continue with guidance from our member societies and the continuing support of our sponsors. Presently, IUTOX is engaged in the following educational programmes: (1) International congresses that provide the opportunity for direct communication of current toxicological information. Fellowships are sponsored to facilitate attendance at these congresses for toxicologists in need. (2) Workshops that permit interaction on a more localised level of topics of more regional interest. Workshops have served to help stimulate formation of toxicology societies by bringing together sufficient scientists to facilitate these discussions. (3) Continuing educational (CE) programmes at member society meetings. Topics are prioritized based on input received from the local societies. Programmes often are those from CE courses given at meetings, such as conferences of the US Society of Toxicology (US SOT) and EUROTOX from the previous year. (4) Biennial Risk Assessment Summer School (RASS), an intensive week-long interaction between senior toxicologists who serve as faculty with attendees providing individual training. (5) Dissemination of donated printed toxicological books from publishers and syllabi from continuing education courses to regional locations. (6) Web-based interactive training programmes in regions where formal toxicological educational programmes are limited or lacking. (7) Preparation and distribution of monographs on selected topics of very current interest. Monographs on environmental oestrogens and genetically-modified foods have been published. The recent activities in each of these programmes are reviewed in this paper.

Estimates of effective population size and inbreeding in South African indigenous chicken populations: implications for the conservation of unique genetic resources.

PubMed

Mtileni, Bohani; Dzama, Kennedy; Nephawe, Khathutshelo; Rhode, Clint

2016-06-01

Conservation of locally adapted indigenous livestock breeds has become an important objective in sustainable animal breeding, as these breeds represent a unique genetic resource. Therefore, the Agricultural Research Council of South Africa initiated a conservation programme for four South African indigenous chicken breeds. The evaluation and monitoring of the genetic constitution of these conservation flocks is important for proper management of the conservation programme. Using molecular genetic analyses, the effective population sizes and relatedness of these conservation flocks were compared to village (field) chicken populations from which they were derived. Genetic diversity within and between these populations are further discussed within the context of population size. The conservation flocks for the respective breeds had relatively small effective population sizes (point estimate range 38.6-78.6) in comparison to the field populations (point estimate range 118.9-580.0). Furthermore, evidence supports a transient heterozygous excess, generally associated with the occurrence of a recent population bottleneck. Genetic diversity, as measured by the number of alleles, heterozygosity and information index, was also significantly reduced in the conservation flocks. The average relatedness amongst the conservation flocks was high, whilst it remained low for the field populations. There was also significant evidence for population differentiation between field and conservation populations. F st estimates for conservation flocks were moderate to high with a maximum reached between VD_C and VD_F (0.285). However, F st estimates for field population were excessively low between the NN_C and EC_F (0.007) and between EC_F and OV_F (0.009). The significant population differentiation of the conservation flocks from their geographically correlated field populations of origin is further supported by the analysis of molecular variance (AMOVA), with 10.51 % of genetic diversity ascribed to population differences within groups (F SC = 0.106). The results suggest that significant genetic erosion has occurred within the conservation flocks due to inbreeding, pronounced effects of random drift and selection. It might be necessary to introduce new breeding individuals from the respective field populations in order to increase the effective population sizes of the conservation flocks and counter the effects of genetic erosion.

Enhanced gene disruption by programmable nucleases delivered by a minicircle vector.

PubMed

Dad, A-B K; Ramakrishna, S; Song, M; Kim, H

2014-11-01

Targeted genetic modification using programmable nucleases such as zinc finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs) is of great value in biomedical research, medicine and biotechnology. Minicircle vectors, which lack extraneous bacterial sequences, have several advantages over conventional plasmids for transgene delivery. Here, for the first time, we delivered programmable nucleases into human cells using transient transfection of a minicircle vector and compared the results with those obtained using a conventional plasmid. Surrogate reporter assays and T7 endonuclease analyses revealed that cells in the minicircle vector group displayed significantly higher mutation frequencies at the target sites than those in the conventional plasmid group. Quantitative PCR and reverse transcription-PCR showed higher vector copy number and programmable nuclease transcript levels, respectively, in 293T cells after minicircle versus conventional plasmid vector transfection. In addition, tryphan blue staining and flow cytometry after annexin V and propidium iodide staining showed that cell viability was also significantly higher in the minicircle group than in the conventional plasmid group. Taken together, our results show that gene disruption using minicircle vector-mediated delivery of ZFNs and TALENs is a more efficient, safer and less toxic method than using a conventional plasmid, and indicate that the minicircle vector could serve as an advanced delivery method for programmable nucleases.

Towards programmable plant genetic circuits.

PubMed

Medford, June I; Prasad, Ashok

2016-07-01

Synthetic biology enables the construction of genetic circuits with predictable gene functions in plants. Detailed quantitative descriptions of the transfer function or input-output function for genetic parts (promoters, 5' and 3' untranslated regions, etc.) are collected. These data are then used in computational simulations to determine their robustness and desired properties, thereby enabling the best components to be selected for experimental testing in plants. In addition, the process forms an iterative workflow which allows vast improvement to validated elements with sub-optimal function. These processes enable computational functions such as digital logic in living plants and follow the pathway of technological advances which took us from vacuum tubes to cell phones. © 2016 The Authors The Plant Journal © 2016 John Wiley & Sons Ltd.

CLOCK gene is implicated in weight reduction in obese patients participating in a dietary programme based on the Mediterranean diet

USDA-ARS?s Scientific Manuscript database

Introduction: The success of obesity therapy is dependent on the genetic background of the patient. Circadian Locomotor Output Cycles Kaput (CLOCK), one of the transcription factors from the positive limb of the molecular clock, is involved in metabolic alterations. Objective: To investigate whethe...

New Approaches in International Guidelines for Genetic Toxicology Assays: Latest Updates on OECD Guidelines

EPA Science Inventory

In March 2010, the 22nd meeting of the Working Group of National Coordinators of the OECD Test Guidelines Programme (WNT) approved a project for updating the Test Guidelines on genotoxicity, with Canada, the Netherlands, France and the USA identified as lead countries for this wo...

Tumor Immunotherapy by Gene-circuit Recruited Immunomodulatory Systems (TIGRIS) for Prostate Cancer

DTIC Science & Technology

2017-09-01

Fu, X., Huang, W., and Cai, Z. (2014). Syn- thesizing AND gate genetic circuits based on CRISPR -Cas9 for identification of bladder cancer cells. Nat...and Lu, T.K. (2014). Multi- plexed and programmable regulation of gene networks with an integrated RNA and CRISPR /Cas toolkit in human cells. Mol

Synthesizing Neurophysiology, Genetics, Behaviour and Learning to Produce Whole-Insect Programmable Sensors to Detect Volatile Chemicals.

USDA-ARS?s Scientific Manuscript database

Most insects have evolved highly sensitive olfactory systems which respond to odors in their environment. The extremely sensitive nature of the insect olfaction system is enhanced by the ability to learn to associate external stimuli with resources, such as food, hosts, and mates. There have been a ...

Increasing our knowledge of male mosquito biology in relation to genetic control programmes

USDA-ARS?s Scientific Manuscript database

The enormous burden placed on populations worldwide by mosquito-borne diseases, most notably malaria and dengue, is currently being tackled by the use of insecticides sprayed in residences or applied to bednets, and in the case of dengue vectors through reduction of larval breeding sites. However, t...

Comparative costs of programmes to conserve chicken genetic variation based on maintaining living populations or storing cryopreserved material

USDA-ARS?s Scientific Manuscript database

Consolidations in the poultry breeding industry and academic poultry departments have resulted in the loss of avian populations. The cost of maintaining living populations is high, but ex-situ alternatives are now available. Semen can be cryopreserved and lines can be recovered by backcrossing, or...

The epidemiology of neonatal tumours. Report of an international working group.

PubMed

Moore, S W; Satgé, D; Sasco, A J; Zimmermann, A; Plaschkes, J

2003-09-01

Neonatal tumours occur every 12,500-27,500 live births and comprise 2% of childhood malignancies, but there is little clarity as to their real prevalence, sites of origin and pathological nature as reported series vary. As an entity, neonatal tumours provide a unique window of opportunity to study tumours in which minimal environmental interference has occurred. The majority of tumours present with a mass at birth (e.g., teratomas, neuroblastomas, mesoblastic nephroma, fibromatosis), which are not infrequently identified on antenatal ultrasound. Histologically, teratoma and neuroblastoma remain the two main tumour types encountered with soft tissue sarcoma, renal tumours, CNS tumours and leukaemia being the next most common tumour types identified. Malignant tumours are uncommon in the neonatal period per se and benign tumours may have malignant potential. A particular problem exists in clinical classification, as histological features of malignancy do not always correlate with clinical behaviour. Benign tumours may also be life threatening because of their size and location. Other tumours may demonstrate local invasiveness, but no metastatic potential, and tumours that are clearly malignant may demonstrate unpredictable or uncertain behaviour. Screening programmes have brought more tumours to light, but do not appear to affect the overall prognosis. They may provide clues to the stage at which tumours develop in foetu. The aetiology of cancer in children is multifactorial and includes both genetic and environmental factors. The association between congenital abnormalities and tumours is well established (15% of neonatal tumours). Genetic defects are highly likely in neonatal tumours and include those with a high risk of malignancy (e.g., retinoblastoma), but also genetically determined syndromes with an increased risk of malignancy and complex genetic rearrangements. Tumours are mostly genetically related at a cellular level and factors influencing cellular maturation or apoptosis within the developing foetus may continue to operate in the neonatal period. Cytogenetics of neonatal neoplasms appear to differ from neoplasms in older children, thus possibly explaining some of the observed differences in clinical behaviour. Certain constitutional chromosome anomalies, however, specifically favour tumours occurring in the foetal and neonatal period. In support of this hypothesis, certain cytogenetic anomalies appear to be specific to neonates, and a number of examples are explored. Other environmental associations include ionizing radiation, drugs taken during pregnancy, infections, tumours in the mother and environmental exposure.

Evaluation of the Non-Formal Forest Education Sector in the State of North Rhine-Westphalia, Germany: Organisations, Programmes and Framework Conditions

ERIC Educational Resources Information Center

Grimm, Anne; Mrosek, Thorsten; Martinsohn, Anna; Schulte, Andreas

2011-01-01

Although a large number of different organisations offer various forest education programmes within Germany, specific information (i.e., sectoral and programme content and provision at a state level) is lacking. This study used a survey of all 61 forest education organisations (43 respondents) in the state of North Rhine-Westphalia, Germany, to…

Not Seeing the Wood for the Trees: Developing a Feedback Analysis Tool to Explore Feed Forward in Modularised Programmes

ERIC Educational Resources Information Center

Hughes, Gwyneth; Smith, Holly; Creese, Brian

2015-01-01

This paper considers feedback in the context of modularised programmes in higher education in the UK. It is argued that the self-contained nature of modular assessment may limit feedback dialogue between staff and students to assignment-specific issues, and may impede student progress towards holistic programme-level aims and outcomes. A feedback…

Design of the Curriculum for a Second-Cycle Course in Civil Engineering in the Context of the Bologna Framework

ERIC Educational Resources Information Center

Gavin, K. G.

2010-01-01

This paper describes the design of the curriculum for a Master of Engineering programme in civil engineering at University College Dublin. The revised programme was established to meet the requirements of the Bologna process and this paper specifically considers the design of a new, second-cycle master's component of the programme. In addition to…

The Role of the Programmable Calculator in the Medical Environment

PubMed Central

Winner, P.; Moller, J.

1981-01-01

A general approach to the establishment of programmable calculators as tools in health care is presented. We will discuss capabilities, applicability, disadvantages and future trends. Also the specific applicability to Creatinine Clearance programs is given

[Effectiveness of a training programme in reducing occupational injuries: the Turin-Novara high-speed railway line experience].

PubMed

Bena, Antonella; Berchialla, Paola; Coffano, Elena; Debernardi, Marialuisa; Icardi, L; Dettoni, Luisa

2009-01-01

There is little evidence in the literature to suggest that safety training is effective in reducing injuries at the workplace. This study aimed at assessing the impact of a safety training programme on injury rates during construction work on the Turin-Novara high-speed railway line (2002-2006). We adopted a before-after study design. Since workers were enrolled and trained at different times, pre- and post-training periods were calculated individually for each worker At the end of the training programme, the incidence of occupational injuries had fallen by 16% in the case of basic training and 25% for specific training. In the construction workers group (63.5% of trained workers) the reductions were 21% for basic training and 27% for specific training. All variations were statistically significant. Implementation of the training programme described led to a reduction in injury rates.

Health surveillance for former asbestos exposed worker: a specific programme developed in an Italian region

PubMed Central

Battisti, Francesca; Cristaudo, Alfonso; Sartorelli, Pietro; Calà, Piergiuseppe

2018-01-01

Asbestos-related diseases usually have a long latency since first exposure and this legitimates a health surveillance programme addressed to asbestos workers after the cessation of their occupational exposure. After a brief history of health surveillance initiatives performed in Italy as well as in other countries, we describe a regional programme for former asbestos-exposed workers, focusing on organizational features. A regional group of experts defined its operational and economical aspects. The Regional Council supported the whole programme, making it free of charge for all subjects who fulfil the predefined enrolment criteria (being resident in the region, being younger than 80 years old with cessation of occupational asbestos exposure within the last 30 years). The programme activities are classified in two levels: a first level for a basic health evaluation and a second level for in-depth analyses. In order to guarantee an homogeneous delivery in the whole region, the programme has to be performed by public health services with a quality control of activities. The involvement of specific public health services and the cooperation of social stakeholders are expected to play a major role in overcoming still open critical issues, such as the lack of programme existence awareness and adhesion, the correct stratification of subjects for the follow-up, and the real homogeneous delivery of the health surveillance in whole region. PMID:29507808

An autonomous molecular computer for logical control of gene expression

PubMed Central

Benenson, Yaakov; Gil, Binyamin; Ben-Dor, Uri; Adar, Rivka; Shapiro, Ehud

2013-01-01

Early biomolecular computer research focused on laboratory-scale, human-operated computers for complex computational problems1–7. Recently, simple molecular-scale autonomous programmable computers were demonstrated8–15 allowing both input and output information to be in molecular form. Such computers, using biological molecules as input data and biologically active molecules as outputs, could produce a system for ‘logical’ control of biological processes. Here we describe an autonomous biomolecular computer that, at least in vitro, logically analyses the levels of messenger RNA species, and in response produces a molecule capable of affecting levels of gene expression. The computer operates at a concentration of close to a trillion computers per microlitre and consists of three programmable modules: a computation module, that is, a stochastic molecular automaton12–17; an input module, by which specific mRNA levels or point mutations regulate software molecule concentrations, and hence automaton transition probabilities; and an output module, capable of controlled release of a short single-stranded DNA molecule. This approach might be applied in vivo to biochemical sensing, genetic engineering and even medical diagnosis and treatment. As a proof of principle we programmed the computer to identify and analyse mRNA of disease-related genes18–22 associated with models of small-cell lung cancer and prostate cancer, and to produce a single-stranded DNA molecule modelled after an anticancer drug. PMID:15116117

'I can't see any reason for stopping doing anything, but I might have to do it differently'--restoring hope to patients with persistent non-specific low back pain--a qualitative study.

PubMed

Toye, Francine; Barker, Karen

2012-01-01

To explore the differences in narrative between patients with persistent non-specific low back pain (PLBP) who benefited from a pain management programme, and those who did not benefit. We conducted interviews with 20 patients attending a pain management programme; prior to attending the programme, immediately following the programme and at one year. Our analysis focused on a theoretical sample of patients who either described dramatic life improvements at one year, and who described themselves as much worse. We used the methods of grounded theory. We found that finding hope was central to good outcome. Patients restored hope by making certain changes; (a) deconstructing specific fears, (b) constructing an acceptable explanatory model (c) reconstructing self identity by making acceptable changes. Those who had not restored hope retained fears of loss of self, remained committed to the biomedical model and were unable to make acceptable changes. Our findings may help to operationalise the restoration of hope in patients with PLBP. Firstly, health care professionals need to identify and resolve any specific fears of movement. Secondly, patients need an acceptable explanatory model that fits their experience and personal narrative. Finally our study confirms the centrality of self concept to recovery.

WebStruct and VisualStruct: Web interfaces and visualization for Structure software implemented in a cluster environment.

PubMed

Jayashree, B; Rajgopal, S; Hoisington, D; Prasanth, V P; Chandra, S

2008-09-24

Structure, is a widely used software tool to investigate population genetic structure with multi-locus genotyping data. The software uses an iterative algorithm to group individuals into "K" clusters, representing possibly K genetically distinct subpopulations. The serial implementation of this programme is processor-intensive even with small datasets. We describe an implementation of the program within a parallel framework. Speedup was achieved by running different replicates and values of K on each node of the cluster. A web-based user-oriented GUI has been implemented in PHP, through which the user can specify input parameters for the programme. The number of processors to be used can be specified in the background command. A web-based visualization tool "Visualstruct", written in PHP (HTML and Java script embedded), allows for the graphical display of population clusters output from Structure, where each individual may be visualized as a line segment with K colors defining its possible genomic composition with respect to the K genetic sub-populations. The advantage over available programs is in the increased number of individuals that can be visualized. The analyses of real datasets indicate a speedup of up to four, when comparing the speed of execution on clusters of eight processors with the speed of execution on one desktop. The software package is freely available to interested users upon request.

DNA barcoding applied to ex situ tropical amphibian conservation programme reveals cryptic diversity in captive populations.

PubMed

Crawford, Andrew J; Cruz, Catalina; Griffith, Edgardo; Ross, Heidi; Ibáñez, Roberto; Lips, Karen R; Driskell, Amy C; Bermingham, Eldredge; Crump, Paul

2013-11-01

Amphibians constitute a diverse yet still incompletely characterized clade of vertebrates, in which new species are still being discovered and described at a high rate. Amphibians are also increasingly endangered, due in part to disease-driven threats of extinctions. As an emergency response, conservationists have begun ex situ assurance colonies for priority species. The abundance of cryptic amphibian diversity, however, may cause problems for ex situ conservation. In this study we used a DNA barcoding approach to survey mitochondrial DNA (mtDNA) variation in captive populations of 10 species of Neotropical amphibians maintained in an ex situ assurance programme at El Valle Amphibian Conservation Center (EVACC) in the Republic of Panama. We combined these mtDNA sequences with genetic data from presumably conspecific wild populations sampled from across Panama, and applied genetic distance-based and character-based analyses to identify cryptic lineages. We found that three of ten species harboured substantial cryptic genetic diversity within EVACC, and an additional three species harboured cryptic diversity among wild populations, but not in captivity. Ex situ conservation efforts focused on amphibians are therefore vulnerable to an incomplete taxonomy leading to misidentification among cryptic species. DNA barcoding may therefore provide a simple, standardized protocol to identify cryptic diversity readily applicable to any amphibian community. © 2012 John Wiley & Sons Ltd.

Recent advances in occupational dermatitis.

PubMed

Holness, Dorothy Linn

2013-04-01

This review examined recent advances in occupational contact dermatitis (OCD). Both genetic and environmental factors contribute to OCD. There is continuing growth in our understanding of the genetic factors, particularly related to filaggrin mutations. In spite of increased understanding of irritant exposures, the prevalence of hand eczema in workers with wet work exposures remains high at approximately 20%. Patch test database surveillance systems have documented reductions in the occurrence of sensitivity to some allergens such as chromium wherein regulatory efforts have reduced workplace exposures. These surveillance data have also documented increases in sensitivity to several allergens in particular trades, serving as an effective system to identify new exposure situations or new allergens. The impact of OCD on quality of life and mental health conditions, employment and financial aspects is increasingly documented. Progress in understanding the underreporting of OCD and the underlying reasons continues. Several groups have developed robust multidisciplinary secondary and tertiary prevention programmes and the evaluations demonstrate promise. Although several recent systematic reviews have documented the evidence for various prevention strategies, there is increasing understanding of the gaps in prevention practices in actual workplaces. Understanding of the underlying genetic and environmental agents contributing to OCD is increasing. In spite of progress with reducing exposure to some allergens, the prevalence of OCD continues to be high, particularly related to wet work. New prevention programmes are being developed and evaluated and hold promise for improved outcomes.

Do preschools differ in promoting children's physical activity? An instrument for the assessment of preschool physical activity programmes.

PubMed

Sterdt, Elena; Pape, Natalie; Kramer, Silke; Urban, Michael; Werning, Rolf; Walter, Ulla

2013-09-03

Preschools offer high potential for preventive interventions. However, little is known about the structure of preschool programmes to promote physical activity (PA) in preschoolers although almost all children aged three to six years spend one third of the day at preschool. The aim of this study was to determine whether and to what extent preschools implement systematic PA promotion measures using an instrument specifically developed to assess and systematize preschool PA programmes. In the cross-sectional study a baseline survey of preschool education policies was conducted to identify and assess the type and extent of PA programmes and opportunities in preschools in the State of Lower Saxony, Germany. An assessment instrument was developed to identify preschools with systematic PA programmes (type 1) and those without PA programmes (type 2) based on the following quality criteria: A) written PA policy, B) structured weekly PA offerings for all children; C) at least one qualified physical education teacher; D) PA-friendly indoor and outdoor facilities (exercise room, situational PA opportunities, outdoor areas, play equipment etc.), and E) structured PA promotion in place for at least two years. A third type of preschool that promotes PA in children to some extent (i.e., that meets the criteria partially but not completely) was classified as "preschools with limited PA programmes". 2415 preschools participated in the survey (response rate: 59%). The results show that 26% (n = 554) have a systematic PA programme while 3% (n = 64) have no PA programme. Most (71%, n = 1514) were classified as limited PA programme preschools. All three types of preschools differed significantly (p = .000) from each other in terms of size (small vs. large). Most of the preschools without PA programmes are small half-day preschools. The study investigated an assessment-instrument providing extensive insight into the nature, extent and routine practical implementation of PA promotion in preschools. The criteria used to evaluate preschool PA programmes are well-suited to identify the different preschool PA programme types and target areas in the field of PA promotion in which specific measures (teacher education, structured PA offerings, etc.) can be implemented in future interventions.

Deciphering the Genetic Programme Triggering Timely and Spatially-Regulated Chitin Deposition

PubMed Central

Rotstein, Bárbara; Casali, Andreu; Llimargas, Marta

2015-01-01

Organ and tissue formation requires a finely tuned temporal and spatial regulation of differentiation programmes. This is necessary to balance sufficient plasticity to undergo morphogenesis with the acquisition of the mature traits needed for physiological activity. Here we addressed this issue by analysing the deposition of the chitinous extracellular matrix of Drosophila, an essential element of the cuticle (skin) and respiratory system (tracheae) in this insect. Chitin deposition requires the activity of the chitin synthase Krotzkopf verkehrt (Kkv). Our data demonstrate that this process equally requires the activity of two other genes, namely expansion (exp) and rebuf (reb). We found that Exp and Reb have interchangeable functions, and in their absence no chitin is produced, in spite of the presence of Kkv. Conversely, when Kkv and Exp/Reb are co-expressed in the ectoderm, they promote chitin deposition, even in tissues normally devoid of this polysaccharide. Therefore, our results indicate that both functions are not only required but also sufficient to trigger chitin accumulation. We show that this mechanism is highly regulated in time and space, ensuring chitin accumulation in the correct tissues and developmental stages. Accordingly, we observed that unregulated chitin deposition disturbs morphogenesis, thus highlighting the need for tight regulation of this process. In summary, here we identify the genetic programme that triggers the timely and spatially regulated deposition of chitin and thus provide new insights into the extracellular matrix maturation required for physiological activity. PMID:25617778

Development of a balance, safe mobility and falls management programme for people with multiple sclerosis.

PubMed

Gunn, Hilary; Endacott, Ruth; Haas, Bernhard; Marsden, Jonathan; Freeman, Jennifer

2017-08-07

To utilise stakeholder input to inform the structure, format and approach of a multiple sclerosis (MS) balance, safe mobility and falls management programme. Using a three-round nominal group technique, participants individually rated their agreement with 20 trigger statements, followed by a facilitated group discussion and re-rating. Three mixed groups included service users (n = 15) and providers (n = 19). Quantitative analysis determined agreement, whilst qualitative responses were analysed thematically. Median scores for each of the 20 trigger statements did not change significantly over sequential rounds, however, deviations around the medians indicated more agreement amongst participants over time. Key recommendations were: Aims and approach: The programme should be tailored to the needs of people with MS. Falls and participation-based outcomes are equally important. Structure and format: The programme should balance expected burden and anticipated benefit, moving away from models requiring weekly attendance and promoting and supporting self-efficacy. Optimising engagement: Support to maintain engagement and intensity of practice over the long term is essential. Sustainability: Adequate funding is necessary. Staff should have MS specific knowledge and experience. Participants collaboratively identified critical components of a MS balance, safe mobility and falls management programme. They also highlighted the importance of a collaborative, user-centred, MS-specific approach. Implications for Rehabilitation People with multiple sclerosis need condition-specific interventions focussed on maximising balance and safe mobility and reducing falls. Programme design should support self-efficacy and flexible engagement. Adequate support and funding are seen as essential by both service users and providers.

Engineering genetic circuit interactions within and between synthetic minimal cells

NASA Astrophysics Data System (ADS)

Adamala, Katarzyna P.; Martin-Alarcon, Daniel A.; Guthrie-Honea, Katriona R.; Boyden, Edward S.

2017-05-01

Genetic circuits and reaction cascades are of great importance for synthetic biology, biochemistry and bioengineering. An open question is how to maximize the modularity of their design to enable the integration of different reaction networks and to optimize their scalability and flexibility. One option is encapsulation within liposomes, which enables chemical reactions to proceed in well-isolated environments. Here we adapt liposome encapsulation to enable the modular, controlled compartmentalization of genetic circuits and cascades. We demonstrate that it is possible to engineer genetic circuit-containing synthetic minimal cells (synells) to contain multiple-part genetic cascades, and that these cascades can be controlled by external signals as well as inter-liposomal communication without crosstalk. We also show that liposomes that contain different cascades can be fused in a controlled way so that the products of incompatible reactions can be brought together. Synells thus enable a more modular creation of synthetic biology cascades, an essential step towards their ultimate programmability.

Genetic diversity based on 28S rDNA sequences among populations of Culex quinquefasciatus collected at different locations in Tamil Nadu, India.

PubMed

Sakthivelkumar, S; Ramaraj, P; Veeramani, V; Janarthanan, S

2015-09-01

The basis of the present study was to distinguish the existence of any genetic variability among populations of Culex quinquefasciatus which would be a valuable tool in the management of mosquito control programmes. In the present study, population of Cx. quinquefasciatus collected at different locations in Tamil Nadu were analyzed for their genetic variation based on 28S rDNA D2 region nucleotide sequences. A high degree of genetic polymorphism was detected in the sequences of D2 region of 28S rDNA on the predicted secondary structures in spite of high nucleotide sequence similarity. The findings based on secondary structure using rDNA sequences suggested the existence of a complex genotypic diversity of Cx. quinquefasciatus population collected at different locations of Tamil Nadu, India. This complexity in genetic diversity in a single mosquito population collected at different locations is considered an important issue towards their influence and nature of vector potential of these mosquitoes.

Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma.

PubMed

Lalloo, Fiona

2016-01-01

About 30% of phaeochromocytomas or paragangliomas are genetic. Whilst some individuals will have clinical features or a family history of inherited cancer syndrome such as neurofibromatosis type 1 (NF1) or multiple endocrine neoplasia 2 (MEN2), the majority will present as an isolated case. To date, 14 genes have been described in which pathogenic mutations have been demonstrated to cause paraganglioma or phaeochromocytoma . Many cases with a pathogenic mutation may be at risk of developing further tumours. Therefore, identification of genetic cases is important in the long-term management of these individuals, ensuring that they are entered into a surveillance programme. Mutation testing also facilitates cascade testing within the family, allowing identification of other at-risk individuals. Many algorithms have been described to facilitate cost-effective genetic testing sequentially of these genes, with phenotypically driven pathways. New genetic technologies including next-generation sequencing and whole-exome sequencing will allow much quicker, cheaper and extensive testing of individuals in whom a genetic aetiology is suspected.

Current Progress of Genetically Engineered Pig Models for Biomedical Research

PubMed Central

Gün, Gökhan

2014-01-01

Abstract The first transgenic pigs were generated for agricultural purposes about three decades ago. Since then, the micromanipulation techniques of pig oocytes and embryos expanded from pronuclear injection of foreign DNA to somatic cell nuclear transfer, intracytoplasmic sperm injection-mediated gene transfer, lentiviral transduction, and cytoplasmic injection. Mechanistically, the passive transgenesis approach based on random integration of foreign DNA was developed to active genetic engineering techniques based on the transient activity of ectopic enzymes, such as transposases, recombinases, and programmable nucleases. Whole-genome sequencing and annotation of advanced genome maps of the pig complemented these developments. The full implementation of these tools promises to immensely increase the efficiency and, in parallel, to reduce the costs for the generation of genetically engineered pigs. Today, the major application of genetically engineered pigs is found in the field of biomedical disease modeling. It is anticipated that genetically engineered pigs will increasingly be used in biomedical research, since this model shows several similarities to humans with regard to physiology, metabolism, genome organization, pathology, and aging. PMID:25469311

Genealogical analyses of rabies virus strains from Brazil based on N gene alleles.

PubMed Central

Heinemann, M. B.; Fernandes-Matioli, F. M. C.; Cortez, A.; Soares, R. M.; Sakamoto, S. M.; Bernardi, F.; Ito, F. H.; Madeira, A. M. B. N.; Richtzenhain, L. J.

2002-01-01

Thirty rabies virus isolates from cows and vampire bats from different regions of São Paulo State, Southeastern Brazil and three rabies vaccines were studied genetically. The analysis was based on direct sequencing of PCR-amplified products of 600 nucleotides coding for the amino terminus of nucleoprotein gene. The sequences were checked to verify their genealogical and evolutionary relationships and possible implication for health programmes. Statistical data indicated that there were no significant genetic differences between samples isolated from distinct hosts, from different geographical regions and between samples collected in the last two decades. According to the HKA test, the variability observed in the sequences is probably due to genetic drift. Since changes in genetic material may produce modifications in the protein responsible for immunogenicity of virus, which may eventually cause vaccine failure in herds, we suggest that continuous efforts in monitoring genetic diversity in rabies virus field strains, in relation to vaccine strains, must be conducted. PMID:12113496

Developing a customised approach for strengthening tuberculosis laboratory quality management systems toward accreditation

PubMed Central

Trollip, Andre; Erni, Donatelle; Kao, Kekeletso

2017-01-01

Background Quality-assured tuberculosis laboratory services are critical to achieve global and national goals for tuberculosis prevention and care. Implementation of a quality management system (QMS) in laboratories leads to improved quality of diagnostic tests and better patient care. The Strengthening Laboratory Management Toward Accreditation (SLMTA) programme has led to measurable improvements in the QMS of clinical laboratories. However, progress in tuberculosis laboratories has been slower, which may be attributed to the need for a structured tuberculosis-specific approach to implementing QMS. We describe the development and early implementation of the Strengthening Tuberculosis Laboratory Management Toward Accreditation (TB SLMTA) programme. Development The TB SLMTA curriculum was developed by customizing the SLMTA curriculum to include specific tools, job aids and supplementary materials specific to the tuberculosis laboratory. The TB SLMTA Harmonized Checklist was developed from the World Health Organisation Regional Office for Africa Stepwise Laboratory Quality Improvement Process Towards Accreditation checklist, and incorporated tuberculosis-specific requirements from the Global Laboratory Initiative Stepwise Process Towards Tuberculosis Laboratory Accreditation online tool. Implementation Four regional training-of-trainers workshops have been conducted since 2013. The TB SLMTA programme has been rolled out in 37 tuberculosis laboratories in 10 countries using the Workshop approach in 32 laboratories in five countries and the Facility-based approach in five tuberculosis laboratories in five countries. Conclusion Lessons learnt from early implementation of TB SLMTA suggest that a structured training and mentoring programme can build a foundation towards further quality improvement in tuberculosis laboratories. Structured mentoring, and institutionalisation of QMS into country programmes, is needed to support tuberculosis laboratories to achieve accreditation. PMID:28879165

Situational analysis of infant and young child nutrition policies and programmatic activities in Burkina Faso.

PubMed

Wuehler, Sara E; Ouedraogo, Albertine Wendpagnagdé

2011-04-01

Progress towards reducing mortality and malnutrition among children < 5 years of age has been less than needed to achieve related Millennium Development Goals. Therefore, several international agencies joined to 'Reposition children's right to adequate nutrition in the Sahel', starting with an analysis of current activities related to infant and young child nutrition (IYCN). The objectives of the present paper are to compare relevant national policies, training materials, programmes, and monitoring and evaluation activities with internationally accepted IYCN recommendations. These findings are available to assist countries in identifying inconsistencies and filling gaps in current programming. Between August and November 2008, key informants responsible for conducting IYCN-related activities in Burkina Faso were interviewed, and 153 documents were examined on the following themes: optimal breastfeeding and complementary feeding practices, prevention of micronutrient deficiencies, screening and treatment of acute malnutrition, prevention of mother-to-child transmission of HIV, food security and hygienic practices. National policy documents addressed nearly all of the key IYCN topics, specifically or generally. Formative research has identified some local barriers and beliefs related to general breastfeeding and complementary feeding practices, and other formative research addressed about half of the IYCN topics included in this review. However, there was little evidence that this formative research was being utilized in developing training materials and designing programme interventions. Nevertheless, the training materials that were reviewed do provide specific guidance for nearly all of the key IYCN topics. Although many of the IYCN programmes are intended for national coverage, we could only confirm with available reports that programme coverage extended to certain regions. Some programme monitoring and evaluation were conducted, but few of these provided information on whether the specific IYCN programme components were implemented as designed. Most surveys that were identified reported on general nutrition status indicators, but did not provide the detail necessary for programme impact evaluations. The policy framework is well established for optimal IYCN practices, but greater resources and capacity building are needed to: (i) conduct necessary research and adapt training materials and programme protocols to local needs; (ii) improve, carry out, and document monitoring and evaluation that highlight effective and ineffective programme components; and (iii) apply these findings in developing, expanding, and improving effective programmes. © 2011 Blackwell Publishing Ltd.

