NCI Dictionary of Genetics Terms

Science.gov (United States)

A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects.

Science.gov (United States)

Bennett, Catherine; Burton, Hilary; Farndon, Peter

2007-01-01

In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

Science.gov (United States)

Mulard, Hervé; Danchin, E.; Talbot, S.L.; Ramey, A.M.; Hatch, Shyla A.; White, J.F.; Helfenstein, F.; Wagner, R.H.

2009-01-01

Background. Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results. Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i) genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii) offspring heterozygosity was positively correlated with growth rate and survival. Conclusion. These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure. ?? 2009 Mulard et al; licensee BioMed Central Ltd.

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

Directory of Open Access Journals (Sweden)

Ramey Andrew M

2009-06-01

Full Text Available Abstract Background Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii offspring heterozygosity was positively correlated with growth rate and survival. Conclusion These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure.

Evidence and Obesity Prevention: Developing Evidence Summaries to Support Decision Making

Science.gov (United States)

Clark, Rachel; Waters, Elizabeth; Armstrong, Rebecca; Conning, Rebecca; Allender, Steven; Swinburn, Boyd

2013-01-01

Public health practitioners make decisions based on research evidence in combination with a variety of other influences. Evidence summaries are one of a range of knowledge translation options used to support evidence-informed decision making. The literature relevant to obesity prevention requires synthesis for it to be accessible and relevant to…

Evidence for weak genetic recombination at the PTP2 locus of Nosema ceranae.

Science.gov (United States)

Gómez-Moracho, Tamara; Bartolomé, Carolina; Martín-Hernández, Raquel; Higes, Mariano; Maside, Xulio

2015-04-01

The microsporidian Nosema ceranae is an emergent pathogen that threatens the health of honeybees and other pollinators all over the world. Its recent rapid spread across a wide variety of host species and environments demonstrated an enhanced ability of adaptation, which seems to contradict the lack of evidence for genetic recombination and the absence of a sexual stage in its life cycle. Here we retrieved fresh data of the patterns of genetic variation at the PTP2 locus in naturally infected Apis mellifera colonies, by means of single genome amplification. This technique, designed to prevent the formation of chimeric haplotypes during polymerase chain reaction (PCR), provides more reliable estimates of the diversity levels and haplotype structure than standard PCR-cloning methods. Our results are consistent with low but significant rates of recombination in the history of the haplotypes detected: estimates of the population recombination rate are of the order of 30 and support recent evidence for unexpectedly high levels of variation of the parasites within honeybee colonies. These observations suggest the existence of a diploid stage at some point in the life cycle of this parasite and are relevant for our understanding of the dynamics of its expanding population. © 2014 Society for Applied Microbiology and John Wiley & Sons Ltd.

Genetic Contributions to Clinical Pain and Analgesia: Avoiding Pitfalls in Genetic Research

Science.gov (United States)

Kim, Hyungsuk; Clark, David; Dionne, Raymond A.

2010-01-01

Understanding the genetic basis of human variations in pain is critical to elucidating the molecular basis of pain sensitivity, variable responses to analgesic drugs, and, ultimately, to individualized treatment of pain and improved public health. With the help of recently accumulated knowledge and advanced technologies, pain researchers hope to gain insight into genetic mechanisms of pain and eventually apply this knowledge to pain treatment. Perspective We critically reviewed the published literature to examine the strength of evidence supporting genetic influences on clinical and human experimental pain. Based on this evidence and the experience of false associations that have occurred in other related disciplines, we provide recommendations for avoiding pitfalls in pain genetic research. PMID:19559388

Genetic and biochemical evidences reveal novel insights into the ...

Indian Academy of Sciences (India)

Home; Journals; Journal of Biosciences; Volume 41; Issue 4. Genetic and biochemical evidences reveal novel insights into the mechanism underlying Saccharomyces cerevisiae Sae2-mediated abrogation of DNA replication stress. INDRAJEET GHODKE K MUNIYAPPA. ARTICLE Volume 41 Issue 4 December 2016 pp ...

Genetics of Schizophrenia: Historical Insights and Prevailing Evidence.

Science.gov (United States)

van de Leemput, J; Hess, J L; Glatt, S J; Tsuang, M T

2016-01-01

Schizophrenia's (SZ's) heritability and familial transmission have been known for several decades; however, despite the clear evidence for a genetic component, it has been very difficult to pinpoint specific causative genes. Even so genetic studies have taught us a lot, even in the pregenomic era, about the molecular underpinnings and disease-relevant pathways. Recurring themes emerged revealing the involvement of neurodevelopmental processes, glutamate regulation, and immune system differential activation in SZ etiology. The recent emergence of epigenetic studies aimed at shedding light on the biological mechanisms underlying SZ has provided another layer of information in the investigation of gene and environment interactions. However, this epigenetic insight also brings forth another layer of complexity to the (epi)genomic landscape such as interactions between genetic variants, epigenetic marks-including cross-talk between DNA methylation and histone modification processes-, gene expression regulation, and environmental influences. In this review, we seek to synthesize perspectives, including limitations and obstacles yet to overcome, from genetic and epigenetic literature on SZ through a qualitative review of risk factors and prevailing hypotheses. Encouraged by the findings of both genetic and epigenetic studies to date, as well as the continued development of new technologies to collect and interpret large-scale studies, we are left with a positive outlook for the future of elucidating the molecular genetic mechanisms underlying SZ and other complex neuropsychiatric disorders. Copyright © 2016 Elsevier Inc. All rights reserved.

Genetic evidence for patrilocal mating behavior among Neandertal groups

DEFF Research Database (Denmark)

Lalueza-Fox, Carles; Rosas, Antonio; Estalrrich, Almudena

2011-01-01

The remains of 12 Neandertal individuals have been found at the El Sidrón site (Asturias, Spain), consisting of six adults, three adolescents, two juveniles, and one infant. Archaeological, paleontological, and geological evidence indicates that these individuals represent all or part of a contem...... of the three adult females carried different mtDNA lineages. These findings provide evidence to indicate that Neandertal groups not only were small and characterized by low genetic diversity but also were likely to have practiced patrilocal mating behavior....

Organisational support for evidence-based practice: occupational therapists perceptions.

Science.gov (United States)

Bennett, Sally; Allen, Shelley; Caldwell, Elizabeth; Whitehead, Mary; Turpin, Merrill; Fleming, Jennifer; Cox, Ruth

2016-02-01

Barriers to the use of evidence-based practice extend beyond the individual clinician and often include organisational barriers. Adoption of systematic organisational support for evidence-based practice in health care is integral to its use. This study aimed to explore the perceptions of occupational therapy staff regarding the influence of organisational initiatives to support evidence-based practice on workplace culture and clinical practice. This study used semi-structured interviews with 30 occupational therapists working in a major metropolitan hospital in Brisbane, Australia regarding their perceptions of organisational initiatives designed to support evidence-based practice. Four themes emerged from the data: (i) firmly embedding a culture valuing research and EBP, (ii) aligning professional identity with the Research and Evidence in Practice model, (iii) experiences of change: pride, confidence and pressure and (iv) making evidence-based changes to clinical practices. Organisational initiatives for evidence-based practice were perceived as influencing the culture of the workplace, therapists' sense of identity as clinicians, and as contributing to changes in clinical practice. It is therefore important to consider organisational factors when attempting to increase the use of evidence in practice. © 2016 Occupational Therapy Australia.

Impact of Behavioral Genetic Evidence on the Adjudication of Criminal Behavior

OpenAIRE

Appelbaum, Paul S.; Scurich, Nicholas

2014-01-01

Recent advances in behavioral genetics suggest a modest relationship among certain gene variants, early childhood experiences, and criminal behavior. Although scientific research examining this link is still at an early stage, genetic data are already being introduced in criminal trials. However, the extent to which such evidence is likely to affect jurors’ decisions has not previously been explored. In the present study, a representative sample of the U.S. population (n=250) received a vigne...

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa

NARCIS (Netherlands)

Bleeker-Wagemakers, L. M.; Gal, A.; Kumar-Singh, R.; van den Born, L. I.; Li, Y.; Schwinger, E.; Sandkuijl, L. A.; Bergen, A. A.; Kenna, P.; Humphries, P.

1992-01-01

Recent evidence suggesting the involvement of mutant rhodopsin proteins in the pathogenesis of autosomal recessive retinitis pigmentosa has prompted us to investigate whether this form of the disease shows non-allelic genetic heterogeneity, as has previously been shown to be the case in autosomal

Genetic evidence for hybrid trait speciation in heliconius butterflies.

Directory of Open Access Journals (Sweden)

Camilo Salazar

2010-04-01

Full Text Available Homoploid hybrid speciation is the formation of a new hybrid species without change in chromosome number. So far, there has been a lack of direct molecular evidence for hybridization generating novel traits directly involved in animal speciation. Heliconius butterflies exhibit bright aposematic color patterns that also act as cues in assortative mating. Heliconius heurippa has been proposed as a hybrid species, and its color pattern can be recreated by introgression of the H. m. melpomene red band into the genetic background of the yellow banded H. cydno cordula. This hybrid color pattern is also involved in mate choice and leads to reproductive isolation between H. heurippa and its close relatives. Here, we provide molecular evidence for adaptive introgression by sequencing genes across the Heliconius red band locus and comparing them to unlinked wing patterning genes in H. melpomene, H. cydno, and H. heurippa. 670 SNPs distributed among 29 unlinked coding genes (25,847bp showed H. heurippa was related to H. c. cordula or the three species were intermixed. In contrast, among 344 SNPs distributed among 13 genes in the red band region (18,629bp, most showed H. heurippa related with H. c. cordula, but a block of around 6,5kb located in the 3' of a putative kinesin gene grouped H. heurippa with H. m. melpomene, supporting the hybrid introgression hypothesis. Genealogical reconstruction showed that this introgression occurred after divergence of the parental species, perhaps around 0.43Mya. Expression of the kinesin gene is spatially restricted to the distal region of the forewing, suggesting a mechanism for pattern regulation. This gene therefore constitutes the first molecular evidence for adaptive introgression during hybrid speciation and is the first clear candidate for a Heliconius wing patterning locus.

Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.

Science.gov (United States)

Xita, Nectaria; Tsatsoulis, Agathocles

2006-05-01

Polycystic ovary syndrome (PCOS) is a common endocrine disorder of premenopausal women, characterized by hyperandrogenism, polycystic ovaries, and chronic anovulation along with insulin resistance and abdominal obesity as frequent metabolic traits. Although PCOS manifests clinically during adolescence, emerging data suggest that the natural history of PCOS may originate in intrauterine life. Evidence from experimental, clinical, and genetic research supporting the hypothesis for the fetal origins of PCOS has been analyzed. Female primates, exposed in utero to androgen excess, exhibit the phenotypic features of PCOS during adult life. Clinical observations also support a potential fetal origin of PCOS. Women with fetal androgen excess disorders, including congenital 21-hydroxylase deficiency and congenital adrenal virilizing tumors, develop features characteristic of PCOS during adulthood despite the normalization of androgen excess after birth. The potential mechanisms of fetal androgen excess leading to a PCOS phenotype in humans are not clearly understood. However, maternal and/or fetal hyperandrogenism can provide a plausible mechanism for fetal programing of PCOS, and this, in part, may be genetically determined. Thus, genetic association studies have indicated that common polymorphic variants of genes determining androgen activity or genes that influence the availability of androgens to target tissues are associated with PCOS and increased androgen levels. These genomic variants may provide the genetic link to prenatal androgenization in human PCOS. Prenatal androgenization of the female fetus induced by genetic and environmental factors, or the interaction of both, may program differentiating target tissues toward the development of PCOS phenotype in adult life.

Computerised Genetic Risk Assessment and Decision Support in Primary Care

Directory of Open Access Journals (Sweden)

Andrew Coulson

2000-09-01

To address these issues, a new computer application called RAGs (Risk Assessment in Genetics has been designed. The system allows a doctor to create family trees and assess genetic risk of breast cancer. RAGs possesses two features that distinguish it from similar software: (a a user-centred design, which takes into account the requirements of the doctor-patient encounter; (b risk reporting using qualitative evidence for or against an increased risk, which the authors believe to be more useful and accessible than numerical probabilities are. In that the system allows for any genetic risk guideline to be implemented, it can be used with all diseases for which evaluation guidelines exist. The software may be easily modified to cater for the amount of detail required by different specialists.

Population genetic structure in a Robertsonian race of house mice: evidence from microsatellite polymorphism

NARCIS (Netherlands)

Dallas, J.F.; Bonhomme, F.; Boursot, P.; Britton-Davidian, J.; Bauchau, V.

1998-01-01

Genetic evidence was assessed for inbreeding and population subdivision in a Robertsonian fusion (Rb) race of the western European form of house mouse, Mus musculus domesticus, in central Belgium. Inbreeding, and the factors responsible for subdivision (genetic drift and extinction-recolonization)

Tourette's Disorder: Genetic Update, Neurological Correlates, and Evidence-Based Interventions

Science.gov (United States)

Phelps, LeAdelle

2008-01-01

This article provides an update of the search for genetic markers related to Tourette's Disorder. The probable neurophysiology of the disorder is reviewed. Frequently prescribed medications are related to the probable biological bases of the disorder. Behavioral interventions and assessment tools are examined. It is concluded that evidence based…

Evidence from mammalian studies on genetic effects of low level irradiation

International Nuclear Information System (INIS)

Searle, A.G.

1989-01-01

The major components of genetic damage and associated human risks are discussed, together with the experimental evidence on induction rates of chromosome anomalies in mice, and monkeys male and female germ cells, using low and high LET low level irradiation. (UK)

The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents.

Science.gov (United States)

Cunningham, Jenny; Goldsmith, Lesley; Skirton, Heather

2015-02-01

Preimplantation genetic diagnosis was developed as an alternative to prenatal diagnosis for couples with a family history of genetic disease. After in vitro fertilization, the embryos can be analysed to ensure that only healthy embryos are transferred to the uterus. Past studies have suggested that couples who wish to avoid having a child with an inherited genetic condition look favourably on preimplantation genetic diagnosis as it prevents the need for termination of pregnancy following prenatal diagnosis of an affected fetus. However, it is important to understand the experiences of couples who have used or consider using this technique. To ascertain the current evidence base on this topic, we conducted a mixed methods systematic review. Four databases were searched for relevant peer-reviewed papers published between 2000 and 2013. Of 453 papers, nine satisfied the inclusion criteria and were assessed for quality. Results of nine papers were analysed and synthesised using a narrative approach. Three main themes emerged: (1) motivating factors; (2) emotional labour; (3) choices and uncertainty. The review has identified an emotional and difficult journey for couples pursuing preimplantation genetic diagnosis. While use of the technique gives hope to families who wish to prevent transmission of a genetic disease this is not without hard decision-making and periods of uncertainty. Lack of information was perceived as a barrier to access this reproductive option. Recommendations include: training and education in genetics for midwives who are the first point of contact for pregnant women; clinics to use a decision-making tool to emphasise the uncertainty involved in PGD and improved communication and psychological support to couples. Copyright © 2014 Elsevier Ltd. All rights reserved.

Support Seeking or Familial Obligation: An Investigation of Motives for Disclosing Genetic Test Results.

Science.gov (United States)

Greenberg, Marisa; Smith, Rachel A

2016-01-01

Genetic test results reveal not only personal information about a person's likelihood of certain medical conditions but also information about the person's genetic relatives. Given the familial nature of genetic information, one's obligation to protect family members may be a motive for disclosing genetic test results, but this claim has not been methodically tested. Existing models of disclosure decision making presume self-interested motives, such as seeking social support, instead of other-interested motives, like familial obligation. This study investigated young adults' (N = 173) motives to share a genetic-based health condition, alpha-1 antitrypsin deficiency, after reading a hypothetical vignette. Results show that social support and familial obligation were both reported as motives for disclosure. In fact, some participants reported familial obligation as their primary motivator for disclosure. Finally, stronger familial obligation predicted increased likelihood of disclosing hypothetical genetic test results. Implications of these results were discussed in reference to theories of disclosure decision-making models and the practice of genetic disclosures.

Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models.

Science.gov (United States)

Moran, Paula; Stokes, Jennifer; Marr, Julia; Bock, Gavin; Desbonnet, Lieve; Waddington, John; O'Tuathaigh, Colm

2016-01-01

The study of gene × environment, as well as epistatic interactions in schizophrenia, has provided important insight into the complex etiopathologic basis of schizophrenia. It has also increased our understanding of the role of susceptibility genes in the disorder and is an important consideration as we seek to translate genetic advances into novel antipsychotic treatment targets. This review summarises data arising from research involving the modelling of gene × environment interactions in schizophrenia using preclinical genetic models. Evidence for synergistic effects on the expression of schizophrenia-relevant endophenotypes will be discussed. It is proposed that valid and multifactorial preclinical models are important tools for identifying critical areas, as well as underlying mechanisms, of convergence of genetic and environmental risk factors, and their interaction in schizophrenia.

Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models

Science.gov (United States)

Marr, Julia; Bock, Gavin; Desbonnet, Lieve; Waddington, John

2016-01-01

The study of gene × environment, as well as epistatic interactions in schizophrenia, has provided important insight into the complex etiopathologic basis of schizophrenia. It has also increased our understanding of the role of susceptibility genes in the disorder and is an important consideration as we seek to translate genetic advances into novel antipsychotic treatment targets. This review summarises data arising from research involving the modelling of gene × environment interactions in schizophrenia using preclinical genetic models. Evidence for synergistic effects on the expression of schizophrenia-relevant endophenotypes will be discussed. It is proposed that valid and multifactorial preclinical models are important tools for identifying critical areas, as well as underlying mechanisms, of convergence of genetic and environmental risk factors, and their interaction in schizophrenia. PMID:27725886

Evidence for an invasive aphid "superclone": extremely low genetic diversity in Oleander aphid (Aphis nerii populations in the southern United States.

Directory of Open Access Journals (Sweden)

John Scott Harrison

2011-03-01

Full Text Available The importance of genetic diversity in successful biological invasions is unclear. In animals, but not necessarily plants, increased genetic diversity is generally associated with successful colonization and establishment of novel habitats. The Oleander aphid, Aphis nerii, though native to the Mediterranean region, is an invasive pest species throughout much of the world. Feeding primarily on Oleander (Nerium oleander and Milkweed (Asclepias spp. under natural conditions, these plants are unlikely to support aphid populations year round in the southern US. The objective of this study was to describe the genetic variation within and among US populations of A. nerii, during extinction/recolonization events, to better understand the population ecology of this invasive species.We used five microsatellite markers to assess genetic diversity over a two year period within and among three aphid populations separated by small (100 km and large (3,700 km geographic distances on two host plant species. Here we provide evidence for A. nerii "superclones". Genotypic variation was absent in all populations (i.e., each population consisted of a single multilocus genotype (MLG or "clone" and the genetic composition of only one population completely changed across years. There was no evidence of sexual reproduction or host races on different plant species.Aphis nerii is a well established invasive species despite having extremely low genetic diversity. As this aphid appears to be obligatorily asexual, it may share more similarities with clonally reproducing invasive plants, than with other animals. Patterns of temporal and geographic genetic variation, viewed in the context of its population dynamics, have important implications for the management of invasive pests and the evolutionary biology of asexual species.

Evidence for a genetic etiology of early-onset delinquency.

Science.gov (United States)

Taylor, J; Iacono, W G; McGue, M

2000-11-01

Age at onset of antisocial behavior discriminates persistent and transitory offenders. The authors proposed that early-onset delinquency has an underlying genetic influence that manifests in problems related to inhibition, whereas late-onset delinquency is more environmentally mediated. To test these notions, they selected 36 early starters, 86 late starters, and 25 nondelinquent controls from a large sample of 11-year-old twins and compared them on several measures related to inhibition and a peer group measure. As expected, early starters had more psychological, behavioral, and emotional problems related to inhibition than late starters and controls. A longitudinal analysis indicated an increase an antisocial behavior among peers of late starters shortly before their delinquency onset. Family history data and a twin analysis provided evidence of greater genetic influence on early-onset than late-onset delinquency.

Autosomal STRs provide genetic evidence for the hypothesis that Tai people originate from southern China.

Directory of Open Access Journals (Sweden)

Hao Sun

Full Text Available Tai people are widely distributed in Thailand, Laos and southwestern China and are a large population of Southeast Asia. Although most anthropologists and historians agree that modern Tai people are from southwestern China and northern Thailand, the place from which they historically migrated remains controversial. Three popular hypotheses have been proposed: northern origin hypothesis, southern origin hypothesis or an indigenous origin. We compared the genetic relationships between the Tai in China and their "siblings" to test different hypotheses by analyzing 10 autosomal microsatellites. The genetic data of 916 samples from 19 populations were analyzed in this survey. The autosomal STR data from 15 of the 19 populations came from our previous study (Lin et al., 2010. 194 samples from four additional populations were genotyped in this study: Han (Yunnan, Dai (Dehong, Dai (Yuxi and Mongolian. The results of genetic distance comparisons, genetic structure analyses and admixture analyses all indicate that populations from northern origin hypothesis have large genetic distances and are clearly differentiated from the Tai. The simulation-based ABC analysis also indicates this. The posterior probability of the northern origin hypothesis is just 0.04 [95%CI: (0.01-0.06]. Conversely, genetic relationships were very close between the Tai and populations from southern origin or an indigenous origin hypothesis. Simulation-based ABC analyses were also used to distinguish the southern origin hypothesis from the indigenous origin hypothesis. The results indicate that the posterior probability of the southern origin hypothesis [0.640, 95%CI: (0.524-0.757] is greater than that of the indigenous origin hypothesis [0.324, 95%CI: (0.211-0.438]. Therefore, we propose that the genetic evidence does not support the hypothesis of northern origin. Our genetic data indicate that the southern origin hypothesis has higher probability than the other two hypotheses

Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models

Directory of Open Access Journals (Sweden)

Paula Moran

2016-01-01

Full Text Available The study of gene × environment, as well as epistatic interactions in schizophrenia, has provided important insight into the complex etiopathologic basis of schizophrenia. It has also increased our understanding of the role of susceptibility genes in the disorder and is an important consideration as we seek to translate genetic advances into novel antipsychotic treatment targets. This review summarises data arising from research involving the modelling of gene × environment interactions in schizophrenia using preclinical genetic models. Evidence for synergistic effects on the expression of schizophrenia-relevant endophenotypes will be discussed. It is proposed that valid and multifactorial preclinical models are important tools for identifying critical areas, as well as underlying mechanisms, of convergence of genetic and environmental risk factors, and their interaction in schizophrenia.

Evidence for Within-Host Genetic Recombination among the Human Pegiviral Strains in HIV Infected Subjects.

Science.gov (United States)

Wu, Haoming; Padhi, Abinash; Xu, Junqiang; Gong, Xiaoyan; Tien, Po

2016-01-01

The non-pathogenic Human Pegivirus (HPgV, formerly GBV-C/HGV), the most prevalent RNA virus worldwide, is known to be associated with reduced morbidity and mortality in HIV-infected individuals. Although previous studies documented its ubiquity and important role in HIV-infected individuals, little is known about the underlying genetic mechanisms that maintain high genetic diversity of HPgV within the HIV-infected individuals. To assess the within-host genetic diversity of HPgV and forces that maintain such diversity within the co-infected hosts, we performed phylogenetic analyses taking into account 229 HPgV partial E1-E2 clonal sequences representing 15 male and 8 female co-infected HIV patients from Hubei province of central China. Our results revealed the presence of eleven strongly supported clades. While nine clades belonged to genotype 3, two clades belonged to genotype 2. Additionally, four clades that belonged to genotype 3 exhibited inter-clade recombination events. The presence of clonal sequences representing multiple clades within the HIV-infected individual provided the evidence of co-circulation of HPgV strains across the region. Of the 23 patients, six patients (i.e., five males and one female) were detected to have HPgV recombinant sequences. Our results also revealed that while male patients shared the viral strains with other patients, viral strains from the female patients had restricted dispersal. Taken together, the present study revealed that multiple infections with divergent HPgV viral strains may have caused within-host genetic recombination, predominantly in male patients, and therefore, could be the major driver in shaping genetic diversity of HPgV.

Genetics in the art and art in genetics.

Science.gov (United States)

Bukvic, Nenad; Elling, John W

2015-01-15

"Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. Copyright © 2014 Elsevier B.V. All rights reserved.

Problems in Psychiatric Genetic Research: A Reply to Faraone and Biederman.

Science.gov (United States)

Joseph, Jay

2000-01-01

Answers the most important criticisms by Faraone and Biederman in their critique of Joseph's analysis of evidence supporting a genetic basis of attention deficit hyperactivity disorder. Argues that possible genetic and environmental influences in ADHD twin studies are confounded, obscuring inferences about genetic factors. (JPB)

Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder – a meta-analysis of genetic studies

Science.gov (United States)

Byrne, Enda M; Raheja, Uttam; Stephens, Sarah H.; Heath, Andrew C; Madden, Pamela AF; Vaswani, Dipika; Nijjar, Gagan V.; Ryan, Kathleen A.; Youssufi, Hassaan; Gehrman, Philip R; Shuldiner, Alan R; Martin, Nicholas G; Montgomery, Grant W; Wray, Naomi R; Nelson, Elliot C; Mitchell, Braxton D; Postolache, Teodor T

2015-01-01

Objective To test common genetic variants for association with seasonality (seasonal changes in mood and behavior) and to investigate whether there are shared genetic risk factors between psychiatric disorders and seasonality. Methods A meta-analysis of genome-wide association studies (GWAS) conducted in Australian and Amish populations in whom the Seasonal Pattern Assessment Questionnaire (SPAQ) had been administered. The total sample size was 4,156 individuals. Genetic risk scores based on results from prior large GWAS studies of bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia (SCZ) were calculated to test for overlap in risk between psychiatric disorders and seasonality. Results The most significant association was with rs11825064 (p = 1.7 × 10−6, β = 0.64, S.E = 0.13), an intergenic SNP found on chromosome 11. The evidence for overlap in risk factors was strongest for SCZ and seasonality, with the SCZ genetic profile scores explaining 3% of the variance in log-transformed GSS. BD genetic profile scores were also significantly associated with seasonality, although at much weaker levels, and no evidence for overlap in risk was detected between MDD and seasonality. Conclusions Common SNPs of very large effect likely do not exist for seasonality in the populations examined. As expected, there was overlapping genetic risk factors for BD (but not MDD) with seasonality. Unexpectedly, the risk for SCZ and seasonality had the largest overlap, an unprecedented finding that requires replication in other populations, and has potential clinical implications considering overlapping cognitive deficits in seasonal affective disorders and SCZ PMID:25562672

Genetic Evidence of Importation of Drug-Resistant Plasmodium falciparum to Guatemala from the Democratic Republic of the Congo.

Science.gov (United States)

Patel, Jaymin C; Taylor, Steve M; Juliao, Patricia C; Parobek, Christian M; Janko, Mark; Gonzalez, Luis Demetrio; Ortiz, Lucia; Padilla, Norma; Tshefu, Antoinette K; Emch, Michael; Udhayakumar, Venkatachalam; Lindblade, Kim; Meshnick, Steven R

2014-06-01

Imported malaria threatens control and elimination efforts in countries that have low rates of transmission. In 2010, an outbreak of Plasmodium falciparum malaria was reported among United Nations peacekeeping soldiers from Guatemala who had recently returned from the Democratic Republic of the Congo (DRC). Epidemiologic evidence suggested that the soldiers were infected in the DRC, but local transmission could not be ruled out in all cases. We used population genetic analyses of neutral microsatellites to determine the outbreak source. Genetic relatedness was compared among parasites found in samples from the soldiers and parasite populations collected in the DRC and Guatemala; parasites identified in the soldiers were more closely related to those from the DRC. A phylogenetic clustering analysis confirms this identification with >99.9% confidence. Thus, results support the hypothesis that the soldiers likely imported malaria from the DRC. This study demonstrates the utility of molecular genotyping in outbreak investigations.

Genetic factors in Threatened Species Recovery Plans on three continents

Science.gov (United States)

Threatened species' recovery planning is applied globally to stem the current species extinction crisis. Evidence supports a key role of genetic processes, such as inbreeding depression, in determining species viability. We examined whether genetic factors are considered in threa...

Supporting decision-making processes for evidence-based mental health promotion.

Science.gov (United States)

Jané-Llopis, Eva; Katschnig, Heinz; McDaid, David; Wahlbeck, Kristian

2011-12-01

The use of evidence is critical in guiding decision-making, but evidence from effect studies will be only one of a number of factors that will need to be taken into account in the decision-making processes. Equally important for policymakers will be the use of different types of evidence including implementation essentials and other decision-making principles such as social justice, political, ethical, equity issues, reflecting public attitudes and the level of resources available, rather than be based on health outcomes alone. This paper, aimed to support decision-makers, highlights the importance of commissioning high-quality evaluations, the key aspects to assess levels of evidence, the importance of supporting evidence-based implementation and what to look out for before, during and after implementation of mental health promotion and mental disorder prevention programmes.

Genetic Evidence Highlights Potential Impacts of By-Catch to Cetaceans

Science.gov (United States)

Mendez, Martin; Rosenbaum, Howard C.; Wells, Randall S.; Stamper, Andrew; Bordino, Pablo

2010-01-01

Incidental entanglement in fishing gear is arguably the most serious threat to many populations of small cetaceans, judging by the alarming number of captured animals. However, other aspects of this threat, such as the potential capture of mother-offspring pairs or reproductive pairs, could be equally or even more significant but have rarely been evaluated. Using a combination of demographic and genetic data we provide evidence that i) Franciscana dolphin pairs that are potentially reproductive and mother-offspring pairs form temporal bonds, and ii) are entangled simultaneously. Our results highlight potential demographic and genetic impacts of by-catch to cetacean populations: the joint entanglement of mother-offspring or reproductive pairs, compared to random individuals, might exacerbate the demographic consequences of by-catch, and the loss of groups of relatives means that significant components of genetic diversity could be lost together. Given the social nature of many odontocetes (toothed cetaceans), we suggest that these potential impacts could be rather general to the group and therefore by-catch could be more detrimental than previously considered. PMID:21179542

Evidence for an Invasive Aphid “Superclone”: Extremely Low Genetic Diversity in Oleander Aphid (Aphis nerii) Populations in the Southern United States

Science.gov (United States)

Harrison, John Scott; Mondor, Edward B.

2011-01-01

Background The importance of genetic diversity in successful biological invasions is unclear. In animals, but not necessarily plants, increased genetic diversity is generally associated with successful colonization and establishment of novel habitats. The Oleander aphid, Aphis nerii, though native to the Mediterranean region, is an invasive pest species throughout much of the world. Feeding primarily on Oleander (Nerium oleander) and Milkweed (Asclepias spp.) under natural conditions, these plants are unlikely to support aphid populations year round in the southern US. The objective of this study was to describe the genetic variation within and among US populations of A. nerii, during extinction/recolonization events, to better understand the population ecology of this invasive species. Methodology/Principal Findings We used five microsatellite markers to assess genetic diversity over a two year period within and among three aphid populations separated by small (100 km) and large (3,700 km) geographic distances on two host plant species. Here we provide evidence for A. nerii “superclones”. Genotypic variation was absent in all populations (i.e., each population consisted of a single multilocus genotype (MLG) or “clone”) and the genetic composition of only one population completely changed across years. There was no evidence of sexual reproduction or host races on different plant species. Conclusions/Significance Aphis nerii is a well established invasive species despite having extremely low genetic diversity. As this aphid appears to be obligatorily asexual, it may share more similarities with clonally reproducing invasive plants, than with other animals. Patterns of temporal and geographic genetic variation, viewed in the context of its population dynamics, have important implications for the management of invasive pests and the evolutionary biology of asexual species. PMID:21408073

Publication Voting Power (PVP): method of finding Evidence-Support

African Journals Online (AJOL)

Background: Extracting the best evidence that support a procedure is a difficult, time consuming task that needs expert statistical knowledge. A way to make weighting evidence more simple and straight for busy clinicians is needed. Methods: The publications about the procedure under question are lined in an ascending ...

Extensive genetic diversity, unique population structure and evidence of genetic exchange in the sexually transmitted parasite Trichomonas vaginalis.

Directory of Open Access Journals (Sweden)

Melissa D Conrad

Full Text Available Trichomonas vaginalis is the causative agent of human trichomoniasis, the most common non-viral sexually transmitted infection world-wide. Despite its prevalence, little is known about the genetic diversity and population structure of this haploid parasite due to the lack of appropriate tools. The development of a panel of microsatellite makers and SNPs from mining the parasite's genome sequence has paved the way to a global analysis of the genetic structure of the pathogen and association with clinical phenotypes.Here we utilize a panel of T. vaginalis-specific genetic markers to genotype 235 isolates from Mexico, Chile, India, Australia, Papua New Guinea, Italy, Africa and the United States, including 19 clinical isolates recently collected from 270 women attending New York City sexually transmitted disease clinics. Using population genetic analysis, we show that T. vaginalis is a genetically diverse parasite with a unique population structure consisting of two types present in equal proportions world-wide. Parasites belonging to the two types (type 1 and type 2 differ significantly in the rate at which they harbor the T. vaginalis virus, a dsRNA virus implicated in parasite pathogenesis, and in their sensitivity to the widely-used drug, metronidazole. We also uncover evidence of genetic exchange, indicating a sexual life-cycle of the parasite despite an absence of morphologically-distinct sexual stages.Our study represents the first robust and comprehensive evaluation of global T. vaginalis genetic diversity and population structure. Our identification of a unique two-type structure, and the clinically relevant phenotypes associated with them, provides a new dimension for understanding T. vaginalis pathogenesis. In addition, our demonstration of the possibility of genetic exchange in the parasite has important implications for genetic research and control of the disease.

Extensive genetic diversity, unique population structure and evidence of genetic exchange in the sexually transmitted parasite Trichomonas vaginalis.

Science.gov (United States)

Conrad, Melissa D; Gorman, Andrew W; Schillinger, Julia A; Fiori, Pier Luigi; Arroyo, Rossana; Malla, Nancy; Dubey, Mohan Lal; Gonzalez, Jorge; Blank, Susan; Secor, William E; Carlton, Jane M

2012-01-01

Trichomonas vaginalis is the causative agent of human trichomoniasis, the most common non-viral sexually transmitted infection world-wide. Despite its prevalence, little is known about the genetic diversity and population structure of this haploid parasite due to the lack of appropriate tools. The development of a panel of microsatellite makers and SNPs from mining the parasite's genome sequence has paved the way to a global analysis of the genetic structure of the pathogen and association with clinical phenotypes. Here we utilize a panel of T. vaginalis-specific genetic markers to genotype 235 isolates from Mexico, Chile, India, Australia, Papua New Guinea, Italy, Africa and the United States, including 19 clinical isolates recently collected from 270 women attending New York City sexually transmitted disease clinics. Using population genetic analysis, we show that T. vaginalis is a genetically diverse parasite with a unique population structure consisting of two types present in equal proportions world-wide. Parasites belonging to the two types (type 1 and type 2) differ significantly in the rate at which they harbor the T. vaginalis virus, a dsRNA virus implicated in parasite pathogenesis, and in their sensitivity to the widely-used drug, metronidazole. We also uncover evidence of genetic exchange, indicating a sexual life-cycle of the parasite despite an absence of morphologically-distinct sexual stages. Our study represents the first robust and comprehensive evaluation of global T. vaginalis genetic diversity and population structure. Our identification of a unique two-type structure, and the clinically relevant phenotypes associated with them, provides a new dimension for understanding T. vaginalis pathogenesis. In addition, our demonstration of the possibility of genetic exchange in the parasite has important implications for genetic research and control of the disease.

Staff views on supporting evidence based practice for children with ASD.

Science.gov (United States)

Trembath, David; Sulek, Rhylee; Paynter, Jessica; Simpson, Kate; Keen, Deb

2017-11-22

A variety of empirically supported interventions are available for children with autism spectrum disorder (ASD), but previous research suggests that their selection and use within an evidence-based practice (EBP) framework in clinical settings is challenging. To date, research has primarily focused on identifying individual, organisational, and contextual barriers to EBP rather than identifying collaborative solutions to these barriers through consultation with staff. The aim of our study was to explore staff views on supporting EBP in their work with children with ASD. We conducted five focus groups involving 29 professional (e.g., speech pathologists, teachers), paraprofessional (e.g., childcare workers), and managerial staff to explore their views. Audio recordings were transcribed verbatim and analysed using thematic analysis. Two central themes, comprising six categories, emerged to account for the participants' views. Initiative and Effort accounted for the range of creative strategies staff had developed to support their engagement in EBP. They also expressed the need for A Better Way involving organisational-wide support such as this engagement, including peer-to-peer mentoring. The findings suggest that an organisational-wide model to support engagement in EBP, with peer-to-peer mentoring at its foundation, may provide a desirable, ecologically valid, and acceptable model. Implications for Rehabilitation Clinicians and educators recognise the importance of evidence-based practice. Efforts to support evidence-based practice have focused mostly on access to research evidence. Clinicians and educators in this study were developing their own strategies based on intuition. They identified a need for organisation-wide approaches to supporting evidence-based practice. Peer-to-peer mentoring appears to be an acceptable and viable strategy.

Genetic evidence for monogamy in the dwarf seahorse, Hippocampus zosterae.

Science.gov (United States)

Rose, Emily; Small, Clayton M; Saucedo, Hector A; Harper, Cristin; Jones, Adam G

2014-01-01

Syngnathid fishes (pipefishes, seahorses, and seadragons) exhibit a wide array of mating systems ranging from monogamy with long-term pair bonds to more promiscuous mating systems, such as polyandry and polygynandry. Some seahorses, including the dwarf seahorse Hippocampus zosterae, have been found to be socially monogamous. Although several seahorse species have also been shown to be genetically monogamous, parentage analysis has not yet been applied to the dwarf seahorse. We developed 8 novel microsatellites for the dwarf seahorse to conduct genetic parentage analysis to confirm that this species is indeed monogamous. Using 4 selected loci and a total of 16 pregnant male seahorses, with 8 collected in Florida and 8 sampled in Texas, we genotyped all of the offspring within each male's brood to determine the maternal contributions to each brood. We found a maximum of 4 alleles per locus segregating within each pregnant male's brood, a pattern consistent with each brood having exactly 1 mother and 1 father. These results support previous laboratory-based behavioral studies and indicate that the dwarf seahorse, H. zosterae, is genetically monogamous. © The American Genetic Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Twelve evidence-based principles for implementing self-management support in primary care.

Science.gov (United States)

Battersby, Malcolm; Von Korff, Michael; Schaefer, Judith; Davis, Connie; Ludman, Evette; Greene, Sarah M; Parkerton, Melissa; Wagner, Edward H

2010-12-01

Recommendations to improve self-management support and health outcomes for people with chronic conditions in primary care settings are provided on the basis of expert opinion supported by evidence for practices and processes. Practices and processes that could improve self-management support in primary care were identified through a nominal group process. In a targeted search strategy, reviews and meta-analyses were then identifed using terms from a wide range of chronic conditions and behavioral risk factors in combination with Self-Care, Self-Management, and Primary Care. On the basis of these reviews, evidence-based principles for self-management support were developed. The evidence is organized within the framework of the Chronic Care Model. Evidence-based principles in 12 areas were associated with improved patient self-management and/or health outcomes: (1) brief targeted assessment, (2) evidence-based information to guide shared decision-making, (3) use of a nonjudgmental approach, (4) collaborative priority and goal setting, (5) collaborative problem solving, (6) self-management support by diverse providers, (7) self-management interventions delivered by diverse formats, (8) patient self-efficacy, (9) active followup, (10) guideline-based case management for selected patients, (11) linkages to evidence-based community programs, and (12) multifaceted interventions. A framework is provided for implementing these principles in three phases of the primary care visit: enhanced previsit assessment, a focused clinical encounter, and expanded postvisit options. There is a growing evidence base for how self-management support for chronic conditions can be integrated into routine health care.

Overlapping genetic and environmental influences among men's alcohol consumption and problems, romantic quality and social support.

Science.gov (United States)

Salvatore, J E; Prom-Wormley, E; Prescott, C A; Kendler, K S

2015-08-01

Alcohol consumption and problems are associated with interpersonal difficulties. We used a twin design to assess in men the degree to which genetic or environmental influences contributed to the covariance between alcohol consumption and problems, romantic quality and social support. The sample included adult male-male twin pairs (697 monozygotic and 487 dizygotic) for whom there were interview-based data on: alcohol consumption (average monthly alcohol consumption in the past year); alcohol problems (lifetime alcohol dependence symptoms); romantic conflict and warmth; friend problems and support; and relative problems and support. Key findings were that genetic and unique environmental factors contributed to the covariance between alcohol consumption and romantic conflict; genetic factors contributed to the covariance between alcohol problems and romantic conflict; and common and unique environmental factors contributed to the covariance between alcohol problems and friend problems. Recognizing and addressing the overlapping genetic and environmental influences that alcohol consumption and problems share with romantic quality and other indicators of social support may have implications for substance use prevention and intervention efforts.

[Genetics and epigenetics in autism].

Science.gov (United States)

Nakayama, Atsuo; Masaki, Shiego; Aoki, Eiko

2006-11-01

Autism is a behaviorally defined syndrome characterized by impaired social interaction and communication, and restricted, stereotyped interests and behaviors. Several lines of evidence support the contention that genetic factors are a large component to autism etiology. However, in spite of vigorous genetic studies, no single causative or susceptibility gene common in autism has been identified. Thus multiple susceptibility genes in interaction are considered to account for the disorder. Furthermore, environmental risk factors can accelerate the autism development of. Recent advances in understanding the epigenetic regulation may shed light on the interaction among multiple genetic factors and environmental factors.

Scientific Evidence on the Supportive Cancer Care with Chinese Medicine

Directory of Open Access Journals (Sweden)

William CS CHO

2010-03-01

Full Text Available Complementary and alternative medicine has been increasingly utilized by cancer patients in developed countries. Among the various forms of complementary and alternative medicine, Traditional Chinese Medicine is one of the few that has a well constructed theoretical framework and established treatment approaches for diseases including cancer. Recent research has revealed growing evidence suggesting that Traditional Chinese Medicine is effective in the supportive care of cancer patients during and after major conventional cancer treatments. This paper succinctly summarizes some published clinical evidence and meta-analyses which support the usage of various Traditional Chinese Medicine treatment strategies including Chinese herbal medicine, acupuncture and Qigong in supportive cancer care.

Genetic and Functional Evidence Supports LPAR1 as a Susceptibility Gene for Hypertension.

Science.gov (United States)

Xu, Ke; Ma, Lu; Li, Yang; Wang, Fang; Zheng, Gu-Yan; Sun, Zhijun; Jiang, Feng; Chen, Yundai; Liu, Huirong; Dang, Aimin; Chen, Xi; Chun, Jerold; Tian, Xiao-Li

2015-09-01

Essential hypertension is a complex disease affected by genetic and environmental factors and serves as a major risk factor for cardiovascular diseases. Serum lysophosphatidic acid correlates with an elevated blood pressure in rats, and lysophosphatidic acid interacts with 6 subtypes of receptors. In this study, we assessed the genetic association of lysophosphatidic acid receptors with essential hypertension by genotyping 28 single-nucleotide polymorphisms from genes encoding for lysophosphatidic acid receptors, LPAR1, LPAR2, LPAR3, LPAR4, LPAR5, and LPAR6 and their flanking sequences, in 3 Han Chinese cohorts consisting of 2630 patients and 3171 controls in total. We identified a single-nucleotide polymorphism, rs531003 in the 3'-flanking genomic region of LPAR1, associated with hypertension (the Bonferroni corrected P=1.09×10(-5), odds ratio [95% confidence interval]=1.23 [1.13-1.33]). The risk allele C of rs531003 is associated with the increased expression of LPAR1 and the susceptibility of hypertension, particularly in those with a shortage of sleep (P=4.73×10(-5), odds ratio [95% confidence interval]=1.75 [1.34-2.28]). We further demonstrated that blood pressure elevation caused by sleep deprivation and phenylephrine-induced vasoconstriction was both diminished in LPAR1-deficient mice. Together, we show that LPAR1 is a novel susceptibility gene for human essential hypertension and that stress, such as shortage of sleep, increases the susceptibility of patients with risk allele to essential hypertension. © 2015 American Heart Association, Inc.

Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms

Directory of Open Access Journals (Sweden)

Adrian A. Lahola-Chomiak

2018-01-01

Full Text Available We explore the ideas and advances surrounding the genetic basis of pigment dispersion syndrome (PDS and pigmentary glaucoma (PG. As PG is the leading cause of nontraumatic blindness in young adults and current tailored interventions have proven ineffective, a better understanding of the underlying causes of PDS, PG, and their relationship is essential. Despite PDS being a subclinical disease, a large proportion of patients progress to PG with associated vision loss. Decades of research have supported a genetic component both for PDS and conversion to PG. We review the body of evidence supporting a genetic basis in humans and animal models and reevaluate classical mechanisms of PDS/PG considering this new evidence.

Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms.

Science.gov (United States)

Lahola-Chomiak, Adrian A; Walter, Michael A

2018-01-01

We explore the ideas and advances surrounding the genetic basis of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). As PG is the leading cause of nontraumatic blindness in young adults and current tailored interventions have proven ineffective, a better understanding of the underlying causes of PDS, PG, and their relationship is essential. Despite PDS being a subclinical disease, a large proportion of patients progress to PG with associated vision loss. Decades of research have supported a genetic component both for PDS and conversion to PG. We review the body of evidence supporting a genetic basis in humans and animal models and reevaluate classical mechanisms of PDS/PG considering this new evidence.

Proposal of a Holistic Model to Support Local-Level Evidence-Based Practice

Directory of Open Access Journals (Sweden)

Said Shahtahmasebi

2010-01-01

Full Text Available In response to a central drive for evidence-based practice, there have been many research support schemes, setups, and other practices concentrating on facilitating access to external research, such as the Centre for Evidence Based Healthcare Aotearoa, the Cochrane Collaboration, and the York Centre for Reviews and Dissemination. Very little attention has been paid to supporting internal research in terms of local evidence and internal research capabilities. The whole evidence-based practice movement has alienated internal decision makers and, thus, very little progress has been made in the context of evidence informing local policy formation. Health and social policies are made centrally based on dubious claims and often evidence is sought after implementation. For example, on record, most health care practitioners appear to agree with the causal link between depression and mental illness (sometimes qualified with other social factors with suicide; off the record, even some psychiatrists doubt that such a link is applicable to the population as a whole. Therefore, be it through misplaced loyalty or a lack of support for internal researchers/decision makers, local evidence informing local decision making may have been ignored in favour of external evidence. In this paper, we present a practical holistic model to support local evidence-based decision making. This approach is more relevant in light of a new approach to primary health care of “local knowledge” complementing external evidence. One possible outcome would be to network with other regional programmes around the world to share information and identify “best” practices, such as the “Stop Youth Suicide Campaign”(www.stopyouthsuicide.com.

Supporting Implementation of Evidence-Based Practices through Practice-Based Coaching

Science.gov (United States)

Snyder, Patricia A.; Hemmeter, Mary Louise; Fox, Lise

2015-01-01

In active implementation science frameworks, coaching has been described as an important competency "driver" to ensure evidence-based practices are implemented as intended. Empirical evidence also has identified coaching as a promising job-embedded professional development strategy to support implementation of quality teaching practices.…

When Is Statistical Evidence Superior to Anecdotal Evidence in Supporting Probability Claims? The Role of Argument Type

Science.gov (United States)

Hoeken, Hans; Hustinx, Lettica

2009-01-01

Under certain conditions, statistical evidence is more persuasive than anecdotal evidence in supporting a claim about the probability that a certain event will occur. In three experiments, it is shown that the type of argument is an important condition in this respect. If the evidence is part of an argument by generalization, statistical evidence…

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

DEFF Research Database (Denmark)

Mehta, Divya; Tropf, Felix C; Gratten, Jacob

2016-01-01

IMPORTANCE: A recently published study of national data by McGrath et al in 2014 showed increased risk of schizophrenia (SCZ) in offspring associated with both early and delayed parental age, consistent with a U-shaped relationship. However, it remains unclear if the risk to the child is due......), reflecting the published relationship between maternal age and SCZ risk in offspring by McGrath et al in 2014. CONCLUSIONS AND RELEVANCE: This study provides evidence for a significant overlap between genetic factors associated with risk of SCZ and genetic factors associated with AFB. It has been reported...

Genetics of Human Sexual Behavior: Where We Are, Where We Are Going.

Science.gov (United States)

Jannini, Emmanuele A; Burri, Andrea; Jern, Patrick; Novelli, Giuseppe

2015-04-01

One of the never-ending debates in the developing field of sexual medicine is the extent to which genetics and experiences (i.e., "nature and nurture") contribute to sexuality. The debate continues despite the fact that these two sides have different abilities to create a scientific environment to support their cause. Contemporary genetics has produced plenty of recent evidence, however, not always confirmed or sufficiently robust. On the other hand, the more traditional social theorists, frequently without direct evidence confirming their positions, criticize, sometimes with good arguments, the methods and results of the other side. The aim of this article is to critically evaluate existent evidence that used genetic approaches to understand human sexuality. An expert in sexual medicine (E.A.J.), an expert in medical genetics (G.N.), and two experts in genetic epidemiology and quantitative genetics, with particular scientific experience in female sexual dysfunction (A.B.) and in premature ejaculation (P.J.), contributed to this review. Expert opinion supported by critical review of the currently available literature. The existing literature on human sexuality provides evidence that many sexuality-related behaviors previously considered to be the result of cultural influences (such as mating strategies, attractiveness and sex appeal, propensity to fidelity or infidelity, and sexual orientation) or dysfunctions (such as premature ejaculation or female sexual dysfunction) seem to have a genetic component. Current evidence from genetic epidemiologic studies underlines the existence of biological and congenital factors regulating male and female sexuality. However, these relatively recent findings ask for replication in methodologically more elaborated studies. Clearly, increased research efforts are needed to further improve understanding the genetics of human sexuality. Jannini EA, Burri A, Jern P, and Novelli G. Genetics of human sexual behavior: Where we are, where

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

While there was considerable variation in the relative magnitude of intraspecific and interspecific competitive effects over generations, among both populations and environments, there was no clear evidence supporting the genetic feedback hypothesis. Intraspecific and interspecific competitive effects on population growth ...

Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records

Directory of Open Access Journals (Sweden)

Darcy Diana C

2011-11-01

Full Text Available Abstract Background Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. Discussion As health care systems increasingly implement electronic medical record systems (EMRs they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. Summary This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records.