Elastin: a possible genetic biomarker for more severe ligament injuries in elite soccer. A pilot study

PubMed Central

Artells, Rosa; Pruna, Ricard; Dellal, Alexandre; Maffulli, Nicola

2016-01-01

Summary Background The study of new genetic biomarkers in genes related to connective tissue repair and regeneration may help to identify individuals with greater predisposition to injury, who may benefit from targeted preventive measures, and those who require longer recovery time following a muscle, ligament or tendon injury. The present study investigated whether single nucleotide polymorphisms of the Elastin gene could be related to MCL injury. Methods 60 top class football players were studied to identify single nucleotide polymorphisms for the Elastin (ELN) gene using Allelic Discrimination analysis. Each player was followed for 7 seasons, and each MCL injury was noted. Results Ligament injury rate, severity and recovery time are related to specific genotypes observed in the elastin gene, especially the ELN-AA (16 MCL) and the ELN-AG (3 MCL). Players with the ELN-GG genotype sustained no MCL injury during the 7 seasons of the study. Conclusions The identification of polymorphisms in the ELN gene may be used as a novel tool to better define an athlete’s genotype, and help to plan training and rehabilitation programmes to prevent or minimize MCL ligament injuries, and optimize the therapeutic and rehabilitation process after soft tissue injuries, and manage the workloads during trainings and matches. PMID:27900291

Genetic regulation of glucoraphanin accumulation in Beneforté® broccoli

PubMed Central

Traka, Maria H; Saha, Shikha; Huseby, Stine; Kopriva, Stanislav; Walley, Peter G; Barker, Guy C; Moore, Jonathan; Mero, Gene; den Bosch, Frans; Constant, Howard; Kelly, Leo; Schepers, Hans; Boddupalli, Sekhar; Mithen, Richard F

2013-01-01

Diets rich in broccoli (Brassica oleracea var italica) have been associated with maintenance of cardiovascular health and reduction in risk of cancer. These health benefits have been attributed to glucoraphanin that specifically accumulates in broccoli. The development of broccoli with enhanced concentrations of glucoraphanin may deliver greater health benefits. Three high-glucoraphanin F1 broccoli hybrids were developed in independent programmes through genome introgression from the wild species Brassica villosa. Glucoraphanin and other metabolites were quantified in experimental field trials. Global SNP analyses quantified the differential extent of B. villosa introgression The high-glucoraphanin broccoli hybrids contained 2.5–3 times the glucoraphanin content of standard hybrids due to enhanced sulphate assimilation and modifications in sulphur partitioning between sulphur-containing metabolites. All of the high-glucoraphanin hybrids possessed an introgressed B. villosa segment which contained a B. villosa Myb28 allele. Myb28 expression was increased in all of the high-glucoraphanin hybrids. Two high-glucoraphanin hybrids have been commercialised as Beneforté® broccoli. The study illustrates the translation of research on glucosinolate genetics from Arabidopsis to broccoli, the use of wild Brassica species to develop cultivars with potential consumer benefits, and the development of cultivars with contrasting concentrations of glucoraphanin for use in blinded human intervention studies. PMID:23560984

Epistasis and the sensitivity of phenotypic screens for beta thalassaemia.

PubMed

Penman, Bridget S; Gupta, Sunetra; Weatherall, David J

2015-04-01

Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur. © 2014 The Authors. British Journal of Haematology published by John Wiley & Sons Ltd.

CRISPR/Cas9: the Jedi against the dark empire of diseases.

PubMed

Khan, Sehrish; Mahmood, Muhammad Shahid; Rahman, Sajjad Ur; Zafar, Hassan; Habibullah, Sultan; Khan, Zulqarnain; Ahmad, Aftab

2018-03-28

Advances in Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated system (CRISPR/Cas9) has dramatically reshaped our ability to edit genomes. The scientific community is using CRISPR/Cas9 for various biotechnological and medical purposes. One of its most important uses is developing potential therapeutic strategies against diseases. CRISPR/Cas9 based approaches have been increasingly applied to the treatment of human diseases like cancer, genetic, immunological and neurological disorders and viral diseases. These strategies using CRISPR/Cas9 are not only therapy oriented but can also be used for disease modeling as well, which in turn can lead to the improved understanding of mechanisms of various infectious and genetic diseases. In addition, CRISPR/Cas9 system can also be used as programmable antibiotics to kill the bacteria sequence specifically and therefore can bypass multidrug resistance. Furthermore, CRISPR/Cas9 based gene drive may also hold the potential to limit the spread of vector borne diseases. This bacterial and archaeal adaptive immune system might be a therapeutic answer to previous incurable diseases, of course rigorous testing is required to corroborate these claims. In this review, we provide an insight about the recent developments using CRISPR/Cas9 against various diseases with respect to disease modeling and treatment, and what future perspectives should be noted while using this technology.

Individual-level outcomes from a national clinical leadership development programme.

PubMed

Patton, Declan; Fealy, Gerard; McNamara, Martin; Casey, Mary; Connor, Tom O; Doyle, Louise; Quinlan, Christina

2013-08-01

A national clinical leadership development programme was instituted for Irish nurses and midwives in 2010. Incorporating a development framework and leadership pathway and a range of bespoke interventions for leadership development, including workshops, action-learning sets, mentoring and coaching, the programme was introduced at seven pilot sites in the second half of 2011. The programme pilot was evaluated with reference to structure, process and outcomes elements, including individual-level programme outcomes. Evaluation data were generated through focus groups and group interviews, individual interviews and written submissions. The data provided evidence of nurses' and midwives' clinical leadership development through self and observer-reported behaviours and dispositions including accounts of how the programme participants developed and displayed particular clinical leadership competencies. A key strength of the new programme was that it involved interventions that focussed on specific leadership competencies to be developed within the practice context.

Chromatin programming by developmentally regulated transcription factors: lessons from the study of haematopoietic stem cell specification and differentiation.

PubMed

Obier, Nadine; Bonifer, Constanze

2016-11-01

Although the body plan of individuals is encoded in their genomes, each cell type expresses a different gene expression programme and therefore has access to only a subset of this information. Alterations to gene expression programmes are the underlying basis for the differentiation of multiple cell types and are driven by tissue-specific transcription factors (TFs) that interact with the epigenetic regulatory machinery to programme the chromatin landscape into transcriptionally active and inactive states. The haematopoietic system has long served as a paradigm for studying the molecular principles that regulate gene expression in development. In this review article, we summarize the current knowledge on the mechanism of action of TFs regulating haematopoietic stem cell specification and differentiation, and place this information into the context of general principles governing development. © 2016 Federation of European Biochemical Societies.

Mentoring of young professionals in the field of rheumatology in Europe: results from an EMerging EUlar NETwork (EMEUNET) survey.

PubMed

Frank-Bertoncelj, Mojca; Hatemi, Gulen; Ospelt, Caroline; Ramiro, Sofia; Machado, Pedro; Mandl, Peter; Gossec, Laure; Buch, Maya H

2014-01-01

To explore perceptions of, participation in and satisfaction with mentoring programmes among young clinicians and researchers in rheumatology in Europe. To identify mentoring needs and expectations focusing on gender-specific differences. A survey on mentoring in rheumatology was distributed to young clinicians and researchers in rheumatology in Europe through the EMEUNET network. We received 248 responses from 30 European countries. Although 82% of respondents expressed the need for a formal mentoring scheme by EULAR, only 35% participated in mentoring programmes and merely 20% were very satisfied with mentoring. Respondents very satisfied with mentoring were more likely to participate in research, but not clinical mentoring programmes. Career mentoring was perceived as the most beneficial type of mentoring for career development by 46% of respondents, only 35% of respondents, however, declared the existence of career mentoring programmes in their country. There was no gender difference considering participation in mentoring programmes. Women, however, tended to be less satisfied than men with existing mentoring programmes and considered expectations from mentoring as more important for their career development, especially when pertaining to career planning, greater autonomy/responsibility and establishing new networks/collaborations. Career mentoring, especially in the clinical setting, was recognised as a major unmet need of existing mentoring programmes in rheumatology in Europe. Gender-specific differences were identified in the expectations from mentoring. Given this and the importance of mentoring for career prosperity of young physicians and scientists, our survey represents the first step towards developing and refining mentoring programmes in rheumatology in Europe.

Adapting a generic coping skills programme for adolescents with type 1 diabetes: a qualitative study.

PubMed

Serlachius, A; Northam, E; Frydenberg, E; Cameron, F

2012-04-01

Few qualitative studies have examined the views of adolescents with type 1 diabetes mellitus (T1DM) regarding psychosocial programme development and content. We conducted focus groups with 13 adolescents with T1DM to explore stressors and gain feedback on adapting a generic coping skills programme. The following prevalent stressors were identified: parental/adolescent conflict, balancing self-management and daily life, and health concerns. Prevalent views on programme adaptation included enhancing social support and adding diabetes-specific information and skills. Based on these data, the programme was adapted to address stressors and support self-management, thus better meeting the needs of, and appeal to, adolescents with T1DM.

Sex-dependent expression of behavioural genetic architectures and the evolution of sexual dimorphism.

PubMed

Han, Chang S; Dingemanse, Niels J

2017-10-11

Empirical studies imply that sex-specific genetic architectures can resolve evolutionary conflicts between males and females, and thereby facilitate the evolution of sexual dimorphism. Sex-specificity of behavioural genetic architectures has, however, rarely been considered. Moreover, as the expression of genetic (co)variances is often environment-dependent, general inferences on sex-specific genetic architectures require estimates of quantitative genetics parameters under multiple conditions. We measured exploration and aggression in pedigreed populations of southern field crickets ( Gryllus bimaculatus ) raised on either naturally balanced (free-choice) or imbalanced (protein-deprived) diets. For each dietary condition, we measured for each behavioural trait (i) level of sexual dimorphism, (ii) level of sex-specificity of survival selection gradients, (iii) level of sex-specificity of additive genetic variance, and (iv) strength of the cross-sex genetic correlation. We report here evidence for sexual dimorphism in behaviour as well as sex-specificity in the expression of genetic (co)variances as predicted by theory. The additive genetic variances of exploration and aggression were significantly greater in males compared with females. Cross-sex genetic correlations were highly positive for exploration but deviating (significantly) from one for aggression; findings were consistent across dietary treatments. This suggests that genetic architectures characterize the sexually dimorphic focal behaviours across various key environmental conditions in the wild. Our finding also highlights that sexual conflict can be resolved by evolving sexually independent genetic architectures. © 2017 The Author(s).

Breeding racehorses: what price good genes?

PubMed

Wilson, Alastair J; Rambaut, Andrew

2008-04-23

Horse racing is a multi-million pound industry, in which genetic information is increasingly used to optimize breeding programmes. To maximize the probability of producing a successful offspring, the owner of a mare should mate her with a high-quality stallion. However, stallions with big reputations command higher stud fees and paying these is only a sensible strategy if, (i) there is a genetic variation for success on the racecourse and (ii) stud fees are an honest signal of a stallion's genetic quality. Using data on thoroughbred racehorses, and lifetime earnings from prize money (LE) as a measure of success, we performed quantitative genetic analyses within an animal model framework to test these two conditions. Although LE is heritable (VA=0.299+/-0.108, Pr=0.002), there is no genetic variance for stud fee and the genetic correlation between traits is therefore zero. This result is supported by an absence of any relationship between stud fees for currently active stallions and the predicted LE for their (hypothetical) offspring. Thus, while there are good genes to be bought, a stallion's fees are not an honest signal of his genetic quality and are a poor predictor of a foal's prize winning potential.

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

PubMed

Ayuso, C; Garcia-Sandoval, B; Najera, C; Valverde, D; Carballo, M; Antiñolo, G

1995-09-01

Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epidemiological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non-syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20/89 families = 30%) and Usher syndrome type 2 (44 families = 49%). Among non-syndromic RP forms, 12% were autosomal dominant, 39% autosomal recessive and 4% X-linked. Forty-one percent were isolated or simplex cases and in 4% the genetic type could not be established.

Get SET: aligning anatomy demonstrator programmes with Surgical Education and Training selection criteria.

PubMed

Rhodes, Danielle; Fogg, Quentin A; Lazarus, Michelle D

2018-05-01

Prevocational doctors aspiring to surgical careers are commonly recruited as anatomy demonstrators for undergraduate and graduate medical programmes. Entry into Surgical Education and Training (SET) is highly competitive and a unique opportunity exists to align anatomy demonstrator programmes with the selection criteria and core competencies of SET programmes. This study used a qualitative approach to (i) determine what criteria applicants for SET are assessed on and (ii) identify criteria that could be aligned with and enhanced by an anatomy demonstrator programme. The selection guidelines of all nine surgical specialties for the 2017 intake of SET trainees were analysed using qualitative content analysis methodology. The Royal Australasian College of Surgeons adopted a holistic approach to trainee selection that assessed both discipline-specific and discipline-independent skills. Qualitative content analysis identified eight categories of key selection criteria: medical expertise, scholarly activity, professional identity, interpersonal skills, integrity, self-management, insight and self-awareness and community involvement. The structured curriculum vitae was heavily weighted towards discipline-specific skills, such as medical expertise and scholarly activity. Insufficient information was available to determine the weighting of selection criteria assessed by the structured referee reports or interviews. Anatomy demonstrator programmes provide prevocational doctors with unique opportunities to develop surgical skills and competencies in a non-clinical setting. Constructively aligned anatomy demonstrator programmes may be particularly beneficial for prevocational doctors seeking to improve their anatomical knowledge, teaching skills or scholarly activity. © 2017 Royal Australasian College of Surgeons.

Nutrition-sensitive interventions and programmes: how can they help to accelerate progress in improving maternal and child nutrition?

PubMed

Ruel, Marie T; Alderman, Harold

2013-08-10

Acceleration of progress in nutrition will require effective, large-scale nutrition-sensitive programmes that address key underlying determinants of nutrition and enhance the coverage and effectiveness of nutrition-specific interventions. We reviewed evidence of nutritional effects of programmes in four sectors--agriculture, social safety nets, early child development, and schooling. The need for investments to boost agricultural production, keep prices low, and increase incomes is undisputable; targeted agricultural programmes can complement these investments by supporting livelihoods, enhancing access to diverse diets in poor populations, and fostering women's empowerment. However, evidence of the nutritional effect of agricultural programmes is inconclusive--except for vitamin A from biofortification of orange sweet potatoes--largely because of poor quality evaluations. Social safety nets currently provide cash or food transfers to a billion poor people and victims of shocks (eg, natural disasters). Individual studies show some effects on younger children exposed for longer durations, but weaknesses in nutrition goals and actions, and poor service quality probably explain the scarcity of overall nutritional benefits. Combined early child development and nutrition interventions show promising additive or synergistic effects on child development--and in some cases nutrition--and could lead to substantial gains in cost, efficiency, and effectiveness, but these programmes have yet to be tested at scale. Parental schooling is strongly associated with child nutrition, and the effectiveness of emerging school nutrition education programmes needs to be tested. Many of the programmes reviewed were not originally designed to improve nutrition yet have great potential to do so. Ways to enhance programme nutrition-sensitivity include: improve targeting; use conditions to stimulate participation; strengthen nutrition goals and actions; and optimise women's nutrition, time, physical and mental health, and empowerment. Nutrition-sensitive programmes can help scale up nutrition-specific interventions and create a stimulating environment in which young children can grow and develop to their full potential. Copyright © 2013 Elsevier Ltd. All rights reserved.

The gene and the genon concept: a functional and information-theoretic analysis

PubMed Central

Scherrer, Klaus; Jost, Jürgen

2007-01-01

‘Gene' has become a vague and ill-defined concept. To set the stage for mathematical analysis of gene storage and expression, we return to the original concept of the gene as a function encoded in the genome, basis of genetic analysis, that is a polypeptide or other functional product. The additional information needed to express a gene is contained within each mRNA as an ensemble of signals, added to or superimposed onto the coding sequence. To designate this programme, we introduce the term ‘genon'. Individual genons are contained in the pre-mRNA forming a pre-genon. A genomic domain contains a proto-genon, with the signals of transcription activation in addition to the pre-genon in the transcripts. Some contain several mRNAs and hence genons, to be singled out by RNA processing and differential splicing. The programme in the genon in cis is implemented by corresponding factors of protein or RNA nature contained in the transgenon of the cell or organism. The gene, the cis programme contained in the individual domain and transcript, and the trans programme of factors, can be analysed by information theory. PMID:17353929

A programmable metasurface with dynamic polarization, scattering and focusing control

NASA Astrophysics Data System (ADS)

Yang, Huanhuan; Cao, Xiangyu; Yang, Fan; Gao, Jun; Xu, Shenheng; Li, Maokun; Chen, Xibi; Zhao, Yi; Zheng, Yuejun; Li, Sijia

2016-10-01

Diverse electromagnetic (EM) responses of a programmable metasurface with a relatively large scale have been investigated, where multiple functionalities are obtained on the same surface. The unit cell in the metasurface is integrated with one PIN diode, and thus a binary coded phase is realized for a single polarization. Exploiting this anisotropic characteristic, reconfigurable polarization conversion is presented first. Then the dynamic scattering performance for two kinds of sources, i.e. a plane wave and a point source, is carefully elaborated. To tailor the scattering properties, genetic algorithm, normally based on binary coding, is coupled with the scattering pattern analysis to optimize the coding matrix. Besides, inverse fast Fourier transform (IFFT) technique is also introduced to expedite the optimization process of a large metasurface. Since the coding control of each unit cell allows a local and direct modulation of EM wave, various EM phenomena including anomalous reflection, diffusion, beam steering and beam forming are successfully demonstrated by both simulations and experiments. It is worthwhile to point out that a real-time switch among these functionalities is also achieved by using a field-programmable gate array (FPGA). All the results suggest that the proposed programmable metasurface has great potentials for future applications.

A programmable metasurface with dynamic polarization, scattering and focusing control

PubMed Central

Yang, Huanhuan; Cao, Xiangyu; Yang, Fan; Gao, Jun; Xu, Shenheng; Li, Maokun; Chen, Xibi; Zhao, Yi; Zheng, Yuejun; Li, Sijia

2016-01-01

Diverse electromagnetic (EM) responses of a programmable metasurface with a relatively large scale have been investigated, where multiple functionalities are obtained on the same surface. The unit cell in the metasurface is integrated with one PIN diode, and thus a binary coded phase is realized for a single polarization. Exploiting this anisotropic characteristic, reconfigurable polarization conversion is presented first. Then the dynamic scattering performance for two kinds of sources, i.e. a plane wave and a point source, is carefully elaborated. To tailor the scattering properties, genetic algorithm, normally based on binary coding, is coupled with the scattering pattern analysis to optimize the coding matrix. Besides, inverse fast Fourier transform (IFFT) technique is also introduced to expedite the optimization process of a large metasurface. Since the coding control of each unit cell allows a local and direct modulation of EM wave, various EM phenomena including anomalous reflection, diffusion, beam steering and beam forming are successfully demonstrated by both simulations and experiments. It is worthwhile to point out that a real-time switch among these functionalities is also achieved by using a field-programmable gate array (FPGA). All the results suggest that the proposed programmable metasurface has great potentials for future applications. PMID:27774997

A programmable metasurface with dynamic polarization, scattering and focusing control.

PubMed

Yang, Huanhuan; Cao, Xiangyu; Yang, Fan; Gao, Jun; Xu, Shenheng; Li, Maokun; Chen, Xibi; Zhao, Yi; Zheng, Yuejun; Li, Sijia

2016-10-24

Diverse electromagnetic (EM) responses of a programmable metasurface with a relatively large scale have been investigated, where multiple functionalities are obtained on the same surface. The unit cell in the metasurface is integrated with one PIN diode, and thus a binary coded phase is realized for a single polarization. Exploiting this anisotropic characteristic, reconfigurable polarization conversion is presented first. Then the dynamic scattering performance for two kinds of sources, i.e. a plane wave and a point source, is carefully elaborated. To tailor the scattering properties, genetic algorithm, normally based on binary coding, is coupled with the scattering pattern analysis to optimize the coding matrix. Besides, inverse fast Fourier transform (IFFT) technique is also introduced to expedite the optimization process of a large metasurface. Since the coding control of each unit cell allows a local and direct modulation of EM wave, various EM phenomena including anomalous reflection, diffusion, beam steering and beam forming are successfully demonstrated by both simulations and experiments. It is worthwhile to point out that a real-time switch among these functionalities is also achieved by using a field-programmable gate array (FPGA). All the results suggest that the proposed programmable metasurface has great potentials for future applications.

Leveraging Safety Programs to Improve and Support Security Programs

DOE Office of Scientific and Technical Information (OSTI.GOV)

Leach, Janice; Snell, Mark K.; Pratt, R.

2015-10-01

There has been a long history of considering Safety, Security, and Safeguards (3S) as three functions of nuclear security design and operations that need to be properly and collectively integrated with operations. This paper specifically considers how safety programmes can be extended directly to benefit security as part of an integrated facility management programme. The discussion will draw on experiences implementing such a programme at Sandia National Laboratories’ Annular Research Reactor Facility. While the paper focuses on nuclear facilities, similar ideas could be used to support security programmes at other types of high-consequence facilities and transportation activities.

Rural poverty reduction through centrally sponsored schemes.

PubMed

Saxena, N C

2007-10-01

This paper discusses the evolving profile of poverty in India and reviews the national performance of selected anti-poverty programmes between 1997-1998 and 2005. For each programme, it outlines the budgetary allocation principle used for the States and districts and analyzes budgetary performance over the period. The main objective is to explore the extent to which the anti-poverty programmes are reaching their target groups effectively. Finally, it identifies the specific factors responsible for under-performance and provides a set of recommendations for policy makers and programme implementers which could help improve the outcomes of the schemes.

Programmable Logic Application Notes

NASA Technical Reports Server (NTRS)

Katz, Richard

1998-01-01

This column will be provided each quarter as a source for reliability, radiation results, NASA capabilities, and other information on programmable logic devices and related applications. This quarter's column will include some announcements and some recent radiation test results and evaluations of interest. Specifically, the following topics will be covered: the Military and Aerospace Applications of Programmable Devices and Technologies Conference to be held at GSFC in September, 1998, proton test results, and some total dose results.

Defense Industrial Base Assessment: U.S. Integrated Circuit Design and Fabrication Capability

DTIC Science & Technology

2009-05-01

in the U.S for the period 2003-2006, with projections to 2011.6 The resulting draft OTE survey was field tested for accuracy and usability with a...custom application specific integrated circuits (ASICs) to field programmable gate arrays (FPGAs). Companies of all sizes can manufacture these IC...able to design one-time Electronically Programmable Gate Arrays (EPGAs) while nine are able to design Field Programmable Gate Arrays (FPGAs). Eight

Robert Edwards: the path to IVF☆

PubMed Central

Johnson, Martin H

2011-01-01

The early influences on Robert Edwards’ approach to the scientific research that led to human IVF are described. His interest as a graduate student in the genetics of early mammalian development stimulated him later to investigate whether the origins of human genetic diseases such as Down, Klinefelter and Turner syndromes might be explained by events during egg maturation. This clinical problem provided the most powerful stimulus to achieve both oocyte maturation and fertilization in vitro in humans. Indeed, preimplantation genetic diagnosis was his main goal until he met Patrick Steptoe in 1968. A re-evaluation of his meeting with Steptoe suggests that initially Steptoe’s laparoscopic skill was of interest for its potential to solve the sperm capacitation problem. Steptoe’s impact on Edwards was twofold. First, Steptoe’s long-held interest in infertility raised this application of IVF higher in Edwards’ priorities. Second, Steptoe offered a long-term partnership, in which oocyte collection without in-vitro maturation was a possibility. The professional criticism generated by their work together encouraged Edwards to pursue a deliberate programme of public education about the issues raised and to challenge and develop professional bioethical thought and discourse about reproduction. The early life and career of Robert Edwards are described and re-evaluated in the light of documentary evidence. His early interest in the genetics of development provided the major motivation behind his goal of achieving IVF in humans. Through this work, he aimed to understand and hopefully to reduce the transmission of genetic disease in humans. His meeting with Patrick Steptoe, the details of which are re-examined, increased the significance for Edwards of infertility as an outcome of IVF. It also led to a creative long-term research partnership, initiated a long-term programme of public education in the UK about reproductive science and stimulated the development of bioethical thinking. PMID:21680248

Improving production efficiency in the presence of genotype by environment interactions in pig genomic selection breeding programmes.

PubMed

Nirea, K G; Meuwissen, T H E

2017-04-01

We simulated a genomic selection pig breeding schemes containing nucleus and production herds to improve feed efficiency of production pigs that were cross-breed. Elite nucleus herds had access to high-quality feed, and production herds were fed low-quality feed. Feed efficiency in the nucleus herds had a heritability of 0.3 and 0.25 in the production herds. It was assumed the genetic relationships between feed efficiency in the nucleus and production were low (r g  = 0.2), medium (r g  = 0.5) and high (r g  = 0.8). In our alternative breeding schemes, different proportion of production animals were recorded for feed efficiency and genotyped with high-density panel of genetic markers. Genomic breeding value of the selection candidates for feed efficiency was estimated based on three different approaches. In one approach, genomic breeding value was estimated including nucleus animals in the reference population. In the second approach, the reference population was containing a mixture of nucleus and production animals. In the third approach, the reference population was only consisting of production herds. Using a mixture reference population, we generated 40-115% more genetic gain in the production environment as compared to only using nucleus reference population that were fed high-quality feed sources when the production animals were offspring of the nucleus animals. When the production animals were grand offspring of the nucleus animals, 43-104% more genetic gain was generated. Similarly, a higher genetic gain generated in the production environment when mixed reference population was used as compared to only using production animals. This was up to 19 and 14% when the production animals were offspring and grand offspring of nucleus animals, respectively. Therefore, in genomic selection pig breeding programmes, feed efficiency traits could be improved by properly designing the reference population. © 2016 Blackwell Verlag GmbH.

A modularized pulse programmer for NMR spectroscopy

NASA Astrophysics Data System (ADS)

Mao, Wenping; Bao, Qingjia; Yang, Liang; Chen, Yiqun; Liu, Chaoyang; Qiu, Jianqing; Ye, Chaohui

2011-02-01

A modularized pulse programmer for a NMR spectrometer is described. It consists of a networked PCI-104 single-board computer and a field programmable gate array (FPGA). The PCI-104 is dedicated to translate the pulse sequence elements from the host computer into 48-bit binary words and download these words to the FPGA, while the FPGA functions as a sequencer to execute these binary words. High-resolution NMR spectra obtained on a home-built spectrometer with four pulse programmers working concurrently demonstrate the effectiveness of the pulse programmer. Advantages of the module include (1) once designed it can be duplicated and used to construct a scalable NMR/MRI system with multiple transmitter and receiver channels, (2) it is a totally programmable system in which all specific applications are determined by software, and (3) it provides enough reserve for possible new pulse sequences.

Quantitative CRISPR interference screens in yeast identify chemical-genetic interactions and new rules for guide RNA design.

PubMed

Smith, Justin D; Suresh, Sundari; Schlecht, Ulrich; Wu, Manhong; Wagih, Omar; Peltz, Gary; Davis, Ronald W; Steinmetz, Lars M; Parts, Leopold; St Onge, Robert P

2016-03-08

Genome-scale CRISPR interference (CRISPRi) has been used in human cell lines; however, the features of effective guide RNAs (gRNAs) in different organisms have not been well characterized. Here, we define rules that determine gRNA effectiveness for transcriptional repression in Saccharomyces cerevisiae. We create an inducible single plasmid CRISPRi system for gene repression in yeast, and use it to analyze fitness effects of gRNAs under 18 small molecule treatments. Our approach correctly identifies previously described chemical-genetic interactions, as well as a new mechanism of suppressing fluconazole toxicity by repression of the ERG25 gene. Assessment of multiple target loci across treatments using gRNA libraries allows us to determine generalizable features associated with gRNA efficacy. Guides that target regions with low nucleosome occupancy and high chromatin accessibility are clearly more effective. We also find that the best region to target gRNAs is between the transcription start site (TSS) and 200 bp upstream of the TSS. Finally, unlike nuclease-proficient Cas9 in human cells, the specificity of truncated gRNAs (18 nt of complementarity to the target) is not clearly superior to full-length gRNAs (20 nt of complementarity), as truncated gRNAs are generally less potent against both mismatched and perfectly matched targets. Our results establish a powerful functional and chemical genomics screening method and provide guidelines for designing effective gRNAs, which consider chromatin state and position relative to the target gene TSS. These findings will enable effective library design and genome-wide programmable gene repression in many genetic backgrounds.

Designed cell consortia as fragrance-programmable analog-to-digital converters.

PubMed

Müller, Marius; Ausländer, Simon; Spinnler, Andrea; Ausländer, David; Sikorski, Julian; Folcher, Marc; Fussenegger, Martin

2017-03-01

Synthetic biology advances the rational engineering of mammalian cells to achieve cell-based therapy goals. Synthetic gene networks have nearly reached the complexity of digital electronic circuits and enable single cells to perform programmable arithmetic calculations or to provide dynamic remote control of transgenes through electromagnetic waves. We designed a synthetic multilayered gaseous-fragrance-programmable analog-to-digital converter (ADC) allowing for remote control of digital gene expression with 2-bit AND-, OR- and NOR-gate logic in synchronized cell consortia. The ADC consists of multiple sampling-and-quantization modules sensing analog gaseous fragrance inputs; a gas-to-liquid transducer converting fragrance intensity into diffusible cell-to-cell signaling compounds; a digitization unit with a genetic amplifier circuit to improve the signal-to-noise ratio; and recombinase-based digital expression switches enabling 2-bit processing of logic gates. Synthetic ADCs that can remotely control cellular activities with digital precision may enable the development of novel biosensors and may provide bioelectronic interfaces synchronizing analog metabolic pathways with digital electronics.

Women's experiences of developing musculoskeletal diseases: employment challenges and policy recommendations.

PubMed

Crooks, Valorie A

2007-07-30

To answer three specific questions: (i) How do women experience the workplace after the onset of a musculoskeletal disease; (ii) What employment policy and programme suggestions can they offer for ways to better support chronically ill women in their abilities to maintain workforce participation; and (iii) How are these women's employment policy and programme recommendations informed by their own lived experiences and desires? In-depth interviews were conducted with 18 women who had developed musculoskeletal diseases while involved in the labour market. Data were coded and analysed thematically. Participants identified three common workplace barriers experienced and three types of workplace accommodations commonly requested. They offered four specific employment policy and programme recommendations for ways to better support women who develop musculoskeletal diseases in maintaining labour market participation. It is found that their employment policy and programme recommendations are informed by their own experiences in the workplace and desires for being supported in maintaining involvement in paid labour. Creating employment programmes and policies that support chronically ill women in their attempts to remain involved in the workforce based on how much paid labour they are able to perform and where they are best able to work is of the utmost importance.

Process evaluation of the implementation of scorecard-based antenatal risk assessment, care pathways and interdisciplinary consultation: the Healthy Pregnancy 4 All study.

PubMed

Vos, A A; van Voorst, S F; Posthumus, A G; Waelput, A J M; Denktaş, S; Steegers, E A P

2017-09-01

To evaluate the implementation of a complex intervention in the antenatal healthcare field in 14 Dutch municipalities. The intervention consisted of the implementation of a systematic scorecard-based risk assessment in pregnancy, subsequent patient-tailored care pathways, and consultations of professionals from different medical and social disciplines. Saunders's seven-step method was used for the development of a programme implementation monitoring plan, with specific attention to the setting and context of the programme. Data were triangulated from multiple sources, and prespecified criteria were applied to examine the evidence for implementation. Six out of 11 municipalities (54%) met the implementation criteria for the entire risk assessment programme, whereas three municipalities (27%) met the criteria if the three components of implementation were analysed separately. A process evaluation of implementation of a complex intervention is possible. The results can be used to improve understanding of the associations between specific programme elements and programme outcomes on effectiveness of the intervention. Additionally, the results are important for formative purposes to assess how future implementation of antenatal risk assessment can be improved in comparable contexts. Copyright © 2017. Published by Elsevier Ltd.

HP-25 PROGRAMMABLE POCKET CALCULATOR APPLIED TO AIR POLLUTION MEASUREMENT STUDIES: STATIONARY SOURCES

EPA Science Inventory

The report should be useful to persons concerned with Air Pollution Measurement Studies of Stationary Industrial Sources. It gives detailed descriptions of 22 separate programs, written specifically for the Hewlett Packard Model HP-25 manually programmable pocket calculator. Each...

HP-65 PROGRAMMABLE POCKET CALCULATOR APPLIED TO AIR POLLUTION MEASUREMENT STUDIES: STATIONARY SOURCES

EPA Science Inventory

The handbook is intended for persons concerned with air pollution measurement studies of stationary industrial sources. It gives detailed descriptions of 22 different programs written specifically for the Hewlett Packard Model HP-65 card-programmable pocket calculator. For each p...

Implementation of meiosis prophase I programme requires a conserved retinoid-independent stabilizer of meiotic transcripts

PubMed Central

Abby, Emilie; Tourpin, Sophie; Ribeiro, Jonathan; Daniel, Katrin; Messiaen, Sébastien; Moison, Delphine; Guerquin, Justine; Gaillard, Jean-Charles; Armengaud, Jean; Langa, Francina; Toth, Attila; Martini, Emmanuelle; Livera, Gabriel

2016-01-01

Sexual reproduction is crucially dependent on meiosis, a conserved, specialized cell division programme that is essential for the production of haploid gametes. Here we demonstrate that fertility and the implementation of the meiotic programme require a previously uncharacterized meiosis-specific protein, MEIOC. Meioc invalidation in mice induces early and pleiotropic meiotic defects in males and females. MEIOC prevents meiotic transcript degradation and interacts with an RNA helicase that binds numerous meiotic mRNAs. Our results indicate that proper engagement into meiosis necessitates the specific stabilization of meiotic transcripts, a previously little-appreciated feature in mammals. Remarkably, the upregulation of MEIOC at the onset of meiosis does not require retinoic acid and STRA8 signalling. Thus, we propose that the complete induction of the meiotic programme requires both retinoic acid-dependent and -independent mechanisms. The latter process involving post-transcriptional regulation likely represents an ancestral mechanism, given that MEIOC homologues are conserved throughout multicellular animals. PMID:26742488

Age-shifting in malaria incidence as a result of induced immunological deficit: a simulation study.