Science.gov (United States)

Darcy, Diana C; Lewis, Eleanor T; Ormond, Kelly E; Clark, David J; Trafton, Jodie A

2011-11-02

Genetic testing is increasingly used as a tool throughout the health care system. In 2011 the number of clinically available genetic tests is approaching 2,000, and wide variation exists between these tests in their sensitivity, specificity, and clinical implications, as well as the potential for discrimination based on the results. As health care systems increasingly implement electronic medical record systems (EMRs) they must carefully consider how to use information from this wide spectrum of genetic tests, with whom to share information, and how to provide decision support for clinicians to properly interpret the information. Although some characteristics of genetic tests overlap with other medical test results, there are reasons to make genetic test results widely available to health care providers and counterbalancing reasons to restrict access to these test results to honor patient preferences, and avoid distracting or confusing clinicians with irrelevant but complex information. Electronic medical records can facilitate and provide reasonable restrictions on access to genetic test results and deliver education and decision support tools to guide appropriate interpretation and use. This paper will serve to review some of the key characteristics of genetic tests as they relate to design of access control and decision support of genetic test information in the EMR, emphasizing the clear need for health information technology (HIT) to be part of optimal implementation of genetic medicine, and the importance of understanding key characteristics of genetic tests when designing HIT applications.

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

Science.gov (United States)

Shaw, Liam; Ribeiro, Andre L R; Levine, Adam P; Pontikos, Nikolas; Balloux, Francois; Segal, Anthony W; Roberts, Adam P; Smith, Andrew M

2017-09-12

The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa. This effect was also seen when including adults who had grown up in the same household but moved out prior to the time of sampling, suggesting that the establishment of the salivary microbiome earlier in life may affect its long-term composition. We found weak associations between host genetic relatedness and microbiome dissimilarity when using family pedigrees as proxies for genetic similarity. However, this association disappeared when using more-accurate measures of kinship based on genome-wide genetic markers, indicating that the environment rather than host genetics is the dominant factor affecting the composition of the salivary microbiome in closely related individuals. Our results support the concept that there is a consistent core microbiome conserved across global scales but that small-scale effects due to a shared living environment significantly affect microbial community composition. IMPORTANCE Previous research shows that the salivary microbiomes of relatives are more similar than those of nonrelatives, but it remains difficult to distinguish the effects of relatedness and shared household environment. Furthermore, pedigree measures may not accurately measure host genetic similarity. In this study, we include genetic relatedness based on genome-wide single nucleotide polymorphisms (SNPs) (rather than

Nature, nurture, and capital punishment: How evidence of a genetic-environment interaction, future dangerousness, and deliberation affect sentencing decisions.

Science.gov (United States)

Gordon, Natalie; Greene, Edie

2018-01-01

Research has shown that the low-activity MAOA genotype in conjunction with a history of childhood maltreatment increases the likelihood of violent behaviors. This genetic-environment (G × E) interaction has been introduced as mitigation during the sentencing phase of capital trials, yet there is scant data on its effectiveness. This study addressed that issue. In a factorial design that varied mitigating evidence offered by the defense [environmental (i.e., childhood maltreatment), genetic, G × E, or none] and the likelihood of the defendant's future dangerousness (low or high), 600 mock jurors read sentencing phase evidence in a capital murder trial, rendered individual verdicts, and half deliberated as members of a jury to decide a sentence of death or life imprisonment. The G × E evidence had little mitigating effect on sentencing preferences: participants who received the G × E evidence were no less likely to sentence the defendant to death than those who received evidence of childhood maltreatment or a control group that received neither genetic nor maltreatment evidence. Participants with evidence of a G × E interaction were more likely to sentence the defendant to death when there was a high risk of future dangerousness than when there was a low risk. Sentencing preferences were more lenient after deliberation than before. We discuss limitations and future directions. Copyright © 2017 John Wiley & Sons, Ltd.

Evidence-informed health policy 2 - survey of organizations that support the use of research evidence.

Science.gov (United States)

Lavis, John N; Paulsen, Elizabeth J; Oxman, Andrew D; Moynihan, Ray

2008-12-17

Previous surveys of organizations that support the development of evidence-informed health policies have focused on organizations that produce clinical practice guidelines (CPGs) or undertake health technology assessments (HTAs). Only rarely have surveys focused at least in part on units that directly support the use of research evidence in developing health policy on an international, national, and state or provincial level (i.e., government support units, or GSUs) that are in some way successful or innovative or that support the use of research evidence in low- and middle-income countries (LMICs). We drew on many people and organizations around the world, including our project reference group, to generate a list of organizations to survey. We modified a questionnaire that had been developed originally by the Appraisal of Guidelines, Research and Evaluation in Europe (AGREE) collaboration and adapted one version of the questionnaire for organizations producing CPGs and HTAs, and another for GSUs. We sent the questionnaire by email to 176 organizations and followed up periodically with non-responders by email and telephone. We received completed questionnaires from 152 (86%) organizations. More than one-half of the organizations (and particularly HTA agencies) reported that examples from other countries were helpful in establishing their organization. A higher proportion of GSUs than CPG- or HTA-producing organizations involved target users in the selection of topics or the services undertaken. Most organizations have few (five or fewer) full-time equivalent (FTE) staff. More than four-fifths of organizations reported providing panels with or using systematic reviews. GSUs tended to use a wide variety of explicit valuation processes for the research evidence, but none with the frequency that organizations producing CPGs, HTAs, or both prioritized evidence by its quality. Between one-half and two-thirds of organizations do not collect data systematically about

Are advertisements in dental journals supported by an appropriate evidence-base?

Science.gov (United States)

Chestnutt, Ivor G; Hardy, Robert

2013-09-01

Dental professionals are constantly exposed to advertisements in the dental literature. These promote products, either for use in the operatory or to recommend to patients. In an era of evidence-based practice, what references are provided to support claims made by the advertisers? This study aimed to determine if advertisements in four major dental journals, whose target audience is general dental practitioners, were supported by an appropriate evidence-base, readily accessible to readers. The 2010 printed volumes of the Australian Dental Journal, British Dental Journal, Dental Update and the Journal of the American Dental Association were hand searched to identify advertisements which made a claim of clinical benefit or superiority to competing products. Advertisements were categorized according to type of product being promoted and the availability, nature and number of any supporting references was recorded. Repeated advertisements were analyzed only once. A total of 390 advertisements were identified and 369 made a claim of benefit or superiority. When the 222 duplicates of the same advertisement were removed, 147 unique advertisements remained. Of these: 54 (37%) were advertisements related to dental devices for in-surgery use; 44 (30%) for dental materials, and 27 (18%) for dentifrices/medicaments. 113 (76.9%) advertisements offered no evidential support for claims made. Of the 34 advertisements that provided evidential support, only 20 provided a complete reference that could readily be sourced by an interested reader: 15 articles in refereed journals; 5 data on file; 3 in-house studies and combinations thereof. Four references were not accessible due to incomplete referencing. Two advertisements provided evidence that was not relevant to the product being advertised. The majority of advertisements in the dental literature do not provide an adequate evidence-base, readily available to readers, to support the claims being made. If evidence-based practice is

No evidence for a genetic blueprint: The case of the "complex" mammalian photoreceptor

Directory of Open Access Journals (Sweden)

G Kumaramanickavel

2015-01-01

Full Text Available Despite the intensity of the search for genes causing inherited retinal degenerations over the past 3 decades, of the approximately 200 disease genes identified to date, all appear to be ordinary housekeeping genes specifying proteins playing basic structural and functional roles in the mature photoreceptor cells. No genes or genetic elements have been identified which can be construed as having a specific morphogenic role, directing the development of the cytoarchitecture of any particular retinal cell. The evidence suggests that the cytoarchitecture of the retinal photoreceptors, although enormously complex, arises from the self-organization of the cells constituents without any regulation or direction from an external genetic blueprint.

Genetic structure of populations of whale sharks among ocean basins and evidence for their historic rise and recent decline

KAUST Repository

Vignaud, Thomas M.; Maynard, Jeffrey Allen; Leblois, Raphaë l; Meekan, Mark G.; Vá zquez-Juá rez, Ricardo; Ramí rez-Mací as, Dení ; Pierce, Simon J.; Rowat, David; Berumen, Michael L.; Beeravolu, Champak R.; Baksay, Sandra; Planes, Serge

2014-01-01

This study presents genetic evidence that whale sharks, Rhincodon typus, are comprised of at least two populations that rarely mix and is the first to document a population expansion. Relatively high genetic structure is found when comparing sharks

Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

Science.gov (United States)

Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

2015-12-01

Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination. (c) 2015 APA, all rights reserved).

Organizational Supports for Research Evidence Use in State Public Health Agencies: A Latent Class Analysis.

Science.gov (United States)

Hu, Hengrui; Allen, Peg; Yan, Yan; Reis, Rodrigo S; Jacob, Rebekah R; Brownson, Ross C

2018-05-30

Use of research evidence in public health decision making can be affected by organizational supports. Study objectives are to identify patterns of organizational supports and explore associations with research evidence use for job tasks among public health practitioners. In this longitudinal study, we used latent class analysis to identify organizational support patterns, followed by mixed logistic regression analysis to quantify associations with research evidence use. The setting included 12 state public health department chronic disease prevention units and their external partnering organizations involved in chronic disease prevention. Chronic disease prevention staff from 12 US state public health departments and partnering organizations completed self-report surveys at 2 time points, in 2014 and 2016 (N = 872). Latent class analysis was employed to identify subgroups of survey participants with distinct patterns of perceived organizational supports. Two classify-analyze approaches (maximum probability assignment and multiple pseudo-class draws) were used in 2017 to investigate the association between latent class membership and research evidence use. The optimal model identified 4 latent classes, labeled as "unsupportive workplace," "low agency leadership support," "high agency leadership support," and "supportive workplace." With maximum probability assignment, participants in "high agency leadership support" (odds ratio = 2.08; 95% CI, 1.35-3.23) and "supportive workplace" (odds ratio = 1.74; 95% CI, 1.10-2.74) were more likely to use research evidence in job tasks than "unsupportive workplace." The multiple pseudo-class draws produced comparable results with odds ratio = 2.09 (95% CI, 1.31-3.30) for "high agency leadership support" and odds ratio = 1.74 (95% CI, 1.07-2.82) for "supportive workplace." Findings suggest that leadership support may be a crucial element of organizational supports to encourage research evidence use. Organizational supports such

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.

Science.gov (United States)

Rocha, Heather Mae; Savatt, Juliann M; Riggs, Erin Rooney; Wagner, Jennifer K; Faucett, W Andrew; Martin, Christa Lese

2018-04-01

Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www.simonsvipconnect.org ) and GenomeConnect ( www.genomeconnect.org ). Over a three-month period, invitations were sent to 2524 individuals and 103 responses (4%) were received and analyzed. Responses indicate that Facebook is the most popular resource accessed within this sample population (99%). Participants used social media to look for information about their diagnosis or test results (83%), read posts from rare disease groups or organizations (73%), participate in conversations about their diagnosis (67%), and connect with others to find support (58%). Focusing on privacy issues in social media, respondents indicate that membership and access impact the level of comfort in sharing personal or medical information. Nearly 60% of respondents felt uncomfortable sharing photos or medical information within a public Facebook group, whereas only 12% of respondents felt uncomfortable sharing in private group targeted to families alone. Using this preliminary data concerning social media use and privacy, we developed points for genetic counselors to incorporate when discussing available support resources for patients with a new, or rare, genetic diagnosis or genetic test result. Genetic counselors are trained to provide anticipatory guidance to families adapting to new genetic information, and are well-equipped to help patients consider their preferences about using social media as a source of information and support.

Are claims made in orthodontic journal advertisements evidence-supported?

NARCIS (Netherlands)

Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

Objective: To examine the supporting evidence of advertisements published in six leading orthodontic journals. Materials and Methods: The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European

Genetic variability, local selection and demographic history: genomic evidence of evolving towards allopatric speciation in Asian seabass.

Science.gov (United States)

Wang, Le; Wan, Zi Yi; Lim, Huan Sein; Yue, Gen Hua

2016-08-01

Genomewide analysis of genetic divergence is critically important in understanding the genetic processes of allopatric speciation. We sequenced RAD tags of 131 Asian seabass individuals of six populations from South-East Asia and Australia/Papua New Guinea. Using 32 433 SNPs, we examined the genetic diversity and patterns of population differentiation across all the populations. We found significant evidence of genetic heterogeneity between South-East Asian and Australian/Papua New Guinean populations. The Australian/Papua New Guinean populations showed a rather lower level of genetic diversity. FST and principal components analysis revealed striking divergence between South-East Asian and Australian/Papua New Guinean populations. Interestingly, no evidence of contemporary gene flow was observed. The demographic history was further tested based on the folded joint site frequency spectrum. The scenario of ancient migration with historical population size changes was suggested to be the best fit model to explain the genetic divergence of Asian seabass between South-East Asia and Australia/Papua New Guinea. This scenario also revealed that Australian/Papua New Guinean populations were founded by ancestors from South-East Asia during mid-Pleistocene and were completely isolated from the ancestral population after the last glacial retreat. We also detected footprints of local selection, which might be related to differential ecological adaptation. The ancient gene flow was examined and deemed likely insufficient to counteract the genetic differentiation caused by genetic drift. The observed genomic pattern of divergence conflicted with the 'genomic islands' scenario. Altogether, Asian seabass have likely been evolving towards allopatric speciation since the split from the ancestral population during mid-Pleistocene. © 2016 John Wiley & Sons Ltd.

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

Science.gov (United States)

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.

Three Molecular Markers Show No Evidence of Population Genetic Structure in the Gouldian Finch (Erythrura gouldiae.

Directory of Open Access Journals (Sweden)

Peri E Bolton

Full Text Available Assessment of genetic diversity and connectivity between regions can inform conservation managers about risk of inbreeding, potential for adaptation and where population boundaries lie. The Gouldian finch (Erythrura gouldiae is a threatened species in northern Australia, occupying the savannah woodlands of the biogeographically complex monsoon tropics. We present the most comprehensive population genetic analysis of diversity and structure the Gouldian finch using 16 microsatellite markers, mitochondrial control region and 3,389 SNPs from genotyping-by-sequencing. Mitochondrial diversity is compared across three related, co-distributed finches with different conservation threat-statuses. There was no evidence of genetic differentiation across the western part of the range in any of the molecular markers, and haplotype diversity but not richness was lower than a common co-distributed species. Individuals within the panmictic population in the west may be highly dispersive within this wide area, and we urge caution when interpreting anecdotal observations of changes to the distribution and/or flock sizes of Gouldian finch populations as evidence of overall changes to the population size of this species.

Genetic influences on phase synchrony of brain oscillations supporting response inhibition.

Science.gov (United States)

Müller, Viktor; Anokhin, Andrey P; Lindenberger, Ulman

2017-05-01

Phase synchronization of neuronal oscillations is a fundamental mechanism underlying cognitive processing and behavior, including context-dependent response production and inhibition. Abnormalities in neural synchrony can lead to abnormal information processing and contribute to cognitive and behavioral deficits in neuropsychiatric disorders. However, little is known about genetic and environmental contributions to individual differences in cortical oscillatory dynamics underlying response inhibition. This study examined heritability of event-related phase synchronization of brain oscillations in 302 young female twins including 94 MZ and 57 DZ pairs performing a cued Go/No-Go version of the Continuous Performance Test (CPT). We used the Phase Locking Index (PLI) to assess inter-trial phase clustering (synchrony) in several frequency bands in two time intervals after stimulus onset (0-300 and 301-600ms). Response inhibition (i.e., successful response suppression in No-Go trials) was characterized by a transient increase in phase synchronization of delta- and theta-band oscillations in the fronto-central midline region. Genetic analysis showed significant heritability of the phase locking measures related to response inhibition, with 30 to 49% of inter-individual variability being accounted for by genetic factors. This is the first study providing evidence for heritability of task-related neural synchrony. The present results suggest that PLI can serve as an indicator of genetically transmitted individual differences in neural substrates of response inhibition. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetic evidence linking lung cancer and COPD: a new perspective

Directory of Open Access Journals (Sweden)

Crapo JD

2011-07-01

Full Text Available Robert P Young1,4, Raewyn J Hopkins1, Gregory D Gamble1, Carol Etzel2, Randa El-Zein2, James D Crapo31Department of Medicine and School of Biological Sciences, University of Auckland, Auckland, New Zealand; 2Department of Epidemiology, UT MD Anderson Cancer Center, Houston, TX, USA; 3National Jewish Health, Denver, CO, USA; 4Synergenz Biosciences Ltd, Auckland, New ZealandAbstract: Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD and lung cancer. However, genetic factors may explain why 10%–30% of smokers develop these complications. This perspective reviews the evidence suggesting that COPD is closely linked to susceptibility to lung cancer and outlines the potential relevance of this observation. Epidemiological studies show that COPD is the single most important risk factor for lung cancer among smokers and predates lung cancer in up to 80% of cases. Genome-wide association studies of lung cancer, lung function, and COPD have identified a number of overlapping “susceptibility” loci. With stringent phenotyping, it has recently been shown that several of these overlapping loci are independently associated with both COPD and lung cancer. These loci implicate genes underlying pulmonary inflammation and apoptotic processes mediated by the bronchial epithelium, and link COPD with lung cancer at a molecular genetic level. It is currently possible to derive risk models for lung cancer that incorporate lung cancer-specific genetic variants, recently identified “COPD-related” genetic variants, and clinical variables. Early studies suggest that single nucleotide polymorphism-based risk stratification of smokers might help better target novel prevention and early diagnostic strategies in lung cancer.Keywords: lung cancer, chronic obstructive pulmonary disease, association study, single nucleotide polymorphism, risk model

Evidence-informed health policy 2 – Survey of organizations that support the use of research evidence

Directory of Open Access Journals (Sweden)

Oxman Andrew D

2008-12-01

Full Text Available Abstract Background Previous surveys of organizations that support the development of evidence-informed health policies have focused on organizations that produce clinical practice guidelines (CPGs or undertake health technology assessments (HTAs. Only rarely have surveys focused at least in part on units that directly support the use of research evidence in developing health policy on an international, national, and state or provincial level (i.e., government support units, or GSUs that are in some way successful or innovative or that support the use of research evidence in low- and middle-income countries (LMICs. Methods We drew on many people and organizations around the world, including our project reference group, to generate a list of organizations to survey. We modified a questionnaire that had been developed originally by the Appraisal of Guidelines, Research and Evaluation in Europe (AGREE collaboration and adapted one version of the questionnaire for organizations producing CPGs and HTAs, and another for GSUs. We sent the questionnaire by email to 176 organizations and followed up periodically with non-responders by email and telephone. Results We received completed questionnaires from 152 (86% organizations. More than one-half of the organizations (and particularly HTA agencies reported that examples from other countries were helpful in establishing their organization. A higher proportion of GSUs than CPG- or HTA-producing organizations involved target users in the selection of topics or the services undertaken. Most organizations have few (five or fewer full-time equivalent (FTE staff. More than four-fifths of organizations reported providing panels with or using systematic reviews. GSUs tended to use a wide variety of explicit valuation processes for the research evidence, but none with the frequency that organizations producing CPGs, HTAs, or both prioritized evidence by its quality. Between one-half and two-thirds of organizations

What evidence and support do state-level public health practitioners need to address obesity prevention.

Science.gov (United States)

Leeman, Jennifer; Teal, Randall; Jernigan, Jan; Reed, Jenica Huddleston; Farris, Rosanne; Ammerman, Alice

2014-01-01

Obesity has reached epidemic proportions. Public health practitioners are distinctly positioned to promote the environmental changes essential to addressing obesity. The Centers for Disease Control and Prevention (CDC) and other entities provide evidence and technical assistance to support this work, yet little is known about how practitioners use evidence and support as they intervene to prevent obesity. The study's purpose was to describe how practitioners and CDC project officers characterized the obesity prevention task, where practitioners accessed support and evidence, and what approaches to support and evidence they found most useful. APPROACH OR DESIGN: Mixed-methods, cross-sectional interviews, and survey. State-level public health obesity prevention programs. Public health practitioners and CDC project officers. We conducted 10 in-depth interviews with public health practitioners (n = 7) and project officers (n = 3) followed by an online survey completed by 62 practitioners (50% response rate). We applied content analysis to interview data and descriptive statistics to survey data. Practitioners characterized obesity prevention as uncertain and complex, involving interdependence among actors, multiple levels of activity, an excess of information, and a paucity of evidence. Survey findings provide further detail on the types of evidence and support practitioners used and valued. We recommend approaches to tailoring evidence and support to the needs of practitioners working on obesity prevention and other complex health problems.

The genetics of axonal transport and axonal transport disorders.

Directory of Open Access Journals (Sweden)

Jason E Duncan

2006-09-01

Full Text Available Neurons are specialized cells with a complex architecture that includes elaborate dendritic branches and a long, narrow axon that extends from the cell body to the synaptic terminal. The organized transport of essential biological materials throughout the neuron is required to support its growth, function, and viability. In this review, we focus on insights that have emerged from the genetic analysis of long-distance axonal transport between the cell body and the synaptic terminal. We also discuss recent genetic evidence that supports the hypothesis that disruptions in axonal transport may cause or dramatically contribute to neurodegenerative diseases.

ADDIS: A decision support system for evidence-based medicine

NARCIS (Netherlands)

G. van Valkenhoef (Gert); T. Tervonen (Tommi); T. Zwinkels (Tijs); B. de Brock (Bert); H.L. Hillege (Hans)

2013-01-01

textabstractClinical trials are the main source of information for the efficacy and safety evaluation of medical treatments. Although they are of pivotal importance in evidence-based medicine, there is a lack of usable information systems providing data-analysis and decision support capabilities for

Advances in genetics and immunology: the importance of basic research to prevention of occupational diseases

International Nuclear Information System (INIS)

Omenn, G.S.

1984-01-01

Differences among workers in susceptibility to workplace exposures to environmental agents such as metals, ultraviolet radiation, and x-radiation are discussed. The distinction is made between the need for (1) monitoring for effects on the genetic material (genetic toxicology) and (2) screening for predisposing inherited traits (eco-genetics). Genetically-determined differences in susceptibility are discussed in relation to mechanisms of metabolism and of target sites. While there is not enough evidence to support routine genetic screening at this time there is common agreement that several promising areas for research on potential genetic predispositions warrant careful study. There is also reassuring evidence that productive relationships for research can be established among unions, management, and universities. 56 references, 3 figures, 7 tables

Preliminary evidence for genetic overlap between body mass index and striatal reward response.

Science.gov (United States)

Lancaster, T M; Ihssen, I; Brindley, L M; Linden, D E

2018-01-10

The reward-processing network is implicated in the aetiology of obesity. Several lines of evidence suggest obesity-linked genetic risk loci (such as DRD2 and FTO) may influence individual variation in body mass index (BMI) through neuropsychological processes reflected in alterations in activation of the striatum during reward processing. However, no study has tested the broader hypotheses that (a) the relationship between BMI and reward-related brain activation (measured through the blood oxygenation-dependent (BOLD) signal) may be observed in a large population study and (b) the overall genetic architecture of these phenotypes overlap, an assumption critical for the progression of imaging genetic studies in obesity research. Using data from the Human Connectome Project (N = 1055 healthy, young individuals: average BMI = 26.4), we first establish a phenotypic relationship between BMI and ventral striatal (VS) BOLD during the processing of rewarding (monetary) stimuli (β = 0.44, P = 0.013), accounting for potential confounds. BMI and VS BOLD were both significantly influenced by additive genetic factors (H2r = 0.57; 0.12, respectively). Further decomposition of this variance suggested that the relationship was driven by shared genetic (ρ g  = 0.47, P = 0.011), but not environmental (ρ E  = -0.07, P = 0.29) factors. To validate the assumption of genetic pleiotropy between BMI and VS BOLD, we further show that polygenic risk for higher BMI is also associated with increased VS BOLD response to appetitive stimuli (calorically high food images), in an independent sample (N = 81; P FWE-ROI  < 0.005). Together, these observations suggest that the genetic factors link risk to obesity to alterations within key nodes of the brain's reward circuity. These observations provide a basis for future work exploring the mechanistic role of genetic loci that confer risk for obesity using the imaging genetics approach.

A Decision Support System Based on Genetic Algorithm (Case Study: Scheduling in Supply Chain

Directory of Open Access Journals (Sweden)

Mohammad Ali Beheheshtinia

2016-10-01

Full Text Available Nowadays, the application of effective and efficient decisions on complex issues require the use of decision support systems. This Paper provided a decision support system based on the genetic algorithm for production and transportation scheduling problem in a supply chain. It is assumed that there are number of orders that should be produced by suppliers and should be transported to the plant by a transportation fleet. The aim is to assign orders to the suppliers, specify the order of their production, allocate processed orders to the vehicles for transport and to arrange them in a way that minimizes the total delivery time. It has been shown that the complexity of the problem was related to Np-hard and there was no possibility of using accurate methods to solve the problem in a reasonable time. So, the genetic algorithm was used in this paper to solve the problem. By using this decision support system, a new approach to supply chain management was proposed. The analysis of the approach proposed in this study compared to the conventional approaches by the decision support system indicated the preference of our proposed approach

Indirect evidence for genetic differentiation in vulnerability to embolism in Pinus halepensis

Directory of Open Access Journals (Sweden)

Rakefet eDavid-Schwartz

2016-06-01

Full Text Available Climate change is increasing mean temperatures and in the eastern Mediterranean is expected to decrease annual precipitation. The resulting increase in aridity may be too rapid for adaptation of tree species unless their gene pool already possesses variation in drought resistance. Vulnerability to embolism, estimated by the pressure inducing 50% loss of xylem hydraulic conductivity (P50, is strongly associated with drought stress resistance in trees. Yet, previous studies on various tree species reported low intraspecific genetic variation for this trait, and therefore limited adaptive capacities to increasing aridity. Here we quantified differences in hydraulic efficiency (xylem hydraulic conductance and safety (resistance to embolism in four contrasting provenances of Pinus halepensis (Aleppo pine in a provenance trial, which is indirect evidence for genetic differences. Results obtained with three techniques (bench dehydration, centrifugation and X-ray micro-CT evidenced significant differentiation with similar ranking between provenances. Inter-provenance variation in P50 correlated with pit anatomical properties (torus overlap and pit aperture size. These results suggest that adaptation of P. halepensis to xeric habitats has been accompanied by modifications of bordered pit function driven by variation in pit aperture. This study thus provides evidence that appropriate exploitation of provenance differences will allow continued forestry with P. halepensis in future climates of the Eastern Mediterranean.