PubMed

Pemberton-Ross, Peter; Smith, Thomas A; Hodel, Eva Maria; Kay, Katherine; Penny, Melissa A

2015-07-25

Effective population-level interventions against Plasmodium falciparum malaria lead to age-shifts, delayed morbidity or rebounds in morbidity and mortality whenever they are deployed in ways that do not permanently interrupt transmission. When long-term intervention programmes target specific age-groups of human hosts, the age-specific morbidity rates ultimately adjust to new steady-states, but it is very difficult to study these rates and the temporal dynamics leading up to them empirically because the changes occur over very long time periods. This study investigates the age and magnitude of age- and time- shifting of incidence induced by either pre-erythrocytic vaccination (PEV) programmes or seasonal malaria chemo-prevention (SMC), using an ensemble of individual-based stochastic simulation models of P. falciparum dynamics. The models made various assumptions about immunity decay, transmission heterogeneity and were parameterized with data on both age-specific infection and disease incidence at different levels of exposure, on the durations of different stages of the parasite life-cycle and on human demography. Effects of transmission intensity, and of levels of access to malaria treatment were considered. While both PEV and SMC programmes are predicted to have overall strongly positive health effects, a shift of morbidity into older children is predicted to be induced by either programme if transmission levels remain static and not reduced by other interventions. Predicted shifting of burden continue into the second decade of the programme. Even if long-term surveillance is maintained it will be difficult to avoid mis-attribution of such long-term changes in age-specific morbidity patterns to other factors. Conversely, short-lived transient changes in incidence measured soon after introduction of a new intervention may give over-positive views of future impacts. Complementary intervention strategies could be designed to specifically protect those age-groups at risk from burden shift.

Pedagogical principles underpinning undergraduate Nurse Education in the UK: A review.

PubMed

Mackintosh-Franklin, Carolyn

2016-05-01

This review provides a contextual report of the current use of pedagogy in undergraduate nursing programmes run by Higher Education Institutes (HEIs) in the United Kingdom (UK). Pedagogy provides the framework for educators to add shape and structure to the educational process, and to support student learning and programme development. Traditionally nurse education has used a behaviourist approach focusing on learning outcomes and competency based education, although there is also increasing support for the cognitive/student learning focused pedagogic approach. The keywords andragogy, pedagogy and student centred learning were used in a systematic stepwise descriptive content analysis of the programme specifications and programme handbooks of 40 current undergraduate programme documents, leading to an undergraduate award and professional registration as a nurse. 42% (17) of documents contained reference to the words, pedagogy and student centred learning, whilst no documents used the word andragogy. Where identified, pedagogy was used in a superficial manner, with only three documents identifying a specific pedagogical philosophy: one HEI citing a value based curriculum and two HEIs referencing social constructionism. Nine HEIs made reference to student centred learning but with no additional pedagogic information. A review of teaching, learning and assessment strategies indicated no difference between the documented strategies used by HEIs when comparing those with an espoused pedagogy and those without. Although educational literature supports the use of pedagogic principles in curriculum design, this is not explicit in undergraduate nursing programme documentation, and suggests that nurse educators do not view pedagogy as important to their programmes. Instead programmes appear to be developed based on operational and functional requirements with a focus on acquisition of knowledge and skills, and the fitness to practice of graduates entering the nursing workforce. Copyright © 2016 Elsevier Ltd. All rights reserved.

Serial analysis of gene expression (SAGE) in bovine trypanotolerance: preliminary results

PubMed Central

2003-01-01

In Africa, trypanosomosis is a tsetse-transmitted disease which represents the most important constraint to livestock production. Several indigenous West African taurine (Bos taurus) breeds, such as the Longhorn (N'Dama) cattle are well known to control trypanosome infections. This genetic ability named "trypanotolerance" results from various biological mechanisms under multigenic control. The methodologies used so far have not succeeded in identifying the complete pool of genes involved in trypanotolerance. New post genomic biotechnologies such as transcriptome analyses are efficient in characterising the pool of genes involved in the expression of specific biological functions. We used the serial analysis of gene expression (SAGE) technique to construct, from Peripheral Blood Mononuclear Cells of an N'Dama cow, 2 total mRNA transcript libraries, at day 0 of a Trypanosoma congolense experimental infection and at day 10 post-infection, corresponding to the peak of parasitaemia. Bioinformatic comparisons in the bovine genomic databases allowed the identification of 187 up- and down- regulated genes, EST and unknown functional genes. Identification of the genes involved in trypanotolerance will allow to set up specific microarray sets for further metabolic and pharmacological studies and to design field marker-assisted selection by introgression programmes. PMID:12927079

Serial analysis of gene expression (SAGE) in bovine trypanotolerance: preliminary results.

PubMed

Berthier, David; Quéré, Ronan; Thevenon, Sophie; Belemsaga, Désiré; Piquemal, David; Marti, Jacques; Maillard, Jean-Charles

2003-01-01

In Africa, trypanosomosis is a tsetse-transmitted disease which represents the most important constraint to livestock production. Several indigenous West African taurine Bos taurus) breeds, such as the Longhorn (N'Dama) cattle are well known to control trypanosome infections. This genetic ability named "trypanotolerance" results from various biological mechanisms under multigenic control. The methodologies used so far have not succeeded in identifying the complete pool of genes involved in trypanotolerance. New post genomic biotechnologies such as transcriptome analyses are efficient in characterising the pool of genes involved in the expression of specific biological functions. We used the serial analysis of gene expression (SAGE) technique to construct, from Peripheral Blood Mononuclear Cells of an N'Dama cow, 2 total mRNA transcript libraries, at day 0 of a Trypanosoma congolense experimental infection and at day 10 post-infection, corresponding to the peak of parasitaemia. Bioinformatic comparisons in the bovine genomic databases allowed the identification of 187 up- and down- regulated genes, EST and unknown functional genes. Identification of the genes involved in trypanotolerance will allow to set up specific microarray sets for further metabolic and pharmacological studies and to design field marker-assisted selection by introgression programmes.

A partnership approach to leadership development for Directors of Nursing in Older People's services in Ireland - articulating the impact.

PubMed

Ford, Pauline; Wynne, Mary; Rice, Matthew; Grogan, Carol

2008-03-01

This paper outlines the approach undertaken by the Royal College of Nursing to design, deliver and evaluate a programme of leadership development for Directors of Nursing in Older People's services commissioned by the Nursing and Midwifery Planning Development Unit Dublin, Kildare and Wicklow. The programme was developed to support Nurse Directors of these services to enhance their leadership capabilities at a time of significant health service reform and investment. The programme was underpinned by the Office of Health Management's Nursing Competency Framework (Rush et al. 2000). The key influences for the programme were the significant contemporary policy and organizational developments directly experienced by Directors of Nursing. This paper will focus on the benefits for participants, commissioners and service users alike in adopting this kind of partnership approach to the design, delivery and evaluation of a bespoke RCN leadership development programme which combined the experience of RCN Gerontology alongside Leadership. Specifically, the paper focuses on the context of the commissioned work and the ways of working between the members of the delivery team and the commissioners, their roles and responsibilities and the importance of these interrelationships in the delivery of a development programme which would meet the specific needs of this key group of nurse leaders. The key learning and experiences of the Directors of Nursing are highlighted.

Co-circulation of genetically distinct groups of avian paramyxovirus type 1 in pigeon Newcastle disease in Iran.

PubMed

Rezaei Far, A; Peighambari, S M; Pourbakhsh, S A; Ashtari, A; Soltani, M

2017-02-01

Pigeons are considered as one of the major natural reservoirs in the epidemiology of Newcastle disease (ND). In this study, the partial sequence of fusion protein gene of 17 pigeon-origin ND viruses (NDVs) isolated during 2012-2013 in Iran was analysed. Since the studied isolates showed F0 protein cleavage sites compatible with velogenic NDVs, all were considered as virulent NDVs. Two isolates carried 112RRQKRF117 as the cleavage site motif, whereas the rest demonstrated 112KRQKRF117 motif which just recently has been reported among Iranian virulent NDVs. Phylogenetic analysis divided all these diverse isolates in two distinct clusters within class II genotype VI. Based on the partial fusion protein gene sequence, 15 out of 17 isolates showed the highest genetic identity to subgenotype VIb/2 and the other two isolates were placed in a distinct genetic group of genotype VI. Based on recent findings, at least two different sublineages of genotype VI are causing the ND outbreaks in the pigeon population and are circulating simultaneously along with virulent NDVs of genotype VII in various species in Iran. The continuing circulation of a diverse group of virulent NDVs as an enzootic in widespread species such as pigeon can cause outbreaks in commercial poultry flocks and also failure in controlling programmes. Therefore, the constant monitoring and awareness of the virus characteristics should be considered in controlling programmes against ND in Iran.

Programming the Assembly of Unnatural Materials with Nucleic Acids

NASA Astrophysics Data System (ADS)

Mirkin, Chad

Nature directs the assembly of enormously complex and highly functional materials through an encoded class of biomolecules, nucleic acids. The establishment of a similarly programmable code for the construction of synthetic, unnatural materials would allow researchers to impart functionality by precisely positioning all material components. Although it is exceedingly difficult to control the complex interactions between atomic and molecular species in such a manner, interactions between nanoscale components can be directed through the ligands attached to their surface. Our group has shown that nucleic acids can be used as highly programmable surface ligands to control the spacing and symmetry of nanoparticle building blocks in structurally sophisticated and functional materials. These nucleic acids function as programmable ``bonds'' between nanoparticle ``atoms,'' analogous to a nanoscale genetic code for assembling materials. The sequence and length tunability of nucleic acid bonds has allowed us to define a powerful set of design rules for the construction of nanoparticle superlattices with more than 30 unique lattice symmetries, tunable defect structures and interparticle spacings, and several well-defined crystal habits. Further, the nature of the nucleic acid bond enables an additional level of structural control: temporal regulation of dynamic material response to external biomolecular and chemical stimuli. This control allows for the reversible transformation between thermodynamic states with different crystal symmetries, particle stoichiometries, thermal stabilities, and interparticle spacings on demand. Notably, our unique genetic approach affords functional nanoparticle architectures that, among many other applications, can be used to systematically explore and manipulate optoelectronic material properties, such as tunable interparticle plasmonic interactions, microstructure-directed energy emission, and coupled plasmonic and photonic modes.

Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 Genetic Engineering: Robotic Genetic Surgery.

PubMed

Deshpande, Kaivalya; Vyas, Arpita; Balakrishnan, Archana; Vyas, Dinesh

2015-12-01

As a novel technology that utilizes the endogenous immune defense system in bacteria, CRISPR/Cas9 has transcended DNA engineering into a more pragmatic and clinically efficacious field. Using programmable sgRNA sequences and nucleases, the system effectively introduces double strand breaks in target genes within an entire organism. The applications of CRISPR range from biomedicine to drug development and epigenetic modification. Studies have demonstrated CRISPR mediated targeting of various tumorigenic genes and effector proteins known to be involved in colon carcinomas. This technology significantly expands the scope of gene manipulation and allows for an enhanced modeling of colon cancers, as well as various other malignancies.

"Cultural Responsiveness": A Framework for Re-Thinking Students' Interculturality through Study Abroad

ERIC Educational Resources Information Center

Giovanangeli, Angela; Oguro, Susan

2016-01-01

While intercultural competence is commonly a goal of university study abroad programmes, debates around criteria for assessing this competence have highlighted the challenges in appropriately identifying students' intercultural learning in relation to specific university programmes. To overcome these issues, this research moves beyond…

Variation in community intervention programmes and consequences for children and families: the example of Sure Start Local Programmes.

PubMed

Melhuish, Edward; Belsky, Jay; Anning, Angela; Ball, Mog; Barnes, Jacqueline; Romaniuk, Helena; Leyland, Alastair

2007-06-01

An area-based initiative, Sure Start Local Programmes (SSLPs), was established by the UK government to reduce social exclusion through improving the well-being of children aged 0-3 years and their families in disadvantaged communities; a true community intervention in that all children under four and their families in specified areas served as targets of universal services. A national evaluation examined the links between variation in programme implementation and effectiveness. Data gathered from multiple sources produced measures of implementation in terms of proficiency, services and staffing. Measures of programme impact on child/parenting outcomes derived from multilevel models, controlling for child, family and area characteristics, were identified to demonstrate programme effectiveness. Some modest linkage between programme implementation (e.g., proficiency, empowerment of parents and staff, identification of users) and effectiveness for child and parenting outcomes. Overall proficiency and specific aspects of implementation may influence effectiveness, which should guide the design of other child, family and community services.

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.

PubMed

Barben, Jürg; Castellani, Carlo; Dankert-Roelse, Jeannette; Gartner, Silvia; Kashirskaya, Nataliya; Linnane, Barry; Mayell, Sarah; Munck, Anne; Sands, Dorota; Sommerburg, Olaf; Pybus, Simon; Winters, Victoria; Southern, Kevin W

2017-03-01

Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. Questionnaires were sent to key workers in each European country. In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity. There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Scientists Grow Therapeutic Protein in Engineered Soya Bean Seeds to Prevent AIDS | Poster

Cancer.gov

Genetically modified soya beans provide a scalable, low-cost method of producing microbicides that prevent AIDS, a technique sustainable for resource-poor countries where AIDS is spreading rapidly. According to the Joint United Nations Programme on HIV/AIDS, more than 36 million people worldwide are living with HIV. While the number of AIDS-related deaths are decreasing,

Quality of care in patients with psoriasis: an initial clinical study of an international disease management programme.

PubMed

de Korte, J; Van Onselen, J; Kownacki, S; Sprangers, M A G; Bos, J D

2005-01-01

Patients with psoriasis have to cope with their disease for many years or even throughout their entire life. To provide optimal care, a disease management programme was developed. This programme consisted of disease education, disease management training, and psychological support, together with topical treatment. To test a disease management programme in dermatological practice, to assess patients' satisfaction with this programme, and adherence to topical treatment. Additionally, disease severity and quality of life were assessed. An initial clinical investigation was conducted in 10 European treatment centres. A total of 330 patients were included. Patient satisfaction, adherence, disease severity and quality of life were measured with study-specific and standardized self-report questionnaires. Patients reported a high degree of satisfaction with the programme, and a high degree of adherence to topical treatment. Disease severity and quality of life significantly improved. The programme was well received by the participating professionals. The disease management programme was found to be a useful tool in the management of psoriasis, providing patients with relief from the burden of psoriasis in everyday life. A full-scale evaluation is recommended.

Development of programmable small DNA-binding molecules with epigenetic activity for induction of core pluripotency genes.

PubMed

Pandian, Ganesh N; Ohtsuki, Akimichi; Bando, Toshikazu; Sato, Shinsuke; Hashiya, Kaori; Sugiyama, Hiroshi

2012-04-15

Epigenetic modifications that govern the gene expression are often overlooked with the design of artificial genetic switches. N-Methylpyrrole-N-methylimidazole (PI) hairpin polyamides are programmable small DNA binding molecules that have been studied in the context of gene regulation. Recently, we synthesized a library of compounds by conjugating PI polyamides with SAHA, a chromatin-modifier. Among these novel compounds, PI polyamide-SAHA conjugate 1 was shown to epigenetically activate pluripotency genes in mouse embryonic fibroblasts. Here, we report the synthesis of the derivatives of conjugate 1 and demonstrate that these epigenetically active molecules could be developed to improve the induction of pluripotency factors. Copyright © 2012 Elsevier Ltd. All rights reserved.

[Knowledge and use of different support programs in the context of early prevention in relation to family-related psychosocial burden].

PubMed

Eickhorst, Andreas; Schreier, Andrea; Brand, Christian; Lang, Katrin; Liel, Christoph; Renner, Ilona; Neumann, Anna; Sann, Alexandra

2016-10-01

The Federal Initiative for Early Prevention (funded by German ministry BMFSFJ), through the development of specific assistance programmes, supports families that suffer from psychosocial burden. As nationally representative data are missing, the National Centre for Early Prevention carried out a national survey on the psychosocial burden experienced by families with children aged 0-3 years. Ascertainment of the connections between family-related psychosocial burden and knowledge and use of different assistance programmes. Via paediatricians, 8063 parents were recruited to complete a questionnaire on objective burden, subjective experience of burden as well as knowledge and use of assistance programmes. Differences in knowledge and use between educational groups were tested by means of chi-squared tests. Very good knowledge of available assistance programmes and the offer and acceptance of aid by family midwives were subjected to regression analyses. Clear differences in knowledge and use of individual assistance programmes between educational groups were observed. Many programmes are predominantly used by better educated families, although there are exceptions, for example in the case of family midwives. Despite generally small group differences, less-educated families are the proportionally largest user group of family midwives. Furthermore we present average predicted percentages of knowledge and use for specific groups of psychosocially burdened parents as derived from the regression analyses. The results are discussed in the context of barriers to access for individual assistance programmes as well as their match with families' needs in the practice of early prevention.

A preliminary report on the genetic variation in pointed gourd (Trichosanthes dioica Roxb.) as assessed by random amplified polymorphic DNA.

PubMed

Adhikari, S; Biswas, A; Bandyopadhyay, T K; Ghosh, P D

2014-06-01

Pointed gourd (Trichosanthes dioica Roxb.) is an economically important cucurbit and is extensively propagated through vegetative means, viz vine and root cuttings. As the accessions are poorly characterized it is important at the beginning of a breeding programme to discriminate among available genotypes to establish the level of genetic diversity. The genetic diversity of 10 pointed gourd races, referred to as accessions was evaluated. DNA profiling was generated using 10 sequence independent RAPD markers. A total of 58 scorable loci were observed out of which 18 (31.03%) loci were considered polymorphic. Genetic diversity parameters [average and effective number of alleles, Shannon's index, percent polymorphism, Nei's gene diversity, polymorphic information content (PIC)] for RAPD along with UPGMA clustering based on Jaccard's coefficient were estimated. The UPGMA dendogram constructed based on RAPD analysis in 10 pointed gourd accessions were found to be grouped in a single cluster and may represent members of one heterotic group. RAPD analysis showed promise as an effective tool in estimating genetic polymorphism in different accessions of pointed gourd.

Genetically Encoded Catalytic Hairpin Assembly for Sensitive RNA Imaging in Live Cells.

PubMed

Mudiyanselage, Aruni P K K Karunanayake; Yu, Qikun; Leon-Duque, Mark A; Zhao, Bin; Wu, Rigumula; You, Mingxu

2018-06-26

DNA and RNA nanotechnology has been used for the development of dynamic molecular devices. In particular, programmable enzyme-free nucleic acid circuits, such as catalytic hairpin assembly, have been demonstrated as useful tools for bioanalysis and to scale up system complexity to an extent beyond current cellular genetic circuits. However, the intracellular functions of most synthetic nucleic acid circuits have been hindered by challenges in the biological delivery and degradation. On the other hand, genetically encoded and transcribed RNA circuits emerge as alternative powerful tools for long-term embedded cellular analysis and regulation. Herein, we reported a genetically encoded RNA-based catalytic hairpin assembly circuit for sensitive RNA imaging inside living cells. The split version of Broccoli, a fluorogenic RNA aptamer, was used as the reporter. One target RNA can catalytically trigger the fluorescence from tens-to-hundreds of Broccoli. As a result, target RNAs can be sensitively detected. We have further engineered our circuit to allow easy programming to image various target RNA sequences. This design principle opens the arena for developing a large variety of genetically encoded RNA circuits for cellular applications.

Genetic parameters of pelt character, feed efficiency and size traits in Finnish blue fox (Vulpes lagopus).

PubMed

Kempe, R; Koskinen, N; Strandén, I

2013-12-01

Pelt character traits (size, quality, colour clarity, darkness) are important economic traits in blue fox breeding. Better feed efficiency (FE) is another economically important and new breeding goal for fur animals. The purpose of this study was to determine the correlations between pelt character traits, FE and size traits and to estimate genetic parameters for pelt character traits. Pelt size (pSIcm ) had a high positive genetic correlation with animal grading size (gSI), final body weight (BWFin), body length and daily gain (DG), and a moderate correlation with body condition score (BCS). Animal body length and BCS (describing fatness) were considered as genetically different traits. Genetic correlations between pelt quality and size traits were estimated without precision and did not differ from zero, but colour clarity (pCL) had a low antagonistic genetic correlation with FE. Pelt size and DG had a favourable genetic correlation with FE but a fairly high unfavourable genetic correlation with dry matter feed intake. The current emphasis on selection for larger animal and pelt size improves FE indirectly, but selection for larger pelt size favours fast-growing and fat individuals and simultaneously increases feed intake. The detected genetic connections between FE, size, feed intake and pCL should be taken into account in the Finnish blue fox breeding programme. © 2013 Blackwell Verlag GmbH.

Genetic Parallel Programming: design and implementation.

PubMed

Cheang, Sin Man; Leung, Kwong Sak; Lee, Kin Hong

2006-01-01

This paper presents a novel Genetic Parallel Programming (GPP) paradigm for evolving parallel programs running on a Multi-Arithmetic-Logic-Unit (Multi-ALU) Processor (MAP). The MAP is a Multiple Instruction-streams, Multiple Data-streams (MIMD), general-purpose register machine that can be implemented on modern Very Large-Scale Integrated Circuits (VLSIs) in order to evaluate genetic programs at high speed. For human programmers, writing parallel programs is more difficult than writing sequential programs. However, experimental results show that GPP evolves parallel programs with less computational effort than that of their sequential counterparts. It creates a new approach to evolving a feasible problem solution in parallel program form and then serializes it into a sequential program if required. The effectiveness and efficiency of GPP are investigated using a suite of 14 well-studied benchmark problems. Experimental results show that GPP speeds up evolution substantially.

Molecular genetic analysis of a cattle population to reconstitute the extinct Algarvia breed

PubMed Central

2010-01-01

Background Decisions to initiate conservation programmes need to account for extant variability, diversity loss and cultural and economic aspects. Molecular markers were used to investigate if putative Algarvia animals could be identified for use as progenitors in a breeding programme to recover this nearly extinct breed. Methods 46 individuals phenotypically representative of Algarvia cattle were genotyped for 27 microsatellite loci and compared with 11 Portuguese autochthonous and three imported breeds. Genetic distances and factorial correspondence analyses (FCA) were performed to investigate the relationship among Algarvia and related breeds. Assignment tests were done to identify representative individuals of the breed. Y chromosome and mtDNA analyses were used to further characterize Algarvia animals. Gene- and allelic-based conservation analyses were used to determine breed contributions to overall genetic diversity. Results Genetic distance and FCA results confirmed the close relationship between Algarvia and southern Portuguese breeds. Assignment tests without breed information classified 17 Algarvia animals in this cluster with a high probability (q > 0.95). With breed information, 30 cows and three bulls were identified (q > 0.95) that could be used to reconstitute the Algarvia breed. Molecular and morphological results were concordant. These animals showed intermediate levels of genetic diversity (MNA = 6.0 ± 1.6, Rt = 5.7 ± 1.4, Ho = 0.63 ± 0.19 and He = 0.69 ± 0.10) relative to other Portuguese breeds. Evidence of inbreeding was also detected (Fis = 0.083, P < 0.001). The four Algarvia bulls had Y-haplotypes H6Y2 and H11Y2, common in Portuguese cattle. The mtDNA composition showed prevalence of T3 matrilines and presence of the African-derived T1a haplogroup. This analysis confirmed the genetic proximity of Algarvia and Garvonesa breeds (Fst = 0.028, P > 0.05). Algarvia cattle provide an intermediate contribution (CB = 6.18, CW = -0.06 and D1 = 0.50) to the overall gene diversity of Portuguese cattle. Algarvia and seven other autochthonous breeds made no contribution to the overall allelic diversity. Conclusions Molecular analyses complemented previous morphological findings to identify 33 animals that can be considered remnants of the Algarvia breed. Results of genetic diversity and conservation analyses provide objective information to establish a management program to reconstitute the Algarvia breed. PMID:20540741

Conflict or Cooperation: The Use of Backchannelling in ELF Negotiations

ERIC Educational Resources Information Center

Bjorge, Anne Kari

2010-01-01

The international business community relies heavily on English Lingua Franca (ELF) as a shared means of communication, and English business language programmes thus feature prominently within the field of English for Specific Purposes (ESP). Business ESP programmes, however, have little focus on active listening, which previous research has…

Journal of Astonishment--A Tool to Increase Satisfaction with Exchange Programmes

ERIC Educational Resources Information Center

Reinhardt, Claus H.; Rosen, Evelyne N.

2012-01-01

Many medical students use exchange programmes to enrich their portfolio. However, such a confrontation with reality can be challenging because custom and practice sometimes differ radically between countries. Exchange students post specific peculiarities, as encountered by them abroad, onto the medical exchange website. They can ask for the…

Quality of Individualised Education Programme Goals and Objectives for Preschool Children with Disabilities

ERIC Educational Resources Information Center

Rakap, Salih

2015-01-01

Individualised education programmes (IEPs) are the road maps for individualising services for children with disabilities, specifically through the development of high-quality child goals/objectives. High-quality IEP goals/objectives that are developed based on a comprehensive assessment of child functioning and directly connected to intervention…

Students' Evaluation of Their English Language Learning Experience

ERIC Educational Resources Information Center

Maizatulliza, M.; Kiely, R.

2017-01-01

In the field of English language teaching and learning, there is a long history of investigating students' performance while they are undergoing specific learning programmes. This research study, however, focused on students' evaluation of their English language learning experience after they have completed their programme. The data were gathered…

Critical Text Analysis: Linking Language and Cultural Studies

ERIC Educational Resources Information Center

Wharton, Sue

2011-01-01

Many UK universities offer degree programmes in English Language specifically for non-native speakers of English. Such programmes typically include not only language development but also development in various areas of content knowledge. A challenge that arises is to design courses in different areas that mutually support each other, thus…

Data from: Retrospective analysis of a classical biological control programme

USDA-ARS?s Scientific Manuscript database

This database contains the raw data for the publication entitled Naranjo, S.E. 2018. Retrospective analysis of a classical biological control programme. Journal of Applied Ecology https://doi.org/10.1111/1365-2664.13163. Specific data include field-based, partial life table data for immature stage...

Postgraduate Programmes on Environmental Water Resources Engineering and Management in Greek Universities

ERIC Educational Resources Information Center

Latinopoulos, Pericles; Angelidis, Panagiotis

2014-01-01

The management of complex water problems is nowadays being practised through new ways and approaches. Therefore, water engineers, planners and managers should be appropriately educated through modern undergraduate curricula and by well-designed postgraduate specialisation programmes. Within this framework, a study of the specific characteristics…

Genetic diversity of an Azorean endemic and endangered plant species inferred from inter-simple sequence repeat markers.

PubMed

Lopes, Maria S; Mendonça, Duarte; Bettencourt, Sílvia X; Borba, Ana R; Melo, Catarina; Baptista, Cláudio; da Câmara Machado, Artur

2014-06-26

Knowledge of the levels and distribution of genetic diversity is important for designing conservation strategies for threatened and endangered species so as to guarantee sustainable survival of populations and to preserve their evolutionary potential. Picconia azorica is a valuable Azorean endemic species recently classified as endangered. To contribute with information useful for the establishment of conservation programmes, the genetic variability and differentiation among 230 samples from 11 populations collected in three Azorean islands was accessed with eight inter-simple sequence repeat markers. A total of 64 polymorphic loci were detected. The majority of genetic variability was found within populations and no genetic structure was detected between populations and between islands. Also the coefficient of genetic differentiation and the level of gene flow indicate that geographical distances do not act as barriers for gene flow. In order to ensure the survival of populations in situ and ex situ management practices should be considered, including artificial propagation through the use of plant tissue culture techniques, not only for the restoration of habitat but also for the sustainable use of its valuable wood. Published by Oxford University Press on behalf of the Annals of Botany Company.

Introducing a quality improvement programme to primary healthcare teams

PubMed Central

Hearnshaw, H.; Reddish, S.; Carlyle, D.; Baker, R.; Robertson, N.

1998-01-01

OBJECTIVES: To evaluate a programme in which quality improvement was facilitated, based on principles of total quality management, in primary healthcare teams, and to determine its feasibility, acceptability, effectiveness, and the duration of its effect. METHOD: Primary healthcare teams in Leicestershire (n = 147) were invited to take part in the facilitated programme. The programme comprised seven team meetings, led by a researcher, plus up to two facilitated meetings of quality improvement subgroups, appointed by each team to consider specific quality issues. OUTCOME MEASURES: To assess the effect and feasibility of the programme on improving the quality of care provided, the individual quality improvement projects undertaken by the teams were documented and opportunities for improvement were noted at each session by the facilitator. The programme's acceptability was assessed with questionnaires issued in the final session to each participant. To assess the long term impact on teams, interviews with team members were conducted 3 years after the programme ended. RESULTS: 10 of the 27 teams that initially expressed interest in the programme agreed to take part, and six started the programme. Of these, five completed their quality improvement projects and used several different quality tools, and three completed all seven sessions of the programme. The programme was assessed as appropriate and acceptable by the participants. Three years later, the changes made during the programme were still in place in three of the six teams. Four teams had decided to undertake the local quality monitoring programme, resourced and supported by the Health Authority. CONCLUSIONS: The facilitated programme was feasible, acceptable, and effective for a few primary healthcare teams. The outcomes of the programme can be sustained. Research is needed on the characteristics of teams likely to be successful in the introduction and maintenance of quality improvement programmes. PMID:10339022

How to calculate the annual costs of NGO-implemented programmes to support orphans and vulnerable children: a six-step approach

PubMed Central

2011-01-01

Background Information on the costs of implementing programmes designed to provide support of orphans and vulnerable children (OVC) in sub-Saharan Africa and elsewhere is increasingly being requested by donors for programme evaluation purposes. To date, little information exists to document the costs and structure of costs of OVC programmes as actually implemented "on the ground" by local non-governmental organizations (NGOs). This analysis provides a practical, six-step approach that NGOs can incorporate into routine operations to evaluate their costs of implementing their OVC programmes annually. This approach is applied to the Community-Based Care for Orphans and Vulnerable Children (CBCO) Program implemented by BIDII (a Kenyan NGO) in Eastern Province of Kenya. Methods and results The costing methodology involves the following six steps: accessing and organizing the NGO's annual financial report into logical sub-categories; reorganizing the sub-categories into input cost categories to create a financial cost profile; estimating the annual equivalent payment for programme equipment; documenting donations to the NGO for programme implementation; including a portion of NGO organizational costs not attributed to specific programmes; and including the results of Steps 3-5 into an expanded cost profile. Detailed results are provided for the CBCO programme. Conclusions This paper shows through a concrete example how NGOs implementing OVC programmes (and other public health programmes) can organize themselves for data collection and documentation prospectively during the implementation of their OVC programmes so that costing analyses become routine practice to inform programme implementation rather than a painful and flawed retrospective activity. Such information is required if the costs and outcomes achieved by OVC programmes will ever be clearly documented and compared across OVC programmes and other types of programmes (prevention, treatment, etc.). PMID:22182588

How to calculate the annual costs of NGO-implemented programmes to support orphans and vulnerable children: a six-step approach.

PubMed

Larson, Bruce A; Wambua, Nancy

2011-12-19

Information on the costs of implementing programmes designed to provide support of orphans and vulnerable children (OVC) in sub-Saharan Africa and elsewhere is increasingly being requested by donors for programme evaluation purposes. To date, little information exists to document the costs and structure of costs of OVC programmes as actually implemented "on the ground" by local non-governmental organizations (NGOs). This analysis provides a practical, six-step approach that NGOs can incorporate into routine operations to evaluate their costs of implementing their OVC programmes annually. This approach is applied to the Community-Based Care for Orphans and Vulnerable Children (CBCO) Program implemented by BIDII (a Kenyan NGO) in Eastern Province of Kenya. The costing methodology involves the following six steps: accessing and organizing the NGO's annual financial report into logical sub-categories; reorganizing the sub-categories into input cost categories to create a financial cost profile; estimating the annual equivalent payment for programme equipment; documenting donations to the NGO for programme implementation; including a portion of NGO organizational costs not attributed to specific programmes; and including the results of Steps 3-5 into an expanded cost profile. Detailed results are provided for the CBCO programme. This paper shows through a concrete example how NGOs implementing OVC programmes (and other public health programmes) can organize themselves for data collection and documentation prospectively during the implementation of their OVC programmes so that costing analyses become routine practice to inform programme implementation rather than a painful and flawed retrospective activity. Such information is required if the costs and outcomes achieved by OVC programmes will ever be clearly documented and compared across OVC programmes and other types of programmes (prevention, treatment, etc.).

Do preschools differ in promoting children’s physical activity? An instrument for the assessment of preschool physical activity programmes

PubMed Central

2013-01-01

Background Preschools offer high potential for preventive interventions. However, little is known about the structure of preschool programmes to promote physical activity (PA) in preschoolers although almost all children aged three to six years spend one third of the day at preschool. The aim of this study was to determine whether and to what extent preschools implement systematic PA promotion measures using an instrument specifically developed to assess and systematize preschool PA programmes. Methods In the cross-sectional study a baseline survey of preschool education policies was conducted to identify and assess the type and extent of PA programmes and opportunities in preschools in the State of Lower Saxony, Germany. An assessment instrument was developed to identify preschools with systematic PA programmes (type 1) and those without PA programmes (type 2) based on the following quality criteria: A) written PA policy, B) structured weekly PA offerings for all children; C) at least one qualified physical education teacher; D) PA-friendly indoor and outdoor facilities (exercise room, situational PA opportunities, outdoor areas, play equipment etc.), and E) structured PA promotion in place for at least two years. A third type of preschool that promotes PA in children to some extent (i.e., that meets the criteria partially but not completely) was classified as “preschools with limited PA programmes”. Results 2415 preschools participated in the survey (response rate: 59%). The results show that 26% (n = 554) have a systematic PA programme while 3% (n = 64) have no PA programme. Most (71%, n = 1514) were classified as limited PA programme preschools. All three types of preschools differed significantly (p = .000) from each other in terms of size (small vs. large). Most of the preschools without PA programmes are small half-day preschools. Conclusions The study investigated an assessment-instrument providing extensive insight into the nature, extent and routine practical implementation of PA promotion in preschools. The criteria used to evaluate preschool PA programmes are well-suited to identify the different preschool PA programme types and target areas in the field of PA promotion in which specific measures (teacher education, structured PA offerings, etc.) can be implemented in future interventions. PMID:24005037

Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden.

PubMed

Benjamin, Caroline M; Anionwu, Elizabeth N; Kristoffersson, Ulf; ten Kate, Leo P; Plass, Anne Marie C; Nippert, Irmgard; Julian-Reynier, Claire; Harris, Hilary J; Schmidtke, Joerg; Challen, Kirsty; Calefato, Jean Marc; Waterman, Christine; Powell, Eileen; Harris, Rodney

2009-10-01

to investigate whether practising midwives are adequately prepared to integrate genetic information into their practice. a cross-sectional, postal, structured questionnaire survey was sent to practising midwives. practising midwives from the Netherlands (NL), Sweden (SE) and the United Kingdom (UK). 1021 replies were received, achieving a response rate of 62%. 79% (799/1015) of midwives reported attending courses with some 'genetic content' during their initial training. Sixty-eight per cent (533/784) judged this to have been useful for clinical practice. Variation was seen between countries in the amount of genetic content in post-registration training (SE 87%, NL 44%, UK 17%) and most was considered useful. Questions assessing clinical activity identified a current need for genetic knowledge. Midwives described low levels of self-reported confidence both in overtly genetic procedures and in everyday tasks that were underpinned by genetic knowledge. For eight of the 12 procedures, fewer than 20% of midwives considered themselves to be confident. Differences were apparent between countries. Midwives identified psychosocial, screening and risk assessment aspects of genetic education as being important to them, rather than technical aspects or genetic science. given the low reported confidence with genetic issues in clinical practice, it is essential that this is addressed in terms of the amount, content and targeting of genetic education. This is especially important to ensure the success of national antenatal and baby screening programmes. The results of this study suggest that midwives would welcome further training in genetics, addressing genetic topics most relevant to their clinical practice.

Genetic parameters for meat quality traits of Australian lamb meat.

PubMed

Mortimer, S I; van der Werf, J H J; Jacob, R H; Hopkins, D L; Pannier, L; Pearce, K L; Gardner, G E; Warner, R D; Geesink, G H; Edwards, J E Hocking; Ponnampalam, E N; Ball, A J; Gilmour, A R; Pethick, D W

2014-02-01

Genetic parameters were estimated for a range of meat quality traits recorded on Australian lamb meat. Data were collected from Merino and crossbred progeny of Merino, terminal and maternal meat breed sires of the Information Nucleus programme. Lambs born between 2007 and 2010 (n=8968) were slaughtered, these being the progeny of 372 sires and 5309 dams. Meat quality traits were found generally to be of moderate heritability (estimates between 0.15 and 0.30 for measures of meat tenderness, meat colour, polyunsaturated fat content, mineral content and muscle oxidative capacity), with notable exceptions of intramuscular fat (0.48), ultimate pH (0.08) and fresh meat colour a* (0.08) and b* (0.10) values. Genetic correlations between hot carcass weight and the meat quality traits were low. The genetic correlation between intramuscular fat and shear force was high (-0.62). Several measures of meat quality (fresh meat redness, retail meat redness, retail oxy/met value and iron content) appear to have potential for inclusion in meat sheep breeding objectives. © 2013.

A randomized controlled trial of a brief self-help coping intervention designed to reduce distress when awaiting genetic risk information.

PubMed

Bennett, Paul; Phelps, Ceri; Brain, Kate; Hood, Kerenza; Gray, Jonathon

2007-07-01

The aim of this study was to evaluate the effectiveness of a distraction-based coping leaflet in reducing distress in women undergoing genetic risk assessment for breast/ovarian cancer. One hundred sixty-two women participated in a randomized controlled trial, receiving either the intervention or standard information. Data were collected through a postal questionnaire at entry into a genetic risk assessment programme and 1 month later. Analysis of covariance revealed a nonsignificant reduction in distress in all women, and a significant reduction of distress among those with high baseline stress, who received the intervention. No gains were found among the control group. Measures of emotional response while thinking about cancer genetic assessment suggested these benefits were achieved in the absence of any rebound emotional response. The intervention offers a low-cost effective coping intervention, which could be integrated into existing services with minimal disruption and may also be appropriate for other periods of waiting and uncertainty.

Molecular genetics of dyslexia: an overview.

PubMed

Carrion-Castillo, Amaia; Franke, Barbara; Fisher, Simon E

2013-11-01

Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs. Copyright © 2013 John Wiley & Sons, Ltd.

Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia

PubMed Central

2009-01-01

Background Anopheles albimanus is an important malaria vector in some areas throughout its distribution in the Caribbean and the Pacific regions of Colombia, covering three biogeographic zones of the neotropical region, Maracaibo, Magdalena and Chocó. Methods This study was conducted to estimate intra-population genetic diversity, genetic differentiation and demographic history of An. albimanus populations because knowledge of vector population structure is a useful tool to guide malaria control programmes. Analyses were based on mtDNA COI gene sequences and four microsatellite loci of individuals collected in eight populations from the Caribbean and the Pacific regions of Colombia. Results Two distinctive groups were consistently detected corresponding to COI haplotypes from each region. A star-shaped statistical parsimony network, significant and unimodal mismatch distribution, and significant negative neutrality tests together suggest a past demographic expansion or a selective sweep in An. albimanus from the Caribbean coast approximately 21,994 years ago during the late Pleistocene. Overall moderate to low genetic differentiation was observed between populations within each region. However, a significant level of differentiation among the populations closer to Buenaventura in the Pacific region was observed. The isolation by distance model best explained genetic differentiation among the Caribbean region localities: Los Achiotes, Santa Rosa de Lima and Moñitos, but it could not explain the genetic differentiation observed between Turbo (Magdalena providence), and the Pacific region localities (Nuquí, Buenaventura, Tumaco). The patterns of differentiation in the populations from the different biogeographic provinces could not be entirely attributed to isolation by distance. Conclusion The data provide evidence for limited past gene flow between the Caribbean and the Pacific regions, as estimated by mtDNA sequences and current gene flow patterns among An. albimanus populations as measured by MS loci which may be mainly influenced by semi-permeable natural barriers in each biogeographical region that lead to the genetic differences and effective population sizes detected. The relatively high genetic differentiation in the port city of Buenaventura may be the result of specific ecological conditions, human migration and activities and/or differences in effective population sizes. This knowledge could serve to evaluate and coordinate vector control strategies in these regions of Colombia. PMID:19922672

Fostering transition to adulthood for young Australian males: an exploratory study of Men's Sheds' intergenerational mentoring programmes.

PubMed

Rahja, Miia; Scanlan, Justin Newton; Wilson, Nathan J; Cordier, Reinie

2016-06-01

Men's Sheds are community spaces where socialisation occurs alongside participation in meaningful activities. Shed activities and socialisation make them useful for supporting transition to adulthood of 'at-risk' young people through meaningful occupations. Many sheds have implemented intergenerational mentoring programmes. However, many programmes are established on an ad-hoc basis without specific attention to factors that may support effective and sustainable outcomes. We aimed to inform future programmes by exploring different programmes to provide insight into the purpose, design and programme characteristics that are perceived as beneficial for young males. Four Sydney-based sheds providing intergenerational mentoring programmes were selected. We interviewed shed coordinators, mentors and mentees to explore their perceptions of programme characteristics that supported mentees' transition to adulthood. Thematic analysis techniques were used to first analyse and understand the unique context of each programme and these were then merged and integrated to identify the most helpful aspects of these mentoring programmes. Mentor attitude towards the mentees, freedom to make independent choices and the nature and perceived usefulness of the project were considered the most significant characteristics of these programmes. This was the first known examination of the different characteristics of Men's Sheds intergenerational mentoring programmes. On the basis of our findings, we have made recommendations to help guide the planning and implementation of future programmes. While our findings largely support previous research on mentoring programmes, findings from this study suggest that 'expert skills' may not be as important as mentor attitude to working with the mentees. © 2016 Occupational Therapy Australia.

Estimating the actual subject-specific genetic correlations in behavior genetics.

PubMed

Molenaar, Peter C M

2012-10-01

Generalization of the standard behavior longitudinal genetic factor model for the analysis of interindividual phenotypic variation to a genetic state space model for the analysis of intraindividual variation enables the possibility to estimate subject-specific heritabilities.

Exploration of the Hypothalamic-Pituitary-Adrenal Axis to Improve Animal Welfare by Means of Genetic Selection: Lessons from the South African Merino.

PubMed

Hough, Denise; Swart, Pieter; Cloete, Schalk

2013-05-17

It is a difficult task to improve animal production by means of genetic selection, if the environment does not allow full expression of the animal's genetic potential. This concept may well be the future for animal welfare, because it highlights the need to incorporate traits related to production and robustness, simultaneously, to reach sustainable breeding goals. This review explores the identification of potential genetic markers for robustness within the hypothalamic-pituitary-adrenal axis (HPAA), since this axis plays a vital role in the stress response. If genetic selection for superior HPAA responses to stress is possible, then it ought to be possible to breed robust and easily managed genotypes that might be able to adapt to a wide range of environmental conditions whilst expressing a high production potential. This approach is explored in this review by means of lessons learnt from research on Merino sheep, which were divergently selected for their multiple rearing ability. These two selection lines have shown marked differences in reproduction, production and welfare, which makes this breeding programme ideal to investigate potential genetic markers of robustness. The HPAA function is explored in detail to elucidate where such genetic markers are likely to be found.

Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research.

PubMed

Viberg Johansson, Jennifer; Segerdahl, Pär; Ugander, Ulrika Hösterey; Hansson, Mats G; Langenskiöld, Sophie

2018-03-01

It is well known that research participants want to receive genetic risk information that is about high risks, serious diseases and potential preventive measures. The aim of this study was to explore, by qualitative means, something less well known: how do healthy research participants themselves make sense of genetic risk information? A phenomenographic approach was chosen to explore research participants' understanding and assessment of genetic risk. We conducted four focus-group (N=16) interviews with participants in a research programme designed to identify biomarkers for cardiopulmonary disease. Among the research participants, we found four ways of understanding genetic risk: as a binary concept, as an explanation, as revealing who I am (knowledge of oneself) and as affecting life ahead. Research participants tend to understand genetic risk as a binary concept. This does not necessarily imply a misunderstanding of, or an irrational approach to, genetic risk. Rather, it may have a heuristic function in decision-making. Risk communication may be enhanced by tailoring the communication to the participants' own lay conceptions. For example, researchers and counselors should address risk in binary terms, maybe looking out for how individual participants search for threshold figures. Copyright © 2017 Elsevier B.V. All rights reserved.

Disabling a Type I-E CRISPR-Cas Nuclease with a Bacteriophage-Encoded Anti-CRISPR Protein

PubMed Central

Shah, Megha; Mejdani, Marios; Calmettes, Charles; Moraes, Trevor F.

2017-01-01

ABSTRACT CRISPR (clustered regularly interspaced short palindromic repeat)-Cas adaptive immune systems are prevalent defense mechanisms in bacteria and archaea. They provide sequence-specific detection and neutralization of foreign nucleic acids such as bacteriophages and plasmids. One mechanism by which phages and other mobile genetic elements are able to overcome the CRISPR-Cas system is through the expression of anti-CRISPR proteins. Over 20 different families of anti-CRISPR proteins have been described, each of which inhibits a particular type of CRISPR-Cas system. In this work, we determined the structure of type I-E anti-CRISPR protein AcrE1 by X-ray crystallography. We show that AcrE1 binds to the CRISPR-associated helicase/nuclease Cas3 and that the C-terminal region of the anti-CRISPR protein is important for its inhibitory activity. We further show that AcrE1 can convert the endogenous type I-E CRISPR system into a programmable transcriptional repressor. PMID:29233895

Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?

PubMed Central

Berres, Marie-Luise; Merad, Miriam; Allen, Carl E.

2016-01-01

Summary Langerhans cell histiocytosis (LCH), the most common histiocytic disorder, is characterized by the accumulation of CD1A+/CD207+ mononuclear phagocytes within granulomatous lesions that can affect nearly all organ systems. Historically, LCH has been presumed to arise from transformed or pathologically activated epidermal dendritic cells called Langerhans cells. However, new evidence supports a model in which LCH occurs as a consequence of a misguided differentiation programme of myeloid dendritic cell precursors. Genetic, molecular and functional data implicate activation of the ERK signalling pathway at critical stages in myeloid differentiation as an essential and universal driver of LCH pathology. Based on these findings, we propose that LCH should be re-defined as an inflammatory myeloid neoplasia. Increased understanding of LCH pathogenesis will provide opportunities to optimize and personalize therapy through improved risk-stratification, targeted therapy and assessment of therapy response based on specific molecular features and origin of the pathological myeloid cells. PMID:25430560

Humoral and cellular immune response in Wistar Han RCC rats fed two genetically modified maize MON810 varieties for 90 days (EU 7th Framework Programme project GRACE).

PubMed

Tulinská, Jana; Adel-Patient, Karine; Bernard, Hervé; Líšková, Aurélia; Kuricová, Miroslava; Ilavská, Silvia; Horváthová, Mira; Kebis, Anton; Rollerová, Eva; Babincová, Júlia; Aláčová, Radka; Wal, Jean-Michel; Schmidt, Kerstin; Schmidtke, Jörg; Schmidt, Paul; Kohl, Christian; Wilhelm, Ralf; Schiemann, Joachim; Steinberg, Pablo

2018-07-01

The genetically modified maize event MON810 expresses a Bacillus thuringiensis-derived gene, which encodes the insecticidal protein Cry1Ab to control some lepidopteran insect pests such as the European corn borer. It has been claimed that the immune system may be affected following the oral/intragastric administration of the MON810 maize in various different animal species. In the frame of the EU-funded project GRACE, two 90-day feeding trials, the so-called studies D and E, were performed to analyze the humoral and cellular immune responses of male and female Wistar Han RCC rats fed the MON810 maize. A MON810 maize variety of Monsanto was used in the study D and a MON810 maize variety of Pioneer Hi-Bred was used in the study E. The total as well as the maize protein- and Cry1Ab-serum-specific IgG, IgM, IgA and IgE levels, the proliferative activity of the lymphocytes, the phagocytic activity of the granulocytes and monocytes, the respiratory burst of the phagocytes, a phenotypic analysis of spleen, thymus and lymph node cells as well as the in vitro production of cytokines by spleen cells were analyzed. No specific Cry1Ab immune response was observed in MON810 rats, and anti-maize protein antibody responses were similar in MON810 and control rats. Single parameters were sporadically altered in rats fed the MON810 maize when compared to control rats, but these alterations are considered to be of no immunotoxicological significance.

Epidemiology of Helicobacter pylori and CagA-Positive Infections and Global Variations in Gastric Cancer

PubMed Central

Forman, David; Crabtree, Jean E.

2018-01-01

Gastric cancer is a major health burden and is the fifth most common malignancy and the third most common cause of death from cancer worldwide. Development of gastric cancer involves several aspects, including host genetics, environmental factors, and Helicobacter pylori infection. There is increasing evidence from epidemiological studies of the association of H. pylori infection and specific virulence factors with gastric cancer. Studies in animal models indicate H. pylori is a primary factor in the development of gastric cancer. One major virulence factor in H. pylori is the cytotoxin-associated gene A (cagA), which encodes the CagA protein in the cag pathogenicity island (cag PAI). Meta-analysis of studies investigating CagA seropositivity irrespective of H. pylori status identified that CagA seropositivity increases the risk of gastric cancer (OR = 2.87, 95% CI: 1.95–4.22) relative to the risk of H. pylori infection alone (OR = 2.31, 95% CI: 1.58–3.39). Eradicating H. pylori is a strategy for reducing gastric cancer incidence. A meta-analysis of six randomised controlled trials (RCTs) suggests that searching for and eradicating H. pylori infection reduces the subsequent incidence of gastric cancer with a pooled relative risk of 0.66 (95% CI: 0.46–0.95). The introduction in regions of high gastric cancer incidence of population-based H. pylori screening and treatment programmes, with a scientifically valid assessment of programme processes, feasibility, effectiveness and possible adverse consequences, would impact the incidence of H. pylori-induced gastric cancer. Given the recent molecular understanding of the oncogenic role of CagA, targeting H. pylori screening and treatment programmes in populations with a high prevalence of H. pylori CagA-positive strains, particularly the more oncogenic East Asian H. pylori CagA strains, may be worth further investigation to optimise the benefits of such strategies. PMID:29671784

Microchip method for the enrichment of specific DNA sequences

DOEpatents

Mirzabekov, A.D.; Lysov, Y.P.; Shick, V.V.; Dubiley, S.A.

1998-12-22

A method for enriching specific genetic material sequences is provided, whereby oligonucleotide molecules complementary to the desired genetic material is first used to isolate the genetic material from a first source of genomic material. Then the genetic material is used as a label to isolate similar genetic sequences from other sources. 4 figs.

Microchip method for the enrichment of specific DNA sequences

DOEpatents

Mirzabekov, Andrei Darievich; Lysov, Yuri Petrovich; Shick, Valentine Vladimirovich; Dubiley, Svetlana Alekseevna

1998-01-01

A method for enriching specific genetic material sequences is provided, whereby oligonucleotide molecules complementary to the desired genetic material is first used to isolate the genetic material from a first source of genomic material. Then the genetic material is used as a label to isolate similar genetic sequences from other sources.

Acceptability and non-compliance in a family-led weight-management programme for obese Pacific children.

PubMed

Teevale, Tasileta; Taufa, Seini; Percival, Teuila

2015-10-01

To explore factors influencing participation and attrition in a family-led weight-management programme for obese Pacific children. Qualitative study used bilingual in-depth interviews at exit and end of an 8-week weight-management programme. New Zealand. Forty-two parents/primary caregivers of obese children who were randomised in the intervention weight-management programme. Programmatic factors that enhanced retention included: simultaneous delivery to both children and parents as participants; delivery of the programme in small group settings at local community venues; enabling trustworthy and accountable relationships; providing resources for travel to venues and regular telephone/text messaging follow-up calls reinforcing programme goals; and day and time scheduling. Suggested programme improvements included having ethnic-specific Island-language delivery and practical sessions like cooking classes and shopping expeditions at local food stores. The research found that unpredictable external life crises like extended family deaths, a change in job shift, family illnesses (both acute and those requiring chronic management) and long-term family visitations affected participation and momentum. A loss of momentum through managing life crises was often difficult to overcome for participants, leading them to drop out of the weight-management programme. Most drop-out participants preferred to defer their programme participation with hopes of re-committing to future programmes at another time. In order for weight-management programmes to be effective, participants must be able to complete them. Identifying factors that predict participation and attrition may serve as a basis for programme improvement.

Pathogenesis of autism: a patchwork of genetic causes

PubMed Central

Grigorenko, Elena L

2009-01-01

Autism spectrum disorders (ASDs) are relatively infrequent but are devastating developmental conditions characterized by marked deficiencies in social, communicative and other behavioral domains. It has been known for a substantial period of time that these disorders are genetic in nature. However, elucidating the specific mechanisms of these disorders has been difficult. A major reason for such difficulty is the recognized genetic heterogeneity of ASDs. Specifically, many genetic mechanisms related to structural variations in the genome have been reported as possible genetic causes of these disorders. This review briefly exemplifies these genetic mechanisms, presents a concise overview of the evidence for the genetic basis of ASDs and provides an appraisal of the specific structural genetic variants thought to contribute to the pathogenesis of these complex disorders. PMID:19953194

Overcoming barriers to effective early parenting interventions for attention-deficit hyperactivity disorder (ADHD): parent and practitioner views

PubMed Central

Smith, E; Koerting, J; Latter, S; Knowles, M M; McCann, D C; Thompson, M; Sonuga-Barke, E J

2015-01-01

Background The importance of early intervention approaches for the treatment of attention-deficit hyperactivity disorder (ADHD) has been increasingly acknowledged. Parenting programmes (PPs) are recommended for use with preschool children with ADHD. However, low ‘take-up’ and high ‘drop-out’ rates compromise the effectiveness of such programmes within the community. Methods This qualitative study examined the views of 25 parents and 18 practitioners regarding currently available PPs for preschool children with ADHD-type problems in the UK. Semi-structured interviews were undertaken to identify both barriers and facilitators associated with programme access, programme effectiveness, and continued engagement. Results and conclusions Many of the themes mirrored previous accounts relating to generic PPs for disruptive behaviour problems. There were also a number of ADHD-specific themes. Enhancing parental motivation to change parenting practice and providing an intervention that addresses the parents' own needs (e.g. in relation to self-confidence, depression or parental ADHD), in addition to those of the child, were considered of particular importance. Comparisons between the views of parents and practitioners highlighted a need to increase awareness of parental psychological barriers among practitioners and for better programme advertising generally. Clinical implications and specific recommendations drawn from these findings are discussed and presented. PMID:24814640

Overcoming barriers to effective early parenting interventions for attention-deficit hyperactivity disorder (ADHD): parent and practitioner views.

PubMed

Smith, E; Koerting, J; Latter, S; Knowles, M M; McCann, D C; Thompson, M; Sonuga-Barke, E J

2015-01-01

The importance of early intervention approaches for the treatment of attention-deficit hyperactivity disorder (ADHD) has been increasingly acknowledged. Parenting programmes (PPs) are recommended for use with preschool children with ADHD. However, low 'take-up' and high 'drop-out' rates compromise the effectiveness of such programmes within the community. This qualitative study examined the views of 25 parents and 18 practitioners regarding currently available PPs for preschool children with ADHD-type problems in the UK. Semi-structured interviews were undertaken to identify both barriers and facilitators associated with programme access, programme effectiveness, and continued engagement. Many of the themes mirrored previous accounts relating to generic PPs for disruptive behaviour problems. There were also a number of ADHD-specific themes. Enhancing parental motivation to change parenting practice and providing an intervention that addresses the parents' own needs (e.g. in relation to self-confidence, depression or parental ADHD), in addition to those of the child, were considered of particular importance. Comparisons between the views of parents and practitioners highlighted a need to increase awareness of parental psychological barriers among practitioners and for better programme advertising generally. Clinical implications and specific recommendations drawn from these findings are discussed and presented. © 2014 The Authors. Child: Care, Health and Development published by John Wiley & Sons Ltd.

Effectiveness of a workplace training programme in improving social, communication and emotional skills for adults with autism and intellectual disability in Hong Kong--a pilot study.

PubMed

Liu, Karen P Y; Wong, Denys; Chung, Anthony C Y; Kwok, Natalie; Lam, Madeleine K Y; Yuen, Cheri M C; Arblaster, Karen; Kwan, Aldous C S

2013-12-01

This pilot study explored the effectiveness of workplace training programme that aimed to enhance the work-related behaviours in individuals with autism and intellectual disabilities. Fourteen participants with autism and mild to moderate intellectual disability (mean age = 24.6 years) were recruited. The workplace training programme included practices in work context and group educational sessions. A pre-test-post-test design was used with the Work Personality Profile, the Scale of Independent Behaviour Revised and the Observational Emotional Inventory Revised to evaluate the targeted behaviours. Improvement in social and communication skills specific to the workplace was achieved. For emotional control, participants became less confused and had a better self-concept. However, improvement in other general emotional behaviours, such as impulse control, was limited. The results indicated that a structured workplace training programme aimed at improving social, communication and emotional behaviours can be helpful for people with autism and intellectual disability. Further study with a larger sample size and a control group is recommended. The development of specific programme to cater for the emotional control needs at workplace for people with autism is also suggested. Copyright © 2013 John Wiley & Sons, Ltd.

Genetic regulation of glucoraphanin accumulation in Beneforté broccoli.

PubMed

Traka, Maria H; Saha, Shikha; Huseby, Stine; Kopriva, Stanislav; Walley, Peter G; Barker, Guy C; Moore, Jonathan; Mero, Gene; van den Bosch, Frans; Constant, Howard; Kelly, Leo; Schepers, Hans; Boddupalli, Sekhar; Mithen, Richard F

2013-06-01

· Diets rich in broccoli (Brassica oleracea var italica) have been associated with maintenance of cardiovascular health and reduction in risk of cancer. These health benefits have been attributed to glucoraphanin that specifically accumulates in broccoli. The development of broccoli with enhanced concentrations of glucoraphanin may deliver greater health benefits. · Three high-glucoraphanin F1 broccoli hybrids were developed in independent programmes through genome introgression from the wild species Brassica villosa. Glucoraphanin and other metabolites were quantified in experimental field trials. Global SNP analyses quantified the differential extent of B. villosa introgression · The high-glucoraphanin broccoli hybrids contained 2.5-3 times the glucoraphanin content of standard hybrids due to enhanced sulphate assimilation and modifications in sulphur partitioning between sulphur-containing metabolites. All of the high-glucoraphanin hybrids possessed an introgressed B. villosa segment which contained a B. villosa Myb28 allele. Myb28 expression was increased in all of the high-glucoraphanin hybrids. Two high-glucoraphanin hybrids have been commercialised as Beneforté broccoli. · The study illustrates the translation of research on glucosinolate genetics from Arabidopsis to broccoli, the use of wild Brassica species to develop cultivars with potential consumer benefits, and the development of cultivars with contrasting concentrations of glucoraphanin for use in blinded human intervention studies. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

Testicular feminization in the Finnish racoon dog (Nyctereutes procyonoides).

PubMed

Smith, A; Nes, N; Berg, K A; Valtonen, M; Mäkinen, A; Lukola, A

1983-12-01

The clinical features of testicular feminization in the racoon dog (Nyctereutes procyonoides) are reported. The condition is characterized by a normal male karyotype, but a mixed phenotype consisting of vulva, enlarged clitoris and scrotal testes. Partial spermatogenesis with a relative arrest at the first meiotic division was observed. The likely underlying genetic defect and mode of inheritance are discussed, together with implications for breeding programmes.

Developing Materials for Biology Teaching. Asian Programme of Educational Innovation for Development (APEID) Report of a Sub-Regional Workshop (Bangkok, Thailand, August 3-12, 1981).

ERIC Educational Resources Information Center

United Nations Educational, Scientific, and Cultural Organization, Bangkok (Thailand). Regional Office for Education in Asia and the Pacific.

The major purposes of this workshop were to develop teaching and learning materials on certain selected key biology concepts relevant to environmental, genetic, and agricultural aspects, and to develop exemplary training materials on certain teacher competencies relating to laboratory and field techniques. Chapter One reports on the status and…

Birth of the School: Discursive Methodologies in Jazz Education

ERIC Educational Resources Information Center

Whyton, Tony

2006-01-01

Over recent years, jazz as an academic discipline has grown in volume and stature--indeed, jazz studies now plays a significant role in a number of higher education music programmes within the university and conservatoire sector. The proliferation of jazz education programmes has, inevitably, brought about the publication of specific pedagogical…

Sexual Health Promotion Programme: Participants' Perspectives on Capacity Building

ERIC Educational Resources Information Center

Keogh, Brian; Daly, Louise; Sharek, Danika; De Vries, Jan; McCann, Edward; Higgins, Agnes

2016-01-01

Objectives: The aim of this study was to evaluate a Health Service Executive (HSE) Foundation Programme in Sexual Health Promotion (FPSHP) with a specific emphasis on capacity building. Design: A mixed-method design using both quantitative and qualitative methods was used to collect the data. Setting: The FPSHP was delivered to staff working in…

An Innovative Supply Chain Management Programme Structure: Broadening the SCM Skill Set

ERIC Educational Resources Information Center

Okongwu, Uche

2007-01-01

This paper proposes a matrix structure for training Supply Chain Management (SCM) professionals. It is an innovative programme structure that combines two approaches: cross-border and inter-organisational. It enables the students to comprehend complex and specific business environments and to understand the diverse nature of SCM systems in both…

A Needs Analysis for a Discipline-Specific Reading Intervention

ERIC Educational Resources Information Center

Boakye, Naomi Adjoa Nana Yeboah; Mai, Magdaline Mbong

2016-01-01

This paper reports on a needs analysis that sought to explore students' reading challenges as an initial step in designing an appropriate reading intervention programme for first-year Sociology students. The aim of the paper is to suggest conditions for the production of an effective reading intervention programme by determining the needs of the…

Managing Risk in Producing Concerts and Other Major Campus Events: A Guide for Student Programmers.

ERIC Educational Resources Information Center

German, Carol J.

1999-01-01

Offers suggestions for campus-activities programmers on how to minimize liability for problems with concerts and other student-planned campus events. Discussion covers prevention of monetary loss, breach of contract issues, and preventing personal injuries and property damage. Specific preventive actions and policies are discussed. (MSE)

Why Do Small Enterprises Participate in a Programme for Competence Development?

ERIC Educational Resources Information Center

Kock, Henrik; Gill, Andreas; Ellstrom, Per Erik

2008-01-01

Purpose: The purpose of this paper is to increase our understanding of why firms, specifically small to medium-sized enterprises (SMEs), participate in a programme for competence development and why firms use different strategies for competence development. Design/methodology/approach: A study of 17 SMEs that all received support from the European…

Fostering Regimes of Truth: Understanding and Reflecting on the Freedom School Way

ERIC Educational Resources Information Center

Smith, Kersha

2010-01-01

The aim of the present paper is to investigate the inner workings of a North American summer enrichment programme named Freedom School. More specifically this research explores how participants of the Children's Defense Fund (CDF) Freedom School programme experience "the Freedom School way", an amalgam of ideologies, discourses, and behaviours…

Managing "Spoiled Identities": Parents' Experiences of Compulsory Parenting Support Programmes

ERIC Educational Resources Information Center

Holt, Amanda

2010-01-01

While recent years have seen a rapid growth of research exploring the usefulness of parenting support programmes, no empirical research to date has specifically explored experiences of compulsory parenting support. The present study examines the narrative accounts of 17 parents who, through a Parenting Order, were made to participate in such…

Student Views on Assessment Activities: Perspectives from Their Experience on an Undergraduate Programme

ERIC Educational Resources Information Center

Healy, Margaret; McCutcheon, Maeve; Doran, John

2014-01-01

Research on assessment activities has considered student responses to specific initiatives, but broader concerns underlying these responses have not been fully explored. Using a survey methodology, this paper explores how students view assessment activities, from the perspective of their experience on a four-year undergraduate programme,…

Marketing University Programmes in China: Innovative Experience in Executive and Professional Education

ERIC Educational Resources Information Center

Liu, Ning Rong; Crossley, Michael

2010-01-01

This article addresses the limited amount of research in the realm of programme marketing in the Chinese higher education sector. Original field research examines the emergence of marketing principles and strategies with specific reference to the experience of three higher education institutions in China. The development and promotion of executive…

Simulation of Population Processes with a Programmable Pocket Calculator.

ERIC Educational Resources Information Center

Kidd, N. A. C.

1979-01-01

Presents a set of simulation models for use in teaching population dynamics. These models are designed specifically for use with a programmable pocket calculator, and can be used to demonstrate growth of populations with discrete or overlapping generations and also to explore effects of density-dependent and -independent mortality. (Author/CS)

The Effects of Higher Education Programme Characteristics on the Allocation and Performance of the Graduates

ERIC Educational Resources Information Center

Heijke, Hans; Meng, Christoph

2011-01-01

Using a unique European data-set, we investigated the significance of five higher education programme characteristics for the labour market position of the graduates: the academic versus discipline-specific character of the competencies generated; the standardization of these competencies; the combination of working and learning; the…

Global Engineering Teams--A Programme Promoting Teamwork in Engineering Design and Manufacturing

ERIC Educational Resources Information Center

Oladiran, M. T.; Uziak, J.; Eisenberg, M.; Scheffer, C.

2011-01-01

Engineering graduates are expected to possess various competencies categorised into hard and soft skills. The hard skills are acquired through specific coursework, but the soft skills are often treated perfunctorily. Global Engineering Teams (GET) is a programme that promotes project-oriented tasks in virtual student teams working in collaboration…

The Winds of Change: Higher Education Management Programmes in Europe

ERIC Educational Resources Information Center

Pausits, Attila; Pellert, Ada

2009-01-01

Amid the Bologna Process and as a direct effect of it, European higher education institutions have to rethink their core institutional policies in order to effectively deal with the increasing demands and needs of their "customers" and society at large. The higher education management programmes across Europe, with some specific needs…

Entrepreneurship for Bioscience Researchers: A Case Study of an Entrepreneurship Programme

ERIC Educational Resources Information Center

Heinonen, Jarna; Poikkijoki, Sari-Anne; Vento-Vierikko, Irma

2007-01-01

Entrepreneurship is reaching new areas in which the concept of business is more or less unfamiliar and remote. This study focuses on a specific entrepreneurship education programme in the fields of chemistry, physics, information technology and bioinformatics, life sciences and medicine development. The aim is to gain a deeper understanding of the…

Addressing Plagiarism in Online Programmes at a Health Sciences University: A Case Study

ERIC Educational Resources Information Center

Ewing, Helen; Anast, Ade; Roehling, Tamara

2016-01-01

Plagiarism continues to be a concern for all educational institutions. To build a solid foundation for high academic standards and best practices at a graduate university, aspects of plagiarism were reviewed to develop better management processes for reducing plagiarism. Specifically, the prevalence of plagiarism and software programmes for…

Bottom-up implementation of disease-management programmes: results of a multisite comparison.

PubMed

Lemmens, K M M; Nieboer, A P; Rutten-Van Mölken, M P M H; van Schayck, C P; Spreeuwenberg, C; Asin, J D; Huijsman, R

2011-01-01

To evaluate the implementation of three regional disease-management programmes on chronic obstructive pulmonary disease (COPD) based on bottlenecks experienced in professional practice. The authors performed a multisite comparison of three Dutch regional disease-management programmes combining patient-related, professional-directed and organisational interventions. Process (Assessing Chronic Illness Care survey) and outcome (disease specific quality of life (clinical COPD questionnaire (CCQ); chronic respiratory questionnaire (CRQ)), Medical Research Council dyspnoea and patients' experiences) data were collected for 370 COPD patients and their care providers. Bottlenecks in region A were mostly related to patient involvement, in region B to organisational issues and in region C to both. Selected interventions related to identified bottlenecks were implemented in all programmes, except for patient-related interventions in programme A. Within programmes, significant improvements were found on dyspnoea and patients' experiences with practice nurses. Outcomes on quality of life differed between programmes: programme A did not show any significant improvements; programme B did show any significant improvements on CCQ total (p<0.001), functional (p=0.011) and symptom (p<0.001), CRQ fatigue (p<0.001) and emotional scales (p<0.001); in programme C, CCQ symptom (p<0.001) improved significantly, whereas CCQ mental score (p<0.001) deteriorated significantly. Regression analyses showed that programmes with better implementation of selected interventions resulted in relatively larger improvements in quality of life (CCQ). Bottom-up implementation of COPD disease-management programmes is a feasible approach, which in multiple settings leads to significant improvements in outcomes of care. Programmes with a better fit between implemented interventions and bottlenecks showed more positive changes in outcomes.

Hospital management training and improvement in managerial skills: Serbian experience.

PubMed

Supic, Zorica Terzic; Bjegovic, Vesna; Marinkovic, Jelena; Milicevic, Milena Santric; Vasic, Vladimir

2010-06-01

The purpose of this study was to analyze the improvement of managerial skills of hospitals' top managers after a specific management training programme, and to explore possible predictors and relations. The study was conducted during the years 2006 and 2007 with cohort of 107 managers from 20 Serbian general hospitals. The managers self-assessed the improvement in their managerial skills before and after the training programme. After the training programme, all managers' skills had improved. The biggest improvement was in the following skills: organizing daily activities, motivating and guiding others, supervising the work of others, group discussion, and situation analysis. The least improved were: applying creative techniques, working well with peers, professional self-development, written communication, and operational planning. Identified predictors of improvement were: shorter years of managerial experience, type of manager, type of profession, and recognizing the importance of the managerial skills in oral communication, evidence-based decision making, and supervising the work of others. Specific training programme related to strategic management can increase managerial competencies, which are an important source of competitive advantage for organizations. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

The effect of a 3-month supervised exercise programme on gait parameters of patients with peripheral arterial disease and intermittent claudication.