NICU nurse educators: what evidence supports your teaching strategies?

Science.gov (United States)

Pilcher, Jobeth

2013-01-01

One of our roles as nurse educators is to teach best practices related to patient care. However, have you ever stopped to think about what evidence supports your teaching strategies? Just as our patients deserve care that is based on the best available evidence, our learners also deserve education that is based on evidence.1-3 With so many advances in knowledge, technology, and even life itself, it is interesting that education has changed very little over the past 100 years. A study among 946 nurse educators documented that most teach the way they were taught.4 In addition, even after learning new strategies, educators often continue teaching in the manner they are most comfortable. However, this trend is beginning to change. Nurse educators are becoming increasingly aware of and willing to try new and innovative teaching strategies. Educators are also seeking out evidence-based teaching strategies and are becoming more involved in nursing education research.

Genetic evidence for a novel competence inhibitor in the industrially important Bacillus licheniformis.

Science.gov (United States)

Muth, Christine; Buchholz, Meike; Schmidt, Christina; Volland, Sonja; Meinhardt, Friedhelm

2017-12-01

Natural genetic competence renders bacteria able to take up and, in case there is sufficient homology to the recipient's chromosome, integrate exogenously supplied DNA. Well studied in Bacillus subtilis, genetic competence is-in several aspects-known to be differently regulated in Bacillus licheniformis. We now report on the identification of a novel, chromosomally encoded homolog of a competence inhibitor in B. licheniformis (ComI) that has hitherto only been described as a plasmid borne trait in the ancestral B. subtilis NCIB3610. Bioinformatical analysis that included 80 Bacillus strains covering 20 different species revealed a ComI encoding gene in all of the examined B. licheniformis representatives, and was identified in few among the other species investigated. The predicted ComI of B. licheniformis is a highly conserved peptide consisting of 28 amino acids. Since deletion of comI in B. licheniformis DSM13 resulted in twofold increased transformation efficiency by genetic competence and overexpression resulted in threefold decreased transformability, the function as a competence inhibitor became evident.

Evidence for the control of phytolith formation in Cucurbita fruits by the hard rind (Hr) genetic locus: Archaeological and ecological implications

Science.gov (United States)

Piperno, Dolores R.; Holst, Irene; Wessel-Beaver, Linda; Andres, Thomas C.

2002-01-01

Many angiosperms, both monocotyledons and dicotyledons, heavily impregnate their vegetative and reproductive organs with solid particles of silicon dioxide (SiO2) known as opaline phytoliths. The underlying mechanisms accounting for the formation of phytoliths in plants are poorly understood, however. Using wild and domesticated species in the genus Cucurbita along with their F1 and F2 progeny, we have demonstrated that the production of large diagnostic phytoliths in fruit rinds exhibits a one-to-one correspondence to the lignification of these structures. We propose that phytolith formation in Cucurbita fruits is primarily determined by a dominant genetic locus, called hard rind (Hr), previously shown to code for lignin deposition. If true, this evidence represents a demonstration of genetic control over phytolith production in a dicotyledon and provides considerable support to hypotheses that silica phytoliths constitute another important system of mechanical defense in plants. Our research also identifies Hr as another single locus controlling more than one important phenotypic difference between wild and domesticated plants, and establishes rind tissue cell structure and hardness under the effects of Hr as an important determinant of phytolith morphology. When recovered from pre-Columbian archaeological sites, Cucurbita phytoliths represent genetically controlled fossil markers of exploitation and domestication in this important economic genus. PMID:12149443

Stroke genetics: prospects for personalized medicine

Directory of Open Access Journals (Sweden)

Markus Hugh S

2012-09-01

Full Text Available Abstract Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke genes. The current findings are consistent with different stroke subtypes having different genetic architecture. These discoveries may identify novel pathways involved in stroke pathogenesis, and suggest new treatment approaches. However, the already identified genetic variants explain only a small proportion of overall stroke risk, and therefore are not currently useful in predicting risk for the individual patient. Such risk prediction may become a reality as identification of a greater number of stroke risk variants that explain the majority of genetic risk proceeds, and perhaps when information on rare variants, identified by whole-genome sequencing, is also incorporated into risk algorithms. Pharmacogenomics may offer the potential for earlier implementation of 'personalized genetic' medicine. Genetic variants affecting clopidogrel and warfarin metabolism may identify non-responders and reduce side-effects, but these approaches have not yet been widely adopted in clinical practice.

Genetic Stratification in Myeloid Diseases: From Risk Assessment to Clinical Decision Support Tool

Directory of Open Access Journals (Sweden)

Yishai Ofran

2014-10-01

Full Text Available Genetic aberrations have become a dominant factor in the stratification of myeloid malignancies. Cytogenetic and a few mutation studies are the backbone of risk assessment models of myeloid malignancies which are a major consideration in clinical decisions, especially patient assignment for allogeneic stem cell transplantation. Progress in our understanding of the genetic basis of the pathogenesis of myeloid malignancies and the growing capabilities of mass sequencing may add new roles for the clinical usage of genetic data. A few recently identified mutations recognized to be associated with specific diseases or clinical scenarios may soon become part of the diagnostic criteria of such conditions. Mutational studies may also advance our capabilities for a more efficient patient selection process, assigning the most effective therapy at the best timing for each patient. The clinical utility of genetic data is anticipated to advance further with the adoption of deep sequencing and next-generation sequencing techniques. We herein suggest some future potential applications of sequential genetic data to identify pending deteriorations at time points which are the best for aggressive interventions such as allogeneic stem cell transplantation. Genetics is moving from being mostly a prognostic factor to becoming a multitasking decision support tool for hematologists. Physicians must pay attention to advances in molecular hematology as it will soon be accessible and influential for most of our patients.

Uncovering the genetic history of the present-day greenlandic population

DEFF Research Database (Denmark)

Moltke, Ida; Fumagalli, Matteo; Korneliussen, Thorfinn Sand

2015-01-01

Because of past limitations in samples and genotyping technologies, important questions about the history of the present-day Greenlandic population remain unanswered. In an effort to answer these questions and in general investigate the genetic history of the Greenlandic population, we analyzed...... between the Norse Vikings who lived in Greenland for a limited period ∼600-1,000 years ago and the Inuit, we found no evidence supporting this hypothesis. Similarly, we found no evidence supporting a previously hypothesized admixture event between the Inuit in East Greenland and the Dorset people, who...

Evidence to support a conspecific nature of allopatric cytological races of Anopheles nitidus (Diptera: Culicidae) in Thailand.

Science.gov (United States)

Songsawatkiat, Siripan; Baimai, Visut; Thongsahuan, Sorawat; Otsuka, Yasushi; Taai, Kritsana; Hempolchom, Chayanit; Srisuka, Wichai; Poolphol, Petchaboon; Choochote, Wej; Saeung, Atiporn

2014-01-01

Metaphase karyotype investigation on two allopatric strains of Anopheles nitidus Harrison, Scanlon, and Reid (Diptera: Culicidae) was conducted in Thailand during 2011-2012. Five karyotypic forms, i.e., Form A (X1, Y1), Form B (X1, Y2), Form C (X2, Y3), Form D (X1, X3, Y4), and Form E (X1, X2, X3, Y5) were obtained from a total of 21 isofemale lines. Forms A, B, and C were confined to Phang Nga Province, southern Thailand, whereas Forms D and E were restricted to Ubon Ratchathani Province, northeastern Thailand. Cross-mating experiments among the five isofemale lines, which were representative of five karyotypic forms of An. nitidus, revealed genetic compatibility by providing viable progenies and synaptic salivary gland polytene chromosomes through F2 generations. The results suggest that the forms are conspecific, and An. nitidus comprises five cytological races. The very low intraspecific sequence variations (average genetic distances = 0.002-0.008) of the nucleotide sequences in ribosomal DNA (internal transcribed spacer 2) and mitochondrial DNA (cytochrome c oxidase subunits I and II) among the five karyotypic forms were very good supportive evidence. © The Author 2014. Published by Oxford University Press on behalf of the Entomological Society of America.

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

Science.gov (United States)

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Hybridization between multi-objective genetic algorithm and support vector machine for feature selection in walker-assisted gait.

Science.gov (United States)

Martins, Maria; Costa, Lino; Frizera, Anselmo; Ceres, Ramón; Santos, Cristina

2014-03-01

Walker devices are often prescribed incorrectly to patients, leading to the increase of dissatisfaction and occurrence of several problems, such as, discomfort and pain. Thus, it is necessary to objectively evaluate the effects that assisted gait can have on the gait patterns of walker users, comparatively to a non-assisted gait. A gait analysis, focusing on spatiotemporal and kinematics parameters, will be issued for this purpose. However, gait analysis yields redundant information that often is difficult to interpret. This study addresses the problem of selecting the most relevant gait features required to differentiate between assisted and non-assisted gait. For that purpose, it is presented an efficient approach that combines evolutionary techniques, based on genetic algorithms, and support vector machine algorithms, to discriminate differences between assisted and non-assisted gait with a walker with forearm supports. For comparison purposes, other classification algorithms are verified. Results with healthy subjects show that the main differences are characterized by balance and joints excursion in the sagittal plane. These results, confirmed by clinical evidence, allow concluding that this technique is an efficient feature selection approach. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Genetic structure and evidence of putative Darwinian diversifying selection in the Potato yellow vein virus (PYVV

Directory of Open Access Journals (Sweden)

Giovanni Chaves-Bedoya

2013-08-01

Full Text Available The population structure and genetic variation of Potato yellow vein virus (PYVV were estimated by analysis of the nucleotide and deduced amino acid sequence of the coat protein of 69 isolates, reported in GenBank, from Solanum tuberosum (ST and Solanum phureja (SP hosts from different regions; predominantly Cundinamarca, Antioquia and Nariño, located in central and southwestern Colombia. Bioinformatics analysis revealed that despite the wide geographic distribution of different hosts and different collecting years, PYVV maintains a genetic similarity between 97.1 to 100.0%, indicating high spatial and temporal genetic stability of the major coat protein. No recombination events were found, but evidence was seen for the first time that this protein could be undergoing Darwinian diversifying selection

Transcriptome-derived evidence supports recent polyploidization and a major phylogeographic division in Trithuria submersa (Hydatellaceae, Nymphaeales).

Science.gov (United States)

Marques, Isabel; Montgomery, Sean A; Barker, Michael S; Macfarlane, Terry D; Conran, John G; Catalán, Pilar; Rieseberg, Loren H; Rudall, Paula J; Graham, Sean W

2016-04-01

Relatively little is known about species-level genetic diversity in flowering plants outside the eudicots and monocots, and it is often unclear how to interpret genetic patterns in lineages with whole-genome duplications. We addressed these issues in a polyploid representative of Hydatellaceae, part of the water-lily order Nymphaeales. We examined a transcriptome of Trithuria submersa for evidence of recent whole-genome duplication, and applied transcriptome-derived microsatellite (expressed-sequence tag simple-sequence repeat (EST-SSR)) primers to survey genetic variation in populations across its range in mainland Australia. A transcriptome-based Ks plot revealed at least one recent polyploidization event, consistent with fixed heterozygous genotypes representing underlying sets of homeologous loci. A strong genetic division coincides with a trans-Nullarbor biogeographic boundary. Patterns of 'allelic' variation (no more than two variants per EST-SSR genotype) and recently published chromosomal evidence are consistent with the predicted polyploidization event and substantial homozygosity underlying fixed heterozygote SSR genotypes, which in turn reflect a selfing mating system. The Nullarbor Plain is a barrier to gene flow between two deep lineages of T. submersa that may represent cryptic species. The markers developed here should also be useful for further disentangling species relationships, and provide a first step towards future genomic studies in Trithuria. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

Genealogical evidence for epidemics of selfish genes.

Science.gov (United States)

Ingvarsson, Par K; Taylor, Douglas R

2002-08-20

Some genetic elements spread infectiously in populations by increasing their rate of genetic transmission at the expense of other genes in the genome. These so-called selfish genetic elements comprise a substantial portion of eukaryotic genomes and have long been viewed as a potent evolutionary force. Despite this view, little is known about the evolutionary history of selfish genetic elements in natural populations, or their genetic effects on other portions of the genome. Here we use nuclear and chloroplast gene genealogies in two species of Silene to show the historical pattern of selection on a well known selfish genetic element, cytoplasmic male sterility. We provide evidence that evolution of cytoplasmic male sterility has been characterized by frequent turnovers of mutations in natural populations, thus supporting an epidemic model for the evolution of selfish genes, where new mutations repeatedly arise and rapidly sweep through populations.

Genet-specific spawning patterns in Acropora palmata

Science.gov (United States)

Miller, M. W.; Williams, D. E.; Fisch, J.

2016-12-01

The broadcast spawning elkhorn coral, Acropora palmata, requires outcrossing among different genets for effective fertilization. Hence, a low density of genets in parts of its range emphasizes the need for precise synchrony among neighboring genets as sperm concentration dilutes rapidly in open-ocean conditions. We documented the genet-specific nightly occurrence of spawning of A. palmata over 8 yr in a depauperate population in the Florida Keys to better understand this potential reproductive hurdle. The observed population failed to spawn within the predicted monthly window (nights 2-6 after the full moon in August) in three of the 8 yr of observation; negligible spawning was observed in a fourth year. Moreover, genet-specific patterns are evident in that (1) certain genets have significantly greater odds of spawning overall and (2) certain genets predictably spawn on the earlier and others on the later lunar nights within the predicted window. Given the already low genet density in this population, this pattern implies a substantial degree of wasted reproductive effort and supports the hypothesis that depensatory factors are impairing recovery in this species.

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.

Science.gov (United States)

Tyrrell, Jessica; Richmond, Rebecca C; Palmer, Tom M; Feenstra, Bjarke; Rangarajan, Janani; Metrustry, Sarah; Cavadino, Alana; Paternoster, Lavinia; Armstrong, Loren L; De Silva, N Maneka G; Wood, Andrew R; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Bradfield, Jonathan P; Kreiner-Møller, Eskil; Huikari, Ville; Painter, Jodie N; Hottenga, Jouke-Jan; Allard, Catherine; Berry, Diane J; Bouchard, Luigi; Das, Shikta; Evans, David M; Hakonarson, Hakon; Hayes, M Geoffrey; Heikkinen, Jani; Hofman, Albert; Knight, Bridget; Lind, Penelope A; McCarthy, Mark I; McMahon, George; Medland, Sarah E; Melbye, Mads; Morris, Andrew P; Nodzenski, Michael; Reichetzeder, Christoph; Ring, Susan M; Sebert, Sylvain; Sengpiel, Verena; Sørensen, Thorkild I A; Willemsen, Gonneke; de Geus, Eco J C; Martin, Nicholas G; Spector, Tim D; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F A; Nohr, Ellen A; Jaddoe, Vincent W; Jacobsson, Bo; Murray, Jeffrey C; Hocher, Berthold; Hattersley, Andrew T; Scholtens, Denise M; Davey Smith, George; Hivert, Marie-France; Felix, Janine F; Hyppönen, Elina; Lowe, William L; Frayling, Timothy M; Lawlor, Debbie A; Freathy, Rachel M

2016-03-15

Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. To test for genetic evidence of causal associations of maternal body mass index (BMI) and related traits with birth weight. Mendelian randomization to test whether maternal BMI and obesity-related traits are potentially causally related to offspring birth weight. Data from 30,487 women in 18 studies were analyzed. Participants were of European ancestry from population- or community-based studies in Europe, North America, or Australia and were part of the Early Growth Genetics Consortium. Live, term, singleton offspring born between 1929 and 2013 were included. Genetic scores for BMI, fasting glucose level, type 2 diabetes, systolic blood pressure (SBP), triglyceride level, high-density lipoprotein cholesterol (HDL-C) level, vitamin D status, and adiponectin level. Offspring birth weight from 18 studies. Among the 30,487 newborns the mean birth weight in the various cohorts ranged from 3325 g to 3679 g. The maternal genetic score for BMI was associated with a 2-g (95% CI, 0 to 3 g) higher offspring birth weight per maternal BMI-raising allele (P = .008). The maternal genetic scores for fasting glucose and SBP were also associated with birth weight with effect sizes of 8 g (95% CI, 6 to 10 g) per glucose-raising allele (P = 7 × 10(-14)) and -4 g (95% CI, -6 to -2 g) per SBP-raising allele (P = 1×10(-5)), respectively. A 1-SD ( ≈ 4 points) genetically higher maternal BMI was associated with a 55-g higher offspring birth weight (95% CI, 17 to 93 g). A 1-SD ( ≈ 7.2 mg/dL) genetically higher maternal fasting glucose concentration was associated with 114-g higher offspring birth weight (95% CI, 80 to 147 g). However, a 1-SD ( ≈ 10 mm Hg) genetically higher maternal SBP was associated with a 208-g

Genetic evidence of hybridization between Onothera wolfii (Wolf's evening primrose) and O. glaziovana, a garden escape

Science.gov (United States)

Jennifer DeWoody; Leonel Arguello; David Imper; Robert D. Westfall; Valerie D. Hipkins

2008-01-01

Isozyme analysis of the rare Oenothera wolfii (Wolf's evening primrose) and the garden escape, O. glazioviana, indicates that hybridization between these species may be more widespread than morphological evidence indicates. Although both species contained low amounts of genetic variation, unique alleles were identified in...

Morphological and genetic evidence for early Holocene cattle management in northeastern China

DEFF Research Database (Denmark)

Zhang, Hucai; Paijmans, Johanna L. A.; Chang, Fengqin

2013-01-01

The domestication of cattle is generally accepted to have taken place in two independent centres: around 10,500 years ago in the Near East, giving rise to modern taurine cattle, and two millennia later in southern Asia, giving rise to zebu cattle. Here we provide firmly dated morphological...... and genetic evidence for early Holocene management of taurine cattle in northeastern China. We describe conjoining mandibles from this region that show evidence of oral stereotypy, dated to the early Holocene by two independent (14)C dates. Using Illumina high-throughput sequencing coupled with DNA...... hybridization capture, we characterize 15,406 bp of the mitogenome with on average 16.7-fold coverage. Phylogenetic analyses reveal a hitherto unknown mitochondrial haplogroup that falls outside the known taurine diversity. Our data suggest that the first attempts to manage cattle in northern China predate...

A Systematic Review of the Economic Evidence for Home Support Interventions in Dementia.

Science.gov (United States)

Clarkson, Paul; Davies, Linda; Jasper, Rowan; Loynes, Niklas; Challis, David

2017-09-01

Recent evidence signals the need for effective forms of home support to people with dementia and their carers. The cost-effectiveness evidence of different approaches to support is scant. To appraise economic evidence on the cost-effectiveness of home support interventions for dementia to inform future evaluation. A systematic literature review of full and partial economic evaluations was performed using the British National Health Service Economic Evaluation Database supplemented by additional references. Study characteristics and findings, including incremental cost-effectiveness ratios, when available, were summarized narratively. Study quality was appraised using the National Health Service Economic Evaluation Database critical appraisal criteria and independent ratings, agreed by two reviewers. Studies were located on a permutation matrix describing their mix of incremental costs/effects to aid decision making. Of the 151 articles retrieved, 14 studies met the inclusion criteria: 8 concerning support to people with dementia and 6 to carers. Five studies were incremental cost-utility analyses, seven were cost-effectiveness analyses, and two were cost consequences analyses. Five studies expressed incremental cost-effectiveness ratios as cost per quality-adjusted life-year (£6,696-£207,942 per quality-adjusted life-year). In four studies, interventions were dominant over usual care. Two interventions were more costly but more beneficial and were favorable against current acceptability thresholds. Occupational therapy, home-based exercise, and a carers' coping intervention emerged as cost-effective approaches for which there was better evidence. These interventions used environmental modifications, behavior management, physical activity, and emotional support as active components. More robust evidence is needed to judge the value of these and other interventions across the dementia care pathway. Copyright © 2017 International Society for Pharmacoeconomics and

Support Vector Regression and Genetic Algorithm for HVAC Optimal Operation

Directory of Open Access Journals (Sweden)

Ching-Wei Chen

2016-01-01

Full Text Available This study covers records of various parameters affecting the power consumption of air-conditioning systems. Using the Support Vector Machine (SVM, the chiller power consumption model, secondary chilled water pump power consumption model, air handling unit fan power consumption model, and air handling unit load model were established. In addition, it was found that R2 of the models all reached 0.998, and the training time was far shorter than that of the neural network. Through genetic programming, a combination of operating parameters with the least power consumption of air conditioning operation was searched. Moreover, the air handling unit load in line with the air conditioning cooling load was predicted. The experimental results show that for the combination of operating parameters with the least power consumption in line with the cooling load obtained through genetic algorithm search, the power consumption of the air conditioning systems under said combination of operating parameters was reduced by 22% compared to the fixed operating parameters, thus indicating significant energy efficiency.

The Talking Neanderthals: What Do Fossils, Genetics, and Archeology Say?

Directory of Open Access Journals (Sweden)

Sverker Johansson

2013-02-01

Full Text Available Did Neanderthals have language? This issue has been debated back and forth for decades, without resolution. But in recent years new evidence has become available. New fossils and archeological finds cast light on relevant Neanderthal anatomy and behavior. New DNA evidence, both fossil and modern, provides clues both to the relationship between Neanderthals and Homo sapiens, and to the genetics of language. In this paper, I review and evaluate the available evidence. My conclusion is that the preponderance of the evidence supports the presence of some form of language in Neanderthals.

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

DEFF Research Database (Denmark)

Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund

2017-01-01

Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English...... and validated with clinical genetics patients in the British NHS. This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee. Feedback on the first version was collected from genetic counseling patients...

Do species conservation assessments capture genetic diversity?

Directory of Open Access Journals (Sweden)

Malin C. Rivers

2014-12-01

Full Text Available The best known system for classifying threat status of species, the IUCN Red List, currently lacks explicit considerations of genetic diversity, and consequently may not account for potential adaptation of species to future environmental change. To address this gap, we integrate range-wide genetic analysis with IUCN Red List assessments.We calculated the loss of genetic diversity under simulated range loss for species of Delonix (Leguminosae. Simulated range loss involved random loss of populations and was intended to model ongoing habitat destruction. We found a strong relationship between loss of genetic diversity and range. Moreover, we found correspondence between levels of genetic diversity and thresholds for ‘non-threatened’ versus ‘threatened’ IUCN Red List categories.Our results support the view that current threat thresholds of the IUCN Red List criteria reflect genetic diversity, and hence evolutionary potential; although the genetic diversity distinction between threatened categories was less evident. Thus, by supplementing conventional conservation assessments with genetic data, new insights into the biological robustness of IUCN Red List assessments for targeted conservation initiatives can be achieved. Keywords: Conservation assessment, Conservation genetics, Extinction risk, Genetic diversity, IUCN Red List, Range

Genetic testing for exercise prescription and injury prevention: AIS-Athlome consortium-FIMS joint statement.

Science.gov (United States)

Vlahovich, Nicole; Hughes, David C; Griffiths, Lyn R; Wang, Guan; Pitsiladis, Yannis P; Pigozzi, Fabio; Bachl, Nobert; Eynon, Nir

2017-11-14

There has been considerable growth in basic knowledge and understanding of how genes are influencing response to exercise training and predisposition to injuries and chronic diseases. On the basis of this knowledge, clinical genetic tests may in the future allow the personalisation and optimisation of physical activity, thus providing an avenue for increased efficiency of exercise prescription for health and disease. This review provides an overview of the current status of genetic testing for the purposes of exercise prescription and injury prevention. As such there are a variety of potential uses for genetic testing, including identification of risks associated with participation in sport and understanding individual response to particular types of exercise. However, there are many challenges remaining before genetic testing has evidence-based practical applications; including adoption of international standards for genomics research, as well as resistance against the agendas driven by direct-to-consumer genetic testing companies. Here we propose a way forward to develop an evidence-based approach to support genetic testing for exercise prescription and injury prevention. Based on current knowledge, there is no current clinical application for genetic testing in the area of exercise prescription and injury prevention, however the necessary steps are outlined for the development of evidence-based clinical applications involving genetic testing.

Assessing Confidence in Performance Assessments Using an Evidence Support Logic Methodology: An Application of Tesla

International Nuclear Information System (INIS)

Egan, M.; Paulley, A.; Lehman, L.; Lowe, J.; Rochette, E.; Baker, St.

2009-01-01

The assessment of uncertainties and their implications is a key requirement when undertaking performance assessment (PA) of radioactive waste facilities. Decisions based on the outcome of such assessments become translated into judgments about confidence in the information they provide. This confidence, in turn, depends on uncertainties in the underlying evidence. Even if there is a large amount of information supporting an assessment, it may be only partially relevant, incomplete or less than completely reliable. In order to develop a measure of confidence in the outcome, sources of uncertainty need to be identified and adequately addressed in the development of the PA, or in any overarching strategic decision-making processes. This paper describes a trial application of the technique of Evidence Support Logic (ESL), which has been designed for application in support of 'high stakes' decisions, where important aspects of system performance are subject to uncertainty. The aims of ESL are to identify the amount of uncertainty or conflict associated with evidence relating to a particular decision, and to guide understanding of how evidence combines to support confidence in judgments. Elicitation techniques are used to enable participants in the process to develop a logical hypothesis model that best represents the relationships between different sources of evidence to the proposition under examination. The aim is to identify key areas of subjectivity and other sources of potential bias in the use of evidence (whether for or against the proposition) to support judgments of confidence. Propagation algorithms are used to investigate the overall implications of the logic according to the strength of the underlying evidence and associated uncertainties. (authors)

Genetic evidence of population structuring in the neotropical freshwater fish Brycon hilarii (Valenciennes, 1850

Directory of Open Access Journals (Sweden)

A Sanches

Full Text Available Brycon hilarii is a migratory fish widely distributed throughout the Paraguay River Basin. It is appreciated in sport fishing and for its superior meat quality. It is also the main species for tourist attraction in the Bonito region (State of Mato Grosso do Sul, Brazil. Considering the lack of information on the genetic structure of the fish of this species, the aim of the present study was to detect the genetic variability of Brycon hilarii through RAPD markers. A total of eighty specimens collected in different seasons at four sites of the Miranda River sub-basin (Paraguay River Basin, Brazil were used for analysis. The results of genetic similarity, Shannon diversity, and AMOVA revealed differences between the sampling sites. Through AMOVA, differences between populations were more evident among the animals collected during the non-reproductive season, corresponding to a time of less movement of these fish. A population structuring model in which B. hilarii appears organized into genetically differentiated reproductive units that coexist and co-migrate through the studied system was suggested, contrasting the currently accepted idea that freshwater migratory fish form large panmictic populations in a determined hydrographic system. Despite the lack of a complete picture regarding the distribution of B. hilarii in the studied region, this initial idea on its population genetic structure could be an important contribution to providing aid for management and conservation programs of these fish.

Genetic analysis of individual origins supports isolation of grizzly bears in the Greater Yellowstone Ecosystem

Science.gov (United States)

Haroldson, Mark A.; Schwartz, Charles; Kendall, Katherine C.; Gunther, Kerry A.; Moody, David S.; Frey, Kevin L.; Paetkau, David

2010-01-01

The Greater Yellowstone Ecosystem (GYE) supports the southernmost of the 2 largest remaining grizzly bear (Ursus arctos) populations in the contiguous United States. Since the mid-1980s, this population has increased in numbers and expanded in range. However, concerns for its long-term genetic health remain because of its presumed continued isolation. To test the power of genetic methods for detecting immigrants, we generated 16-locus microsatellite genotypes for 424 individual grizzly bears sampled in the GYE during 1983–2007. Genotyping success was high (90%) and varied by sample type, with poorest success (40%) for hair collected from mortalities found ≥1 day after death. Years of storage did not affect genotyping success. Observed heterozygosity was 0.60, with a mean of 5.2 alleles/marker. We used factorial correspondence analysis (Program GENETIX) and Bayesian clustering (Program STRUCTURE) to compare 424 GYE genotypes with 601 existing genotypes from grizzly bears sampled in the Northern Continental Divide Ecosystem (NCDE) (FST  =  0.096 between GYE and NCDE). These methods correctly classified all sampled individuals to their population of origin, providing no evidence of natural movement between the GYE and NCDE. Analysis of 500 simulated first-generation crosses suggested that over 95% of such bears would also be detectable using our 16-locus data set. Our approach provides a practical method for detecting immigration in the GYE grizzly population. We discuss estimates for the proportion of the GYE population sampled and prospects for natural immigration into the GYE.

Analysis of a genetically structured variance heterogeneity model using the Box-Cox transformation.

Science.gov (United States)

Yang, Ye; Christensen, Ole F; Sorensen, Daniel

2011-02-01

Over recent years, statistical support for the presence of genetic factors operating at the level of the environmental variance has come from fitting a genetically structured heterogeneous variance model to field or experimental data in various species. Misleading results may arise due to skewness of the marginal distribution of the data. To investigate how the scale of measurement affects inferences, the genetically structured heterogeneous variance model is extended to accommodate the family of Box-Cox transformations. Litter size data in rabbits and pigs that had previously been analysed in the untransformed scale were reanalysed in a scale equal to the mode of the marginal posterior distribution of the Box-Cox parameter. In the rabbit data, the statistical evidence for a genetic component at the level of the environmental variance is considerably weaker than that resulting from an analysis in the original metric. In the pig data, the statistical evidence is stronger, but the coefficient of correlation between additive genetic effects affecting mean and variance changes sign, compared to the results in the untransformed scale. The study confirms that inferences on variances can be strongly affected by the presence of asymmetry in the distribution of data. We recommend that to avoid one important source of spurious inferences, future work seeking support for a genetic component acting on environmental variation using a parametric approach based on normality assumptions confirms that these are met.

Are claims made in orthodontic journal advertisements evidence-supported?

Science.gov (United States)

Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

2015-03-01

To examine the supporting evidence of advertisements published in six leading orthodontic journals. The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European Journal of Orthodontics, Journal of Clinical Orthodontics, and Journal of Orofacial Orthopedics were screened for advertisements implying superior performance compared with competitor products. Advertisements were classified according to type of product, availability, and currency of supporting references. A total of 99 unique advertisements claiming clinical benefit or superiority were identified. The overwhelming majority of the identified advertisements promoted appliance products (62.6%), orthodontic materials (14.1%), and dental operatory equipment, including imaging systems (12.1%). Advertisements were found to provide references or not regardless of the product type. Half of the advertisements referred to at least one peer-reviewed publication, whereas unpublished studies were cited by 25% of the advertisements. Most of the referenced articles were published within the past 5 years. The scientific background of advertisements in the orthodontic literature appears limited. While surveillance of journal advertising needs to be regulated, clinicians are urged to critically appraise the claims being made in orthodontic print advertisements by consulting the associated existing evidence.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Czech Academy of Sciences Publication Activity Database

Schubert, S.A.; Ruano, D.; Elsayed, F.A.; Boot, A.; Crobach, S.; Sarasqueta, A.F.; Wolffenbuttel, B.; van der Klauw, M.M.; Oosting, J.; Tops, C.M.; van Eijk, R.; Vasen, H.F.; Vossen, R.H.; Nielsen, M.; Castellví-Bel, S.; Ruiz-Ponte, C.; Tomlinson, I.; Dunlop, M.G.; Vodička, Pavel; Wijnen, J.T.; Hes, F.J.; Morreau, H.; de Miranda, N.F.; Sijmons, R.H.; van Wezel, T.

2017-01-01

Roč. 117, č. 8 (2017), s. 1215-1223 ISSN 0007-0920 R&D Projects: GA MŠk(CZ) LD14050 Institutional support: RVO:68378041 Keywords : hereditary colorectal cancer * colorectal polyps * homozygosity mapping Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Biochemistry and molecular biology Impact factor: 6.176, year: 2016

Is the evidence supporting dental procedures strong? A survey of Cochrane systematic reviews in oral health.

Science.gov (United States)

Faggion, Clovis Mariano

2012-09-01

Every day a large number and variety of dental procedures are performed in clinical dental practice. There is, however, no information on the overall quality of evidence supporting these procedures. The objective of this study was to assess whether several common dental procedures are based on sound evidence. All Cochrane systematic reviews (CSR) published in dentistry were surveyed. The authors' conclusions about the quality of evidence supporting a specific clinical treatment were used as the measure of outcome. The evidence was considered adequate if the authors did not clearly state the evidence was weak in the conclusions while also suggesting some evidence of the effectiveness of the therapy. Of 120 CSRs assessed, in only 26 (22.0% of the reviews) was the quality of evidence regarded as adequate for supporting clinical decisions, although some methodological limitations were identified in the full text of these reviews. Moreover, the authors of most reviews reported weak or unavailable evidence. On the basis of CSRs, the overall quality of evidence can be regarded as low or nonexistent for most of the dental procedures assessed. The information reported may guide future research. Copyright © 2012 Elsevier Inc. All rights reserved.

'Faceness' and affectivity: evidence for genetic contributions to distinct components of electrocortical response to human faces.

Science.gov (United States)

Shannon, Robert W; Patrick, Christopher J; Venables, Noah C; He, Sheng

2013-12-01

The ability to recognize a variety of different human faces is undoubtedly one of the most important and impressive functions of the human perceptual system. Neuroimaging studies have revealed multiple brain regions (including the FFA, STS, OFA) and electrophysiological studies have identified differing brain event-related potential (ERP) components (e.g., N170, P200) possibly related to distinct types of face information processing. To evaluate the heritability of ERP components associated with face processing, including N170, P200, and LPP, we examined ERP responses to fearful and neutral face stimuli in monozygotic (MZ) and dizygotic (DZ) twins. Concordance levels for early brain response indices of face processing (N170, P200) were found to be stronger for MZ than DZ twins, providing evidence of a heritable basis to each. These findings support the idea that certain key neural mechanisms for face processing are genetically coded. Implications for understanding individual differences in recognition of facial identity and the emotional content of faces are discussed. Copyright © 2013 Elsevier Inc. All rights reserved.

Diversity of management strategies in Mesoamerican turkeys: archaeological, isotopic and genetic evidence

Science.gov (United States)

Manin, Aurelie; Corona-M, Eduardo; Craig, Abigail; Thornton, Erin Kennedy; Yang, Dongya Y.; Richards, Michael

2018-01-01

The turkey (Meleagris gallopavo) represents one of the few domestic animals of the New World. While current research points to distinct domestication centres in the Southwest USA and Mesoamerica, several questions regarding the number of progenitor populations, and the timing and intensity of turkey husbandry remain unanswered. This study applied ancient mitochondrial DNA and stable isotope (δ13C, δ15N) analysis to 55 archaeological turkey remains from Mexico to investigate pre-contact turkey exploitation in Mesoamerica. Three different (sub)species of turkeys were identified in the archaeological record (M. g. mexicana, M. g. gallopavo and M. ocellata), indicating the exploitation of diverse local populations, as well as the trade of captively reared birds into the Maya area. No evidence of shared maternal haplotypes was observed between Mesoamerica and the Southwest USA, in contrast with archaeological evidence for trade of other domestic products. Isotopic analysis indicates a range of feeding behaviours in ancient Mesoamerican turkeys, including wild foraging, human provisioning and mixed feeding ecologies. This variability in turkey diet decreases through time, with archaeological, genetic and isotopic evidence all pointing to the intensification of domestic turkey management and husbandry, culminating in the Postclassic period. PMID:29410864

Diversity of management strategies in Mesoamerican turkeys: archaeological, isotopic and genetic evidence.

Science.gov (United States)

Manin, Aurelie; Corona-M, Eduardo; Alexander, Michelle; Craig, Abigail; Thornton, Erin Kennedy; Yang, Dongya Y; Richards, Michael; Speller, Camilla F

2018-01-01

The turkey ( Meleagris gallopavo ) represents one of the few domestic animals of the New World. While current research points to distinct domestication centres in the Southwest USA and Mesoamerica, several questions regarding the number of progenitor populations, and the timing and intensity of turkey husbandry remain unanswered. This study applied ancient mitochondrial DNA and stable isotope ( δ 13 C, δ 15 N) analysis to 55 archaeological turkey remains from Mexico to investigate pre-contact turkey exploitation in Mesoamerica. Three different (sub)species of turkeys were identified in the archaeological record ( M. g. mexicana , M. g. gallopavo and M. ocellata ), indicating the exploitation of diverse local populations, as well as the trade of captively reared birds into the Maya area. No evidence of shared maternal haplotypes was observed between Mesoamerica and the Southwest USA, in contrast with archaeological evidence for trade of other domestic products. Isotopic analysis indicates a range of feeding behaviours in ancient Mesoamerican turkeys, including wild foraging, human provisioning and mixed feeding ecologies. This variability in turkey diet decreases through time, with archaeological, genetic and isotopic evidence all pointing to the intensification of domestic turkey management and husbandry, culminating in the Postclassic period.

Belief and disbelief in the existence of genetic risk factors for suicide: cross-cultural comparisons.

Science.gov (United States)

Voracek, Martin

2007-12-01

There is evidence for widespread disbelief in the genetics of suicide, despite recent research progress in this area and convergent evidence supporting a role for genetic factors. This study analyzed the beliefs held in 8 samples (total N = 1224) of various types (psychology, medical, and various undergraduates, psychology graduates, and the general population) from 6 countries located on 3 continents (Austria, Canada, Malaysia, Romania, United Kingdom, and the USA). Endorsement rates for the existence of genetic risk factors for suicide ranged from 26% and 30% (Austrian psychology undergraduates and general population) to around 50% (psychology undergraduates in the USA and United Kingdom). In the 8 samples, respondents' sex, age, religiosity, political orientation, and other demographic variables were, for the most part, unrelated, but overall knowledge about suicide throughout was related positively to endorsement rates. Consistent with previous research, across a considerable variety of sample types and cultural settings there was no evidence for a clear majority believing in genetic bases for suicide.

Evidence-Based Literacy Support: The "Literacy Octopus" Trial. Evaluation Report and Executive Summary

Science.gov (United States)

Lord, Pippa; Rabiasz, Adam; Roy, Palak; Harland, Jennie; Styles, Ben; Fowler, Katherine

2017-01-01

The Evidence-based Literacy Support-"Literacy Octopus" Trial tested a range of dissemination interventions and resources, all of which aimed to engage schools in using evidence-based materials to improve teaching and learning in Key Stage 2 literacy. Four delivery partners provided interventions. These included light-touch,…

Genetic Learning of Fuzzy Parameters in Predictive and Decision Support Modelling

Directory of Open Access Journals (Sweden)

Nebot

2012-04-01

Full Text Available In this research a genetic fuzzy system (GFS is proposed that performs discretization parameter learning in the context of the Fuzzy Inductive Reasoning (FIR methodology and the Linguistic Rule FIR (LR-FIR algorithm. The main goal of the GFS is to take advantage of the potentialities of GAs to learn the fuzzification parameters of the FIR and LR-FIR approaches in order to obtain reliable and useful predictive (FIR models and decision support (LR-FIR models. The GFS is evaluated in an e-learning context.

Genetic evidence for the association between the early growth response 3 (EGR3 gene and schizophrenia.

Directory of Open Access Journals (Sweden)

Rui Zhang

Full Text Available Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3 gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3 showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016 and allele frequency distribution (P = 0.009. Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012; a significant difference was found for the common haplotype AG (P = 0.0005. Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001. In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

Science.gov (United States)

Scott, Eric M; Halees, Anason; Itan, Yuval; Spencer, Emily G; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G

2016-09-01

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

DEFF Research Database (Denmark)

Tyrrell, Jessica; Richmond, Rebecca C; Palmer, Tom M

2016-01-01

IMPORTANCE: Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. OBJECTIVE: To test for genetic evidence...... of causal associations of maternal body mass index (BMI) and related traits with birth weight. DESIGN, SETTING, AND PARTICIPANTS: Mendelian randomization to test whether maternal BMI and obesity-related traits are potentially causally related to offspring birth weight. Data from 30,487 women in 18 studies...

Genetic Diversity and Evidence for Transmission of Streptococcus mutans by DiversiLab rep-PCR.

Science.gov (United States)

Momeni, Stephanie S; Whiddon, Jennifer; Cheon, Kyounga; Ghazal, Tariq; Moser, Stephen A; Childers, Noel K

2016-09-01

This two-part study investigated the genetic diversity and transmission of Streptococcus mutans using the DiversiLab repetitive extragenic palindromic PCR (rep-PCR) approach. For children with S. mutans and participating household members, analysis for evidence of unrelated child-to-child as well as intra-familial transmission was evaluated based on commonality of genotypes. A total of 169 index children and 425 household family members from Uniontown, Alabama were evaluated for genetic diversity using rep-PCR. Thirty-four unique rep-PCR genotypes were observed for 13,906 S. mutans isolates. For transmission, 117 child and household isolates were evaluated for shared genotype (by child and by genotype cases, multiple matches possible for each child). Overall, children had 1-9 genotypes and those with multiple genotypes were 2.3 times more likely to have caries experience (decayed, missing and filled teeth/surfaces>0). Only 28% of children shared all genotypes within the household, while 72% had at least 1 genotype not shared with anyone in the household. Children had genotype(s) not shared with any household members in 157 cases. In 158 cases children and household members shared a genotype in which 55% (87/158 cases) were shared with more than one family member. Children most frequently shared genotypes with their mothers (54%; 85/158), siblings (46%; 72/158) and cousins (23%; 37/158). A reference library for S. mutans for epidemiological surveillance using the DiversiLab rep-PCR approach is detailed. The genetic diversity of S. mutans in this population demonstrated frequent commonality of genotypes. Evidence for both child-to-child and intra-familial transmission of S. mutans was observed by rep-PCR. Copyright © 2016 Elsevier B.V. All rights reserved.

Exploring Nurse Manager Support of Evidence-Based Practice: Clinical Nurse Perceptions.

Science.gov (United States)

Caramanica, Laura; Spiva, LeeAnna

2018-05-01

The study identifies what constitutes nurse manager (NM) support and other resources that enable clinical nurses (CNs) to engage in evidence-based practice (EBP). Clinical nurses report that NM support enables them to use EBP but what constitutes NM support is still unclear. Nurse managers, CNs, and EBP mentors received specialized education and use a team approach for EBP. Data were collected preintervention, mid-intervention, and postintervention from observations, interviews, journaling, and surveys. Results demonstrate how NMs can perform their role responsibilities and still engage CNs to develop a spirit of inquiry, seek answers to their clinical questions using EBP, and advance their clinical performance to improve patient outcomes. Four NM supportive behaviors emerged: cultivating a shared EBP vision, ensuring use of EBP, communicating the value of EBP, and providing resources for EBP. Through education and support, NMs describe supportive behaviors necessary for the successful conduction of EBP by CNs.

Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study.

Science.gov (United States)

Greven, Corina U; Kovas, Yulia; Willcutt, Erik G; Petrill, Stephen A; Plomin, Robert

2014-01-01

Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents rated each twin's behaviour using a DSM-IV-based 18-item questionnaire of inattentive and hyperactive-impulsive ADHD symptoms. Mathematics tests based on the UK National Curriculum were completed by each twin. The twins also completed standardised tests of reading and general cognitive ability. Multivariate twin model fitting was applied. Inattentive and hyperactive-impulsive ADHD symptoms were highly heritable (67% and 73% respectively). Mathematics ability was moderately heritable (46%). Mathematics ability and inattentiveness showed a significantly greater phenotypic correlation (r(p) = -.26) and genetic correlation (r(A) = -.41) than mathematics ability and hyperactivity-impulsivity (r(p) = -.18; r(A) = -.22). The genetic correlation between inattentiveness and mathematics ability was largely independent from hyperactivity-impulsivity, and was only partially accounted for by genetic influences related to reading and general cognitive ability. Results revealed the novel finding that mathematics ability shows significantly stronger phenotypic and genetic associations with inattentiveness than with hyperactivity-impulsivity. Genetic associations between inattentiveness and mathematics ability could only partially be accounted for by hyperactivity-impulsivity, reading and general cognitive ability. Results suggest that mathematics ability is associated with ADHD symptoms largely because it shares genetic risk factors with inattentiveness, and provide further evidence for considering inattentiveness and hyperactivity-impulsivity separately. DNA markers for ADHD symptoms (especially inattentiveness) may also be candidate risk factors for

Behavioral Genetics in Criminal and Civil Courts.

Science.gov (United States)

Sabatello, Maya; Appelbaum, Paul S

Although emerging findings in psychiatric and behavioral genetics create hope for improved prevention, diagnosis, and treatment of disorders, the introduction of such data as evidence in criminal and civil proceedings raises a host of ethical, legal, and social issues. Should behavioral and psychiatric genetic data be admissible in judicial proceedings? If so, what are the various means for obtaining such evidence, and for what purposes should its admission be sought and permitted? How could-and should-such evidence affect judicial outcomes in criminal and civil proceedings? And what are the potential implications of using behavioral and psychiatric genetic evidence for individuals and communities, and for societal values of equality and justice? This article provides an overview of the historical and current developments in behavioral genetics. We then explore the extent to which behavioral genetic evidence has-and should-affect determinations of criminal responsibility and sentencing, as well as the possible ramifications of introducing such evidence in civil courts, with a focus on tort litigation and child custody disputes. We also consider two ways in which behavioral genetic evidence may come to court in the future-through genetic theft or the subpoena of a litigant's biospecimen data that was previously obtained for clinical or research purposes-and the concerns that these possibilities raise. Finally, we highlight the need for caution and for approaches to prevent the misuse of behavioral genetic evidence in courts.

Comparative population genetics of two invading ticks: Evidence of the ecological mechanisms underlying tick range expansions.

Science.gov (United States)

Nadolny, Robyn; Gaff, Holly; Carlsson, Jens; Gauthier, David

2015-10-01

Two species of ixodid tick, Ixodes affinis Neumann and Amblyomma maculatum Koch, are simultaneously expanding their ranges throughout the mid-Atlantic region of the US. Although we have some understanding of the ecology and life history of these species, the ecological mechanisms governing where and how new populations establish and persist are unclear. To assess population connectivity and ancestry, we sequenced a fragment of the 16S mitochondrial rRNA gene from a representative sample of individuals of both species from populations throughout the eastern US. We found that despite overlapping host preferences throughout ontogeny, each species exhibited very different genetic and geographic patterns of population establishment and connectivity. I. affinis was of two distinct mitochondrial clades, with a clear geographic break separating northern and southern populations. Both I. affinis populations showed evidence of recent expansion, although the southern population was more genetically diverse, indicating a longer history of establishment. A. maculatum exhibited diverse haplotypes that showed no significant relationship with geographic patterns and little apparent connectivity between sites. Heteroplasmy was also observed in the 16S mitochondrial rRNA gene in 3.5% of A. maculatum individuals. Genetic evidence suggests that these species rely on different key life stages to successfully disperse into novel environments, and that host vagility, habitat stability and habitat connectivity all play critical roles in the establishment of new tick populations. Copyright © 2015 Elsevier B.V. All rights reserved.

Evidence of genetic differentiation and karyotype evolution of the sedges Cyperus ligularis L. and C. odoratus L. (Cyperaceae

Directory of Open Access Journals (Sweden)

Geyner Alves dos Santos Cruz

2018-01-01

Full Text Available ABSTRACT The taxonomy of Cyperaceae is complex, with genera like Cyperus harboring species complexes. We analyzed the genetic similarity between Cyperus ligularis L. and C. odoratus L. based on DNA fingerprinting and cytogenetics. Significative genetic differentiation (G ST = 0.363 and low gene flow (N m = 0.877 indicated a clear genetic distinction between the two species. Moreover, the clustering analysis showed two distinct genetic groups, suggesting a lack of evidence for hybridization. The phenogram revealed two different lineages, and although all individuals of C. odoratus were collected from plots close to each other, they possessed greater genetic diversity than that observed among individuals of C. ligularis, which were sampled over a wider geographic range. Variation in chromosome number within the two species exhibited the opposite pattern, indicating greater karyotype stability in C. odoratus with 2n = 72 and 2n = 76, while the diploid number for C. ligularis varied from 2n = 66 to 88. The lower genetic variation in C. ligularis may be a result of the founder effect associated with seed dispersion and clonal reproduction. Field observations and analysis of reproductive biology should enrich the understanding of the genetic structure of the investigated populations and their role in successional processes.

Genetic component of flammability variation in a Mediterranean shrub.

Science.gov (United States)

Moreira, B; Castellanos, M C; Pausas, J G

2014-03-01

Recurrent fires impose a strong selection pressure in many ecosystems worldwide. In such ecosystems, plant flammability is of paramount importance because it enhances population persistence, particularly in non-resprouting species. Indeed, there is evidence of phenotypic divergence of flammability under different fire regimes. Our general hypothesis is that flammability-enhancing traits are adaptive; here, we test whether they have a genetic component. To test this hypothesis, we used the postfire obligate seeder Ulex parviflorus from sites historically exposed to different fire recurrence. We associated molecular variation in potentially adaptive loci detected with a genomic scan (using AFLP markers) with individual phenotypic variability in flammability across fire regimes. We found that at least 42% of the phenotypic variation in flammability was explained by the genetic divergence in a subset of AFLP loci. In spite of generalized gene flow, the genetic variability was structured by differences in fire recurrence. Our results provide the first field evidence supporting that traits enhancing plant flammability have a genetic component and thus can be responding to natural selection driven by fire. These results highlight the importance of flammability as an adaptive trait in fire-prone ecosystems. © 2014 John Wiley & Sons Ltd.

An 'integrative neuroscience' perspective on ADHD: linking cognition, emotion, brain and genetic measures with implications for clinical support.

Science.gov (United States)

Williams, Leanne M; Tsang, Tracey W; Clarke, Simon; Kohn, Michael

2010-10-01

There remains a translational gap between research findings and their implementation in clinical practice that applies to attention-deficit/hyperactivity disorder (ADHD), as well as to other major disorders of brain health in childhood, adolescence and adulthood. Research studies have identified potential 'markers' to support diagnostic, functional assessment and treatment decisions, but there is little consensus about these markers. Of these potential markers, cognitive measures of thinking functions, such as sustaining attention and associated electrical brain activity, show promise in complementing the clinical management process. Emerging evidence highlights the relevance of emotional, as well as thinking, functions to ADHD. Here, we outline an integrative neuroscience framework for ADHD that offers one means to bring together cognitive measures of thinking functions with measures of emotion, and their brain and genetic correlates. Understanding these measures and the relationships between them is a first step towards the development of tools that will help to assess the heterogeneity of ADHD, and aid in tailoring treatment choices.