PubMed

King, Stephanie; Vanicek, Natalie; Mockford, Katherine A; Coughlin, Patrick A

2012-10-01

The management of peripheral arterial disease with intermittent claudication includes angioplasty, pharmaceutical therapy, risk factor modification and exercise therapy. Supervised exercise programmes are used sporadically but may improve the distance that an individual with claudication can walk. The purpose of this study was to evaluate the effectiveness of a 3-month supervised exercise programme on improving gait parameters in patients with intermittent claudication. 12 participants were recruited (mean (SD) - age: 67.3 (6.8) years, height: 1.67 (0.09) m, mass: 79.4 (14.0) kg, ankle brachial pressure index: 0.73 (0.17)) from the local vascular unit and enrolled in a supervised exercise programme. Kinematic and kinetic data were collected at the following time points: pain-free walking, initial claudication pain, absolute claudication pain and after a patient-defined rest period. Data were collected before and after the 3-month supervised exercise programme. No significant differences were found in any of the gait parameters post-intervention including pain-free walking speed (P=0.274), peak hip extension (P=0.125), peak ankle plantarflexion (P=0.254), or first vertical ground reaction force peak (P=0.654). No significant gait differences were found across different levels of pain pre- or post-intervention. The lack of improvement post-intervention observed suggests that the current exercise protocol was not tailored to elicit significant improvements in patients with intermittent claudication, specifically. The results indicate that exercise programmes may show improved results post-intervention if they are longer in duration and varied in intensity. Further research into more detailed muscle and biomechanical adaptations is needed to inform exercise programmes specific to this population. Copyright © 2012 Elsevier Ltd. All rights reserved.

Increasing leadership capacity for HIV/AIDS programmes by strengthening public health epidemiology and management training in Zimbabwe

PubMed Central

Jones, Donna S; Tshimanga, Mufuta; Woelk, Godfrey; Nsubuga, Peter; Sunderland, Nadine L; Hader, Shannon L; St Louis, Michael E

2009-01-01

Background Increased funding for global human immunodeficiency virus prevention and control in developing countries has created both a challenge and an opportunity for achieving long-term global health goals. This paper describes a programme in Zimbabwe aimed at responding more effectively to the HIV/AIDS epidemic by reinforcing a critical competence-based training institution and producing public health leaders. Methods The programme used new HIV/AIDS programme-specific funds to build on the assets of a local education institution to strengthen and expand the general public health leadership capacity in Zimbabwe, simultaneously ensuring that they were trained in HIV interventions. Results The programme increased both numbers of graduates and retention of faculty. The expanded HIV/AIDS curriculum was associated with a substantial increase in trainee projects related to HIV. The increased number of public health professionals has led to a number of practically trained persons working in public health leadership positions in the ministry, including in HIV/AIDS programmes. Conclusion Investment of a modest proportion of new HIV/AIDS resources in targeted public health leadership training programmes can assist in building capacity to lead and manage national HIV and other public health programmes. PMID:19664268

Plant breeding can be made more efficient by having fewer, better crosses.

PubMed

Witcombe, John R; Gyawali, Sanjaya; Subedi, Madhu; Virk, Daljit S; Joshi, Krishna D

2013-02-07

Crop yields have to increase to provide food security for the world's growing population. To achieve these yield increases there will have to be a significant contribution from genetic gains made by conventional plant breeding. However, the breeding process is not efficient because crosses made between parental combinations that fail to produce useful varieties consume over 99% of the resources. We tested in a rice-breeding programme if its efficiency could be improved by using many fewer, but more judiciously chosen crosses than usual. In a 15-year programme in Nepal, with varietal testing also in India and Bangladesh, we made only six crosses that were stringently chosen on complementary parental performance. We evaluated their success by the adoption and official release of the varieties they produced. We then modelled optimum cross number using assumptions based on our experimental results.Four of the six crosses succeeded. This was a fifty-fold improvement over breeding programmes that employ many crosses where only about one, or fewer, crosses in 200 succeed. Based on these results, we modelled the optimum number of crosses by assuming there would be a decline in the reliability of the breeder's prediction of the value of each cross as more crosses were made (because there is progressively less information on the traits of the parents). Fewer-cross programmes were more likely to succeed and did so using fewer resources. Making more crosses reduced the overall probability of success of the breeding programme. The efficiency of national and international breeding programmes would be increased by making fewer crosses among more carefully chosen parents. This would increase the number of higher yielding varieties that are delivered to farmers and hence help to improve food security.

Plant breeding can be made more efficient by having fewer, better crosses

PubMed Central

2013-01-01

Background Crop yields have to increase to provide food security for the world’s growing population. To achieve these yield increases there will have to be a significant contribution from genetic gains made by conventional plant breeding. However, the breeding process is not efficient because crosses made between parental combinations that fail to produce useful varieties consume over 99% of the resources. Results We tested in a rice-breeding programme if its efficiency could be improved by using many fewer, but more judiciously chosen crosses than usual. In a 15-year programme in Nepal, with varietal testing also in India and Bangladesh, we made only six crosses that were stringently chosen on complementary parental performance. We evaluated their success by the adoption and official release of the varieties they produced. We then modelled optimum cross number using assumptions based on our experimental results. Four of the six crosses succeeded. This was a fifty-fold improvement over breeding programmes that employ many crosses where only about one, or fewer, crosses in 200 succeed. Based on these results, we modelled the optimum number of crosses by assuming there would be a decline in the reliability of the breeder’s prediction of the value of each cross as more crosses were made (because there is progressively less information on the traits of the parents). Fewer-cross programmes were more likely to succeed and did so using fewer resources. Making more crosses reduced the overall probability of success of the breeding programme. Conclusions The efficiency of national and international breeding programmes would be increased by making fewer crosses among more carefully chosen parents. This would increase the number of higher yielding varieties that are delivered to farmers and hence help to improve food security. PMID:23391262

A novel mentorship programme for residents integrating academic development, clinical teaching and graduate medical education assessment.

PubMed

Bhatia, Kriti; Takayesu, James Kimo; Nadel, Eric S

2016-02-01

Mentorship fosters career development and growth. During residency training, mentorship should support clinical development along with intellectual and academic interests. Reported resident mentoring programmes do not typically include clinical components. We designed a programme that combines academic development with clinical feedback and assessment in a four-year emergency medicine residency programme. Incoming interns were assigned an advisor. At the conclusion of the intern year, residents actively participated in selecting a mentor for the duration of residency. The programme consisted of quarterly meetings, direct clinical observation and specific competency assessment, assistance with lecture preparation, real-time feedback on presentations, simulation coaching sessions, and discussions related to career development. Faculty participation was recognized as a valuable component of the annual review process. Residents were surveyed about the overall programme and individual components. Over 88 % of the respondents said that the programme was valuable and should be continued. Senior residents most valued the quarterly meetings and presentation help and feedback. Junior residents strongly valued the clinical observation and simulation sessions. A comprehensive mentorship programme integrating clinical, professional and academic development provides residents individualized feedback and coaching and is valued by trainees. Individualized assessment of clinical competencies can be conducted through such a programme.

Transforming a municipal school sports programme through a critical communicative methodology: The role of the of advisory committee.

PubMed

Jiménez-Herranz, Borja; Manrique-Arribas, Juan C; López-Pastor, Víctor M; García-Bengoechea, Enrique

2016-10-01

This research applies a communicative methodology (CM) to the transformation and improvement of the Municipal Comprehensive School Sports Programme in Segovia, Spain (MCSSP), using egalitarian dialogue, based on validity rather than power claims to achieve intersubjectivity and arrive at consensus between all of the Programme's stakeholders through the intervention of an advisory committee (AC). The AC is a body comprising representatives of all stakeholder groups involved in the programme. During the 2013-2014 academic year the programme's AC met four times, operating as a communicative focus group (CFG). The meetings focused on: (1) excluding dimensions (barriers preventing transformation) and transforming dimensions (ways of overcoming barriers), (2) the programme's strengths, (3) the programme's weaknesses and specific actions to remedy them, and (4) the resulting conclusions which were then incorporated into the subsequent programme contract signed between the University and the Segovia Local Authority for 2014-2018. The key conclusions were: (1) the recommendations of the AC widen the range of perspectives and help the research team to make key decisions and (2) the use of CM to fully evaluate the programme and to reach a consensus on how to improve it proved very valuable. Copyright © 2016 Elsevier Ltd. All rights reserved.

Situational analysis of infant and young child nutrition policies and programmatic activities in Niger.

PubMed

Wuehler, Sara E; Biga Hassoumi, Abdoulazize

2011-04-01

Due to limited progress towards reducing mortality and malnutrition among children <5 years of age, an alliance of international agencies joined to 'Reposition children's right to adequate nutrition in the Sahel,' starting with a situational analysis of current activities related to infant and young child nutrition (IYCN). The main objectives of this analysis are to compile, analyse, and interpret available information on infant and child feeding and the nutrition situation of children <2 years of age in Niger, as one of the six targeted countries. Between August and November 2008, key informants responsible for conducting IYCN-related activities in Niger were interviewed, and 90 documents were examined on: optimal breastfeeding and complementary feeding practices, prevention of micronutrient deficiencies, prevention of mother-to-child transmission of HIV, management of acute malnutrition, food security, and hygienic practices. The results reported are limited by the availability of documents for review. Mortality rates are on track to reaching the Millennium Development Goal to reduce mortality among young children by two-thirds by 2015, but there has been no change in undernutrition, and total mortality rates are still high among young children. Nearly all of the key IYCN topics were addressed, specifically or generally, in national policy documents, training materials, and programmes. A national nutrition council meets regularly to coordinate programme activities nationally. Many of the IYCN-related programmes are intended for national coverage, but few reach this coverage. Monitoring and impact evaluations were conducted on some programmes, but few of these reported on whether the specific IYCN components of the programme were implemented as designed or compared outcomes with non-intervention sites. Human resources have been identified as inadequate to fully carry out nutrition programmes in Niger. Due to these limitations, we could not confirm whether the lack of progress in reducing malnutrition was due to ineffective or inadequately implemented programmes, though both of these were likely contributors. The policy framework is well established for the promotion of optimal IYCN practices, but greater resources and capacity building are needed to: (i) increase human capacities to carry out nutrition programmes; (ii) expand and track the implementation of evidence-based programmes nationally; (iii) improve and carry out monitoring and evaluation that identify effective and ineffective programmes; and (iv) apply these findings in developing, expanding, and improving effective programmes. © 2011 Blackwell Publishing Ltd.

How can systems engineering inform the methods of programme evaluation in health professions education?

PubMed

Rojas, David; Grierson, Lawrence; Mylopoulos, Maria; Trbovich, Patricia; Bagli, Darius; Brydges, Ryan

2018-04-01

We evaluate programmes in health professions education (HPE) to determine their effectiveness and value. Programme evaluation has evolved from use of reductionist frameworks to those addressing the complex interactions between programme factors. Researchers in HPE have recently suggested a 'holistic programme evaluation' aiming to better describe and understand the implications of 'emergent processes and outcomes'. We propose a programme evaluation framework informed by principles and tools from systems engineering. Systems engineers conceptualise complexity and emergent elements in unique ways that may complement and extend contemporary programme evaluations in HPE. We demonstrate how the abstract decomposition space (ADS), an engineering knowledge elicitation tool, provides the foundation for a systems engineering informed programme evaluation designed to capture both planned and emergent programme elements. We translate the ADS tool to use education-oriented language, and describe how evaluators can use it to create a programme-specific ADS through iterative refinement. We provide a conceptualisation of emergent elements and an equation that evaluators can use to identify the emergent elements in their programme. Using our framework, evaluators can analyse programmes not as isolated units with planned processes and planned outcomes, but as unfolding, complex interactive systems that will exhibit emergent processes and emergent outcomes. Subsequent analysis of these emergent elements will inform the evaluator as they seek to optimise and improve the programme. Our proposed systems engineering informed programme evaluation framework provides principles and tools for analysing the implications of planned and emergent elements, as well as their potential interactions. We acknowledge that our framework is preliminary and will require application and constant refinement. We suggest that our framework will also advance our understanding of the construct of 'emergence' in HPE research. © 2017 John Wiley & Sons Ltd and The Association for the Study of Medical Education.

Evidence of behaviour change following a hygiene promotion programme in Burkina Faso.

PubMed Central

Curtis, V.; Kanki, B.; Cousens, S.; Diallo, I.; Kpozehouen, A.; Sangaré, M.; Nikiema, M.

2001-01-01

OBJECTIVES: To determine whether a large, 3-year hygiene promotion programme in Bobo-Dioulasso, Burkina Faso, was effective in changing behaviours associated with the spread of diarrhoeal diseases. The programme was tailored to local customs, targeted specific types of behaviour, built on existing motivation for hygiene, and used locally appropriate channels of communication. METHODS: Two population surveys recorded the coverage of the programme among target audiences (mothers of children aged 0-35 months). Four surveys were carried out: three prior to the programme and one in 1998 (after the programme had been running for 3 years), using structured observation of hygiene behaviours in the participants' homes to document changes in target behaviours. FINDINGS: After the programme had run for 3 years, three-quarters of the mothers targeted had had contact with programme activities. Half could cite the two main messages of the programme correctly. Although the safe disposal of children's stools changed little between 1995 and 1998 (80% pre-intervention, 84% post-intervention), hand-washing with soap after cleaning a child's bottom rose from 13% to 31%. The proportion of mothers who washed their hands with soap after using the latrine increased from 1% to 17%. CONCLUSION: Hygiene promotion programmes can change behaviour and are more likely to be effective if they are built on local research and use locally appropriate channels of communication repeatedly and for an extended time. PMID:11436473

Factors influencing participation in cardiac rehabilitation programmes after referral and initial attendance: qualitative systematic review and meta-synthesis.

PubMed

Clark, Alexander M; King-Shier, Kathryn M; Spaling, Melisa A; Duncan, Amanda S; Stone, James A; Jaglal, Susan B; Thompson, David R; Angus, Jan E

2013-10-01

Greater participation in cardiac rehabilitation improves morbidity and mortality in people with coronary heart disease, but little is understood of patients' decisions to participate. To develop interventions aimed at increasing completion of programmes, we conducted a qualitative systematic review and meta-synthesis to explore the complex factors and processes influencing participation in cardiac rehabilitation programmes after referral and initial access. To be included in the review, studies had to contain a qualitative research component, population specific data on programme participation in adults >18 years, and be published ≥1995 as full articles or theses. Ten databases were searched (31 October 2011) using 100+ search terms. Of 2264 citations identified, 62 studies were included involving: 1646 patients (57% female; mean age 64.2), 143 caregivers, and 79 professionals. Patients' participation was most strongly influenced by perceptions of the nature, suitability and scheduling of programmes, social comparisons made possible by programmes, and the degree to which programmes, providers, and programme users met expectations. Women's experiences of these factors rendered them less likely to complete. Comparatively, perceptions of programme benefits had little influence on participation. Factors reducing participation in programmes are varied but amenable to intervention. Participation should be viewed as a 'consumer behaviour' and interventions should mobilize family support, promote 'patient friendly' scheduling, and actively harness the social, identity-related, and experiential aspects of participation.

[Sexual and reproductive health in Roma women: the family planning programme of Polígono Sur in Seville (Spain)].

PubMed

Escobar-Ballesta, Marta; García-Ramírez, Manuel; Albar-Marín, M ª Jesús; Paloma, Virginia

2018-04-05

To describe the challenges, resources and strategies of the staff of the family planning programme of the Polígono Sur Healthcare Centre in Seville (Spain) in their care of Roma women. This is a descriptive study in which in-depth interviews and discussion groups were held with all programme professionals, including a documentary review of the programme. The information was analyzed based on the Roma Health Integration Policy Index, a tool that evaluates the entitlement, accessibility, sensitivity and capacity for change of health programmes for the Roma population. The professionals encountered multiple challenges to implement the family planning programme with Roma women due to the characteristics of the users and the low sensitivity of the programme towards them. The absence of specific actions for Roma women within the family planning programme, agreed to by the healthcare district, obliges professionals to develop adaptations and strategies to ensure quality sexual and reproductive health services for their users. It is necessary to adapt sexual and reproductive health programmes targeted at Roma women by (a) detecting, evaluating, systematizing and disseminating good practices, (b) developing actions that address the multiple vulnerabilities of Roma women, (c) acknowledging professionals who advocate for the health of these women within their organizations, and (d) promoting reproductive justice as the goal of these programmes. Copyright © 2018 SESPAS. All rights reserved.

Target Discovery for Precision Medicine Using High-Throughput Genome Engineering.

PubMed

Guo, Xinyi; Chitale, Poonam; Sanjana, Neville E

2017-01-01

Over the past few years, programmable RNA-guided nucleases such as the CRISPR/Cas9 system have ushered in a new era of precision genome editing in diverse model systems and in human cells. Functional screens using large libraries of RNA guides can interrogate a large hypothesis space to pinpoint particular genes and genetic elements involved in fundamental biological processes and disease-relevant phenotypes. Here, we review recent high-throughput CRISPR screens (e.g. loss-of-function, gain-of-function, and targeting noncoding elements) and highlight their potential for uncovering novel therapeutic targets, such as those involved in cancer resistance to small molecular drugs and immunotherapies, tumor evolution, infectious disease, inborn genetic disorders, and other therapeutic challenges.

Genetically Programmable Thermoresponsive Plasmonic Gold/Silk-Elastin Protein Core/Shell Nanoparticles

PubMed Central

2015-01-01

The design and development of future molecular photonic/electronic systems pose the challenge of integrating functional molecular building blocks in a controlled, tunable, and reproducible manner. The modular nature and fidelity of the biosynthesis method provides a unique chemistry approach to one-pot synthesis of environmental factor-responsive chimeric proteins capable of energy conversion between the desired forms. In this work, facile tuning of dynamic thermal response in plasmonic nanoparticles was facilitated by genetic engineering of the structure, size, and self-assembly of the shell silk-elastin-like protein polymers (SELPs). Recombinant DNA techniques were implemented to synthesize a new family of SELPs, S4E8Gs, with amino acid repeats of [(GVGVP)4(GGGVP)(GVGVP)3(GAGAGS)4] and tunable molecular weight. The temperature-reversible conformational switching between the hydrophilic random coils and the hydrophobic β-turns in the elastin blocks were programmed to between 50 and 60 °C by site-specific glycine mutation, as confirmed by variable-temperature proton NMR and circular dichroism (CD) spectroscopy, to trigger the nanoparticle aggregation. The dynamic self-aggregation/disaggregation of the Au-SELPs nanoparticles was regulated in size and pattern by the β-sheet-forming, thermally stable silk blocks, as revealed by transmission electron microscopy (TEM) and dynamic light scattering (DLS). The thermally reversible, shell dimension dependent, interparticle plasmon coupling was investigated by both variable-temperature UV–vis spectroscopy and finite-difference time-domain (FDTD)-based simulations. Good agreement between the calculated and measured spectra sheds light on design and synthesis of responsive plasmonic nanostructures by independently tuning the refractive index and size of the SELPs through genetic engineering. PMID:24712906

Race, consanguinity and social features in Birmingham babies: a basis for prospective study.

PubMed Central

Bundey, S; Alam, H; Kaur, A; Mir, S; Lancashire, R J

1990-01-01

STUDY OBJECTIVE--The aim of the study was to investigate the influence of consanguinity on children's health. DESIGN--The study is a prospective survey from birth to five years of a cohort of babies born in a multiracial community. This report details the initial findings on consanguinity. SETTING--Participating families live predominantly in three health districts of Birmingham, and were recruited in three local maternity hospitals. PARTICIPANTS--Babies of 2432 European mothers, 509 Afro-Caribbean mothers, 625 Indian mothers, 956 Pakistani mothers, and 216 Bangladeshi mothers have been enrolled in the study. Eighty mothers refused to participate. MEASUREMENTS AND RESULTS--Sociodemographic information was obtained using a structured questionnaire administered at interview. Interview data were supplemented with obstetric information from the medical records. The highest prevalence of parental consanguinity was in Pakistani Muslims (69%), whereas in Muslims from other countries it was 23%, and it was less than 1% in non-Muslims. In the majority of consanguineous Muslim pedigrees the degree of inbreeding was greater than that for first cousin parents. CONCLUSIONS--This prospective study will allow an assessment to be made about any ill health in childhood arising from parental consanguinity, about whether screening programmes are indicated for particular autosomal recessive diseases, and about whether premarital health education might be beneficial. The study has also documented parental ages in different races and this, together with the levels of parental consanguinity in all races, will be useful in genetic methods for assessing the frequency of recessive genes, the possibility of genetic heterogeneity, and whether or not parental age effect exists for new mutations of specific genetic disorders. PMID:2370500

Thirty-year experience in preventing haemoglobinopathies in Greece: achievements and potentials for optimisation.

PubMed

Ladis, Vassilis; Karagiorga-Lagana, Markissia; Tsatra, Ioanna; Chouliaras, Giorgos

2013-04-01

Beta thalassaemia major (β-TM) and sickle-cell disease (SCD) are severe haemogobinopathies requiring life-lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in Greece during the last 30 yrs. Data of affected births between 01/01/1980 and 31/12/2009 were collected in a nationwide scale, and expected vs. observed rates of new births were calculated and compared. In a subpopulation of affected births of Greek origin, the causes for occurrence of the new affected birth were also collected and analysed. Overall, the reduction in new cases was 81.1% and 84.6% for β-TM and SCD, respectively. For β-TM, a constant declining trend was recorded over the 30-yr period, whereas for SCD, a transient reversal was observed in the mid-1990s probably due to the significant influx of immigrants of African origin. Programme failure was 2.2 times more common among new β-TM births of Greek origin compared to new SCD cases (P < 0.001). Unawareness and parental choice were more frequent in SCD compared to β-TM (unawareness: OR = 1.4, P = 0.05, parental choice: OR = 1.9, P = 0.01). The main cause for programme failure was carrier misidentification and incorrect genetic advice for β-TM and SCD, respectively. The β-TM and SCD prevention programme in Greece has significantly reduced the numbers of new affected births. The outcomes could be optimised in groups of non-Greek origin, in carrier identification and by offering specialised genetic counselling. © 2013 John Wiley & Sons A/S.

A Digitally Programmable Cytomorphic Chip for Simulation of Arbitrary Biochemical Reaction Networks.

PubMed

Woo, Sung Sik; Kim, Jaewook; Sarpeshkar, Rahul

2018-04-01

Prior work has shown that compact analog circuits can faithfully represent and model fundamental biomolecular circuits via efficient log-domain cytomorphic transistor equivalents. Such circuits have emphasized basis functions that are dominant in genetic transcription and translation networks and deoxyribonucleic acid (DNA)-protein binding. Here, we report a system featuring digitally programmable 0.35 μm BiCMOS analog cytomorphic chips that enable arbitrary biochemical reaction networks to be exactly represented thus enabling compact and easy composition of protein networks as well. Since all biomolecular networks can be represented as chemical reaction networks, our protein networks also include the former genetic network circuits as a special case. The cytomorphic analog protein circuits use one fundamental association-dissociation-degradation building-block circuit that can be configured digitally to exactly represent any zeroth-, first-, and second-order reaction including loading, dynamics, nonlinearity, and interactions with other building-block circuits. To address a divergence issue caused by random variations in chip fabrication processes, we propose a unique way of performing computation based on total variables and conservation laws, which we instantiate at both the circuit and network levels. Thus, scalable systems that operate with finite error over infinite time can be built. We show how the building-block circuits can be composed to form various network topologies, such as cascade, fan-out, fan-in, loop, dimerization, or arbitrary networks using total variables. We demonstrate results from a system that combines interacting cytomorphic chips to simulate a cancer pathway and a glycolysis pathway. Both simulations are consistent with conventional software simulations. Our highly parallel digitally programmable analog cytomorphic systems can lead to a useful design, analysis, and simulation tool for studying arbitrary large-scale biological networks in systems and synthetic biology.

Report on the International Colloquium on Cardio-Oncology (Rome, 12–14 March 2014)

PubMed Central

Ewer, Michael; Gianni, Luca; Pane, Fabrizio; Sandri, Maria Teresa; Steiner, Rudolf K; Wojnowski, Leszek; Yeh, Edward T; Carver, Joseph R; Lipshultz, Steven E; Minotti, Giorgio; Armstrong, Gregory T; Cardinale, Daniela; Colan, Steven D; Darby, Sarah C; Force, Thomas L; Kremer, Leontien CM; Lenihan, Daniel J; Sallan, Stephen E; Sawyer, Douglas B; Suter, Thomas M; Swain, Sandra M; van Leeuwen, Flora E

2014-01-01

Cardio-oncology is a relatively new discipline that focuses on the cardiovascular sequelae of anti-tumour drugs. As any other young adolescent discipline, cardio-oncology struggles to define its scientific boundaries and to identify best standards of care for cancer patients or survivors at risk of cardiovascular events. The International Colloquium on Cardio-Oncology was held in Rome, Italy, 12–14 March 2014, with the aim of illuminating controversial issues and unmet needs in modern cardio-oncology. This colloquium embraced contributions from different kind of disciplines (oncology and cardiology but also paediatrics, geriatrics, genetics, and translational research); in fact, cardio-oncology goes way beyond the merging of cardiology with oncology. Moreover, the colloquium programme did not review cardiovascular toxicity from one drug or the other, rather it looked at patients as we see them in their fight against cancer and eventually returning to everyday life. This represents the melting pot in which anti-cancer therapies, genetic backgrounds, and risk factors conspire in producing cardiovascular sequelae, and this calls for screening programmes and well-designed platforms of collaboration between one key professional figure and another. The International Colloquium on Cardio-Oncology was promoted by the Menarini International Foundation and co-chaired by Giorgio Minotti (Rome), Joseph R Carver (Philadelphia, Pennsylvania, United States), and Steven E Lipshultz (Detroit, Michigan, United States). The programme was split into five sessions of broad investigational and clinical relevance (what is cardiotoxicity?, cardiotoxicity in children, adolescents, and young adults, cardiotoxicity in adults, cardiotoxicity in special populations, and the future of cardio-oncology). Here, the colloquium chairs and all the session chairs briefly summarised what was said at the colloquium. Topics and controversies were reported on behalf of all members of the working group of the International Colloquium on Cardio-Oncology. PMID:24932213

Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis.

PubMed

Padoan, R; Genoni, S; Moretti, E; Seia, M; Giunta, A; Corbetta, C

2002-01-01

A study was performed on the delayed diagnosis of cystic fibrosis (CF) in infants who had false-negative results in a neonatal screening programme. The genetic and clinical features of false-negative infants in this screening programme were assessed together with the efficiency of the screening procedure in the Lombardia region. In total, 774,687 newborns were screened using a two-step immunoreactive trypsinogen (IRT) (in the years 1990-1992), IRT/IRT + delF508 (1993-1998) or IRT/IRT + polymerase chain reaction (PCR) and oligonucleotide ligation assay (OLA) protocol (1998-1999). Out of 196 CF children born in the 10 y period 15 were false negative on screening (7.6%) and molecular analysis showed a high variability in the genotypes. The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R1066C, R334W, G542X, N1303K, F1052V, A120T, 3849 + 10kbC --> T, 2789 + 5G --> A, 5T-12TG and the novel mutation D110E. In three patients no mutation was identified after denaturing gradient gel electrophoresis of the majority of CFTR gene exons. The clinical phenotypes of CF children diagnosed by their symptoms at different ages were very mild. None of them presented with a severe lung disease. The majority of them did not seem to have been damaged by the delayed diagnosis. The combination of IRT assay plus genotype analysis (1998-1999) appears to be a more reliable method of detecting CF than IRT measurement alone or combined with only the delF508 mutation.

Development of sequence-specific antimicrobials based on programmable CRISPR-Cas nucleases

PubMed Central

Bikard, David; Euler, Chad; Jiang, Wenyan; Nussenzweig, Philip M.; Goldberg, Gregory W.; Duportet, Xavier; Fischetti, Vincent A.; Marraffini, Luciano A.

2014-01-01

Antibiotics target conserved bacterial cellular pathways or growth functions and therefore cannot selectively kill specific members of a complex microbial population. Here, we develop programmable, sequence-specific antimicrobials using the RNA-guided nuclease Cas91, 2 delivered by a bacteriophage. We show that Cas9 re-programmed to target virulence genes kills virulent, but not avirulent, Staphylococcus aureus. Re-programming the nuclease to target antibiotic resistance genes destroys staphylococcal plasmids that harbor antibiotic resistance genes3, 4 and immunizes avirulent staphylococci to prevent the spread of plasmid-borne resistance genes. We also demonstrate the approach in vivo, showing its efficacy against S. aureus in a mouse skin colonization model. This new technology creates opportunities to manipulate complex bacterial populations in a sequence-specific manner. PMID:25282355

An evaluation of the Parents Plus-Parenting When Separated programme.

PubMed

Keating, Adele; Sharry, John; Murphy, Michelle; Rooney, Brendan; Carr, Alan

2016-04-01

This study evaluated the Parents Plus-Parenting when Separated Programme, an intervention specifically designed to address the needs of separated parents in an Irish context. In a randomized control trial, 82 separated parents with young children were assigned to the Parents Plus-Parenting when Separated Programme treatment group and 79 to a waiting-list control group. They were assessed on measures of client goals, parenting satisfaction, child and parental adjustment and interparental conflict at baseline (Time 1) and 6 weeks later (Time 2), after the treatment group completed the Parents Plus-Parenting when Separated Programme. From Time 1 to 2, significant goal attainment, increases in parenting satisfaction and decreases in child behaviour problems, parental adjustment problems and interparental conflict occurred in the Parents Plus-Parenting when Separated Programme group, but not in the control group. These results supported the effectiveness of Parents Plus-Parenting when Separated Programme, which should be made more widely available to separated parents. © The Author(s) 2015.

Stated Uptake of Physical Activity Rewards Programmes Among Active and Insufficiently Active Full-Time Employees.

PubMed

Ozdemir, Semra; Bilger, Marcel; Finkelstein, Eric A

2017-10-01

Employers are increasingly relying on rewards programmes in an effort to promote greater levels of activity among employees; however, if enrolment in these programmes is dominated by active employees, then they are unlikely to be a good use of resources. This study uses a stated-preference survey to better understand who participates in rewards-based physical activity programmes, and to quantify stated uptake by active and insufficiently active employees. The survey was fielded to a national sample of 950 full-time employees in Singapore between 2012 and 2013. Participants were asked to choose between hypothetical rewards programmes that varied along key dimensions and whether or not they would join their preferred programme if given the opportunity. A mixed logit model was used to analyse the data and estimate predicted uptake for specific programmes. We then simulated employer payments based on predictions for the percentage of each type of employee likely to meet the activity goal. Stated uptake ranged from 31 to 67% of employees, depending on programme features. For each programme, approximately two-thirds of those likely to enrol were insufficiently active. Results showed that insufficiently active employees, who represent the majority, are attracted to rewards-based physical activity programmes, and at approximately the same rate as active employees, even when enrolment fees are required. This suggests that a programme with generous rewards and a modest enrolment fee may have strong employee support and be within the range of what employers may be willing to spend.

Communication of Information about Genetic Risks: Putting Families at the Center.

PubMed

Mendes, Álvaro; Metcalfe, Alison; Paneque, Milena; Sousa, Liliana; Clarke, Angus J; Sequeiros, Jorge

2017-07-16

Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress. Ethical requisites generally prevent healthcare professionals from directly contacting their consultands' relatives (affected or still at risk), who often feel unsupported throughout that process. We discuss here the communication of genetic risks to family members. We first consider genomic testing as a basis for family-centered health care, as opposed to a predominant focus on the individual. We reviewed the literature on sharing genetic risk information with family members, and the associated ethical issues for professionals. Some clinical cases are presented and discussed, and key issues for meeting the needs of individuals and families are addressed. We argue that genetic information is inextricably linked to the family and that communicating about genetic risks is a process grounded within the broader milieu of family relationships and functioning. We conclude for the need for a more family-centered approach and interventions that can promote sensitive attitudes to the provision of genetic information to and within the family, as well as its inclusion in educational and training programmes for genetic healthcare professionals. © 2017 Family Process Institute.

The cellular immune response of Daphnia magna under host-parasite genetic variation and variation in initial dose

PubMed Central

Auld, Stuart K. J. R; Edel, Kai H.; Little, Tom J.

2013-01-01

In invertebrate-parasite systems, the likelihood of infection following parasite exposure is often dependent on the specific combination of host and parasite genotypes (termed genetic specificity). Genetic specificity can maintain diversity in host and parasite populations and is a major component of the Red Queen hypothesis. However, invertebrate immune systems are thought to only distinguish between broad classes of parasite. Using a natural host-parasite system with a well-established pattern of genetic specificity, the crustacean Daphnia magna and its bacterial parasite Pasteuria ramosa, we found that only hosts from susceptible host-parasite genetic combinations mounted a cellular response following exposure to the parasite. These data are compatible with the hypothesis that genetic specificity is attributable to barrier defenses at the site of infection (the gut), and that the systemic immune response is general, reporting the number of parasite spores entering the hemocoel. Further supporting this, we found that larger cellular responses occurred at higher initial parasite doses. By studying the natural infection route, where parasites must pass barrier defenses before interacting with systemic immune responses, these data shed light on which components of invertebrate defense underlie genetic specificity. PMID:23025616

In vivo study of flow-rate accuracy of the MedStream Programmable Infusion System.