Neighborhood alcohol outlet density and genetic influences on alcohol use: evidence for gene-environment interaction.

Science.gov (United States)

Slutske, Wendy S; Deutsch, Arielle R; Piasecki, Thomas M

2018-05-07

Genetic influences on alcohol involvement are likely to vary as a function of the 'alcohol environment,' given that exposure to alcohol is a necessary precondition for genetic risk to be expressed. However, few gene-environment interaction studies of alcohol involvement have focused on characteristics of the community-level alcohol environment. The goal of this study was to examine whether living in a community with more alcohol outlets would facilitate the expression of the genetic propensity to drink in a genetically-informed national survey of United States young adults. The participants were 2434 18-26-year-old twin, full-, and half-sibling pairs from Wave III of the National Longitudinal Study of Adolescent to Adult Health. Participants completed in-home interviews in which alcohol use was assessed. Alcohol outlet densities were extracted from state-level liquor license databases aggregated at the census tract level to derive the density of outlets. There was evidence that the estimates of genetic and environmental influences on alcohol use varied as a function of the density of alcohol outlets in the community. For example, the heritability of the frequency of alcohol use for those residing in a neighborhood with ten or more outlets was 74% (95% confidence limits = 55-94%), compared with 16% (95% confidence limits = 0-34%) for those in a neighborhood with zero outlets. This moderating effect of alcohol outlet density was not explained by the state of residence, population density, or neighborhood sociodemographic characteristics. The results suggest that living in a neighborhood with many alcohol outlets may be especially high-risk for those individuals who are genetically predisposed to frequently drink.

Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine.

Science.gov (United States)

Austin, Jehannine; Semaka, Alicia; Hadjipavlou, George

2014-12-01

Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals. In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new--in 1979 Seymour Kessler explicitly described genetic counseling as a "kind of psychotherapeutic encounter," an "interaction with a psychotherapeutic potential"--we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple "conduit for information" function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice.

Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris.

LENUS (Irish Health Repository)

Bowes, John

2011-06-01

There is great interest in the identification of genetic factors that differentiate psoriatic arthritis (PsA) from psoriasis vulgaris (PsV), as such discoveries could lead to the identification of distinct underlying aetiological pathways. Recent studies identified single nucleotide polymorphisms (SNPs) in the interleukin 13 (IL-13) gene region as risk factors for PsV. Further investigations in one of these studies found the effect to be primarily restricted to PsA, thus suggesting the discovery of a specific genetic risk factor for PsA. Given this intriguing evidence, association to this gene was investigated in large collections of PsA and PsV patients and healthy controls.

The diagnosis of male infertility: an analysis of the evidence to support the development of global WHO guidance-challenges and future research opportunities.

Science.gov (United States)

Barratt, Christopher L R; Björndahl, Lars; De Jonge, Christopher J; Lamb, Dolores J; Osorio Martini, Francisco; McLachlan, Robert; Oates, Robert D; van der Poel, Sheryl; St John, Bianca; Sigman, Mark; Sokol, Rebecca; Tournaye, Herman

2017-11-01

Herein, we describe the consensus guideline methodology, summarize the evidence-based recommendations we provided to the World Health Organization (WHO) for their consideration in the development of global guidance and present a narrative review of the diagnosis of male infertility as related to the eight prioritized (problem or population (P), intervention (I), comparison (C) and outcome(s) (O) (PICO)) questions. Additionally, we discuss the challenges and research gaps identified during the synthesis of this evidence. The aim of this paper is to present an evidence-based approach for the diagnosis of male infertility as related to the eight prioritized PICO questions. Collating the evidence to support providing recommendations involved a collaborative process as developed by WHO, namely: identification of priority questions and critical outcomes; retrieval of up-to-date evidence and existing guidelines; assessment and synthesis of the evidence; and the formulation of draft recommendations to be used for reaching consensus with a wide range of global stakeholders. For each draft recommendation the quality of the supporting evidence was then graded and assessed for consideration during a WHO consensus. Evidence was synthesized and recommendations were drafted to address the diagnosis of male infertility specifically encompassing the following: What is the prevalence of male infertility and what proportion of infertility is attributable to the male? Is it necessary for all infertile men to undergo a thorough evaluation? What is the clinical (ART/non ART) value of traditional semen parameters? What key male lifestyle factors impact on fertility (focusing on obesity, heat and tobacco smoking)? Do supplementary oral antioxidants or herbal therapies significantly influence fertility outcomes for infertile men? What are the evidence-based criteria for genetic screening of infertile men? How does a history of neoplasia and related treatments in the male impact on (his and

New evidence: data documenting parental support for earlier sexuality education.

Science.gov (United States)

Barr, Elissa M; Moore, Michele J; Johnson, Tammie; Forrest, Jamie; Jordan, Melissa

2014-01-01

Numerous studies document support for sexuality education to be taught in high school, and often, in middle school. However, little research has been conducted addressing support for sexuality education in elementary schools. As part of the state Behavioral Risk Factor Surveillance System (BRFSS) Survey administration, the Florida Department of Health conducted the Florida Child Health Survey (FCHS) by calling back parents who had children in their home and who agreed to participate (N = 1715). Most parents supported the following sexuality education topics being taught specifically in elementary school: communication skills (89%), human anatomy/reproductive information (65%), abstinence (61%), human immunodeficiency virus (HIV)/sexually transmitted infections (STIs) (53%), and gender/sexual orientation issues (52%). Support was even greater in middle school (62-91%) and high school (72-91%) for these topics and for birth control and condom education. Most parents supported comprehensive sexuality education (40.4%), followed by abstinence-plus (36.4%) and abstinence-only (23.2%). Chi-square results showed significant differences in the type of sexuality education supported by almost all parent demographic variables analyzed including sex, race, marital status, and education. Results add substantial support for age-appropriate school-based sexuality education starting at the elementary school level, the new National Sexuality Education Standards, and funding to support evidence-based abstinence-plus or comprehensive sexuality education. © 2013, American School Health Association.

Genetic variability of the tokay gecko based on mitochondrial and nuclear DNA.

Science.gov (United States)

Wang, Gaochao; Gong, Shu; Jiang, Lichun; Peng, Rui; Shan, Xiang; Zou, Dandan; Yang, Chengzhong; Zou, Fangdong

2013-10-01

With largely allopatric distribution, the black tokay and the red tokay are two distinct morphs of the subspecies Gekko gecko gecko. In consideration of their different morphological characteristics, the taxonomic status of G. g. gecko is disputed. Through detailed morphological comparison, it has been proposed that the black tokay should be elevated to species ranking, but without strong genetic evidence. In order to further investigate the taxonomic status of the tokay gecko (G. gecko), we used one mitochondrial marker (ND2) and three nuclear markers (RAG1, c-mos, and ITS2) to explore the phylogenetic and taxonomic relationship of the tokay gecko. Our results revealed a deep phylogeographical divergence in tokay gecko and at the same time provided us with the evidence of possible introgressive hybridization or/and incomplete lineage sorting between the black tokay and the red tokay. The elevation of the black tokay to species level is also supported by our results. However, due to limited sampling and genetic data, this elevation should be further corroborated by more genetic evidence.

Evidence-informed health policy 1 - synthesis of findings from a multi-method study of organizations that support the use of research evidence.

Science.gov (United States)

Lavis, John N; Oxman, Andrew D; Moynihan, Ray; Paulsen, Elizabeth J

2008-12-17

Organizations have been established in many countries and internationally to support the use of research evidence by producing clinical practice guidelines, undertaking health technology assessments, and/or directly supporting the use of research evidence in developing health policy on an international, national, and state or provincial level. Learning from these organizations can reduce the need to 'reinvent the wheel' and inform decisions about how best to organize support for such organizations, particularly in low- and middle-income countries (LMICs). We undertook a multi-method study in three phases - a survey, interviews, and case descriptions that drew on site visits - and in each of the second and third phases we focused on a purposive sample of those involved in the previous phase. We used the seven main recommendations that emerged from the advice offered in the interviews to organize much of the synthesis of findings across phases and methods. We used a constant comparative method to identify themes from across phases and methods. Seven recommendations emerged for those involved in establishing or leading organizations that support the use of research evidence in developing health policy: 1) collaborate with other organizations; 2) establish strong links with policymakers and involve stakeholders in the work; 3) be independent and manage conflicts of interest among those involved in the work; 4) build capacity among those working in the organization; 5) use good methods and be transparent in the work; 6) start small, have a clear audience and scope, and address important questions; and 7) be attentive to implementation considerations, even if implementation is not a remit. Four recommendations emerged for the World Health Organization (WHO) and other international organizations and networks: 1) support collaborations among organizations; 2) support local adaptation efforts; 3) mobilize support; and 4) create global public goods. This synthesis of

Legal implications of genetics and crime research.

Science.gov (United States)

Denno, D W

1996-01-01

Two controversial topics dominate discussions of the legal implications of genetics and crime research; (1) the viability and politics of such research, which has sparked fervent debate in the USA; and (2) the current status of new or atypical criminal law defences, which would include a genetic-defect defence to criminal behaviour. This chapter begins by examining the scientifically discredited XYY chromosome syndrome defence, the major genetic-defect defence that defendants have attempted, albeit unsuccessfully. It then focuses on attorneys' efforts to test for evidence of genetic abnormality in the recent and highly publicized case involving convicted murderer Stephen Mobley, whose family history reveals four generations of violent, aggressive and behaviourally disordered men and women. Mobley is currently appealing his death sentence before the Georgia Supreme Court on the basis that the trial court denied his request both to have genetic testing performed and to have such testing allowed as evidence into court. This chapter concludes by emphasizing that the question is not whether genetic evidence will ever be admitted into court, but when and under what kinds of circumstances. No doubt, genetic evidence, and comparable kinds of biological evidence, will have a major impact on juries when such evidence is more fully accepted by the legal and scientific communities.

Organizational supports used by private child and family serving agencies to facilitate evidence use: a mixed methods study protocol.

Science.gov (United States)

Chuang, Emmeline; Collins-Camargo, Crystal; McBeath, Bowen

2017-04-08

Challenges to evidence use are well documented. Less well understood are the formal supports-e.g., technical infrastructure, inter-organizational relationships-organizations may put in place to help overcome these challenges. This study will identify supports for evidence use currently used by private child and family serving agencies delivering publicly funded behavioral health and/or human services; examine contextual, organizational, and managerial factors associated with use of such supports; and determine how identified supports affect evidence use by staff at multiple levels of the organization. We will use a sequential explanatory mixed methods design, with study activities occurring in two sequential phases: In phase 1, quantitative survey data collected from managers of private child and family serving agencies in six states (CA, IN, KY, MO, PA, and WI) and analyzed using both regression and qualitative comparative analysis (QCA) will identify organizational supports currently being used to facilitate evidence use and examine the contextual, organizational, and managerial factors associated with the use of such supports. In phase 2, data from phase 1 will be used to select a purposive sample of 12 agencies for in-depth case studies. In those 12 agencies, semi-structured interviews with key informants and managers, focus groups with frontline staff, and document analysis will provide further insight into agencies' motivation for investing in organizational supports for evidence use and the facilitators and barriers encountered in doing so. Semi-structured interviews with managers and focus groups with frontline staff will also assess whether and how identified supports affect evidence use at different levels of the organization (senior executives, middle managers, frontline supervisors, and frontline staff). Within- and between-case analyses supplemented by QCA will identify combinations of factors associated with the highest and lowest levels of staff

Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms

Directory of Open Access Journals (Sweden)

Tirupati S

2008-12-01

Full Text Available Abstract Background Major population movements, social structure, and caste endogamy have influenced the genetic structure of Indian populations. An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations. Results We report new data on 155 individuals from four Tamil caste populations of South India and perform comparative analyses with caste populations from the neighboring state of Andhra Pradesh. Genetic differentiation among Tamil castes is low (RST = 0.96% for 45 autosomal short tandem repeat (STR markers, reflecting a largely common origin. Nonetheless, caste- and continent-specific patterns are evident. For 32 lineage-defining Y-chromosome SNPs, Tamil castes show higher affinity to Europeans than to eastern Asians, and genetic distance estimates to the Europeans are ordered by caste rank. For 32 lineage-defining mitochondrial SNPs and hypervariable sequence (HVS 1, Tamil castes have higher affinity to eastern Asians than to Europeans. For 45 autosomal STRs, upper and middle rank castes show higher affinity to Europeans than do lower rank castes from either Tamil Nadu or Andhra Pradesh. Local between-caste variation (Tamil Nadu RST = 0.96%, Andhra Pradesh RST = 0.77% exceeds the estimate of variation between these geographically separated groups (RST = 0.12%. Low, but statistically significant, correlations between caste rank distance and genetic distance are demonstrated for Tamil castes using Y-chromosome, mtDNA, and autosomal data. Conclusion Genetic data from Y-chromosome, mtDNA, and autosomal STRs are in accord with historical accounts of northwest to southeast population movements in India. The influence of ancient and historical population movements and caste social structure can be detected and replicated in South Indian caste populations from two different geographic regions.

Sensation seeking, peer deviance, and genetic influences on adolescent delinquency: Evidence for person-environment correlation and interaction.

Science.gov (United States)

Mann, Frank D; Patterson, Megan W; Grotzinger, Andrew D; Kretsch, Natalie; Tackett, Jennifer L; Tucker-Drob, Elliot M; Harden, K Paige

2016-07-01

Both sensation seeking and affiliation with deviant peer groups are risk factors for delinquency in adolescence. In this study, we use a sample of adolescent twins (n = 549), 13 to 20 years old (M age = 15.8 years), in order to test the interactive effects of peer deviance and sensation seeking on delinquency in a genetically informative design. Consistent with a socialization effect, affiliation with deviant peers was associated with higher delinquency even after controlling for selection effects using a co-twin-control comparison. At the same time, there was evidence for person-environment correlation; adolescents with genetic dispositions toward higher sensation seeking were more likely to report having deviant peer groups. Genetic influences on sensation seeking substantially overlapped with genetic influences on adolescent delinquency. Finally, the environmentally mediated effect of peer deviance on adolescent delinquency was moderated by individual differences in sensation seeking. Adolescents reporting high levels of sensation seeking were more susceptible to deviant peers, a Person × Environment interaction. These results are consistent with both selection and socialization processes in adolescent peer relationships, and they highlight the role of sensation seeking as an intermediary phenotype for genetic risk for delinquency. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Molecular genetic studies of natives on Easter Island: evidence of an early European and Amerindian contribution to the Polynesian gene pool.

Science.gov (United States)

Lie, B A; Dupuy, B M; Spurkland, A; Fernández-Viña, M A; Hagelberg, E; Thorsby, E

2007-01-01

Most archaeological and linguistic evidence suggest a Polynesian origin of the population of Easter Island (Rapanui), and this view has been supported by the identification of Polynesian mitochondrial DNA (mtDNA) polymorphisms in prehistoric skeletal remains. However, some evidence of an early South American contact also exists (the sweet potato, bottle gourd etc.), but genetic studies have so far failed to show an early Amerindian contribution to the gene pool on Easter Island. To address this issue, we analyzed mtDNA and Y chromosome markers and performed high-resolution human leukocyte antigen (HLA) genotyping of DNA harvested from previously collected sera of 48 reputedly nonadmixed native Easter Islanders. All individuals carried mtDNA types and HLA alleles previously found in Polynesia, and most men carried Y chromosome markers of Polynesian origin, providing further evidence of a Polynesian origin of the population of Easter Island. A few individuals carried HLA alleles and/or Y chromosome markers of European origin. More interestingly, some individuals carried the HLA alleles A*0212 and B*3905, which are of typical Amerindian origin. The genealogy of some of the individuals carrying these non-Polynesian HLA alleles and their haplotypic backgrounds suggest an introduction into Easter Island in the early 1800s, or earlier. Thus, there may have been an early European and Amerindian contribution to the Polynesian gene pool of Easter Island.

Sustainability of evidence-based healthcare: research agenda, methodological advances, and infrastructure support.

Science.gov (United States)

Proctor, Enola; Luke, Douglas; Calhoun, Annaliese; McMillen, Curtis; Brownson, Ross; McCrary, Stacey; Padek, Margaret

2015-06-11

Little is known about how well or under what conditions health innovations are sustained and their gains maintained once they are put into practice. Implementation science typically focuses on uptake by early adopters of one healthcare innovation at a time. The later-stage challenges of scaling up and sustaining evidence-supported interventions receive too little attention. This project identifies the challenges associated with sustainability research and generates recommendations for accelerating and strengthening this work. A multi-method, multi-stage approach, was used: (1) identifying and recruiting experts in sustainability as participants, (2) conducting research on sustainability using concept mapping, (3) action planning during an intensive working conference of sustainability experts to expand the concept mapping quantitative results, and (4) consolidating results into a set of recommendations for research, methodological advances, and infrastructure building to advance understanding of sustainability. Participants comprised researchers, funders, and leaders in health, mental health, and public health with shared interest in the sustainability of evidence-based health care. Prompted to identify important issues for sustainability research, participants generated 91 distinct statements, for which a concept mapping process produced 11 conceptually distinct clusters. During the conference, participants built upon the concept mapping clusters to generate recommendations for sustainability research. The recommendations fell into three domains: (1) pursue high priority research questions as a unified agenda on sustainability; (2) advance methods for sustainability research; (3) advance infrastructure to support sustainability research. Implementation science needs to pursue later-stage translation research questions required for population impact. Priorities include conceptual consistency and operational clarity for measuring sustainability, developing evidence

The information infrastructure that supports evidence-based veterinary medicine: a comparison with human medicine.

Science.gov (United States)

Toews, Lorraine

2011-01-01

In human medicine, the information infrastructure that supports the knowledge translation processes of exchange, synthesis, dissemination, and application of the best clinical intervention research has developed significantly in the past 15 years, facilitating the uptake of research evidence by clinicians as well as the practice of evidence-based medicine. Seven of the key elements of this improved information infrastructure are clinical trial registries, research reporting standards, systematic reviews, organizations that support the production of systematic reviews, the indexing of clinical intervention research in MEDLINE, clinical search filters for MEDLINE, and point-of-care decision support information resources. The objective of this paper is to describe why these elements are important for evidence-based medicine, the key developments and issues related to these seven information infrastructure elements in human medicine, how these 7 elements compare with the corresponding infrastructure elements in veterinary medicine, and how all of these factors affect the translation of clinical intervention research into clinical practice. A focused search of the Ovid MEDLINE database was conducted for English language journal literature published between 2000 and 2010. Two bibliographies were consulted and selected national and international Web sites were searched using Google. The literature reviewed indicates that the information infrastructure supporting evidence-based veterinary medicine practice in all of the 7 elements reviewed is significantly underdeveloped in relation to the corresponding information infrastructure in human medicine. This lack of development creates barriers to the timely translation of veterinary medicine research into clinical practice and also to the conduct of both primary clinical intervention research and synthesis research.

Genetic variation in the extended major histocompatibility complex and susceptibility to childhood acute lymphoblastic leukemia: a review of the evidence

Directory of Open Access Journals (Sweden)

Kevin Y Urayama

2013-12-01

Full Text Available The enduring suspicion that infections and immunologic response may play a role in the etiology of childhood leukemia, particularly acute lymphoblastic leukemia (ALL, is now supported, albeit still indirectly, by numerous epidemiological studies. The cumulative evidence includes, for example, descriptive observations of a peculiar peak incidence at age 2-5 years for ALL in economically developed countries, clustering of cases in situations of population mixing associated with unusual patterns of personal contacts, associations with various proxy measures for immune modulatory exposures early in life, and genetic susceptibility conferred by variation in genes involved in the immune system. In this review, our focus is the extended major histocompatibility complex (xMHC, an approximately 7.6 megabase region that is well-known for its high density of expressed genes, extensive polymorphisms exhibiting complex linkage disequilibrium patterns, and its disproportionately large number of immune-related genes, including human leukocyte antigen (HLA. First discovered through the role they play in transplant rejection, the classical HLA class I (HLA-A, -B, and -C and class II (HLA-DR, HLA-DQ, and HLA-DP molecules reside at the epicenter of the immune response pathways and are now the targets of many disease susceptibility studies, including those for childhood leukemia. The genes encoding the HLA molecules are only a minority of the over 250 expressed genes in the xMHC, and a growing number of studies are beginning to evaluate other loci through targeted investigations or utilizing a mapping approach with a comprehensive screen of the entire region. Here, we review the current epidemiologic evidence available to date regarding genetic variation contained within this highly unique region of the genome and its relationship with childhood ALL risk.

Palenque de San Basilio in Colombia: genetic data support an oral history of a paternal ancestry in Congo.

Science.gov (United States)

Ansari-Pour, Naser; Moñino, Yves; Duque, Constanza; Gallego, Natalia; Bedoya, Gabriel; Thomas, Mark G; Bradman, Neil

2016-03-30

The Palenque, a black community in rural Colombia, have an oral history of fugitive African slaves founding a free village near Cartagena in the seventeenth century. Recently, linguists have identified some 200 words in regular use that originate in a Kikongo language, with Yombe, mainly spoken in the Congo region, being the most likely source. The non-recombining portion of the Y chromosome (NRY) and mitochondrial DNA were analysed to establish whether there was greater similarity between present-day members of the Palenque and Yombe than between the Palenque and 42 other African groups (for all individuals,n= 2799) from which forced slaves might have been taken. NRY data are consistent with the linguistic evidence that Yombe is the most likely group from which the original male settlers of Palenque came. Mitochondrial DNA data suggested substantial maternal sub-Saharan African ancestry and a strong founder effect but did not associate Palenque with any particular African group. In addition, based on cultural data including inhabitants' claims of linguistic differences, it has been hypothesized that the two districts of the village (Abajo and Arriba) have different origins, with Arriba founded by men originating in Congo and Abajo by those born in Colombia. Although significant genetic structuring distinguished the two from each other, no supporting evidence for this hypothesis was found. © 2016 The Author(s).

Maternal smoking during pregnancy and offspring conduct problems: Evidence from three independent genetically-sensitive research designs

Science.gov (United States)

Gaysina, Darya; Fergusson, David M.; Leve, Leslie D.; Horwood, John; Reiss, David; Shaw, Daniel S.; Elam, Kit K.; Natsuaki, Misaki N.; Neiderhiser, Jenae M.; Harold, Gordon T.

2013-01-01

Context A number of studies report an association between maternal smoking during pregnancy and offspring conduct disorder. However, past research evidences difficulty disaggregating prenatal environmental from genetic and postnatal environmental influences. Objective To examine the relationship between maternal smoking during pregnancy and offspring conduct problems among children reared by genetically-related and genetically-unrelated mothers. Design, Setting and Participants Three studies employing distinct but complementary research designs were utilized: The Christchurch Health and Development Study (a longitudinal cohort study that includes biological and adopted children), the Early Growth and Development Study (a longitudinal adoption at birth study), and the Cardiff IVF Study (genetically-related and -unrelated families; an adoption at conception study). Maternal smoking during pregnancy was measured as the average number of cigarettes/day (0, 1–9 or 10+) smoked during pregnancy. A number of possible covariates (child gender, ethnicity, birth weight, breast feeding, maternal age at birth, maternal education, family SES, family breakdown, placement age, and parenting practices) were controlled in the analyses. Main Outcome Measure Child conduct problems (age 4–10 years) reported by parents and/or teachers using the Rutter and Conners behaviour scales, the Child Behavior Checklist and Children's Behavior Questionnaire, and the Strengths and Difficulties Questionnaire. Results A significant association between maternal smoking during pregnancy and child conduct problems was observed among children reared by genetically-related and genetically-unrelated mothers. Results from a meta-analysis affirmed this pattern of findings across pooled study samples. Conclusions Findings across the three studies using a complement of genetically-sensitive research designs suggest smoking during pregnancy is a prenatal risk factor for offspring conduct problems, when

A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

Science.gov (United States)

Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

2015-01-01

Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

Coherence of evidence from systematic reviews as a basis for evidence strength - a case study in support of an epistemological proposition

Directory of Open Access Journals (Sweden)

Mickenautsch Steffen

2012-01-01

Full Text Available Abstract Background This article aims to offer, on the basis of Coherence theory, the epistemological proposition that mutually supportive evidence from multiple systematic reviews may successfully refute radical, philosophical scepticism. Methods A case study including seven systematic reviews is presented with the objective of refuting radical philosophical scepticism towards the belief that glass-ionomer cements (GIC are beneficial in tooth caries therapy. The case study illustrates how principles of logical and empirical coherence may be applied as evidence in support of specific beliefs in healthcare. Results The results show that radical scepticism may epistemologically be refuted on the basis of logical and empirical coherence. For success, several systematic reviews covering interconnected beliefs are needed. In praxis, these systematic reviews would also need to be of high quality and its conclusions based on reviewed high quality trials. Conclusions A refutation of radical philosophical scepticism to clinical evidence may be achieved, if and only if such evidence is based on the logical and empirical coherence of multiple systematic review results. Practical application also requires focus on the quality of the systematic reviews and reviewed trials.

Supporting Evidence-Informed Teaching in Biomedical and Health Professions Education Through Knowledge Translation: An Interdisciplinary Literature Review.

Science.gov (United States)

Tractenberg, Rochelle E; Gordon, Morris

2017-01-01

Phenomenon: The purpose of "systematic" reviews/reviewers of medical and health professions educational research is to identify best practices. This qualitative article explores the question of whether systematic reviews can support "evidence informed" teaching and contrasts traditional systematic reviewing with a knowledge translation (KT) approach to this objective. Degrees of freedom analysis (DOFA) is used to examine the alignment of systematic review methods with educational research and the pedagogical strategies and approaches that might be considered with a decision-making framework developed to support valid assessment. This method is also used to explore how KT can be used to inform teaching and learning. The nature of educational research is not compatible with most (11/14) methods for systematic review. The inconsistency of systematic reviewing with the nature of educational research impedes both the identification and implementation of "best-evidence" pedagogy and teaching. This is primarily because research questions that do support the purposes of review do not support educational decision making. By contrast to systematic reviews of the literature, both a DOFA and KT are fully compatible with informing teaching using evidence. A DOFA supports the translation of theory to a specific teaching or learning case, so could be considered a type of KT. The DOFA results in a test of alignment of decision options with relevant educational theory, and KT leads to interventions in teaching or learning that can be evaluated. Examples of how to structure evaluable interventions are derived from a KT approach that are simply not available from a systematic review. Insights: Systematic reviewing of current empirical educational research is not suitable for deriving or supporting best practices in education. However, both "evidence-informed" and scholarly approaches to teaching can be supported as KT projects, which are inherently evaluable and can generate

Genetic Characterization of Dog Personality Traits.

Science.gov (United States)

Ilska, Joanna; Haskell, Marie J; Blott, Sarah C; Sánchez-Molano, Enrique; Polgar, Zita; Lofgren, Sarah E; Clements, Dylan N; Wiener, Pamela

2017-06-01

The genetic architecture of behavioral traits in dogs is of great interest to owners, breeders, and professionals involved in animal welfare, as well as to scientists studying the genetics of animal (including human) behavior. The genetic component of dog behavior is supported by between-breed differences and some evidence of within-breed variation. However, it is a challenge to gather sufficiently large datasets to dissect the genetic basis of complex traits such as behavior, which are both time-consuming and logistically difficult to measure, and known to be influenced by nongenetic factors. In this study, we exploited the knowledge that owners have of their dogs to generate a large dataset of personality traits in Labrador Retrievers. While accounting for key environmental factors, we demonstrate that genetic variance can be detected for dog personality traits assessed using questionnaire data. We identified substantial genetic variance for several traits, including fetching tendency and fear of loud noises, while other traits revealed negligibly small heritabilities. Genetic correlations were also estimated between traits; however, due to fairly large SEs, only a handful of trait pairs yielded statistically significant estimates. Genomic analyses indicated that these traits are mainly polygenic, such that individual genomic regions have small effects, and suggested chromosomal associations for six of the traits. The polygenic nature of these traits is consistent with previous behavioral genetics studies in other species, for example in mouse, and confirms that large datasets are required to quantify the genetic variance and to identify the individual genes that influence behavioral traits. Copyright © 2017 by the Genetics Society of America.

Genetic evidence for natural selection in humans in the contemporary United States.

Science.gov (United States)

Beauchamp, Jonathan P

2016-07-12

Recent findings from molecular genetics now make it possible to test directly for natural selection by analyzing whether genetic variants associated with various phenotypes have been under selection. I leverage these findings to construct polygenic scores that use individuals' genotypes to predict their body mass index, educational attainment (EA), glucose concentration, height, schizophrenia, total cholesterol, and (in females) age at menarche. I then examine associations between these scores and fitness to test whether natural selection has been occurring. My study sample includes individuals of European ancestry born between 1931 and 1953 who participated in the Health and Retirement Study, a representative study of the US population. My results imply that natural selection has been slowly favoring lower EA in both females and males, and are suggestive that natural selection may have favored a higher age at menarche in females. For EA, my estimates imply a rate of selection of about -1.5 mo of education per generation (which pales in comparison with the increases in EA observed in contemporary times). Although they cannot be projected over more than one generation, my results provide additional evidence that humans are still evolving-albeit slowly, especially compared with the rapid changes that have occurred over the past few generations due to cultural and environmental factors.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

Science.gov (United States)

Zhou, Qi; Lenger, Chaeli; Smith, Richard; Kimberling, William J; Ye, Ming; Lehmann, Ordan; MacDonald, Ian

2012-01-01

To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I. Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). Single nucleotide polymorphic linkage analysis was then used to confirm another locus, and DNA was analyzed with the Usher Chip v4.0 platform. Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings. The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.

Genomic evidence for the evolution of Streptococcus equi: host restriction, increased virulence, and genetic exchange with human pathogens.

Directory of Open Access Journals (Sweden)

Matthew T G Holden

2009-03-01

Full Text Available The continued evolution of bacterial pathogens has major implications for both human and animal disease, but the exchange of genetic material between host-restricted pathogens is rarely considered. Streptococcus equi subspecies equi (S. equi is a host-restricted pathogen of horses that has evolved from the zoonotic pathogen Streptococcus equi subspecies zooepidemicus (S. zooepidemicus. These pathogens share approximately 80% genome sequence identity with the important human pathogen Streptococcus pyogenes. We sequenced and compared the genomes of S. equi 4047 and S. zooepidemicus H70 and screened S. equi and S. zooepidemicus strains from around the world to uncover evidence of the genetic events that have shaped the evolution of the S. equi genome and led to its emergence as a host-restricted pathogen. Our analysis provides evidence of functional loss due to mutation and deletion, coupled with pathogenic specialization through the acquisition of bacteriophage encoding a phospholipase A(2 toxin, and four superantigens, and an integrative conjugative element carrying a novel iron acquisition system with similarity to the high pathogenicity island of Yersinia pestis. We also highlight that S. equi, S. zooepidemicus, and S. pyogenes share a common phage pool that enhances cross-species pathogen evolution. We conclude that the complex interplay of functional loss, pathogenic specialization, and genetic exchange between S. equi, S. zooepidemicus, and S. pyogenes continues to influence the evolution of these important streptococci.

Weighing the evidence of common beliefs in obesity research

DEFF Research Database (Denmark)

Casazza, Krista; Brown, Andrew; Astrup, Arne

2015-01-01

Abstract Obesity is a topic on which many views are strongly held in the absence of scientific evidence to support those views, and some views are strongly held despite evidence to contradict those views. We refer to the former as "presumptions" and the latter as "myths". Here we present nine myths...... and ten presumptions surrounding the effects of rapid weight loss; setting realistic goals in weight loss therapy; stage of change or readiness to lose weight; physical education classes; breast-feeding; daily self-weighing; genetic contribution to obesity; the "Freshman 15"; food deserts; regularly...

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

Science.gov (United States)

Geelen, Els; Horstman, Klasien; Marcelis, Carlo L M; Doevendans, Pieter A; Van Hoyweghen, Ine

2012-10-01

Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

Developing a good practice for the review of evidence relevant to GMO risk assessment

DEFF Research Database (Denmark)

Kohl, Christian; Craig, Wendy; Frampton, Geoff

2013-01-01

such research results in a transparent, reproducible and unbiased manner. The EU-funded project GRACE (GMO Risk Assessment and Communication of Evidence) aims to explore, adapt, apply, and promote these tools to enhance accountability in decision-making by providing policy makers with comprehensive, science......-based information on potential impacts (scenarios) of genetically modified plants and their derived products. Furthermore, GRACE will establish an open-access database in order to support the review process, to mirror the evidence synthesis, to assist the dissemination of results and conclusions, as well as to act......, in more general terms, as an information resource on biosafety of genetically modified plants....

Spread of butternut canker in North America, host range, evidence of resistance within butternut populations and conservation genetics

Science.gov (United States)

M. E. Ostry; K. Woeste

2004-01-01

Butternut canker is killing trees throughout the range of butternut in North America and is threatening the viability of many populations in several areas. Although butternut is the primary host, other Juglans species and some hardwood species also are potential hosts. Evidence is building that genetic resistance within butternut populations may be...

Trichloroethylene: Mechanistic, epidemiologic and other supporting evidence of carcinogenic hazard.

Science.gov (United States)

Rusyn, Ivan; Chiu, Weihsueh A; Lash, Lawrence H; Kromhout, Hans; Hansen, Johnni; Guyton, Kathryn Z

2014-01-01

The chlorinated solvent trichloroethylene (TCE) is a ubiquitous environmental pollutant. The carcinogenic hazard of TCE was the subject of a 2012 evaluation by a Working Group of the International Agency for Research on Cancer (IARC). Information on exposures, relevant data from epidemiologic studies, bioassays in experimental animals, and toxicity and mechanism of action studies was used to conclude that TCE is carcinogenic to humans (Group 1). This article summarizes the key evidence forming the scientific bases for the IARC classification. Exposure to TCE from environmental sources (including hazardous waste sites and contaminated water) is common throughout the world. While workplace use of TCE has been declining, occupational exposures remain of concern, especially in developing countries. The strongest human evidence is from studies of occupational TCE exposure and kidney cancer. Positive, although less consistent, associations were reported for liver cancer and non-Hodgkin lymphoma. TCE is carcinogenic at multiple sites in multiple species and strains of experimental animals. The mechanistic evidence includes extensive data on the toxicokinetics and genotoxicity of TCE and its metabolites. Together, available evidence provided a cohesive database supporting the human cancer hazard of TCE, particularly in the kidney. For other target sites of carcinogenicity, mechanistic and other data were found to be more limited. Important sources of susceptibility to TCE toxicity and carcinogenicity were also reviewed by the Working Group. In all, consideration of the multiple evidence streams presented herein informed the IARC conclusions regarding the carcinogenicity of TCE. © 2013.

The genetic history of Peninsular Malaysia.

Science.gov (United States)

Norhalifah, Hanim Kamis; Syaza, Fatnin Hisham; Chambers, Geoffrey Keith; Edinur, Hisham Atan

2016-07-15

This article explores the genetic history of the various sub-populations currently living in Peninsular Malaysia. This region has received multiple waves of migrants like the Orang Asli in prehistoric times and the Chinese, Indians, Europeans and Arabs during historic times. There are three highly distinct lineages that make up the Orang Asli; Semang, Senoi and Proto-Malays. The Semang, who have 'Negrito' characteristics, represent the first human settlers in Peninsular Malaysia arriving from about 50,000ya. The Senoi later migrated from Indochina and are a mix between an Asian Neolithic population and the Semang. These Asian genomes probably came in before Austroasiatic languages arrived between 5000 and 4000years ago. Semang and Senoi both now speak Austro-Asiatic languages indicative of cultural diffusion from Senoi to Semang. In contrast, the Proto-Malays who came last to the southern part of this region speak Austronesian language and are Austronesians with some Negrito admixture. It is from this group that the contemporary Malays emerged. Here we provide an overview of the best available genetic evidences (single nucleotide polymorphisms, mitochondrial DNA, Y-chromosome, blood groups, human platelet antigen, human leukocyte antigen, human neutrophil antigen and killer-cell immunoglobulin-like receptor) supporting the complex genetic history of Peninsular Malaysia. Large scale sampling and high throughput genetic screening programmes such as those using genome-wide single nucleotide polymorphism analyses have provided insights into various ancestral and admixture genetic fractions in this region. Given the now extensive admixture present in the contemporary descendants of ancient sub-populations in Peninsular Malaysia, improved reconstruction of human migration history in this region will require new evidence from ancient DNA in well-preserved skeletons. All other aspects of the highly diverse and complex genetic makeup in Peninsular Malaysia should be

Optimizing Support Vector Machine Parameters with Genetic Algorithm for Credit Risk Assessment

Science.gov (United States)

Manurung, Jonson; Mawengkang, Herman; Zamzami, Elviawaty

2017-12-01

Support vector machine (SVM) is a popular classification method known to have strong generalization capabilities. SVM can solve the problem of classification and linear regression or nonlinear kernel which can be a learning algorithm for the ability of classification and regression. However, SVM also has a weakness that is difficult to determine the optimal parameter value. SVM calculates the best linear separator on the input feature space according to the training data. To classify data which are non-linearly separable, SVM uses kernel tricks to transform the data into a linearly separable data on a higher dimension feature space. The kernel trick using various kinds of kernel functions, such as : linear kernel, polynomial, radial base function (RBF) and sigmoid. Each function has parameters which affect the accuracy of SVM classification. To solve the problem genetic algorithms are proposed to be applied as the optimal parameter value search algorithm thus increasing the best classification accuracy on SVM. Data taken from UCI repository of machine learning database: Australian Credit Approval. The results show that the combination of SVM and genetic algorithms is effective in improving classification accuracy. Genetic algorithms has been shown to be effective in systematically finding optimal kernel parameters for SVM, instead of randomly selected kernel parameters. The best accuracy for data has been upgraded from kernel Linear: 85.12%, polynomial: 81.76%, RBF: 77.22% Sigmoid: 78.70%. However, for bigger data sizes, this method is not practical because it takes a lot of time.

Optimization of Support Structures for Offshore Wind Turbines Using Genetic Algorithm with Domain-Trimming

Directory of Open Access Journals (Sweden)

Mohammad AlHamaydeh

2017-01-01

Full Text Available The powerful genetic algorithm optimization technique is augmented with an innovative “domain-trimming” modification. The resulting adaptive, high-performance technique is called Genetic Algorithm with Domain-Trimming (GADT. As a proof of concept, the GADT is applied to a widely used benchmark problem. The 10-dimensional truss optimization benchmark problem has well documented global and local minima. The GADT is shown to outperform several published solutions. Subsequently, the GADT is deployed onto three-dimensional structural design optimization for offshore wind turbine supporting structures. The design problem involves complex least-weight topology as well as member size optimizations. The GADT is applied to two popular design alternatives: tripod and quadropod jackets. The two versions of the optimization problem are nonlinearly constrained where the objective function is the material weight of the supporting truss. The considered design variables are the truss members end node coordinates, as well as the cross-sectional areas of the truss members, whereas the constraints are the maximum stresses in members and the maximum displacements of the nodes. These constraints are managed via dynamically modified, nonstationary penalty functions. The structures are subject to gravity, wind, wave, and earthquake loading conditions. The results show that the GADT method is superior in finding best discovered optimal solutions.

Strong evidence for a genetic contribution to late-onset Alzheimer's disease mortality: a population-based study.

Directory of Open Access Journals (Sweden)

John S K Kauwe

Full Text Available Alzheimer's disease (AD is an international health concern that has a devastating effect on patients and families. While several genetic risk factors for AD have been identified much of the genetic variance in AD remains unexplained. There are limited published assessments of the familiality of Alzheimer's disease. Here we present the largest genealogy-based analysis of AD to date.We assessed the familiality of AD in The Utah Population Database (UPDB, a population-based resource linking electronic health data repositories for the state with the computerized genealogy of the Utah settlers and their descendants. We searched UPDB for significant familial clustering of AD to evaluate the genetic contribution to disease. We compared the Genealogical Index of Familiality (GIF between AD individuals and randomly selected controls and estimated the Relative Risk (RR for a range of family relationships. Finally, we identified pedigrees with a significant excess of AD deaths.The GIF analysis showed that pairs of individuals dying from AD were significantly more related than expected. This excess of relatedness was observed for both close and distant relationships. RRs for death from AD among relatives of individuals dying from AD were significantly increased for both close and more distant relatives. Multiple pedigrees had a significant excess of AD deaths.These data strongly support a genetic contribution to the observed clustering of individuals dying from AD. This report is the first large population-based assessment of the familiality of AD mortality and provides the only reported estimates of relative risk of AD mortality in extended relatives to date. The high-risk pedigrees identified show a true excess of AD mortality (not just multiple cases and are greater in depth and width than published AD pedigrees. The presence of these high-risk pedigrees strongly supports the possibility of rare predisposition variants not yet identified.

Measuring Clinical Decision Support Influence on Evidence-Based Nursing Practice.

Science.gov (United States)

Cortez, Susan; Dietrich, Mary S; Wells, Nancy

2016-07-01

To measure the effect of clinical decision support (CDS) on oncology nurse evidence-based practice (EBP).
. Longitudinal cluster-randomized design.
. Four distinctly separate oncology clinics associated with an academic medical center.
. The study sample was comprised of randomly selected data elements from the nursing documentation software. The data elements were patient-reported symptoms and the associated nurse interventions. The total sample observations were 600, derived from a baseline, posteducation, and postintervention sample of 200 each (100 in the intervention group and 100 in the control group for each sample).
. The cluster design was used to support randomization of the study intervention at the clinic level rather than the individual participant level to reduce possible diffusion of the study intervention. An elongated data collection cycle (11 weeks) controlled for temporary increases in nurse EBP related to the education or CDS intervention.
. The dependent variable was the nurse evidence-based documentation rate, calculated from the nurse-documented interventions. The independent variable was the CDS added to the nursing documentation software.
. The average EBP rate at baseline for the control and intervention groups was 27%. After education, the average EBP rate increased to 37%, and then decreased to 26% in the postintervention sample. Mixed-model linear statistical analysis revealed no significant interaction of group by sample. The CDS intervention did not result in an increase in nurse EBP.
. EBP education increased nurse EBP documentation rates significantly but only temporarily. Nurses may have used evidence in practice but may not have documented their interventions.
. More research is needed to understand the complex relationship between CDS, nursing practice, and nursing EBP intervention documentation. CDS may have a different effect on nurse EBP, physician EBP, and other medical professional EBP.

Integrating paleoecology and genetics of bird populations in two sky island archipelagos.

Science.gov (United States)

McCormack, John E; Bowen, Bonnie S; Smith, Thomas B

2008-06-27

Genetic tests of paleoecological hypotheses have been rare, partly because recent genetic divergence is difficult to detect and time. According to fossil plant data, continuous woodland in the southwestern USA and northern Mexico became fragmented during the last 10,000 years, as warming caused cool-adapted species to retreat to high elevations. Most genetic studies of resulting 'sky islands' have either failed to detect recent divergence or have found discordant evidence for ancient divergence. We test this paleoecological hypothesis for the region with intraspecific mitochondrial DNA and microsatellite data from sky-island populations of a sedentary bird, the Mexican jay (Aphelocoma ultramarina). We predicted that populations on different sky islands would share common, ancestral alleles that existed during the last glaciation, but that populations on each sky island, owing to their isolation, would contain unique variants of postglacial origin. We also predicted that divergence times estimated from corrected genetic distance and a coalescence model would post-date the last glacial maximum. Our results provide multiple independent lines of support for postglacial divergence, with the predicted pattern of shared and unique mitochondrial DNA haplotypes appearing in two independent sky-island archipelagos, and most estimates of divergence time based on corrected genetic distance post-dating the last glacial maximum. Likewise, an isolation model based on multilocus gene coalescence indicated postglacial divergence of five pairs of sky islands. In contrast to their similar recent histories, the two archipelagos had dissimilar historical patterns in that sky islands in Arizona showed evidence for older divergence, suggesting different responses to the last glaciation. This study is one of the first to provide explicit support from genetic data for a postglacial divergence scenario predicted by one of the best paleoecological records in the world. Our results

Shared genetic contribution to ischemic stroke and Alzheimer's disease

Science.gov (United States)

Adib‐Samii, Poneh; Harold, Denise; Dichgans, Martin; Williams, Julie; Lewis, Cathryn M.; Markus, Hugh S.; Fornage, Myriam; Holliday, Elizabeth G; Sharma, Pankaj; Bis, Joshua C; Psaty, Bruce M; Seshadri, Sudha; Nalls, Mike A; Devan, William J; Boncoraglio, Giorgio; Malik, Rainer; Mitchell, Braxton D; Kittner, Steven J; Ikram, M Arfan; Clarke, Robert; Rosand, Jonathan; Meschia, James F; Sudlow, Cathie; Rothwell, Peter M; Levi, Christopher; Bevan, Steve; Kilarski, Laura L; Walters, Matthew; Thijs, Vincent; Slowik, Agnieszka; Lindgren, Arne; de Bakker, Paul I W; Lambert, Jean‐Charles; Ibrahim‐Verbaas, Carla A; Harold, Denise; Naj, Adam C; Sims, Rebecca; Bellenguez, Céline; Jun, Gyungah; DeStefano, Anita L; Bis, Joshua C; Beecham, Gary W; Grenier‐Boley, Benjamin; Russo, Giancarlo; Thornton‐Wells, Tricia A; Jones, Nicola; Smith, Albert V; Chouraki, Vincent; Thomas, Charlene; Ikram, M Arfan; Zelenika, Diana; Vardarajan, Badri N; Kamatani, Yoichiro; Lin, Chiao‐Feng; Gerrish, Amy; Schmidt, Helena; Kunkle, Brian; Dunstan, Melanie L; Ruiz, Agustin; Bihoreau, Marie‐Thçrèse; Choi, Seung‐Hoan; Reitz, Christiane; Pasquier, Florence; Hollingworth, Paul; Ramirez, Alfredo; Hanon, Olivier; Fitzpatrick, Annette L; Buxbaum, Joseph D; Campion, Dominique; Crane, Paul K; Baldwin, Clinton; Becker, Tim; Gudnason, Vilmundur; Cruchaga, Carlos; Craig, David; Amin, Najaf; Berr, Claudine; Lopez, Oscar L; De Jager, Philip L; Deramecourt, Vincent; Johnston, Janet A; Evans, Denis; Lovestone, Simon; Letenneur, Luc; Morón, Francisco J; Rubinsztein, David C; Eiriksdottir, Gudny; Sleegers, Kristel; Goate, Alison M; Fiçvet, Nathalie; Huentelman, Matthew J; Gill, Michael; Brown, Kristelle; Kamboh, M Ilyas; Keller, Lina; Barberger‐Gateau, Pascale; McGuinness, Bernadette; Larson, Eric B; Green, Robert; Myers, Amanda J; Dufouil, Carole; Todd, Stephen; Wallon, David; Love, Seth; Rogaeva, Ekaterina; Gallacher, John; St George‐Hyslop, Peter; Clarimon, Jordi; Lleo, Alberto; Bayer, Anthony; Tsuang, Debby W; Yu, Lei; Tsolaki, Magda; Bossù, Paola; Spalletta, Gianfranco; Proitsi, Petroula; Collinge, John; Sorbi, Sandro; Sanchez‐Garcia, Florentino; Fox, Nick C; Hardy, John; Deniz Naranjo, Maria Candida; Bosco, Paolo; Clarke, Robert; Brayne, Carol; Galimberti, Daniela; Mancuso, Michelangelo; Matthews, Fiona; Moebus, Susanne; Mecocci, Patrizia; Del Zompo, Maria; Maier, Wolfgang; Hampel, Harald; Pilotto, Alberto; Bullido, Maria; Panza, Francesco; Caffarra, Paolo; Nacmias, Benedetta; Gilbert, John R; Mayhaus, Manuel; Lannfelt, Lars; Hakonarson, Hakon; Pichler, Sabrina; Carrasquillo, Minerva M; Ingelsson, Martin; Beekly, Duane; Alvarez, Victoria; Zou, Fanggeng; Valladares, Otto; Younkin, Steven G; Coto, Eliecer; Hamilton‐Nelson, Kara L; Gu, Wei; Razquin, Cristina; Pastor, Pau; Mateo, Ignacio; Owen, Michael J; Faber, Kelley M; Jonsson, Palmi V; Combarros, Onofre; O'Donovan, Michael C; Cantwell, Laura B; Soininen, Hilkka; Blacker, Deborah; Mead, Simon; Mosley, Thomas H; Bennett, David A; Harris, Tamara B; Fratiglioni, Laura; Holmes, Clive; de Bruijn, Renee F A G; Passmore, Peter; Montine, Thomas J; Bettens, Karolien; Rotter, Jerome I; Brice, Alexis; Morgan, Kevin; Foroud, Tatiana M; Kukull, Walter A; Hannequin, Didier; Powell, John F; Nalls, Michael A; Ritchie, Karen; Lunetta, Kathryn L; Kauwe, John S K; Boerwinkle, Eric; Riemenschneider, Matthias; Boada, Mercè; Hiltunen, Mikko; Martin, Eden R; Schmidt, Reinhold; Rujescu, Dan; Wang, Li‐San; Dartigues, Jean‐François; Mayeux, Richard; Tzourio, Christophe; Hofman, Albert; Nöthen, Markus M; Graff, Caroline; Psaty, Bruce M; Jones, Lesley; Haines, Jonathan L; Holmans, Peter A; Lathrop, Mark; Pericak‐Vance, Margaret A; Launer, Lenore J; Farrer, Lindsay A; van Duijn, Cornelia M; Van Broeckhoven, Christine; Moskvina, Valentina; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D; Amouyel, Philippe

2016-01-01

Objective Increasing evidence suggests epidemiological and pathological links between Alzheimer's disease (AD) and ischemic stroke (IS). We investigated the evidence that shared genetic factors underpin the two diseases. Methods Using genome‐wide association study (GWAS) data from METASTROKE + (15,916 IS cases and 68,826 controls) and the International Genomics of Alzheimer's Project (IGAP; 17,008 AD cases and 37,154 controls), we evaluated known associations with AD and IS. On the subset of data for which we could obtain compatible genotype‐level data (4,610 IS cases, 1,281 AD cases, and 14,320 controls), we estimated the genome‐wide genetic correlation (rG) between AD and IS, and the three subtypes (cardioembolic, small vessel, and large vessel), using genome‐wide single‐nucleotide polymorphism (SNP) data. We then performed a meta‐analysis and pathway analysis in the combined AD and small vessel stroke data sets to identify the SNPs and molecular pathways through which disease risk may be conferred. Results We found evidence of a shared genetic contribution between AD and small vessel stroke (rG [standard error] = 0.37 [0.17]; p = 0.011). Conversely, there was no evidence to support shared genetic factors in AD and IS overall or with the other stroke subtypes. Of the known GWAS associations with IS or AD, none reached significance for association with the other trait (or stroke subtypes). A meta‐analysis of AD IGAP and METASTROKE + small vessel stroke GWAS data highlighted a region (ATP5H/KCTD2/ICT1) associated with both diseases (p = 1.8 × 10−8). A pathway analysis identified four associated pathways involving cholesterol transport and immune response. Interpretation Our findings indicate shared genetic susceptibility to AD and small vessel stroke and highlight potential causal pathways and loci. Ann Neurol 2016;79:739–747 PMID:26913989

Verification of consumers' experiences and perceptions of genetic discrimination and its impact on utilization of genetic testing.