PubMed

Venugopalan, Ramakrishna; Ginggen, Alec; Bork, Toralf; Anderson, William; Buffen, Elaine

2011-01-01

  Flow-rate accuracy and precision are important parameters to optimizing the efficacy of programmable intrathecal (IT) infusion pump delivery systems. Current programmable IT pumps are accurate within ±14.5% of their programmed infusion rate when assessed under ideal environmental conditions and specific flow-rate settings in vitro. We assessed the flow-rate accuracy of a novel programmable pump system across its entire flow-rate range under typical conditions in sheep (in vivo) and nominal conditions in vitro.   The flow-rate accuracy of the MedStream Programmable Pump was assessed in both the in vivo and in vitro settings. In vivo flow-rate accuracy was assessed in 16 sheep at various flow-rates (producing 90 flow intervals) more than 90 ± 3 days. Pumps were then explanted, re-sterilized and in vitro flow-rate accuracy was assessed at 37°C and 1013 mBar (80 flow intervals).   In vivo (sheep body temperatures 38.1°C-39.8°C), mean ± SD flow-rate error was 9.32% ± 9.27% and mean ± SD leak-rate was 0.028 ± 0.08 mL/day. Following explantation, mean in vitro flow-rate error and leak-rate were -1.05% ± 2.55% and 0.003 ± 0.004 mL/day (37°C, 1013 mBar), respectively.   The MedStream Programmable Pump demonstrated high flow-rate accuracy when tested in vivo and in vitro at normal body temperature and environmental pressure as well as when tested in vivo at variable sheep body temperature. The flow-rate accuracy of the MedStream Programmable Pump across its flow-rate range, compares favorably to the accuracy of current clinically utilized programmable IT infusion pumps reported at specific flow-rate settings and conditions. © 2011 International Neuromodulation Society.

"Don't wait for them to come to you, you go to them". A qualitative study of recruitment approaches in community based walking programmes in the UK.

PubMed

Matthews, Anne; Brennan, Graham; Kelly, Paul; McAdam, Chloe; Mutrie, Nanette; Foster, Charles

2012-08-10

This study aimed to examine the experiences of walking promotion professionals on the range and effectiveness of recruitment strategies used within community based walking programmes within the United Kingdom. Two researchers recruited and conducted semi-structured interviews with managers and project co-ordinators of community based walking programmes, across the UK, using a purposive sampling frame. Twenty eight interviews were conducted, with community projects targeting participants by age, physical activity status, socio-demographic characteristics (i.e. ethnic group) or by health status. Three case studies were also conducted with programmes aiming to recruit priority groups and also demonstrating innovative recruitment methods. Data analysis adopted an approach using analytic induction. Two types of programmes were identified: those with explicit health aims and those without. Programme aims which required targeting of specific groups adopted more specific recruitment methods. The selection of recruitment method was dependent on the respondent's awareness of 'what works' and the resource capacity at their disposal. Word of mouth was perceived to be the most effective means of recruitment but using this approach took time and effort to build relationships with target groups, usually through a third party. Perceived effectiveness of recruitment was assessed by number of participants rather than numbers of the right participants. Some programmes, particularly those targeting younger adult participants, recruited using new social communication media. Where adopted, social marketing recruitment strategies tended to promote the 'social' rather than the 'health' benefits of walking. Effective walking programme recruitment seems to require trained, strategic, labour intensive, word-of-mouth communication, often in partnerships, in order to understand needs and develop trust and motivation within disengaged sedentary communities. Walking promotion professionals require better training and resources to deliver appropriate recruitment strategies to reach priority groups.

Genetic monitoring detects an overlooked cryptic species and reveals the diversity and distribution of three invasive Rattus congeners in south Africa

PubMed Central

2011-01-01

Background South Africa's long and extensive trade activity has ensured ample opportunities for exotic species introduction. Whereas the rich biodiversity of endemic southern African fauna has been the focus of many studies, invasive vertebrates are generally overlooked despite potential impacts on biodiversity, health and agriculture. Genetic monitoring of commensal rodents in South Africa which uncovered the presence of Rattus tanezumi, a South-East Asian endemic not previously known to occur in Africa, provided the impetus for expanded studies on all invasive Rattus species present. Results To this end, intensified sampling at 28 South African localities and at one site in Swaziland, identified 149 Rattus specimens. Cytochrome b gene sequencing revealed the presence of two R. tanezumi, seven Rattus rattus and five Rattus norvegicus haplotypes in south Africa. Phylogenetic results were consistent with a single, recent R. tanezumi introduction and indicated that R. norvegicus and R. rattus probably became established following at least two and three independent introductions, respectively. Intra- and inter-specific diversity was highest in informal human settlements, with all three species occurring at a single metropolitan township site. Rattus norvegicus and R. rattus each occurred sympatrically with Rattus tanezumi at one and five sites, respectively. Karyotyping of selected R. rattus and R. tanezumi individuals identified diploid numbers consistent with those reported previously for these cryptic species. Ordination of bioclimatic variables and MaxEnt ecological niche modelling confirmed that the bioclimatic niche occupied by R. tanezumi in south Africa was distinct from that occupied in its naturalised range in south-east Asia suggesting that factors other than climate may influence the distribution of this species. Conclusions This study has highlighted the value of genetic typing for detecting cryptic invasive species, providing historical insights into introductions and for directing future sampling. The apparent ease with which a cryptic species can become established signals the need for broader implementation of genetic monitoring programmes. In addition to providing baseline data and potentially identifying high-risk introduction routes, the predictive power of ecological niche modelling is enhanced when species records are genetically verified. PMID:21324204

Genetic diversity and population structure of an important wild berry crop

PubMed Central

Zoratti, Laura; Palmieri, Luisa; Jaakola, Laura; Häggman, Hely

2015-01-01

The success of plant breeding in the coming years will be associated with access to new sources of variation, which will include landraces and wild relatives of crop species. In order to access the reservoir of favourable alleles within wild germplasm, knowledge about the genetic diversity and the population structure of wild species is needed. Bilberry (Vaccinium myrtillus) is one of the most important wild crops growing in the forests of Northern European countries, noted for its nutritional properties and its beneficial effects on human health. Assessment of the genetic diversity of wild bilberry germplasm is needed for efforts such as in situ conservation, on-farm management and development of plant breeding programmes. However, to date, only a few local (small-scale) genetic studies of this species have been performed. We therefore conducted a study of genetic variability within 32 individual samples collected from different locations in Iceland, Norway, Sweden, Finland and Germany, and analysed genetic diversity among geographic groups. Four selected inter-simple sequence repeat primers allowed the amplification of 127 polymorphic loci which, based on analysis of variance, made it possible to identify 85 % of the genetic diversity within studied bilberry populations, being in agreement with the mixed-mating system of bilberry. Significant correlations were obtained between geographic and genetic distances for the entire set of samples. The analyses also highlighted the presence of a north–south genetic gradient, which is in accordance with recent findings on phenotypic traits of bilberry. PMID:26483325

A process evaluation of the 'Aware' and 'Supportive Communities' gambling harm-minimisation programmes in New Zealand.

PubMed

Kolandai-Matchett, Komathi; Bellringer, Maria; Landon, Jason; Abbott, Max

2018-04-01

The Gambling Act 2003 mandated a public health strategy for preventing and minimising gambling harm in New Zealand. Aware Communities and Supportive Communities are two public health programmes subsequently implemented nationwide. These programmes differed from common health promotion initiatives such as media or education campaigns as they were community-action based (requiring community involvement in programme planning and delivery). We carried out a process evaluation to determine their implementation effectiveness and inform improvement and future programme planning. Our qualitative dominant mixed methods design comprised analysis of over a hundred implementer progress reports (submitted July 2010 - June 2013), a staff survey and a staff focus group interview. The programmes demonstrated capacity to not only achieve expected outcomes (e.g. enhanced community awareness about harmful gambling), but also to enhance social sustainability at the community level (e.g. established trustful relationships) and achieve some programme sustainability (e.g. community ownership over ongoing programme delivery). The evaluation noted the potential for a sustainable gambling harm-minimisation model. Community-action based harm-minimisation programmes offer programme sustainability potential which in turn offers funding cost-effectiveness when there are continual public health outcomes beyond initial funding. Although resource intensive, the community-action based approach enables culturally appropriate public health programmes suitable for societies where specific ethnic groups have higher gambling risk. Recognition of such harm-minimisation programmes' contribution to social sustainability is important considering the potential for broader public health outcomes (e.g. better life quality, lesser social problems) within socially sustainable societies.

When Teaching and Volunteering Go Together: Exploring Participation Characteristics and Demographic Backgrounds of Senior Volunteer Teachers and Their Teaching Satisfaction

ERIC Educational Resources Information Center

Leung, D. D. M.

2016-01-01

Senior volunteer teachers play important roles in learning programmes for the elderly. These volunteers' level of teaching satisfaction was assumed to influence programmes, their organizational behaviours and outcomes. However, scant research has focused specifically on volunteers' levels of satisfaction with teaching and how their satisfaction is…

Reflections on Mainstreaming Gender Equality in Adult Basic Education Programmes

ERIC Educational Resources Information Center

Lind, Agneta

2006-01-01

This article is about mainstreaming gender equality in adult basic learning and education (ABLE). Gender equality is defined as equal rights of both women and men to influence, participate in and benefit from a programme. It is argued that specific gender analyses of emerging patterns of gender relations is helpful in formulating gender equality…

How Individualised Are the Individualised Education Programmes (IEPs): An Analysis of the Contents and Quality of the IEPs Goals

ERIC Educational Resources Information Center

Sanches-Ferreira, Manuela; Lopes-dos-Santos, Pedro; Alves, Sílvia; Santos, Miguel; Silveira-Maia, Mónica

2013-01-01

The Individualised Education Programme (IEP) is a fundamental document that describes all educational responses to the additional support needs of students, setting up the guideline for their learning and developmental experiences. Specifically, the IEP goals represent the personal destination translated into desirable behaviours and skills that…

Educational Policies/Programmes' Effect on Attrition Rates in Primary Schools in Nigeria

ERIC Educational Resources Information Center

Duze, Chinelo O.

2012-01-01

This paper examined attrition in primary schools in Nigeria with specific reference and focus on some policies and programmes of Nigeria's educational system with a view to highlighting its possible effect on the attainment of the Education for All (EFA) goals by 2015. It reviewed equal educational opportunity in relation to school environments…

Should I Go Or Should I Stay? A Study of Factors Influencing Students' Decisions on Early Leaving

ERIC Educational Resources Information Center

Glogowska, Margaret; Young, Pat; Lockyer, Lesley

2007-01-01

The article reports on selected findings from a multi-method research project on student retention on a nursing programme. Although the research identified some factors specific to the experiences of students on the particular programme, this article focuses on findings and recommendations of generic interest. The article compares data from…

Increasing Primary School Children's Fruit and Vegetable Consumption: A Review of the Food Dudes Programme

ERIC Educational Resources Information Center

Taylor, Charlotte; Upton, Penney; Upton, Dominic

2015-01-01

Purpose: The purpose of this paper is to evaluate the evidence base of the Food Dudes healthy eating programme, specifically the short- and long-term effectiveness of the intervention for consumption of fruit and vegetables both at school and at home and displacement of unhealthy snack consumption. Design/Methodology/Approach: Articles were…

Increases in Global and Domain Specific Self-Esteem Following a 10 Day Developmental Voyage

ERIC Educational Resources Information Center

Grocott, Andrew C.; Hunter, John A.

2009-01-01

Although positive effects are often reported, research assessing the impact of Adventure Education and Outward Bound programmes on self-esteem is fraught with methodological weaknesses pertaining to an emphasis on scales assessing global self-esteem, a lack of follow-up measures to assess the potential long-term benefits of such programmes and…

Mentoring the Next Researcher Generation: Reflections on Three Years of Building VET Research Capacity and Infrastructure

ERIC Educational Resources Information Center

Barratt-Pugh, Llandis Gareth

2012-01-01

During 2008-2011, the National Centre for Vocational Education Research (NCVER) funded a programme to build Australian VET research capacity and rejuvenate what has been seen as the existing "greying" researcher pool. This paper is a reflective narrative about experiences of constructing the programme with a specific focus on the…

Cultural Adaptations of the "Strengthening Families Programme 10-14" in the US Pacific Northwest: A Qualitative Evaluation

ERIC Educational Resources Information Center

Roulette, Jennifer W; Hill, Laura G; Diversi, Marcelo; Overath, Renee

2017-01-01

Objective: Most reports of adaptations to evidence-based prevention programmes for delivery to specific cultural groups describe formal adaptation procedures. In this paper, we report on how practitioners identify and manage issues of perceived cultural mismatch when delivering a scripted, evidence-based intervention. Design: We used grounded…

JPRS Report, Science & Technology, Europe & Latin America, Argentina: Specifications of ARGOS 380 MW Reactor.

DTIC Science & Technology

1988-02-18

programme. It has a licensing agreement with Siemens AG’s Kraftwerk Union AG, which is its minor shareholder. Under this agreement, ENACE has the...Argentine nuclear programme. It has a licensing agreement with Siemens AG’s Kraftwerk Union AG, which is its minor shareholder. Under this agreement, ENACE

E-Reflections: Comparative Exploration of the Role of e-learning in Training Higher Education Lecturers

ERIC Educational Resources Information Center

Churchill, Tony

2005-01-01

This paper provides an initial evaluation of data gathered by running versions of a five-week online programme called "e-Reflections". This includes comparisons with a course specifically for academics from (or working in) the Gulf and the wider Middle East Region. "e-Reflections" is an online programme developed at University…

Food and beverage cues in children's television programmes: the influence of programme genre.

PubMed

Scully, Paul; Reid, Orlaith; Macken, Alan; Healy, Mark; Saunders, Jean; Leddin, Des; Cullen, Walter; Dunne, Colum; O'Gorman, Clodagh S

2016-03-01

The link between childhood obesity and both television viewing and television advertising have previously been examined. We sought to investigate the frequency and type of food and beverage placements in children-specific television broadcasts and, in particular, differences between programme genres. Content of five weekdays of children-specific television broadcasting on both UK (BBC) and Irish (RTE) television channels was summarized. Food and beverage placements were coded based on type of product, product placement, product use and characters involved. A comparison was made between different programme genres: animated, cartoon, child-specific, film, quiz, tween and young persons' programming. A total of 1155 (BBC=450; RTE=705) cues were recorded giving a cue every 4·2 min, an average of 12·3 s/cue. The genre with most cues recorded was cartoon programming (30·8%). For the majority of genres, cues related to sweet snacks (range 1·8-23·3%) and sweets/candy (range 3·6-25·8%) featured highly. Fast-food (18·0%) and sugar-sweetened beverage (42·3%) cues were observed in a high proportion of tween programming. Celebratory/social motivation factors (range 10-40 %) were most common across all genres while there were low proportions of cues based on reward, punishment or health-related motivating factors. The study provides evidence for the prominence of energy-dense/nutrient-poor foods and beverages in children's programming. Of particular interest is the high prevalence of fast-food and sugar-sweetened beverage cues associated with tween programming. These results further emphasize the need for programme makers to provide a healthier image of foods and beverages in children's television.

Comparing the effects of combined numerical and visuo- spatial psychoeducational trainings conducted by curricular teachers and external trainers. Preliminary evidence across kindergarteners.

NASA Astrophysics Data System (ADS)

Agus, M.; Mascia, M. L.; Fastame, M. C.; Napoleone, V.; Porru, A. M.; Siddu, F.; Lucangeli, D.; Penna, M. P.

2016-11-01

The aim of this study was to verify the efficacy of two pencil-and-paper trainings empowering numerical and visuo-spatial abilities in Italian five-year-old kindergarteners. Specifically, the trainings were respectively carried out by the curricular teacher or by an external trainer. The former received a specific training in order to use the psychoeducational programmes with her pupils, whereas the latter received a specific education about the role of numerical and visuo-spatial abilities for school achievement and she was also trained to use psychoeducational trainings in kindergarten schools. At pre-test and post-test nonverbal functions and numeracy knowledge were assessed through a battery of standardized tests. The results show that both the numerical psychoeducational programme and the visuo-spatial one are useful tools to enhance mathematical achievements in kindergarteners. However, when the trainings were proposed by the external trainer, the efficacy of the psychoeducational programmes was more significant. These outcomes seem to be related both to the expertise and the novelty effect of the external trainer on the classroom.

Use of herd management programmes to improve the reproductive performance of dairy cattle.

PubMed

McDougall, S; Heuer, C; Morton, J; Brownlie, T

2014-05-01

There has been a long history of herd health and production management programmes in many dairy industries around the world, but evidence for the efficacy of such programmes is limited. In response to a perceived decline in fertility of dairy cows, a herd reproductive management programme (InCalf) was introduced in New Zealand in 2007. This programme uses a management cycle approach that includes an assessment of the current herd status, identification of areas for improvement, development of a plan, implementation of this plan and finally a review process. The programme uses facilitators who work with farmers either in a one-to-one manner or in a formalised group setting that involves a series of meetings over a 12-month period (the farmer action group). The hypothesis that involvement in a reproductive management programme would improve herd reproductive performance was tested using a herd-level controlled randomised study (the National Herd Fertility Study) involving herds in four geographic regions of New Zealand over 2 years. Within each region, herds were ranked on the basis of the 6-week in-calf rate (i.e. the proportion of the herd pregnant in the first 6 weeks of the seasonal breeding programme) in the year preceding commencement of the study and then randomly assigned to be involved in a farmer action group or left as untreated controls. The key outcome variable of the study was the 6-week in-calf rate. Pregnancy diagnosis was undertaken at 12 weeks after the start of the seasonal breeding programme, which allowed determination of conception dates and hence calculation of the 6-week in-calf rate. Additional measurements including heifer live weight and body condition score (pre-calving and pre-mating) were undertaken to test whether treatment resulted in measurable changes in some of the key determinants of herd reproductive performance. Involvement in the farmer action group of InCalf resulted in a 2 percentage point increase in the 6-week in-calf rate (P=0.05). The following additional observations were made in herds involved in the farmer action group relative to control herds: heifers had live weight closer to target; the pre-mating body condition score of cows was higher; and oestrous detection rates were higher. It was concluded that involvement in this herd reproductive management programme improved reproductive outcomes in this New Zealand study. However, to achieve substantial improvements in herd reproductive performance at the regional or national level a greater response to the programme and a high uptake of such programmes is required, as well as use of other industry-level tools such as genetic management programmes.

Corporate social responsibility: Benefits for youth in hydropower development in Laos

NASA Astrophysics Data System (ADS)

Sparkes, Stephen

2014-04-01

The role of the state as regulator combined with policies on Corporate Social Responsibility (CSR) that go beyond legal requirements to establishing programmes that promote development and good international business practice is an emerging new paradigm. In this paper, the example of a state-owned company, Statkraft A.S. of Norway, and its recent hydropower investment in central Laos illustrates how policy, implementation and follow-up can lead to benefits for local communities in the impacted area of the Theun-Hinboun Expansion Project (THXP). Programmes include both support for and improvement of existing government education programmes, employment opportunities and specific programmes for youth. They have been designed to mitigate possible negative effects of the influx of workers and rapid socio-economic change in the affected area. Young people continue to have a central role in the implementation of these programmes as peer educators under the supervision of project staff and non-governmental organisations (NGOs).

The first Spanish space programme 1968 1974

NASA Astrophysics Data System (ADS)

Dorado, José M.

2007-06-01

This paper presents the situation of the Spanish aeronautical industry in the early 1960s, the problems suffered during the first ESRO years, the situation in 1975 as a result of the first National Space Programme (1968-1974) and the specific developments carried out within that programme: the first Spanish satellite successfully launched in 1974 (INTASAT) and the first INTA sounding rockets launched from the own Arenosillo range. This justifies the importance of that Programme for the Spanish aeronautical industry, a programme that permitted its transition to the aerospace field. In parallel, agreements with NASA led to the installation of large space ground stations in Spain operated by INTA personnel, to support major NASA space missions, and to the operation of a very active rockets range. These actions allowed Spain to have one of the largest space sectors in Europe, in those years. This paper's purpose is to find out the main reasons behind this effort.

HIV-Stigma in Nigeria: Review of Research Studies, Policies, and Programmes

PubMed Central

Odimegwu, Clifford O.; Alabi, Olatunji O.

2017-01-01

Nigeria has about 3.8 million people living with HIV, the second largest globally. Stigma and discrimination are major barriers to testing, treatment uptake, and adherence. In this review, we synthesized information on research studies, policies, and programmes related to HIV-stigma in Nigeria. This was with a view to identify critical areas that research and programmes must address in order to accelerate the progress towards zero (new infections, discrimination, and death) target by year 2030. Existing studies were mostly devoted to stigma assessment using varieties of measures. Research, policies, and programmes in the past two decades have made very useful contributions to stigma reduction. We identified the need for a consistent, valid, and objective measure of stigma at different levels of the HIV response. Nigeria does not lack relevant policies; what needs to be strengthened are design, planning, implementation, monitoring, and evaluation of context-specific stigma reduction programmes. PMID:29445545

[Information for teenagers with cancer: current state in French pediatric oncology units].

PubMed

Toutenu, Pauline; Chauvin, Franck

2007-04-01

In France, teenagers with cancer are managed mainly in paediatric units, given that there are only few teenage cancer units. This situation leads to the following question: are teenagers with cancer provided with tailored patient education? The object of this study was to identify education programmes specifically designed for teenagers in French paediatric oncology units. This study was conducted first by questionnaires, second by interviews with health care providers in units where information programs had been implemented. Nine information programmes or projects were identified: 2 booklets, one log book, one Web chat, one video, one DVD, one educative muppet, one peer based education group project, one nursing education session project and one qualitative study project. Only 5 from these programmes or project were specifically designed for teenagers. Four approaches can be identified: conception of education materials, individual patient education, group patient education, informal patient education.

Lot quality assurance sampling for monitoring immunization programmes: cost-efficient or quick and dirty?

PubMed

Sandiford, P

1993-09-01

In recent years Lot quality assurance sampling (LQAS), a method derived from production-line industry, has been advocated as an efficient means to evaluate the coverage rates achieved by child immunization programmes. This paper examines the assumptions on which LQAS is based and the effect that these assumptions have on its utility as a management tool. It shows that the attractively low sample sizes used in LQAS are achieved at the expense of specificity unless unrealistic assumptions are made about the distribution of coverage rates amongst the immunization programmes to which the method is applied. Although it is a very sensitive test and its negative predictive value is probably high in most settings, its specificity and positive predictive value are likely to be low. The implications of these strengths and weaknesses with regard to management decision-making are discussed.

Setting development goals using stochastic dynamical system models

PubMed Central

Nicolis, Stamatios C.; Bali Swain, Ranjula; Sumpter, David J. T.

2017-01-01

The Millennium Development Goals (MDG) programme was an ambitious attempt to encourage a globalised solution to important but often-overlooked development problems. The programme led to wide-ranging development but it has also been criticised for unrealistic and arbitrary targets. In this paper, we show how country-specific development targets can be set using stochastic, dynamical system models built from historical data. In particular, we show that the MDG target of two-thirds reduction of child mortality from 1990 levels was infeasible for most countries, especially in sub-Saharan Africa. At the same time, the MDG targets were not ambitious enough for fast-developing countries such as Brazil and China. We suggest that model-based setting of country-specific targets is essential for the success of global development programmes such as the Sustainable Development Goals (SDG). This approach should provide clear, quantifiable targets for policymakers. PMID:28241057

Setting development goals using stochastic dynamical system models.

PubMed

Ranganathan, Shyam; Nicolis, Stamatios C; Bali Swain, Ranjula; Sumpter, David J T

2017-01-01

The Millennium Development Goals (MDG) programme was an ambitious attempt to encourage a globalised solution to important but often-overlooked development problems. The programme led to wide-ranging development but it has also been criticised for unrealistic and arbitrary targets. In this paper, we show how country-specific development targets can be set using stochastic, dynamical system models built from historical data. In particular, we show that the MDG target of two-thirds reduction of child mortality from 1990 levels was infeasible for most countries, especially in sub-Saharan Africa. At the same time, the MDG targets were not ambitious enough for fast-developing countries such as Brazil and China. We suggest that model-based setting of country-specific targets is essential for the success of global development programmes such as the Sustainable Development Goals (SDG). This approach should provide clear, quantifiable targets for policymakers.

Confronting the stigma of eugenics: genetics, demography and the problems of population.

PubMed

Ramsden, Edmund

2009-12-01

Building upon the work of Thomas Gieryn and Erving Goffman, this paper will explore how the concepts of stigma and boundary work can be usefully applied to history of population science. Having been closely aligned to eugenics in the early 20th century, from the 1930s both demographers and geneticists began to establish a boundary between their own disciplines and eugenic ideology. The eugenics movement responded to this process of stigmatization. Through strategies defined by Goffman as 'disclosure' and 'concealment', stigma was managed, and a limited space for eugenics was retained in science and policy. Yet by the 1960s, a revitalized eugenics movement was bringing leading social and biological scientists together through the study of the genetic demography of characteristics such as intelligence. The success of this programme of 'stigma transformation' resulted from its ability to allow geneticists and demographers to conceive of eugenic improvement in ways that seemed consistent with the ideals of individuality, diversity and liberty. In doing so, it provided them with an alternative, and a challenge, to more radical and controversial programmes to realize an optimal genotype and population. The processes of stigma attribution and management are, however, ongoing, and since the rise of the nature-nurture controversy in the 1970s, the use of eugenics as a 'stigma symbol' has prevailed.

Genetic Diversity in Lens Species Revealed by EST and Genomic Simple Sequence Repeat Analysis

PubMed Central

Dikshit, Harsh Kumar; Singh, Akanksha; Singh, Dharmendra; Aski, Muraleedhar Sidaram; Prakash, Prapti; Jain, Neelu; Meena, Suresh; Kumar, Shiv; Sarker, Ashutosh

2015-01-01

Low productivity of pilosae type lentils grown in South Asia is attributed to narrow genetic base of the released cultivars which results in susceptibility to biotic and abiotic stresses. For enhancement of productivity and production, broadening of genetic base is essentially required. The genetic base of released cultivars can be broadened by using diverse types including bold seeded and early maturing lentils from Mediterranean region and related wild species. Genetic diversity in eighty six accessions of three species of genus Lens was assessed based on twelve genomic and thirty one EST-SSR markers. The evaluated set of genotypes included diverse lentil varieties and advanced breeding lines from Indian programme, two early maturing ICARDA lines and five related wild subspecies/species endemic to the Mediterranean region. Genomic SSRs exhibited higher polymorphism in comparison to EST SSRs. GLLC 598 produced 5 alleles with highest gene diversity value of 0.80. Among the studied subspecies/species 43 SSRs detected maximum number of alleles in L. orientalis. Based on Nei’s genetic distance cultivated lentil L. culinaris subsp. culinaris was found to be close to its wild progenitor L. culinaris subsp. orientalis. The Prichard’s structure of 86 genotypes distinguished different subspecies/species. Higher variability was recorded among individuals within population than among populations. PMID:26381889

Genetic conditions of joint Nordic genetic evaluations of lifetime competition performance in warmblood sport horses.

PubMed

Viklund, Å; Furre, S; Eriksson, S; Vangen, O; Philipsson, J

2015-08-01

Breeding programmes for warmblood sport horses are similar in the Nordic countries Sweden, Denmark, Finland and Norway, and stallions of same origin are used. The aim was to investigate whether a joint Nordic genetic evaluation based on lifetime competition performance is feasible and beneficial for breeding competitive sport horses in the Nordic countries. Results for almost 45,000 horses in show jumping and 30,000 horses in dressage were available. The larger populations in Sweden and Denmark contributed with 85% of the results. Heritabilities and genetic correlations between performances in the different countries were estimated, and comparisons of accuracies of estimated breeding values (EBVs) and number of stallions with EBVs based on national or joint data were studied. The heritabilities ranged between 0.25 and 0.42 for show jumping and between 0.14 and 0.55 for dressage. The genetic correlations between competition performances in the Nordic countries were estimated to 0.63-1.00. EBVs based on joint data increased accuracies for EBVs for stallions by 38-81% and increased the number of available stallions with EBVs by 40-288%, compared to EBVs based on national data only. A joint Nordic genetic evaluation for sport horses is recommended. © 2015 Blackwell Verlag GmbH.

Programme-related stressors among part-time undergraduate nursing students.

PubMed

Nicholl, Honor; Timmins, Fiona

2005-04-01

The aim of this paper is to report a study exploring the perceived stressors identified by a group of 70 students who undertook a part-time degree at one Irish university. In the literature on stress, part-time nursing students who are undertaking continuing education programmes appear to have received little attention. Stress amongst nurses is evident within the nursing literature but little information is available on the specific stressors that affect Registered Nurses who undertake further academic study. Anecdotally, students attending part-time programmes while working full-time report high levels of stress. Quantitative methods were used. While many instruments exist to measure overall stress, this study aimed to explore student's perceptions of specific stressors associated with academic study. We used a questionnaire developed from the literature on the topic. Factors related to writing assignments at degree level, fulfilling personal needs and academic demands, were perceived as major stressors by these students. Factors of little concern were financial issues and attendance on the programme. Individual items receiving highest mean scores were: trying to balance work commitments and the required study (mean 3.89, sd = 1) and the prospect of the final examination (mean 3.86, sd = 1). This study was limited by the use of convenience sampling and self-report methods. Larger studies are required to support the findings. In addition, student stress was not observed or measured. Those involved in the delivery of nurse education programmes to part-time students need to consider the impact of the workload on student welfare, and to prepare students for demands of the programme.

Analysis of BAC-end sequences (BESs) and development of BES-SSR markers for genetic mapping and hybrid purity assessment in pigeonpea (Cajanus spp.)

PubMed Central

2011-01-01

Background Pigeonpea [Cajanus cajan (L.) Millsp.] is an important legume crop of rainfed agriculture. Despite of concerted research efforts directed to pigeonpea improvement, stagnated productivity of pigeonpea during last several decades may be accounted to prevalence of various biotic and abiotic constraints and the situation is exacerbated by availability of inadequate genomic resources to undertake any molecular breeding programme for accelerated crop improvement. With the objective of enhancing genomic resources for pigeonpea, this study reports for the first time, large scale development of SSR markers from BAC-end sequences and their subsequent use for genetic mapping and hybridity testing in pigeonpea. Results A set of 88,860 BAC (bacterial artificial chromosome)-end sequences (BESs) were generated after constructing two BAC libraries by using HindIII (34,560 clones) and BamHI (34,560 clones) restriction enzymes. Clustering based on sequence identity of BESs yielded a set of >52K non-redundant sequences, comprising 35 Mbp or >4% of the pigeonpea genome. These sequences were analyzed to develop annotation lists and subdivide the BESs into genome fractions (e.g., genes, retroelements, transpons and non-annotated sequences). Parallel analysis of BESs for microsatellites or simple sequence repeats (SSRs) identified 18,149 SSRs, from which a set of 6,212 SSRs were selected for further analysis. A total of 3,072 novel SSR primer pairs were synthesized and tested for length polymorphism on a set of 22 parental genotypes of 13 mapping populations segregating for traits of interest. In total, we identified 842 polymorphic SSR markers that will have utility in pigeonpea improvement. Based on these markers, the first SSR-based genetic map comprising of 239 loci was developed for this previously uncharacterized genome. Utility of developed SSR markers was also demonstrated by identifying a set of 42 markers each for two hybrids (ICPH 2671 and ICPH 2438) for genetic purity assessment in commercial hybrid breeding programme. Conclusion In summary, while BAC libraries and BESs should be useful for genomics studies, BES-SSR markers, and the genetic map should be very useful for linking the genetic map with a future physical map as well as for molecular breeding in pigeonpea. PMID:21447154

Exploration of a rare population of Chinese chestnut in North America: stand dynamics, health and genetic relationships

PubMed Central

Miller, Amy C.; Woeste, Keith E.; Anagnostakis, Sandra L.; Jacobs, Douglass F.

2014-01-01

With the transport of plants around the globe, exotic species can readily spread disease to their native relatives; however, they can also provide genetic resistance to those relatives through hybrid breeding programmes. American chestnut (Castanea dentata) was an abundant tree species in North America until its decimation by introduced chestnut blight. To restore chestnut in North America, efforts are ongoing to test putative blight-resistant hybrids of Castanea dentata and Chinese chestnut (Castanea mollissima), but little is known about the ecology of C. mollissima. In a forest in northeastern USA in which C. mollissima has become established, we explored questions of stand dynamics, health and genetic relationships of C. mollissima offspring to an adjacent parent orchard. We found that C. mollissima was adapted and randomly distributed among native species in this relatively young forest. The genetics of the C. mollissima population compared with its parents indicated little effect of selection pressure as each of the parent trees contributed at least one offspring. The ease with which this exotic species proliferated calls to question why C. mollissima is rare elsewhere in forests of North America. It is likely that a time window of low animal predation allowed seedlings to establish, and the shallow soil at this site limited the maximum forest canopy height, permitting the characteristically short-statured C. mollissima to avoid suppression. Our results indicate that because C. mollissima exhibited pioneer species characteristics, hybrids between C. mollissima and C. dentata have the potential to be successful pioneer species of future forests in North America, and we challenge the paradigm that exotic tree species are wholly detrimental to native biodiversity. We contend that exotic tree species should be assessed not only by their level of threat to native species, but also by their potential positive impacts on ecosystems via hybrid breeding programmes. PMID:25336337

Exploration of a rare population of Chinese chestnut in North America: stand dynamics, health and genetic relationships.

PubMed

Miller, Amy C; Woeste, Keith E; Anagnostakis, Sandra L; Jacobs, Douglass F

2014-10-20

With the transport of plants around the globe, exotic species can readily spread disease to their native relatives; however, they can also provide genetic resistance to those relatives through hybrid breeding programmes. American chestnut (Castanea dentata) was an abundant tree species in North America until its decimation by introduced chestnut blight. To restore chestnut in North America, efforts are ongoing to test putative blight-resistant hybrids of Castanea dentata and Chinese chestnut (Castanea mollissima), but little is known about the ecology of C. mollissima. In a forest in northeastern USA in which C. mollissima has become established, we explored questions of stand dynamics, health and genetic relationships of C. mollissima offspring to an adjacent parent orchard. We found that C. mollissima was adapted and randomly distributed among native species in this relatively young forest. The genetics of the C. mollissima population compared with its parents indicated little effect of selection pressure as each of the parent trees contributed at least one offspring. The ease with which this exotic species proliferated calls to question why C. mollissima is rare elsewhere in forests of North America. It is likely that a time window of low animal predation allowed seedlings to establish, and the shallow soil at this site limited the maximum forest canopy height, permitting the characteristically short-statured C. mollissima to avoid suppression. Our results indicate that because C. mollissima exhibited pioneer species characteristics, hybrids between C. mollissima and C. dentata have the potential to be successful pioneer species of future forests in North America, and we challenge the paradigm that exotic tree species are wholly detrimental to native biodiversity. We contend that exotic tree species should be assessed not only by their level of threat to native species, but also by their potential positive impacts on ecosystems via hybrid breeding programmes. Published by Oxford University Press on behalf of the Annals of Botany Company.

Training the public health workforce at the National School of Public Health: meeting Africa's needs.

PubMed

Mokwena, Kebogile; Mokgatle-Nthabu, Mathilda; Madiba, Sphiwe; Lewis, Helen; Ntuli-Ngcobo, Busi

2008-01-01

The inadequate number of trained public health personnel in Africa remains a challenge. In sub-Saharan Africa, the estimated workforce of public health practitioners is 1.3% of the world's health workforce addressing 25% of the world's burden of disease. To address this gap, the National School of Public Health at the then Medical University of Southern Africa created an innovative approach using distance learning components to deliver its public health programmes. Compulsory classroom teaching is limited to four two-week blocks. Combining mainly online components with traditional classroom curricula reduced limitations caused by geographical distances. At the same time, the curriculum was structured to contextualize continental health issues in both course work and research specific to students' needs. The approach used by the National School of Public Health allows for a steady increase in the number of public health personnel in Africa. Because of the flexible e-learning components and African-specific research projects, graduates from 16 African countries could benefit from this programme. An evaluation showed that such programmes need to constantly motivate participants to reduce student dropout rates and computer literacy needs to be a pre-requisite for entry into the programme. Short certificate courses in relevant public health areas would be beneficial in the African context. This programme could be replicated in other regions of the continent.

Training of public health workforce at the National School of Public Health: meeting Africa's needs.

PubMed

Mokwena, Kebogile; Mokgatle-Nthabu, Mathilda; Madiba, Sphiwe; Lewis, Helen; Ntuli-Ngcobo, Busi

2007-12-01

The inadequate number of trained public health personnel in Africa remains a challenge. In sub-Saharan Africa, the estimated workforce of public health practitioners is 1.3% of the world's health workforce addressing 25% of the world's burden of disease. To address this gap, the National School of Public Health at the then Medical University of Southern Africa created an innovative approach using distance learning components to deliver its public health programmes. Compulsory classroom teaching is limited to four two-week blocks. RELEVABT CHANGES: Combining mainly online components with traditional classroom curricula reduced limitations caused by geographical distances. At the same time, the curriculum was structured to contextualize continental health issues in both course work and research specific to students' needs. The approach used by the National School of Public Health allows for a steady increase in the number of public health personnel in Africa. Because of the flexible e-learning components and African-specific research projects, graduates from 16 African countries could avail of this programme. An evaluation showed that such programmes need to constantly motivate participants to reduce student dropout rates and computer literacy needs to be a pre-requisite for entry into the programme. Short certificate courses in relevant public health areas would be beneficial in the African context. This programme could be replicated in other regions of the continent.

Aggressive behaviour in adolescent psychiatric settings: what are risk factors, possible interventions and implications for nursing practice? A literature review.

PubMed

Hage, S; Van Meijel, B; Fluttert, F; Berden, G F M G

2009-09-01

This study was aimed to identify the risk factors of aggressive behaviour in adolescents (1318 years), and to describe available intervention strategies. The findings are evaluated on the basis of their implications for nursing practice. Aggressive behaviour in adolescent psychiatric settings is a neglected research area. The consequences of aggressive behaviour on nurses, other patients and the therapeutic environment can be profound. For the development and implementation of innovative intervention strategies aimed at preventing aggressive behaviour in adolescent psychiatric patients, knowledge of risk factors and evidence-based interventions for aggressive behaviour are of the utmost importance. A systematic search of PubMed, Cinahl, PsychINFO and Cochrane Systematic Reviews (19912007) was employed. The risk factors for aggressive behaviour comprise personal and environmental risk factors. Some risk factors can be influenced by nursing intervention strategies. Available intervention programmes range from interpersonal skills training to massage therapy, parent management training, functional family therapy and multi-systemic therapy. The most effective programmes combine interpersonal skills training with parent management training. No specific nursing intervention programmes were found for dealing with aggressive behaviour in adolescent patients. Nursing staff can assist in achieving a systematic improvement in the treatment outcomes of existing intervention programmes for the prevention of aggression. There is a need for specific nursing intervention programmes to deal with aggressive behaviour in adolescent psychiatric settings.

Role of biotechnological interventions in the improvement of castor (Ricinus communis L.) and Jatropha curcas L.

PubMed

Sujatha, M; Reddy, T P; Mahasi, M J

2008-01-01

Castor and Jatropha belong to the Euphorbiaceae family. This review highlights the role of biotechnological tools in the genetic improvement of castor and jatropha. Castor is monotypic and breeding programmes have mostly relied on the variability available in the primary gene pool. The major constraints limiting profitable cultivation are: vulnerability to insect pests and diseases, and the press cake is toxic which restrict its use as cattle feed. Conventional breeding techniques have limited scope in improvement of resistance to biotic stresses and in quality improvement owing to low genetic variability for these traits. Genetic diversity was assessed using protein based markers while use of molecular markers is at infancy. In vitro studies in castor have been successful in shoot proliferation from meristematic explants, but not callus-mediated regeneration. Genetic transformation experiments have been initiated for development of insect resistant and ricin-free transgenics with very low transformation frequency. In tropical and subtropical countries jatropha is viewed as a potential biofuel crop. The limitations in available germplasm include; lack of knowledge of the genetic base, poor yields, low genetic diversity and vulnerability to a wide array of insects and diseases. Great scope exists for genetic improvement through conventional methods, induced mutations, interspecific hybridization and genetic transformation. Reliable and highly efficient tissue culture protocols for direct and callus-mediated shoot regeneration and somatic embryogenesis are established for jatropha which indicates potential for widening the genetic base through biotechnological tools. Assessment of genetic diversity using molecular markers disclosed low interaccessional variability in local Jatropha curcas germplasm. The current status and future prospects of in vitro regeneration, genetic transformation and the role of molecular tools in the genetic enhancement of the two-oilseed crops are discussed.

Novel genetic capacitors and potentiators for the natural genetic variation of sensory bristles and their trait specificity in Drosophila melanogaster.

PubMed

Takahashi, Kazuo H

2015-11-01

Cryptic genetic variation (CGV) is defined as the genetic variation that has little effect on phenotypic variation under a normal condition, but contributes to heritable variation under environmental or genetic perturbations. Genetic buffering systems that suppress the expression of CGV and store it in a population are called genetic capacitors, and the opposite systems are called genetic potentiators. One of the best-known candidates for a genetic capacitor and potentiator is the molecular chaperone protein, HSP90, and one of its characteristics is that it affects the genetic variation in various morphological traits. However, it remains unclear whether the wide-ranging effects of HSP90 on a broad range of traits are a general feature of genetic capacitors and potentiators. In the current study, I searched for novel genetic capacitors and potentiators for quantitative bristle traits of Drosophila melanogaster and then investigated the trait specificity of their genetic buffering effect. Three bristle traits of D. melanogaster were used as the target traits, and the genomic regions with genetic buffering effects were screened using the 61 genomic deficiencies examined previously for genetic buffering effects in wing shape. As a result, four and six deficiencies with significant effects on increasing and decreasing the broad-sense heritability of the bristle traits were identified, respectively. Of the 18 deficiencies with significant effects detected in the current study and/or by the previous study, 14 showed trait-specific effects, and four affected the genetic buffering of both bristle traits and wing shape. This suggests that most genetic capacitors and potentiators exert trait-specific effects, but that general capacitors and potentiators with effects on multiple traits also exist. © 2015 John Wiley & Sons Ltd.

Market organization and animal genetic resource management: a revealed preference analysis of sheep pricing.

PubMed

Tindano, K; Moula, N; Leroy, P; Traoré, A; Antoine-Moussiaux, N

2017-10-01

Farm animal genetic resources are threatened worldwide. Participation in markets, while representing a crucial way out of poverty for many smallholders, affects genetic management choices with associated sustainability concerns. This paper proposes a contextualized study of the interactions between markets and animal genetic resources management, in the case of sheep markets in Ouagadougou, Burkina Faso. It focusses on the organization of marketing chains and the valuation of genetic characteristics by value chain actors. Marketing chain characterization was tackled through semi-structured interviews with 25 exporters and 15 butchers, both specialized in sheep. Moreover, revealed preference methods were applied to analyse the impact of animals' attributes on market pricing. Data were collected from 338 transactions during three different periods: Eid al-Adha, Christmas and New Year period, and a neutral period. The neutral period is understood as a period not close to any event likely to influence the demand for sheep. The results show that physical characteristics such as live weight, height at withers and coat colour have a strong influence on the animals' prices. Live weight has also had an increasing marginal impact on price. The different markets (local butcher, feasts, export market, sacrifices) represent distinct demands for genetic characteristics, entailing interesting consequences for animal genetic resource management. Any breeding programme should therefore take this diversity into account to allow this sector to contribute better to a sustainable development of the country.

De novo transcriptome assembly, development of EST-SSR markers and population genetic analyses for the desert biomass willow, Salix psammophila

PubMed Central

Jia, Huixia; Yang, Haifeng; Sun, Pei; Li, Jianbo; Zhang, Jin; Guo, Yinghua; Han, Xiaojiao; Zhang, Guosheng; Lu, Mengzhu; Hu, Jianjun

2016-01-01

Salix psammophila, a sandy shrub known as desert willow, is regarded as a potential biomass feedstock and plays an important role in maintaining local ecosystems. However, a lack of genomic data and efficient molecular markers limit the study of its population evolution and genetic breeding. In this study, chromosome counts, flow cytometry and SSR analyses indicated that S. psammophila is tetraploid. A total of 6,346 EST-SSRs were detected based on 71,458 de novo assembled unigenes from transcriptome data. Twenty-seven EST-SSR markers were developed to evaluate the genetic diversity and population structure of S. psammophila from eight natural populations in Northern China. High levels of genetic diversity (mean 10.63 alleles per locus; mean HE 0.689) were dectected in S. psammophila. The weak population structure and little genetic differentiation (pairwise FST = 0.006–0.016) were found among Population 1-Population 7 (Pop1-Pop7; Inner Mongolia and Shaanxi), but Pop8 (Ningxia) was clearly separated from Pop1-Pop7 and moderate differentiation (pairwise FST = 0.045–0.055) was detected between them, which may be influenced by local habitat conditions. Molecular variance analyses indicated that most of the genetic variation (94.27%) existed within populations. These results provide valuable genetic informations for natural resource conservation and breeding programme optimisation of S. psammophila. PMID:27995985

Effectiveness of the combined evaluation of KLK3 genetics and free-to-total prostate specific antigen ratio for prostate cancer diagnosis.

PubMed

Zambon, Carlo-Federico; Prayer-Galetti, Tommaso; Basso, Daniela; Padoan, Andrea; Rossi, Elisa; Secco, Silvia; Pelloso, Michela; Fogar, Paola; Navaglia, Filippo; Moz, Stefania; Zattoni, Filiberto; Plebani, Mario

2012-10-01

Of serum prostate specific antigen variability 40% depends on inherited factors. We ascertained whether the knowledge of KLK3 genetics would enhance prostate specific antigen diagnostic performance in patients with clinical suspicion of prostate cancer. We studied 1,058 men who consecutively underwent prostate biopsy for clinical suspicion of prostate cancer. At histology prostate cancer was present in 401 cases and absent in 657. Serum total prostate specific antigen and the free-to-total prostate specific antigen ratio were determined. Four polymorphisms of the KLK3 gene (rs2569733, rs2739448, rs925013 and rs2735839) and 1 polymorphism of the SRD5A2 gene (rs523349) were studied. The influence of genetics on prostate specific antigen variability was evaluated by multivariate linear regression analysis. The performance of total prostate specific antigen and the free-to-total prostate specific antigen ratio alone or combined with a genetically based patient classification were defined by ROC curve analyses. For prostate cancer diagnosis the free-to-total prostate specific antigen ratio index alone (cutoff 11%) was superior to total prostate specific antigen (cutoff 4 ng/ml) and to free-to-total prostate specific antigen ratio reflex testing (positive predictive value 61%, 43% and 54%, respectively). Prostate specific antigen correlated with KLK3 genetics (rs2735839 polymorphism p = 0.001, and rs2569733, rs2739448 and rs925013 haplotype combination p = 0.003). In patients with different KLK3 genetics 2 optimal free-to-total prostate specific antigen ratio cutoffs (11% and 14.5%) were found. For free-to-total prostate specific antigen ratio values between 11% and 14.5% the prostate cancer probability ranged from 30.0% to 47.4% according to patient genetics. The free-to-total prostate specific antigen ratio is superior to total prostate specific antigen for prostate cancer diagnosis, independent of total prostate specific antigen results. Free-to-total prostate specific antigen ratio findings below 11% are positively associated with prostate cancer and those above 14.5% are negatively associated with prostate cancer, while the interpretation of those between 11% and 14.5% is improved by patient KLK3 genetic analysis. Copyright © 2012 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

[Work place health promotion programmes of the statutory German Pension Insurance].

PubMed

Meffert, C; Mittag, O; Jäckel, W H

2013-12-01

In 2009, the amendment of § 31 Abs. 1 Nr. 2 SGB VI gave the German Pension Insurance the opportunity to provide outpatient medical treatments for insured people who have an occupation with particularly high risk of health. Ever since, the German Pension Insurance has developed various work place prevention programmes, which have been implemented as pilot projects. This article aims at systematically recording and comparatively analyzing these programmes in a synopsis which meets the current state of knowledge. We developed an 8 page questionnaire focusing on work place prevention programmes by the German Pension Insurance. This questionnaire was sent to people in charge of all programmes known to us. All programmes have been drafted -across indications. They are aiming at insured people who already suffer from first health disorders but who are not in imminent need of rehabilitation. However, the concrete target groups at which the specific programmes are aimed differ (shift workers, nurses, elderly employees). Another difference between the various programmes is the setting (in- or outpatients) as well as the duration. All programmes are using existing structures offered by the German Pension Insurance. They provide measures in pension insurance owned rehabilitation centers. It would be desirable to link these performances with internal work place health promotion and offers of other social insurances. © Georg Thieme Verlag KG Stuttgart · New York.

Affordability of programmes to prevent spontaneous preterm birth in Austria: a budget impact analysis.

PubMed

Zechmeister-Koss, Ingrid; Piso, Brigitte

2014-02-01

Preterm birth is a rising health problem in Europe generally, and in Austria specifically. Decision makers require objective information on the effects and costs of measures to prevent preterm birth. We undertook a budget impact analysis from a public payer perspective and for a 1-year and 5-year time horizon for five prevention approaches to reduce preterm birth. These were cervix screening + progesterone application, progesterone injection, smoking cessation, fish oil supplementation and infection screening. We analysed affordability in terms of programme costs and potential cost savings. Programme costs range from below €50 000 (cervix screening in high-risk pregnancy) to €500 000 (universal infection screening). The lowest health effects have been shown for smoking cessation programmes (-10 preterm births per year), whereas infection screening demonstrated the largest effect (-230 preterm births per year). In the base-case analysis, all programmes are potentially cost saving (-€500 000 to -€13 million per year). In the sensitivity analyses, preterm birth costs, target group size and (partly) unit costs of programme components have an influence on potential cost savings. However, except for two programmes, the results are robust concerning an overall economic net benefit of the programmes analysed compared with no programme. The study is mainly limited by the quality of some cost data and choice of the reference scenario. When considering potential cost savings, the five prevention programmes analysed seem affordable, with cervix screening and infection screening likely being the most promising in Austria.

An assessment of oral cancer curricula in dental hygiene programmes: implications for cancer control.

PubMed

Thacker, K K; Kaste, L M; Homsi, K D; LeHew, C W

2016-11-01

To assess oral cancer prevention and early detection curricula in Illinois associate-degree dental hygiene programmes and highlight global health applications. An email invitation was sent to each Illinois associate-degree granting dental hygiene programme's oral cancer contact to participate in a survey via a SurveyMonkey™ link to a 21-item questionnaire. Questions elicited background information on each programme and inquired about curriculum and methods used for teaching oral cancer prevention and early detection. Eight of the 12 (67%) programmes responded. Three (37.5%) reported having a specific oral cancer curriculum. Five (62.5%) require students to perform examinations for signs and symptoms of oral cancer at each clinic visit. Variations exist across the programmes in the number of patients each student sees annually and the number of oral cancer examinations each student performs before graduation. Seven programmes (87.5%) conduct early detection screening in community settings. All programmes included risk assessment associated with tobacco. All other risk factors measured were treated inconsistently. Significant differences in training and experience were reported across Illinois dental hygiene programmes. Training is neither standardized nor uniformly comprehensive. Students' preparation for delivering prevention and early detection services to their patients could be strengthened to ensure competence including reflection of risk factors and behaviours in a global context. Regular review of curricular guidelines and programme content would help dental hygienists meet the expectations of the Crete Declaration on Oral Cancer Prevention. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Psychological effects of a cosmetic education programme in patients with breast cancer.

PubMed

Park, H Y; Kim, J H; Choi, S; Kang, E; Oh, S; Kim, J Y; Kim, S W

2015-07-01

Treatments for breast cancer often include interventions related to psychosocial issues such as negative body image, loss of femininity, and low self-esteem. We identified the psychological effects of a cosmetics education programme in patients with breast cancer. Cosmetic programme is a specific care designed to help patients handle appearance-related side effects. Thirty-one women with breast cancer at a university hospital in South Korea who received a cosmetics education programme were compared with 29 subjects in a control group who received the treatment as usual. Psychological factors including distress, self-esteem, and sexual functioning were assessed three times (before and after the programme, and at the 1-month follow-up). After the programme, patients in the treatment group were significantly less likely than those in the control group to rely on distress (P = 0.038) and avoidance coping (P < 0.001) but not on self-esteem. The mean scores in the treatment group for sexual functioning were higher than those in the control group after the treatment. Our results suggest the potential usefulness of a brief cosmetics education programme for reducing distress and reliance on negative coping strategies. Implementing a cosmetics programme for patients with breast cancer may encourage patients to control negative psychological factors. © 2015 John Wiley & Sons Ltd.

Migration, Ethnicity, and Psychosis: Toward a Sociodevelopmental Model

PubMed Central

Morgan, Craig; Charalambides, Monica; Hutchinson, Gerard; Murray, Robin M.

2010-01-01

There is consistent and strong evidence that the incidence of all psychoses is higher in many migrant and minority ethnic populations in a number of countries. The reasons for this are, however, unclear and a wide range of explanations have been proposed, from genetic to neurodevelopmental to psychosocial. In this article, we describe and evaluate the available evidence for and against each of these. What this shows is that: (1) there are few studies that have directly investigated specific risk factors in migrant and minority ethnic populations, with often only 1 or 2 studies of any relevance to specific explanations and (2) what limited research there has been tends to implicate a diverse range of social factors (including childhood separation from parents, discrimination and, at an area level, ethnic density) as being of potential importance. In an attempt to synthesize these disparate findings and provide a basis for future research, we go on to propose an integrated model—of a sociodevelopmental pathway to psychosis—to account for the reported high rates in migrant and minority ethnic populations. Aspects of this model will be directly tested in a new Europe-wide incidence and case–control study that we will conduct over the next 3 years, as part of the European Network of National Schizophrenia Networks studying Gene–Environment Interactions programme. PMID:20513653

The cellular immune response of Daphnia magna under host-parasite genetic variation and variation in initial dose.

PubMed

Auld, Stuart K J R; Edel, Kai H; Little, Tom J

2012-10-01

In invertebrate-parasite systems, the likelihood of infection following parasite exposure is often dependent on the specific combination of host and parasite genotypes (termed genetic specificity). Genetic specificity can maintain diversity in host and parasite populations and is a major component of the Red Queen hypothesis. However, invertebrate immune systems are thought to only distinguish between broad classes of parasite. Using a natural host-parasite system with a well-established pattern of genetic specificity, the crustacean Daphnia magna and its bacterial parasite Pasteuria ramosa, we found that only hosts from susceptible host-parasite genetic combinations mounted a cellular response following exposure to the parasite. These data are compatible with the hypothesis that genetic specificity is attributable to barrier defenses at the site of infection (the gut), and that the systemic immune response is general, reporting the number of parasite spores entering the hemocoel. Further supporting this, we found that larger cellular responses occurred at higher initial parasite doses. By studying the natural infection route, where parasites must pass barrier defenses before interacting with systemic immune responses, these data shed light on which components of invertebrate defense underlie genetic specificity. © 2012 The Author(s). Evolution© 2012 The Society for the Study of Evolution.

Toward an Integration of Cognitive and Genetic Models of Risk for Depression

PubMed Central

Gibb, Brandon E.; Beevers, Christopher G.; McGeary, John E.

2012-01-01

There is growing interest in integrating cognitive and genetic models of depression risk. We review two ways in which these models can be meaningfully integrated. First, information-processing biases may represent intermediate phenotypes for specific genetic influences. These genetic influences may represent main effects on specific cognitive processes or may moderate the impact of environmental influences on information-processing biases. Second, cognitive and genetic influences may combine to increase reactivity to environmental stressors, increasing risk for depression in a gene × cognition × environment model of risk. There is now growing support for both of these ways of integrating cognitive and genetic models of depression risk. Specifically, there is support for genetic influences on information-processing biases, particularly the link between 5-HTTLPR and attentional biases, from both genetic association and gene × environment (G × E) studies. There is also initial support for gene × cognition × environment models of risk in which specific genetic influences contribute to increased reactivity to environmental influences. We review this research and discuss important areas of future research, particularly the need for larger samples that allow for a broader examination of genetic and epigenetic influences as well as the combined influence of variability across a number of genes. PMID:22920216

Sex-specific genetic variance and the evolution of sexual dimorphism: a systematic review of cross-sex genetic correlations.

PubMed

Poissant, Jocelyn; Wilson, Alastair J; Coltman, David W

2010-01-01

The independent evolution of the sexes may often be constrained if male and female homologous traits share a similar genetic architecture. Thus, cross-sex genetic covariance is assumed to play a key role in the evolution of sexual dimorphism (SD) with consequent impacts on sexual selection, population dynamics, and speciation processes. We compiled cross-sex genetic correlations (r(MF)) estimates from 114 sources to assess the extent to which the evolution of SD is typically constrained and test several specific hypotheses. First, we tested if r(MF) differed among trait types and especially between fitness components and other traits. We also tested the theoretical prediction of a negative relationship between r(MF) and SD based on the expectation that increases in SD should be facilitated by sex-specific genetic variance. We show that r(MF) is usually large and positive but that it is typically smaller for fitness components. This demonstrates that the evolution of SD is typically genetically constrained and that sex-specific selection coefficients may often be opposite in sign due to sub-optimal levels of SD. Most importantly, we confirm that sex-specific genetic variance is an important contributor to the evolution of SD by validating the prediction of a negative correlation between r(MF) and SD.

Harm reduction programmes in the Asia--Pacific Region.

PubMed

Reid, Gary; Devaney, Madonna L; Baldwin, Simon

2008-01-01

This paper reports on the public health intervention of harm reduction to address drug use issues in the Asia-Pacific region. It is based on the report 'Situational analysis of illicit drug issues and responses in Asia and the Pacific', commissioned by the Australian National Council on Drugs Asia Pacific Drug Issues Committee. A comprehensive desk-based review based on published and unpublished literature and key informant data. Drug use in the Asia--Pacific region is widespread, resulting in serious adverse health consequences. Needle and syringe programmes are found in some parts of Asia, but not in the six Pacific Island countries reviewed. Outreach and peer education programmes are implemented, but overall appear minor in size and scope. Substitution therapy programmes appear to be entering a new era of acceptance in some parts of Asia. Primary health care specifically for drug users overall is limited. Harm reduction programmes in the Asia--Pacific region are either small in scale or do not exist. Most programmes lack the technical capacity, human resources and a limited scope of operations to respond effectively to the needs of drug users. Governments in this region should be encouraged to endorse evidence-based harm reduction programmes.

Nurse perceptions of family home-visiting programmes in Australia and England.

PubMed

Sawyer, Michael Gifford; Barnes, Jacqueline; Frost, Linda; Jeffs, Debra; Bowering, Kerrie; Lynch, John

2013-05-01

Nurse home-visiting programmes are employed to enhance the functioning of disadvantaged mothers and young children. Despite the key role played by nurses, there is little empirical evidence describing the views and experiences of nurses who deliver home-visiting programmes. This study compared the views and experiences of nurses delivering home-visiting programmes in England and South Australia. Participants were 108 nurses delivering the South Australian Family Home Visiting programme (2008-2011), and 44 nurses delivering the Family Nurse Partnership programme in England (2007-2009). Data were collected using a standard questionnaire that was completed by nurses in each country. The questionnaire asked nurses about their level of influence on programme outcomes, approaches they used to retain maternal engagement with the home-visiting programmes, barriers to effective programme delivery and the effectiveness of supervision. Both groups of nurses considered that their greatest influence was improving mothers' confidence with parenting skills and increasing mothers' knowledge about children's development. Each group identified quality of nurse-mother relationships as the factor most relevant to retaining maternal engagement. Other influential factors were flexibility of timing for visits and the capacity of the programmes to meet specific needs of mothers. There was consistency in the nurses' views about the home-visiting programmes delivered in England and Australia. Future studies should utilise prospective designs to identify the mechanisms by which factors influence the quality of nurse-mother relationships, approaches used by nurses to solve family problems and elements of mother-nurse relationships that have the strongest influence on programme outcomes. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Youth Athletes, Bodies and Gender: Gender Constructions in Textbooks Used in Coaching Education Programmes in Sweden

ERIC Educational Resources Information Center

Grahn, Karin

2014-01-01

This paper is based on analyses of ideas about girls and boys in sports as they are presented in textbooks used in coaching education programmes in Sweden. Specifically, it explores gender in relation to descriptions of girls' and boys' bodies and bodily development during puberty. Texts construct gender differences. Masculinity is shaped around…

Integrating ICT in Kenyan Secondary Schools: An Exploratory Case Study of a Professional Development Programme

ERIC Educational Resources Information Center

Tondeur, Jo; Krug, Don; Bill, Mike; Smulders, Maaike; Zhu, Chang

2015-01-01

This study explores the introduction of Information and Communication Technology (ICT) in Kenyan secondary schools. Specifically, it is a case study of four schools with no previous access to ICT. The professional development programme from which data for this study were drawn was designed to support teachers learning to integrate ICT in the…

U.S. Students, Poverty, and School Libraries: What Results of the 2009 Programme for International Student Assessment Tell Us

ERIC Educational Resources Information Center

Adkins, Denice

2014-01-01

This paper looks at results from the 2009 Programme for International Student Assessment to examine the effects of school libraries on students' test performance, with specific focus on the average of students' family wealth in a school. The paper documents students' school library use and students' home possessions to indicate how school…

A Structured Writing Programme for Staff: Facilitating Knowledge, Skills, Confidence and Publishing Outcomes

ERIC Educational Resources Information Center

Devlin, Marcia; Radloff, Alex

2014-01-01

The growing interest in the higher education sector in publishing pedagogical research has led to a focus on professional development for staff who wish to engage in this endeavour. This paper describes and evaluates a specific programme designed to help university staff to prepare and submit a high-quality paper to a peer-reviewed journal.…

Moving Elite Athletes Forward: Examining the Status of Secondary School Elite Athlete Programmes and Available Post-School Options

ERIC Educational Resources Information Center

Brown, Seth

2015-01-01

Purpose: The purpose of this study focused specifically on examining the status of and the promotion of two elite athlete programmes (EAPs), the students/elite athlete selection process and available post-school options. The research was guided by Michel Foucault's work in understanding the relationship between power and knowledge. Participants,…

Translating knowledge about abiotic stress tolerance to breeding programmes.

PubMed

Gilliham, Matthew; Able, Jason A; Roy, Stuart J

2017-06-01

Plant breeding and improvements in agronomic practice are making a consistent contribution to increasing global crop production year upon year. However, the rate of yield improvement currently lags behind the targets set to produce enough food to meet the demands of the predicted global population in 2050. Furthermore, crops that are exposed to harmful abiotic environmental factors (abiotic stresses, e.g. water limitation, salinity, extreme temperature) are prone to reduced yields. Here, we briefly describe the processes undertaken in conventional breeding programmes, which are usually designed to improve yields in near-optimal conditions rather than specifically breeding for improved crop yield stability under stressed conditions. While there is extensive fundamental research activity that examines mechanisms of plant stress tolerance, there are few examples that apply this research to improving commercial crop yields. There are notable exceptions, and we highlight some of these to demonstrate the magnitude of yield gains that could be made by translating agronomic, phenological and genetic solutions focused on improving or mitigating the effect of abiotic stress in the field; in particular, we focus on improvements in crop water-use efficiency and salinity tolerance. We speculate upon the reasons for the disconnect between research and research translation. We conclude that to realise untapped rapid gains towards food security targets new funding structures need to be embraced. Such funding needs to serve both the core and collaborative activities of the fundamental, pre-breeding and breeding research communities in order to expedite the translation of innovative research into the fields of primary producers. © 2016 The Authors The Plant Journal © 2016 John Wiley & Sons Ltd.

Anthropometric and physiological predispositions for elite soccer.

PubMed

Reilly, T; Bangsbo, J; Franks, A

2000-09-01

This review is focused on anthropometric and physiological characteristics of soccer players with a view to establishing their roles within talent detection, identification and development programmes. Top-class soccer players have to adapt to the physical demands of the game, which are multifactorial. Players may not need to have an extraordinary capacity within any of the areas of physical performance but must possess a reasonably high level within all areas. This explains why there are marked individual differences in anthropometric and physiological characteristics among top players. Various measurements have been used to evaluate specific aspects of the physical performance of both youth and adult soccer players. The positional role of a player is related to his or her physiological capacity. Thus, midfield players and full-backs have the highest maximal oxygen intakes ( > 60 ml x kg(-1) x min(-1)) and perform best in intermittent exercise tests. On the other hand, midfield players tend to have the lowest muscle strength. Although these distinctions are evident in adult and elite youth players, their existence must be interpreted circumspectly in talent identification and development programmes. A range of relevant anthropometric and physiological factors can be considered which are subject to strong genetic influences (e.g. stature and maximal oxygen intake) or are largely environmentally determined and susceptible to training effects. Consequently, fitness profiling can generate a useful database against which talented groups may be compared. No single method allows for a representative assessment of a player's physical capabilities for soccer. We conclude that anthropometric and physiological criteria do have a role as part of a holistic monitoring of talented young players.

European Network of Bipolar Research Expert Centre (ENBREC): a network to foster research and promote innovative care.

PubMed

Henry, Chantal; Andreassen, Ole A; Barbato, Angelo; Demotes-Mainard, Jacques; Goodwin, Guy; Leboyer, Marion; Vieta, Eduard; Nolen, Willem A; Kessing, Lars Vedel; Scott, Jan; Bauer, Michael

2013-01-01

Bipolar disorders rank as one of the most disabling illnesses in working age adults worldwide. Despite this, the quality of care offered to patients with this disorder is suboptimal, largely due to limitations in our understanding of the pathology. Improving this scenario requires the development of a critical mass of expertise and multicentre collaborative projects. Within the framework of the European FP7 programme, we developed a European Network of Bipolar Research Expert Centres (ENBREC) designed specifically to facilitate EU-wide studies. ENBREC provides an integrated support structure facilitating research on disease mechanisms and clinical outcomes across six European countries (France, Germany, Italy, Norway, Spain and the UK). The centres are adopting a standardised clinical assessment that explores multiple aspects of bipolar disorder through a structured evaluation designed to inform clinical decision-making as well as being applicable to research. Reliable, established measures have been prioritised, and instruments have been translated and validated when necessary. An electronic healthcare record and monitoring system (e-ENBREC©) has been developed to collate the data. Protocols to conduct multicentre clinical observational studies and joint studies on cognitive function, biomarkers, genetics, and neuroimaging are in progress; a pilot study has been completed on strategies for routine implementation of psycho-education. The network demonstrates 'proof of principle' that expert centres across Europe can collaborate on a wide range of basic science and clinical programmes using shared protocols. This paper is to describe the network and how it aims to improve the quality and effectiveness of research in a neglected priority area.

Preparing for budget-based payment methodologies: global payment and episode-based payment.

PubMed

Hudson, Mark E

2015-10-01

Use of budget-based payment methodologies (capitation and episode-based bundled payment) has been demonstrated to drive value in healthcare delivery. With a focus on high-volume, high-cost surgical procedures, inclusion of anaesthesiology services in these methodologies is likely. This review provides a summary of budget-based payment methodologies and practical information necessary for anaesthesiologists to prepare for participation in these programmes. Although few examples of anaesthesiologists' participation in these models exist, an understanding of the structure of these programmes and opportunities for participation are available. Prospective preparation in developing anaesthesiology-specific bundled payment profiles and early participation in pathway development associated with selected episodes of care are essential for successful participation as a gainsharing partner. With significant opportunity to contribute to care coordination and cost management, anaesthesiology can play an important role in budget-based payment programmes and should expect to participate as full gainsharing partners. Precise costing methodologies and accurate economic modelling, along with identification of quality management and cost control opportunities, will help identify participation opportunities and appropriate payment and gainsharing agreements. Anaesthesiology-specific examples with budget-based payment models are needed to help guide increased participation in these programmes.

Progress in centralised ethics review processes: Implications for multi-site health evaluations.

PubMed

Prosser, Brenton; Davey, Rachel; Gibson, Diane

2015-04-01

Increasingly, public sector programmes respond to complex social problems that intersect specific fields and individual disciplines. Such responses result in multi-site initiatives that can span nations, jurisdictions, sectors and organisations. The rigorous evaluation of public sector programmes is now a baseline expectation. For evaluations of large and complex multi-site programme initiatives, the processes of ethics review can present a significant challenge. However in recent years, there have been new developments in centralised ethics review processes in many nations. This paper provides the case study of an evaluation of a national, inter-jurisdictional, cross-sector, aged care health initiative and its encounters with Australian centralised ethics review processes. Specifically, the paper considers progress against the key themes of a previous five-year, five nation study (Fitzgerald and Phillips, 2006), which found that centralised ethics review processes would save time, money and effort, as well as contribute to more equitable workloads for researchers and evaluators. The paper concludes with insights for those charged with refining centralised ethics review processes, as well as recommendations for future evaluators of complex multi-site programme initiatives. Copyright © 2015 Elsevier Ltd. All rights reserved.

Musculoskeletal injuries in British Army recruits: a prospective study of diagnosis-specific incidence and rehabilitation times.

PubMed

Sharma, Jagannath; Greeves, Julie P; Byers, Mark; Bennett, Alexander N; Spears, Iain R

2015-05-04

Musculoskeletal injuries during initial military training are a significant medical problem facing military organisations globally. In order to develop an injury management programme, this study aims to quantify the incidence and rehabilitation times for injury specific diagnoses. This was a prospective follow-up study of musculoskeletal injuries in 6608 British Army recruits during a 26-week initial military training programme over a 2-year period. Incidence and rehabilitation times for injury specific diagnoses were recorded and analysed. During the study period the overall incidence of musculoskeletal injuries was 48.6%, and the most common diagnosis was iliotibial band syndrome (6.2%). A significant proportion of the injuries occurred during the first 11 weeks of the programme. The longest rehabilitation times were for stress fractures of the femur, calcaneus and tibia (116 ± 17 days, 92 ± 12 days, and 85 ± 11 days, respectively). The combination of high incidence and lengthy rehabilitation indicates that medial tibial stress syndrome had the greatest impact on training, accounting for almost 20% of all days spent in rehabilitation. When setting prevention priorities consideration should be given to both the incidence of specific injury diagnoses and their associated time to recovery.

What Counts is not Falling … but Landing1

PubMed Central

BROUSSELLE, ASTRID

2012-01-01

Implementation evaluations, also called process evaluations, involve studying the development of programmes, and identifying and understanding their strengths and weaknesses. Undertaking an implementation evaluation offers insights into evaluation objectives, but does not help the researcher develop a research strategy. During the implementation analysis of the UNAIDS drug access initiative in Chile, the strategic analysis model developed by Crozier and Friedberg was used. However, a major incompatibility was noted between the procedure put forward by Crozier and Friedberg and the specific characteristics of the programme being evaluated. In this article, an adapted strategic analysis model for programme evaluation is proposed. PMID:23526306

[Chronobiology of immune system].

PubMed

Trufakin, V A; Shurlygina, A V; Dergacheva, T I; Litvinenko, G I; Verbitskaia, L V

1999-01-01

The biological rhythmological programme of the immune system is a constituent of the body's common biological rhythmological programme. Its pattern seems to be genetically determined and reflects the functional status of the system. The chronobiological mechanisms responsible for the regulation of immune functions lie in the presence of certain phasic interrelations between the biological rhythms of the synthesis and production of regulatory agents on the one hand, and those of the receptor system and metabolic potential of immunocompetent cells on the other. The facts given in the paper may be a basis for a chronobiological approach to better understanding the mechanisms of the physiology and pathology of the immune system. The medical significance of study of the structural and temporal pattern of the immune system consists in the development of new techniques for diagnosis, prognosis, therapy, and assessment of risk factors in immunopathological conditions.

Minimizing off-Target Mutagenesis Risks Caused by Programmable Nucleases.

PubMed

Ishida, Kentaro; Gee, Peter; Hotta, Akitsu

2015-10-16

Programmable nucleases, such as zinc finger nucleases (ZFNs), transcription activator like effector nucleases (TALENs), and clustered regularly interspersed short palindromic repeats associated protein-9 (CRISPR-Cas9), hold tremendous potential for applications in the clinical setting to treat genetic diseases or prevent infectious diseases. However, because the accuracy of DNA recognition by these nucleases is not always perfect, off-target mutagenesis may result in undesirable adverse events in treated patients such as cellular toxicity or tumorigenesis. Therefore, designing nucleases and analyzing their activity must be carefully evaluated to minimize off-target mutagenesis. Furthermore, rigorous genomic testing will be important to ensure the integrity of nuclease modified cells. In this review, we provide an overview of available nuclease designing platforms, nuclease engineering approaches to minimize off-target activity, and methods to evaluate both on- and off-target cleavage of CRISPR-Cas9.

[Weight maintenance after weight loss - how the body defends its weight].

PubMed

Holzapfel, C; Hauner, H

2011-01-01

Mean weight loss of most conservative therapeutic weight loss programmes is about five to six kilograms after one year. In our "obesogenic" environment it is difficult for persons to maintain the new weight. Also continuation of the programme cannot prevent a moderate weight increase in the follow-up year. The reasons for this are not clear: individual lifestyle, environmental and genetic factors may play a role, but also the complex regulatory system of the body "to defend its weight". Nevertheless, for weight maintenance a lifelong change of lifestyle is of critical importance. Concerning nutrition a fat-reduced diet with a decrease of energy density together with regular eating habits and adequate portion size promises the greatest benefit and is likely to allow sufficient satiety. © Georg Thieme Verlag KG Stuttgart · New York.

Genetic diversity and population structure of an extremely endangered species: the world's largest Rhododendron.

PubMed

Wu, Fu Qin; Shen, Shi Kang; Zhang, Xin Jun; Wang, Yue Hua; Sun, Wei Bang

2014-12-04

Comprehensive studies on the genetic diversity and structure of endangered species are urgently needed to promote effective conservation and management activities. The big tree rhododendron, Rhododendron protistum var. giganteum, is a highly endangered species with only two known endemic populations in a small area in the southern part of Yunnan Province in China. Unfortunately, limited information is available regarding the population genetics of this species. Therefore, we conducted amplified fragment length polymorphism (AFLP) analysis to characterize the genetic diversity and variation of this species within and between remaining populations. Twelve primer combinations of AFLP produced 447 unambiguous and repetitious bands. Among these bands, 298 (66.67 %) were polymorphic. We found high genetic diversity at the species level (percentage of polymorphic loci = 66.67 %, h = 0.240, I = 0.358) and low genetic differentiation (Gst = 0.110) between the two populations. Gene flow between populations (Nm) was relatively high at 4.065. Analysis of molecular variance results revealed that 22 % of the genetic variation was partitioned between populations and 78 % of the genetic variation was within populations. The presence of moderate to high genetic diversity and low genetic differentiation in the two populations can be explained by life history traits, pollen dispersal and high gene flow (Nm = 4.065). Bayesian structure and principal coordinate analysis revealed that 56 sampled trees were clustered into two groups. Our results suggest that some rare and endangered species are able to maintain high levels of genetic diversity even at small population sizes. These results will assist with the design of conservation and management programmes, such as in situ and ex situ conservation, seed collection for germplasm conservation and reintroduction. Published by Oxford University Press on behalf of the Annals of Botany Company.

Programmable integration of heterogeneous nanomaterial arrays onto arbitrary substrates with applications in gas sensing

NASA Astrophysics Data System (ADS)

Miller, Jenna Olivia

Genetic counselors periodically see incarcerated patients, however, there is virtually no research on genetic counseling in this population. To initiate a conversation on the genetic counseling of incarcerated women, six guest lectures on the science and ethics of human genetics were prepared and delivered to a select group of 19 students in the Bedford Hills College Program at the Bedford Hills Correctional Facility for women in Bedford Hills, New York. Each lecture was analyzed for its effectiveness and impact. Additionally, 12 participating students were administered a course evaluation wherein they shared their thoughts on the lectures. The student inmates' responses suggested that prenatal genetics issues, such as age-related risks during pregnancy, were most relevant and valuable to them. Results also indicated that those attempting to teach genetics or biology in the women's prison setting should create a flexible course that includes ample handouts, visual aids, and class discussion. Additionally, the information gleaned through a review of the literature, the participants' responses, and the lecture series itself identified key issues to address as genetic counselors attempt to better serve incarcerated patients. The students who participated in this lecture series benefitted from simple explanations and visual aids, as would most genetic counseling patients, incarcerated or not. They also expressed significant distrust of the medical system. Results show that genetic counselors should strive to build rapport with incarcerated patients, and should be prepared to address sensitive subjects such as substance abuse, domestic violence, and mental illness with them. Furthermore, educating more incarcerated women about genetics may help them establish more faith in genetic counseling as a valuable health service.

Isolation and characterization of microsatellite markers in Acca sellowiana (Berg) Burret.

PubMed

Santos, K L; Santos, M O; Laborda, P R; Souza, A P; Peroni, N; Nodari, R O

2008-09-01

Acca sellowiana has commercial potential due to the quality and the unique flavor of its fruit. Conservation of natural populations and management of breeding programmes would benefit from the availability of molecular markers that could be used to characterize levels and distribution of genetic variability. Thus, 13 microsatellite markers were developed from an enriched genomic library of A. sellowiana. They were characterized using 40 samples. The expected and observed heterozygosities ranged from 0.513 to 0.913 and from 0.200 to 0.889, respectively. These are the first microsatellite loci characterized from A. sellowiana that will contribute to improve researches on its genetic conservation, characterization and breeding. © 2008 The Authors. Journal compilation © 2008 Blackwell Publishing Ltd.

Isolation and characterization of microsatellite markers in Acca sellowiana (Berg) Burret.

PubMed

Santos, K L; Santos, M O; Laborda, P R; Souza, A P; Peroni, N; Nodari, R O

2008-11-01

Acca sellowiana has commercial potential because of the quality and the unique flavor of its fruit. Conservation of natural populations and management of breeding programmes would benefit from the availability of molecular markers that could be used to characterize levels and distribution of genetic variability. Thus, 13 microsatellite markers were developed from an enriched genomic library of A. sellowiana. They were characterized using 40 samples. The expected and observed heterozygosities ranged from 0.513 to 0.913 and from 0.200 to 0.889, respectively. These are the first microsatellite loci characterized from A. sellowiana that will contribute to improve researches on the genetic conservation, characterization and breeding. Journal compilation © 2008 Blackwell Publishing Ltd. No claim to original US government works.

How balance task-specific training contributes to improving physical function in older subjects undergoing rehabilitation following hip fracture: a randomized controlled trial.

PubMed

Monticone, Marco; Ambrosini, Emilia; Brunati, Roberto; Capone, Antonio; Pagliari, Giulia; Secci, Claudio; Zatti, Giovanni; Ferrante, Simona

2018-03-01

To evaluate the efficacy of a rehabilitation programme including balance task-specific training in improving physical function, pain, activities of daily living (ADL), balance and quality of life in subjects after a hip fracture. Randomized controlled trial. A total of 52 older subjects selected for internal fixation due to extra-capsular hip fracture were randomized to be included in an experimental ( n = 26) and control group ( n = 26). The experimental group underwent a rehabilitation programme based on balance task-specific training. The control group underwent general physiotherapy, including open kinetic chain exercises and walking training. Both groups individually followed programmes of 90-minute sessions five times/week for three weeks. The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), a Pain Numerical Rating Scale, the Berg Balance Scale, the Functional Independence Measure and the 36-item Short-Form Health Survey. The participants were evaluated before and after training, and after 12 months. Significant effects of time, group and time × group were found for all outcome measures in favour of the experimental group. A clinically important between-group difference of 25 points was achieved after training and at follow-up in terms of the primary outcome (WOMAC function before treatment, after treatment and at follow-up was 84.8 (3.7), 39.8 (4.9) and 35.7 (6.2) for the experimental group and 80.9 (5.7), 65.2 (7.1) and 61.0 (11.1) for the control group). An inpatient rehabilitation programme based on balance task-specific training is useful in improving physical function, pain, ADL and quality of life in older patients after hip fracture.

Enabling technologies to improve area-wide integrated pest management programmes for the control of screwworms.

PubMed

Robinson, A S; Vreysen, M J B; Hendrichs, J; Feldmann, U

2009-06-01

The economic devastation caused in the past by the New World screwworm fly Cochliomyia hominivorax (Coquerel) (Diptera: Calliphoridae) to the livestock industry in the U.S.A., Mexico and the rest of Central America was staggering. The eradication of this major livestock pest from North and Central America using the sterile insect technique (SIT) as part of an area-wide integrated pest management (AW-IPM) programme was a phenomenal technical and managerial accomplishment with enormous economic implications. The area is maintained screwworm-free by the weekly release of 40 million sterile flies in the Darien Gap in Panama, which prevents migration from screwworm-infested areas in Columbia. However, the species is still a major pest in many areas of the Caribbean and South America and there is considerable interest in extending the eradication programme to these countries. Understanding New World screwworm fly populations in the Caribbean and South America, which represent a continuous threat to the screwworm-free areas of Central America and the U.S.A., is a prerequisite to any future eradication campaigns. The Old World screwworm fly Chrysomya bezziana Villeneuve (Diptera: Calliphoridae) has a very wide distribution ranging from Southern Africa to Papua New Guinea and, although its economic importance is assumed to be less than that of its New World counterpart, it is a serious pest in extensive livestock production and a constant threat to pest-free areas such as Australia. In the 1980s repeated introductions and an expansion of Old World screwworm populations were reported in the Middle East; in the 1990s it invaded Iraq and since late 2007 it has been reported in Yemen, where a severe outbreak of myiasis occurred in 2008. Small-scale field trials have shown the potential of integrating the SIT in the control of this pest and various international organizations are considering using the release of sterile insects as part of an AW-IPM approach on a much wider scale. Wohlfahrtia magnifica (Schiner) (Diptera: Sarcophagidae) is a screwworm of temperate regions, which, although of limited agricultural importance, has invaded several new locations in the past few years. This special issue reports on the results of a 6-year project funded by the Joint Food and Agriculture Organization of the United Nations/International Atomic Energy Agency (FAO/IAEA) Programme of Nuclear Techniques in Food and Agriculture entitled 'Enabling Technologies for the Expansion of the SIT for Old and New World Screwworm'. A major goal of the project was to better understand population genetic variation in screwworms as an aid to the identification of isolated populations. The project also addressed issues related to genetic sexing, cuticular hydrocarbons, population dynamics, genetic transformation and chromosome analysis.

PORT (Programme of Recognition and Therapy): the first Polish recognition and treatment programme for patients with an at-risk mental state.

PubMed

Kotlicka-Antczak, Magdalena; Pawełczyk, Tomasz; Rabe-Jabłońska, Jolanta; Pawełczyk, Agnieszka

2015-08-01

To present the activities of the first early intervention centre in Poland and the Programme of Recognition and Therapy (PORT) run by the centre. An overview of the admission process, diagnostic procedures and therapeutic interventions offered to individuals with an at-risk mental state. The PORT programme, developed in 2010, included 81 individuals, aged 15-29 years so far. The diagnostic procedures consists of evaluation of symptoms with the use of the Comprehensive Assessment of At-Risk Mental State (CAARMS), assessment of premorbid and current personality traits and the evaluation of cognitive functions. Therapeutic interventions include cognitive behavioural therapy, diet supplementation with omega-3 fatty acids and pharmacological treatment. Overall rate of conversion into psychosis within the years 2010-2103 was 18.5%. The programme has also been a source of research in the field of early psychosis. The PORT programme enables young people with an ARMS an easy access to the specialized service offering treatment tailored to their specific needs. © 2014 Wiley Publishing Asia Pty Ltd.

[The IPT integrative program of psychological therapy for schizophrenia patients: new perspectives].

PubMed

Pomini, Valentino

2004-04-01

The integrated psychological treatment for schizophrenic patients IPT is composed by six modules that can be implemented either separately or in an articulated way. In that case, the treatment begins with a cognitive remediation phase which is followed by a social skills training phase. In the first phase, exercises specifically focalize on selective attention, memory, logical reasoning, perception and communication skills. The second phase of the program offers three other modules that train other skills: 1) social skills, 2) emotional management, 3) interpersonal problem solving. The IPT program belong to the so called second generation of social skills training programmes. It has been validated by numerous controlled studies, either in its complete form or in partial forms containing only one ore more of its sub-programmes. The results of these studies are globally positive. They show that IPT is an interesting therapeutic contribution for the rehabilitation practice with schizophrenic patients. A third generation of social skills training has been elaborated on the basis of the current IPT program. These new adjunctions to the IPT tend to favour the utilization in the real life of the competencies trained in the sessions, either by adding specific homeworks, in-vivo or booster sessions, or by designating new programmes directed to specific rehabilitation objectives, such as the integration in a apartment, the management of leisure times or the return to a workplace. These new programmes have been studied. They are promising and seem to be a useful complement to the original IPT.

Genome engineering in human cells.

PubMed

Song, Minjung; Kim, Young-Hoon; Kim, Jin-Soo; Kim, Hyongbum

2014-01-01

Genome editing in human cells is of great value in research, medicine, and biotechnology. Programmable nucleases including zinc-finger nucleases, transcription activator-like effector nucleases, and RNA-guided engineered nucleases recognize a specific target sequence and make a double-strand break at that site, which can result in gene disruption, gene insertion, gene correction, or chromosomal rearrangements. The target sequence complexities of these programmable nucleases are higher than 3.2 mega base pairs, the size of the haploid human genome. Here, we briefly introduce the structure of the human genome and the characteristics of each programmable nuclease, and review their applications in human cells including pluripotent stem cells. In addition, we discuss various delivery methods for nucleases, programmable nickases, and enrichment of gene-edited human cells, all of which facilitate efficient and precise genome editing in human cells.

Review of Adaptive Programmable Materials and Their Bioapplications.

PubMed

Fan, Xiaoshan; Chung, Jing Yang; Lim, Yong Xiang; Li, Zibiao; Loh, Xian Jun

2016-12-14

Adaptive programmable materials have attracted increasing attention due to their high functionality, autonomous behavior, encapsulation, and site-specific confinement capabilities in various applications. Compared to conventional materials, adaptive programmable materials possess unique single-material architecture that can maintain, respond, and change their shapes and dimensions when they are subjected to surrounding environment changes, such as alternation in temperature, pH, and ionic strength. In this review, the most-recent advances in the design strategies of adaptive programmable materials are presented with respect to different types of architectural polymers, including stimuli-responsive polymers and shape-memory polymers. The diverse functions of these sophisticated materials and their significance in therapeutic agent delivery systems are also summarized in this review. Finally, the challenges for facile fabrication of these materials and future prospective are also discussed.

The value of health screening in music schools and conservatoires.

PubMed

Clark, Terry; Williamon, Aaron; Redding, Emma

2013-04-01

Interest in musicians' health and well-being is growing, reflected by increasing numbers of investigations into the physicality and psychology of musical performance. Within sport and dance, screening and profiling programmes, especially of the musculoskeletal system, have furthered understanding on not only physical and psychological capabilities and demands but also musculoskeletal injury mechanisms and susceptibility. This article engages with questions relating to the development and delivery of musician-specific health screening programmes. Effective screening can offer a variety of benefits for musicians, providing informed recommendations for sustaining performance-related fitness across educational and professional contexts. Employing an interdisciplinary approach when developing screening programmes is essential, as is the ecological appropriateness of the measures used. The implications inherent in delivering and sustaining successful screening programmes in schools and conservatoires are discussed.

[Ergonomic movement in dentistry].

PubMed

Bos-Huizer, J J A; Bolderman, F W

2014-02-01

'Ergonomic movement in dentistry' is a recently developed ergonomic programme for dental healthcare professionals which is intended to prevent work-related complaints and assist in recovering from them. The programme is recommended by disability insurers in cases of specific physical complaints, limitations or disability, as a consequence of which a dental healthcare professional is unable to carry out his or her work. In a four-day training programme, in one's own workplace, skills are taught in the areas of work organization, work attitude and movement. These skills are directly applied in the treatment ofpatients and, if necessary, further improved. In this way, one advances step by step to an ergonomic way of working. Evaluations have shown that the programme is advantageous for the attitude toward work, the workplace and the work organization as well as the reduction of disability.

Differential Regulation of Cryptic Genetic Variation Shapes the Genetic Interactome Underlying Complex Traits.

PubMed

Yadav, Anupama; Dhole, Kaustubh; Sinha, Himanshu

2016-12-01

Cryptic genetic variation (CGV) refers to genetic variants whose effects are buffered in most conditions but manifest phenotypically upon specific genetic and environmental perturbations. Despite having a central role in adaptation, contribution of CGV to regulation of quantitative traits is unclear. Instead, a relatively simplistic architecture of additive genetic loci is known to regulate phenotypic variation in most traits. In this paper, we investigate the regulation of CGV and its implication on the genetic architecture of quantitative traits at a genome-wide level. We use a previously published dataset of biparental recombinant population of Saccharomyces cerevisiae phenotyped in 34 diverse environments to perform single locus, two-locus, and covariance mapping. We identify loci that have independent additive effects as well as those which regulate the phenotypic manifestation of other genetic variants (variance QTL). We find that whereas additive genetic variance is predominant, a higher order genetic interaction network regulates variation in certain environments. Despite containing pleiotropic loci, with effects across environments, these genetic networks are highly environment specific. CGV is buffered under most allelic combinations of these networks and perturbed only in rare combinations resulting in high phenotypic variance. The presence of such environment specific genetic networks is the underlying cause of abundant gene–environment interactions. We demonstrate that overlaying identified molecular networks on such genetic networks can identify potential candidate genes and underlying mechanisms regulating phenotypic variation. Such an integrated approach applied to human disease datasets has the potential to improve the ability to predict disease predisposition and identify specific therapeutic targets.

Differential Regulation of Cryptic Genetic Variation Shapes the Genetic Interactome Underlying Complex Traits

PubMed Central

Yadav, Anupama; Dhole, Kaustubh

2016-01-01

Cryptic genetic variation (CGV) refers to genetic variants whose effects are buffered in most conditions but manifest phenotypically upon specific genetic and environmental perturbations. Despite having a central role in adaptation, contribution of CGV to regulation of quantitative traits is unclear. Instead, a relatively simplistic architecture of additive genetic loci is known to regulate phenotypic variation in most traits. In this paper, we investigate the regulation of CGV and its implication on the genetic architecture of quantitative traits at a genome-wide level. We use a previously published dataset of biparental recombinant population of Saccharomyces cerevisiae phenotyped in 34 diverse environments to perform single locus, two-locus, and covariance mapping. We identify loci that have independent additive effects as well as those which regulate the phenotypic manifestation of other genetic variants (variance QTL). We find that whereas additive genetic variance is predominant, a higher order genetic interaction network regulates variation in certain environments. Despite containing pleiotropic loci, with effects across environments, these genetic networks are highly environment specific. CGV is buffered under most allelic combinations of these networks and perturbed only in rare combinations resulting in high phenotypic variance. The presence of such environment specific genetic networks is the underlying cause of abundant gene–environment interactions. We demonstrate that overlaying identified molecular networks on such genetic networks can identify potential candidate genes and underlying mechanisms regulating phenotypic variation. Such an integrated approach applied to human disease datasets has the potential to improve the ability to predict disease predisposition and identify specific therapeutic targets. PMID:28172852

Direct and indirect genetic and fine-scale location effects on breeding date in song sparrows.

PubMed

Germain, Ryan R; Wolak, Matthew E; Arcese, Peter; Losdat, Sylvain; Reid, Jane M

2016-11-01

Quantifying direct and indirect genetic effects of interacting females and males on variation in jointly expressed life-history traits is central to predicting microevolutionary dynamics. However, accurately estimating sex-specific additive genetic variances in such traits remains difficult in wild populations, especially if related individuals inhabit similar fine-scale environments. Breeding date is a key life-history trait that responds to environmental phenology and mediates individual and population responses to environmental change. However, no studies have estimated female (direct) and male (indirect) additive genetic and inbreeding effects on breeding date, and estimated the cross-sex genetic correlation, while simultaneously accounting for fine-scale environmental effects of breeding locations, impeding prediction of microevolutionary dynamics. We fitted animal models to 38 years of song sparrow (Melospiza melodia) phenology and pedigree data to estimate sex-specific additive genetic variances in breeding date, and the cross-sex genetic correlation, thereby estimating the total additive genetic variance while simultaneously estimating sex-specific inbreeding depression. We further fitted three forms of spatial animal model to explicitly estimate variance in breeding date attributable to breeding location, overlap among breeding locations and spatial autocorrelation. We thereby quantified fine-scale location variances in breeding date and quantified the degree to which estimating such variances affected the estimated additive genetic variances. The non-spatial animal model estimated nonzero female and male additive genetic variances in breeding date (sex-specific heritabilities: 0·07 and 0·02, respectively) and a strong, positive cross-sex genetic correlation (0·99), creating substantial total additive genetic variance (0·18). Breeding date varied with female, but not male inbreeding coefficient, revealing direct, but not indirect, inbreeding depression. All three spatial animal models estimated small location variance in breeding date, but because relatedness and breeding location were virtually uncorrelated, modelling location variance did not alter the estimated additive genetic variances. Our results show that sex-specific additive genetic effects on breeding date can be strongly positively correlated, which would affect any predicted rates of microevolutionary change in response to sexually antagonistic or congruent selection. Further, we show that inbreeding effects on breeding date can also be sex specific and that genetic effects can exceed phenotypic variation stemming from fine-scale location-based variation within a wild population. © 2016 The Authors. Journal of Animal Ecology © 2016 British Ecological Society.

Programmes and calls for public health research in European countries.

PubMed

Conceição, Claudia; Grimaud, Olivier; McCarthy, Mark; Barnhoorn, Floris; Sammut, Marvic; Saliba, Amanda; Katreniakova, Zuzana; Narkauskaité, Laura

2013-11-01

Public health research, at population and organizational level, needs to be identified independently within 'health' research from biomedicine and life sciences. In PHIRE (Public Health Innovation and Research in Europe), we investigated the extent and character of public health research calls and programmes in European countries. Country respondents, identified through national member associations of the European Public Health Association completed a standardized recording instrument. Public health research was defined, and the call period limited to the latest full year (2010). Of the 30 countries included (EU 27 plus Iceland, Norway and Switzerland), there were reports for 25 countries A simple classification of the calls was developed. There were 75 calls and programmes included. Of these, 41 (55%) together were in France and the UK, and 34 in a further 14 countries, while 9 countries reported there were no calls or programmes opened in 2010. Calls were categorized across diseases, behaviours, determinants, services and methodologies. Some calls were broad, while others--particularly in the countries with several calls--were more detailed towards specific issues. Levels of funding varied markedly and were difficult to define. Where stated, in 32 responses, 19 calls were only open to national applicants and 13 from abroad. Most European countries have competitive programmes and calls relevant for public health research, but they are poorly identified. Only a minority of countries present a wide range of topics and specific fields. Effort is needed to develop classifications for public health programmes and calls for public health research, improve information (including financial) collection to enable systematic comparisons and build greater recognition of public health research within research communities, with national and European research funding organizations, and for practitioners and policymakers.

A systematic review of the main mechanisms of heart failure disease management interventions.

PubMed

Clark, Alexander M; Wiens, Kelly S; Banner, Davina; Kryworuchko, Jennifer; Thirsk, Lorraine; McLean, Lianne; Currie, Kay

2016-05-01

To identify the main mechanisms of heart failure (HF) disease management programmes based in hospitals, homes or the community. Systematic review of qualitative and quantitative studies using realist synthesis. The search strategy incorporated general and specific terms relevant to the research question: HF, self-care and programmes/interventions for HF patients. To be included, papers had to be published in English after 1995 (due to changes in HF care over recent years) to May 2014 and contain specific data related to mechanisms of effect of HF programmes. 10 databases were searched; grey literature was located via Proquest Dissertations and Theses, Google and publications from organisations focused on HF or self-care. 33 studies (n=3355 participants, mean age: 65 years, 35% women) were identified (18 randomised controlled trials, three mixed methods studies, six pre-test post-test studies and six qualitative studies). The main mechanisms identified in the studies were associated with increased patient understanding of HF and its links to self-care, greater involvement of other people in this self-care, increased psychosocial well-being and support from health professionals to use technology. Future HF disease management programmes should seek to harness the main mechanisms through which programmes actually work to improve HF self-care and outcomes, rather than simply replicating components from other programmes. The most promising mechanisms to harness are associated with increased patient understanding and self-efficacy, involvement of other caregivers and health professionals and improving psychosocial well-being and technology use. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

School Area Road Safety Assessment and Improvements (SARSAI) programme reduces road traffic injuries among children in Tanzania.

PubMed

Poswayo, Ayikai; Kalolo, Simon; Rabonovitz, Katheryn; Witte, Jeffrey; Guerrero, Alejandro

2018-05-19

To determine the impact of a paediatric road traffic injury (RTI) prevention programme in urban Sub-Saharan Africa. Dares Salaam, Republic of Tanzania. Household surveys were conducted in catchment areas around 18 primary schools in Dar es Salaam, Republic of Tanzania; the catchment areas were divided into control and intervention groups. Collected data included basic demographic information on all school-aged household members and whether or not they had been involved in an RTI in the previous 12 months, and, if so, what the characteristics of that RTI were. Based on these findings, a separate road safety engineering site analysis and consultation with the communities and other stakeholders, an injury-prevention programme was developed and implemented, consisting of infrastructure enhancements and a site-specific educational programme. The programme was initially implemented at the intervention schools. After 1 year, data were collected in the same manner. The control group received the same intervention after follow-up data were collected. Data were collected on 12 957 school-aged children in the baseline period and 13 555 school-aged children in the post-intervention period, in both the control and intervention communities. There was a statistically significant reduction in RTIs in the intervention group and a non-significant increase in RTI in the control group. The greatest reduction was in motorcycle-pedestrian RTI, private vehicle-pedestrian RTI and morning RTI. The programme demonstrated a significant reduction in paediatric RTI after its implementation, in very specific ways. This study demonstrates that for a reasonable investment, scientifically driven injury-prevention programmes are feasible in resource-limited settings with high paediatric RTI rates. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Improving reading comprehension in reading and listening settings: the effect of two training programmes focusing on metacognition and working memory.

PubMed

Carretti, Barbara; Caldarola, Nadia; Tencati, Chiara; Cornoldi, Cesare

2014-06-01

Metacognition and working memory (WM) have been found associated with success in reading comprehension, but no studies have examined their combined effect on the training of reading comprehension. Another open question concerns the role of listening comprehension: In particular, it is not clear whether training to improve reading comprehension must necessarily be based on processing written material or whether, as suggested in a recent study by Clarke et al. (2010, Psychol. Sci., 21, 1106), a programme based on verbal language could also be effective. The study examined the feasibility of improving text comprehension in school children by comparing the efficacy of two training programmes, both involving metacognition and WM, but one based on listening comprehension, the other on reading comprehension. The study involved a sample of 159 pupils attending eight classes in the fourth and fifth grades (age range 9-11 years). The listening and reading programmes focused on the same abilities/processes strictly related to text comprehension, and particularly metacognitive knowledge and control, WM (per se and in terms of integrating information in a text). The training programmes were implemented by school teachers as part of the class's normal school activities, under the supervision of experts. Their efficacy was compared with the results obtained in an active control group that completed standard text comprehension activities. Our results showed that both the training programmes focusing on specific text comprehension skills were effective in improving the children's achievement, but training in reading comprehension generated greater gains than the listening comprehension programme. Our study suggests that activities focusing specifically on metacognition and WM could foster text comprehension, but the potential benefit is influenced by the training modality, that is, the Reading group obtained greater and longer-lasting improvements than the Active control or Listening groups. © 2013 The British Psychological Society.

Genetic recombination is directed away from functional genomic elements in mice.

PubMed

Brick, Kevin; Smagulova, Fatima; Khil, Pavel; Camerini-Otero, R Daniel; Petukhova, Galina V

2012-05-13

Genetic recombination occurs during meiosis, the key developmental programme of gametogenesis. Recombination in mammals has been recently linked to the activity of a histone H3 methyltransferase, PR domain containing 9 (PRDM9), the product of the only known speciation-associated gene in mammals. PRDM9 is thought to determine the preferred recombination sites--recombination hotspots--through sequence-specific binding of its highly polymorphic multi-Zn-finger domain. Nevertheless, Prdm9 knockout mice are proficient at initiating recombination. Here we map and analyse the genome-wide distribution of recombination initiation sites in Prdm9 knockout mice and in two mouse strains with different Prdm9 alleles and their F(1) hybrid. We show that PRDM9 determines the positions of practically all hotspots in the mouse genome, with the exception of the pseudo-autosomal region (PAR)--the only area of the genome that undergoes recombination in 100% of cells. Surprisingly, hotspots are still observed in Prdm9 knockout mice, and as in wild type, these hotspots are found at H3 lysine 4 (H3K4) trimethylation marks. However, in the absence of PRDM9, most recombination is initiated at promoters and at other sites of PRDM9-independent H3K4 trimethylation. Such sites are rarely targeted in wild-type mice, indicating an unexpected role of the PRDM9 protein in sequestering the recombination machinery away from gene-promoter regions and other functional genomic elements.

Multilevel Regulation of Bacterial Gene Expression with the Combined STAR and Antisense RNA System.

PubMed

Lee, Young Je; Kim, Soo-Jung; Moon, Tae Seok

2018-03-16

Synthetic small RNA regulators have emerged as a versatile tool to predictably control bacterial gene expression. Owing to their simple design principles, small size, and highly orthogonal behavior, these engineered genetic parts have been incorporated into genetic circuits. However, efforts to achieve more sophisticated cellular functions using RNA regulators have been hindered by our limited ability to integrate different RNA regulators into complex circuits. Here, we present a combined RNA regulatory system in Escherichia coli that uses small transcription activating RNA (STAR) and antisense RNA (asRNA) to activate or deactivate target gene expression in a programmable manner. Specifically, we demonstrated that the activated target output by the STAR system can be deactivated by expressing two different types of asRNAs: one binds to and sequesters the STAR regulator, affecting the transcription process, while the other binds to the target mRNA, affecting the translation process. We improved deactivation efficiencies (up to 96%) by optimizing each type of asRNA and then integrating the two optimized asRNAs into a single circuit. Furthermore, we demonstrated that the combined STAR and asRNA system can control gene expression in a reversible way and can regulate expression of a gene in the genome. Lastly, we constructed and simultaneously tested two A AND NOT B logic gates in the same cell to show sophisticated multigene regulation by the combined system. Our approach establishes a methodology for integrating multiple RNA regulators to rationally control multiple genes.

The Sector-Wide Approach in Bangladesh Primary Education: A Critical View. CREATE Pathways to Access. Research Monograph No. 57

ERIC Educational Resources Information Center

Ahmed, Manzoor

2011-01-01

This monograph, in the CREATE Pathways to Access series, is about the modality of cooperation and programme management in primary education in Bangladesh, based specifically on the experience of the Second Primary Education Development Programme (PEDP II). It is not intended to be an assessment of PEDP II accomplishments, but key information and a…

Helping Children Talk about Shapes: A Case Study with Ten Children in the Learning Support Programme

ERIC Educational Resources Information Center

Fong, Ng Swee

2006-01-01

This paper describes an activity which attempts to change the discourse of a mathematics classroom with the specific intent to help children who may have difficulties with mathematics and ways of communicating. Ten 8-year old children in the Learning Support Programme were engaged in an open-ended geometric task. In this paper a brief description…

Programmable bio-nano-chip system for saliva diagnostics

NASA Astrophysics Data System (ADS)

Christodoulides, Nicolaos; De La Garza, Richard; Simmons, Glennon W.; McRae, Michael P.; Wong, Jorge; Kosten, Thomas R.; Miller, Craig S.; Ebersole, Jeffrey L.; McDevitt, John

2014-06-01

This manuscript describes programmable Bio-Nano-Chip (p-BNC) approach that serves as miniaturized assay platform designed for the rapid detection and quantitation of multiple analytes in biological fluids along with the specific applications in salivary diagnostics intended for the point of need (PON). Included here are oral fluid-based tests for local periodontal disease, systemic cardiac disease and multiplexed tests for drugs of abuse.