Science.gov (United States)

Barlow-Stewart, Kristine; Taylor, Sandra D; Treloar, Susan A; Stranger, Mark; Otlowski, Margaret

2009-03-01

To undertake a systematic process of verification of consumer accounts of alleged genetic discrimination. Verification of incidents reported in life insurance and other contexts that met the criteria of genetic discrimination, and the impact of fear of such treatment, was determined, with consent, through interview, document analysis and where appropriate, direct contact with the third party involved. The process comprised obtaining evidence that the alleged incident was accurately reported and determining whether the decision or action seemed to be justifiable and/or ethical. Reported incidents of genetic discrimination were verified in life insurance access, underwriting and coercion (9), applications for worker's compensation (1) and early release from prison (1) and in two cases of fear of discrimination impacting on access to genetic testing. Relevant conditions were inherited cancer susceptibility (8), Huntington disease (3), hereditary hemochromatosis (1), and polycystic kidney disease (1). In two cases, the reversal of an adverse underwriting decision to standard rate after intervention with insurers by genetics health professionals was verified. The mismatch between consumer and third party accounts in three life insurance incidents involved miscommunication or lack of information provision by financial advisers. These first cases of verified genetic discrimination make it essential for policies and guidelines to be developed and implemented to ensure appropriate use of genetic test results in insurance underwriting, to promote education and training in the financial industry, and to provide support for consumers and health professionals undertaking challenges of adverse decisions.

Extremely low genetic variation in endangered Tatra chamois and evidence for hybridization with an introduced Alpine population

Czech Academy of Sciences Publication Activity Database

Zemanová, Barbora; Hájková, Petra; Hájek, B.; Martínková, Natália; Mikulíček, Peter; Zima, Jan; Bryja, Josef

2015-01-01

Roč. 16, č. 3 (2015), s. 729-741 ISSN 1566-0621 R&D Projects: GA AV ČR IAA600930609 Institutional support: RVO:68081766 Keywords : Rupicapra rupicapra tatrica * Ungulate * Non-invasive genetic sampling * Bottleneck * Inbreeding * Hybrid detection Subject RIV: EG - Zoology Impact factor: 2.040, year: 2015

Evidence-informed health policy 1 – Synthesis of findings from a multi-method study of organizations that support the use of research evidence

Directory of Open Access Journals (Sweden)

Moynihan Ray

2008-12-01

Full Text Available Abstract Background Organizations have been established in many countries and internationally to support the use of research evidence by producing clinical practice guidelines, undertaking health technology assessments, and/or directly supporting the use of research evidence in developing health policy on an international, national, and state or provincial level. Learning from these organizations can reduce the need to 'reinvent the wheel' and inform decisions about how best to organize support for such organizations, particularly in low- and middle-income countries (LMICs. Methods We undertook a multi-method study in three phases – a survey, interviews, and case descriptions that drew on site visits – and in each of the second and third phases we focused on a purposive sample of those involved in the previous phase. We used the seven main recommendations that emerged from the advice offered in the interviews to organize much of the synthesis of findings across phases and methods. We used a constant comparative method to identify themes from across phases and methods. Results Seven recommendations emerged for those involved in establishing or leading organizations that support the use of research evidence in developing health policy: 1 collaborate with other organizations; 2 establish strong links with policymakers and involve stakeholders in the work; 3 be independent and manage conflicts of interest among those involved in the work; 4 build capacity among those working in the organization; 5 use good methods and be transparent in the work; 6 start small, have a clear audience and scope, and address important questions; and 7 be attentive to implementation considerations, even if implementation is not a remit. Four recommendations emerged for the World Health Organization (WHO and other international organizations and networks: 1 support collaborations among organizations; 2 support local adaptation efforts; 3 mobilize support; and 4 create

Genetic structure and bio-climatic modeling support allopatric over parapatric speciation along a latitudinal gradient.

Science.gov (United States)

Rossetto, Maurizio; Allen, Chris B; Thurlby, Katie A G; Weston, Peter H; Milner, Melita L

2012-08-20

Four of the five species of Telopea (Proteaceae) are distributed in a latitudinal replacement pattern on the south-eastern Australian mainland. In similar circumstances, a simple allopatric speciation model that identifies the origins of genetic isolation within temporal geographic separation is considered as the default model. However, secondary contact between differentiated lineages can result in similar distributional patterns to those arising from a process of parapatric speciation (where gene flow between lineages remains uninterrupted during differentiation). Our aim was to use the characteristic distributional patterns in Telopea to test whether it reflected the evolutionary models of allopatric or parapatric speciation. Using a combination of genetic evidence and environmental niche modelling, we focused on three main questions: do currently described geographic borders coincide with genetic and environmental boundaries; are there hybrid zones in areas of secondary contact between closely related species; did species distributions contract during the last glacial maximum resulting in distributional gaps even where overlap and hybridisation currently occur? Total genomic DNA was extracted from 619 individuals sampled from 36 populations representing the four species. Seven nuclear microsatellites (nSSR) and six chloroplast microsatellites (cpSSR) were amplified across all populations. Genetic structure and the signature of admixture in overlap zones was described using the Bayesian clustering methods implemented in STUCTURE and NewHybrids respectively. Relationships between chlorotypes were reconstructed as a median-joining network. Environmental niche models were produced for all species using environmental parameters from both the present day and the last glacial maximum (LGM).The nSSR loci amplified a total of 154 alleles, while data for the cpSSR loci produced a network of six chlorotypes. STRUCTURE revealed an optimum number of five clusters

Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

NARCIS (Netherlands)

Ference, Brian A.; Ginsberg, Henry N.; Graham, Ian; Ray, Kausik K.; Packard, Chris J.; Bruckert, Eric; Hegele, Robert A.; Krauss, Ronald M.; Raal, Frederick J.; Schunkert, Heribert; Watts, Gerald F.; Boren, Jan; Fazio, Sergio; Horton, Jay D.; Masana, Luis; Nicholls, Stephen J.; Nordestgaard, Borge G.; van de Sluis, Bart; Taskinen, Marja-Riitta; Tokgozoglu, Lale; Landmesser, Ulf; Laufs, Ulrich; Wiklund, Olov; Stock, Jane K.; Chapman, M. John; Catapano, Alberico L.

2017-01-01

Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from

Genetic diversity of a Daugava basin brown trout (Salmo trutta brood stock

Directory of Open Access Journals (Sweden)

Schmidt Thomas

2017-01-01

Full Text Available Genetics play an increasingly important role in the conservation of threatened fish populations. We have examined twelve microsatellite markers to determine the genetic diversity of a brood stock of brown trout from the Latvian Daugava river basin, used in a local supportive breeding program and compared diversity values to other Baltic populations. Allelic data was further inspected for indications of increased inbreeding. Additionally, we have analyzed the mitochondrial control region to classify the population within a broader phylogenetic framework. We found that the genetic diversity was comparatively low, but there was no strong evidence of high inbreeding. A newly detected mitochondrial haplotype indicates unnoticed genetic diversity of “Atlantic lineage” brown trout in the Daugava basin region. Our study provides first genetic details on resident brown trout from the Baltic Daugava river basin to improve the regional conservation management of this valuable genetic resource and contributes phylogeographically useful information.

What supports do health system organizations have in place to facilitate evidence-informed decision-making? A qualitative study.

Science.gov (United States)

Ellen, Moriah E; Léon, Gregory; Bouchard, Gisèle; Lavis, John N; Ouimet, Mathieu; Grimshaw, Jeremy M

2013-08-06

Decisions regarding health systems are sometimes made without the input of timely and reliable evidence, leading to less than optimal health outcomes. Healthcare organizations can implement tools and infrastructures to support the use of research evidence to inform decision-making. The purpose of this study was to profile the supports and instruments (i.e., programs, interventions, instruments or tools) that healthcare organizations currently have in place and which ones were perceived to facilitate evidence-informed decision-making. In-depth semi-structured telephone interviews were conducted with individuals in three different types of positions (i.e., a senior management team member, a library manager, and a 'knowledge broker') in three types of healthcare organizations (i.e., regional health authorities, hospitals and primary care practices) in two Canadian provinces (i.e., Ontario and Quebec). The interviews were taped, transcribed, and then analyzed thematically using NVivo 9 qualitative data analysis software. A total of 57 interviews were conducted in 25 organizations in Ontario and Quebec. The main findings suggest that, for the healthcare organizations that participated in this study, the following supports facilitate evidence-informed decision-making: facilitating roles that actively promote research use within the organization; establishing ties to researchers and opinion leaders outside the organization; a technical infrastructure that provides access to research evidence, such as databases; and provision and participation in training programs to enhance staff's capacity building. This study identified the need for having a receptive climate, which laid the foundation for the implementation of other tangible initiatives and supported the use of research in decision-making. This study adds to the literature on organizational efforts that can increase the use of research evidence in decision-making. Some of the identified supports may increase the use of

Adaptive divergence despite strong genetic drift: genomic analysis of the evolutionary mechanisms causing genetic differentiation in the island fox (Urocyon littoralis)

Science.gov (United States)

FUNK, W. CHRIS; LOVICH, ROBERT E.; HOHENLOHE, PAUL A.; HOFMAN, COURTNEY A.; MORRISON, SCOTT A.; SILLETT, T. SCOTT; GHALAMBOR, CAMERON K.; MALDONADO, JESUS E.; RICK, TORBEN C.; DAY, MITCH D.; POLATO, NICHOLAS R.; FITZPATRICK, SARAH W.; COONAN, TIMOTHY J.; CROOKS, KEVIN R.; DILLON, ADAM; GARCELON, DAVID K.; KING, JULIE L.; BOSER, CHRISTINA L.; GOULD, NICHOLAS; ANDELT, WILLIAM F.

2016-01-01

The evolutionary mechanisms generating the tremendous biodiversity of islands have long fascinated evolutionary biologists. Genetic drift and divergent selection are predicted to be strong on islands and both could drive population divergence and speciation. Alternatively, strong genetic drift may preclude adaptation. We conducted a genomic analysis to test the roles of genetic drift and divergent selection in causing genetic differentiation among populations of the island fox (Urocyon littoralis). This species consists of 6 subspecies, each of which occupies a different California Channel Island. Analysis of 5293 SNP loci generated using Restriction-site Associated DNA (RAD) sequencing found support for genetic drift as the dominant evolutionary mechanism driving population divergence among island fox populations. In particular, populations had exceptionally low genetic variation, small Ne (range = 2.1–89.7; median = 19.4), and significant genetic signatures of bottlenecks. Moreover, islands with the lowest genetic variation (and, by inference, the strongest historical genetic drift) were most genetically differentiated from mainland gray foxes, and vice versa, indicating genetic drift drives genome-wide divergence. Nonetheless, outlier tests identified 3.6–6.6% of loci as high FST outliers, suggesting that despite strong genetic drift, divergent selection contributes to population divergence. Patterns of similarity among populations based on high FST outliers mirrored patterns based on morphology, providing additional evidence that outliers reflect adaptive divergence. Extremely low genetic variation and small Ne in some island fox populations, particularly on San Nicolas Island, suggest that they may be vulnerable to fixation of deleterious alleles, decreased fitness, and reduced adaptive potential. PMID:26992010

Adaptive divergence despite strong genetic drift: genomic analysis of the evolutionary mechanisms causing genetic differentiation in the island fox (Urocyon littoralis).

Science.gov (United States)

Funk, W Chris; Lovich, Robert E; Hohenlohe, Paul A; Hofman, Courtney A; Morrison, Scott A; Sillett, T Scott; Ghalambor, Cameron K; Maldonado, Jesus E; Rick, Torben C; Day, Mitch D; Polato, Nicholas R; Fitzpatrick, Sarah W; Coonan, Timothy J; Crooks, Kevin R; Dillon, Adam; Garcelon, David K; King, Julie L; Boser, Christina L; Gould, Nicholas; Andelt, William F

2016-05-01

The evolutionary mechanisms generating the tremendous biodiversity of islands have long fascinated evolutionary biologists. Genetic drift and divergent selection are predicted to be strong on islands and both could drive population divergence and speciation. Alternatively, strong genetic drift may preclude adaptation. We conducted a genomic analysis to test the roles of genetic drift and divergent selection in causing genetic differentiation among populations of the island fox (Urocyon littoralis). This species consists of six subspecies, each of which occupies a different California Channel Island. Analysis of 5293 SNP loci generated using Restriction-site Associated DNA (RAD) sequencing found support for genetic drift as the dominant evolutionary mechanism driving population divergence among island fox populations. In particular, populations had exceptionally low genetic variation, small Ne (range = 2.1-89.7; median = 19.4), and significant genetic signatures of bottlenecks. Moreover, islands with the lowest genetic variation (and, by inference, the strongest historical genetic drift) were most genetically differentiated from mainland grey foxes, and vice versa, indicating genetic drift drives genome-wide divergence. Nonetheless, outlier tests identified 3.6-6.6% of loci as high FST outliers, suggesting that despite strong genetic drift, divergent selection contributes to population divergence. Patterns of similarity among populations based on high FST outliers mirrored patterns based on morphology, providing additional evidence that outliers reflect adaptive divergence. Extremely low genetic variation and small Ne in some island fox populations, particularly on San Nicolas Island, suggest that they may be vulnerable to fixation of deleterious alleles, decreased fitness and reduced adaptive potential. © 2016 John Wiley & Sons Ltd.

Genetic basis of type 2 diabetes mellitus: implications for therapy

DEFF Research Database (Denmark)

Wolford, Johanna K; de Courten, Barbora

2004-01-01

influenced by the relatively recent changes in diet and physical activity levels. There is also strong evidence supporting a genetic component to type 2 diabetes susceptibility and several genes underlying monogenic forms of diabetes have already been identified. However, common type 2 diabetes is likely...... and in the responsiveness to pharmacologic therapies, identification and characterization of the genetic variants underlying type 2 diabetes susceptibility will be important in the development of individualized treatment. Findings from linkage analyses, candidate gene studies, and animal models will be valuable...... in the identification of novel pathways involved in the regulation of glucose homeostasis, and will augment our understanding of the gene-gene and gene-environment interactions, which impact on type 2 diabetes etiology and pathogenesis. In addition, identification of genetic variants that determine differences...

Studies on the Pathophysiology and Genetic Basis of Migraine

Science.gov (United States)

Gasparini, Claudia F; Sutherland, Heidi G.; Griffiths, Lyn R

2013-01-01

Migraine is a neurological disorder that affects the central nervous system causing painful attacks of headache. A genetic vulnerability and exposure to environmental triggers can influence the migraine phenotype. Migraine interferes in many facets of people’s daily life including employment commitments and their ability to look after their families resulting in a reduced quality of life. Identification of the biological processes that underlie this relatively common affliction has been difficult because migraine does not have any clearly identifiable pathology or structural lesion detectable by current medical technology. Theories to explain the symptoms of migraine have focused on the physiological mechanisms involved in the various phases of headache and include the vascular and neurogenic theories. In relation to migraine pathophysiology the trigeminovascular system and cortical spreading depression have also been implicated with supporting evidence from imaging studies and animal models. The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies. PMID:24403849

Democratic Values and Support for Militancy: Evidence from a National Survey of Pakistan

Science.gov (United States)

2011-06-14

our survey provides prima facie evidence that this technique reduced respondents’ concerns about reporting sensitive information.18 That the...the empirical underpinnings of popular support for militancy, researchers have a duty to minimize risk to all survey participants and enumerators

Genetic Variance in Homophobia: Evidence from Self- and Peer Reports.

Science.gov (United States)

Zapko-Willmes, Alexandra; Kandler, Christian

2018-01-01

The present twin study combined self- and peer assessments of twins' general homophobia targeting gay men in order to replicate previous behavior genetic findings across different rater perspectives and to disentangle self-rater-specific variance from common variance in self- and peer-reported homophobia (i.e., rater-consistent variance). We hypothesized rater-consistent variance in homophobia to be attributable to genetic and nonshared environmental effects, and self-rater-specific variance to be partially accounted for by genetic influences. A sample of 869 twins and 1329 peer raters completed a seven item scale containing cognitive, affective, and discriminatory homophobic tendencies. After correction for age and sex differences, we found most of the genetic contributions (62%) and significant nonshared environmental contributions (16%) to individual differences in self-reports on homophobia to be also reflected in peer-reported homophobia. A significant genetic component, however, was self-report-specific (38%), suggesting that self-assessments alone produce inflated heritability estimates to some degree. Different explanations are discussed.

Automatic evidence quality prediction to support evidence-based decision making.

Science.gov (United States)

Sarker, Abeed; Mollá, Diego; Paris, Cécile

2015-06-01

Evidence-based medicine practice requires practitioners to obtain the best available medical evidence, and appraise the quality of the evidence when making clinical decisions. Primarily due to the plethora of electronically available data from the medical literature, the manual appraisal of the quality of evidence is a time-consuming process. We present a fully automatic approach for predicting the quality of medical evidence in order to aid practitioners at point-of-care. Our approach extracts relevant information from medical article abstracts and utilises data from a specialised corpus to apply supervised machine learning for the prediction of the quality grades. Following an in-depth analysis of the usefulness of features (e.g., publication types of articles), they are extracted from the text via rule-based approaches and from the meta-data associated with the articles, and then applied in the supervised classification model. We propose the use of a highly scalable and portable approach using a sequence of high precision classifiers, and introduce a simple evaluation metric called average error distance (AED) that simplifies the comparison of systems. We also perform elaborate human evaluations to compare the performance of our system against human judgments. We test and evaluate our approaches on a publicly available, specialised, annotated corpus containing 1132 evidence-based recommendations. Our rule-based approach performs exceptionally well at the automatic extraction of publication types of articles, with F-scores of up to 0.99 for high-quality publication types. For evidence quality classification, our approach obtains an accuracy of 63.84% and an AED of 0.271. The human evaluations show that the performance of our system, in terms of AED and accuracy, is comparable to the performance of humans on the same data. The experiments suggest that our structured text classification framework achieves evaluation results comparable to those of human performance

Supporting Better Evidence Generation and Use within Social Innovation in Health in Low- and Middle-Income Countries: A Qualitative Study.

Science.gov (United States)

Ballard, Madeleine; Tran, Jenny; Hersch, Fred; Lockwood, Amy; Hartigan, Pamela; Montgomery, Paul

2017-01-01

While several papers have highlighted a lack of evidence to scale social innovations in health, fewer have explored decision-maker understandings of the relative merit of different types of evidence, how such data are interpreted and applied, and what practical support is required to improve evidence generation. The objectives of this paper are to understand (1) beliefs and attitudes towards the value of and types of evidence in scaling social innovations for health, (2) approaches to evidence generation and evaluation used in systems and policy change, and (3) how better evidence-generation can be undertaken and supported within social innovation in health. Thirty-two one-on-one interviews were conducted between July and November 2015 with purposively selected practitioners, policymakers, and funders from low- and middle- income countries (LMICs). Data were analysed using a Framework Analysis Approach. While practitioners, funders, and policymakers said they held outcome evidence in high regard, their practices only bear out this assertion to varying degrees. Few have given systematic consideration to potential unintended consequences, in particular harm, of the programs they implement, fund, or adopt. Stakeholders suggest that better evidence-generation can be undertaken and supported within social innovation in health by supporting the research efforts of emerging community organizations; creating links between practitioners and academia; altering the funding landscape for evidence-generation; providing responsive technical education; and creating accountability for funders, practitioners, and policymakers. How better evidence-generation can be undertaken and supported within social innovation in health is a previously under-operationalised aspect of the policy-making process that remains essential in order to refrain from causing harm, enable the optimization of existing interventions, and ultimately, to scale and fund what works.

Evidence-informed health policy 4 – Case descriptions of organizations that support the use of research evidence

Directory of Open Access Journals (Sweden)

Oxman Andrew D

2008-12-01

Full Text Available Abstract Background Previous efforts to produce case descriptions have typically not focused on the organizations that produce research evidence and support its use. External evaluations of such organizations have typically not been analyzed as a group to identify the lessons that have emerged across multiple evaluations. Case descriptions offer the potential for capturing the views and experiences of many individuals who are familiar with an organization, including staff, advocates, and critics. Methods We purposively sampled a subgroup of organizations from among those that participated in the second (interview phase of the study and (once from among other organizations with which we were familiar. We developed and pilot-tested a case description data collection protocol, and conducted site visits that included both interviews and documentary analyses. Themes were identified from among responses to semi-structured questions using a constant comparative method of analysis. We produced both a brief (one to two pages written description and a video documentary for each case. Results We conducted 51 interviews as part of the eight site visits. Two organizational strengths were repeatedly cited by individuals participating in the site visits: use of an evidence-based approach (which was identified as being very time-consuming and existence of a strong relationship between researchers and policymakers (which can be challenged by conflicts of interest. Two organizational weaknesses – a lack of resources and the presence of conflicts of interest – were repeatedly cited by individuals participating in the site visits. Participants offered two main suggestions for the World Health Organization (and other international organizations and networks: 1 mobilize one or more of government support, financial resources, and the participation of both policymakers and researchers; and 2 create knowledge-related global public goods. Conclusion The findings from

Clonality, genetic diversity and support for the diversifying selection hypothesis in natural populations of a flower-living yeast.

Science.gov (United States)

Herrera, C M; Pozo, M I; Bazaga, P

2011-11-01

Vast amounts of effort have been devoted to investigate patterns of genetic diversity and structuring in plants and animals, but similar information is scarce for organisms of other kingdoms. The study of the genetic structure of natural populations of wild yeasts can provide insights into the ecological and genetic correlates of clonality, and into the generality of recent hypotheses postulating that microbial populations lack the potential for genetic divergence and allopatric speciation. Ninety-one isolates of the flower-living yeast Metschnikowia gruessii from southeastern Spain were DNA fingerprinted using amplified fragment length polymorphism (AFLP) markers. Genetic diversity and structuring was investigated with band-based methods and model- and nonmodel-based clustering. Linkage disequilibrium tests were used to assess reproduction mode. Microsite-dependent, diversifying selection was tested by comparing genetic characteristics of isolates from bumble bee vectors and different floral microsites. AFLP polymorphism (91%) and genotypic diversity were very high. Genetic diversity was spatially structured, as shown by amova (Φ(st)  = 0.155) and clustering. The null hypothesis of random mating was rejected, clonality seeming the prevailing reproductive mode in the populations studied. Genetic diversity of isolates declined from bumble bee mouthparts to floral microsites, and frequency of five AFLP markers varied significantly across floral microsites, thus supporting the hypothesis of diversifying selection on clonal lineages. Wild populations of clonal fungal microbes can exhibit levels of genetic diversity and spatial structuring that are not singularly different from those shown by sexually reproducing plants or animals. Microsite-dependent, divergent selection can maintain high local and regional genetic diversity in microbial populations despite extensive clonality. © 2011 Blackwell Publishing Ltd.

Genetic evidence for function of the bHLH-PAS protein Gce/Met as a juvenile hormone receptor

Czech Academy of Sciences Publication Activity Database

Jindra, Marek; Uhlířová, M.; Charles, J.-P.; Smýkal, V.; Hill, R. J.

2015-01-01

Roč. 11, č. 7 (2015), e1005394 ISSN 1553-7404 Grant - others:Marie Curie International Outgoing Fellowship Award(CZ) 276569 Institutional support: RVO:60077344 Keywords : juvenile hormone Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.661, year: 2015 http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005394

Domestication and Genetics of Papaya: A Review

Directory of Open Access Journals (Sweden)

Mariana Chávez-Pesqueira

2017-12-01

Full Text Available A wealth of plant species used by humans for different purposes, but mainly as food, originated and domesticated in the Mesoamerican region. Papaya (Carica papaya is the third most cultivated tropical crop worldwide, and it has been hypothesized that Mesoamerica is the most likely center of its origin and domestication. In support of it, many wild populations of papaya occur throughout Mesoamerica and hence represent the gene pool of genetic variability for further evolution and future crop management. Despite its importance, a dearth of information exists regarding the status of wild populations of papaya, as compared to the extent of knowledge, and interest, on domesticated varieties. We review the evidence on the extant wild populations of papaya, as well as its origin and distribution. Also, we synthetize what is known on the domestication history of the species, including the domestication syndrome that distinguishes wild and domesticated papayas. Moreover, we make an account of the use of genetic markers to assess genetic diversity of wild and domesticated papaya, and discuss the importance of papaya as the first species with a transgenic cultivar to be released for human consumption, and one that has its complete genome sequenced. Evidence from different disciplines strongly suggest that papaya originated and was domesticated in Mesoamerica, and that wild populations in the region possess, still, high genetic diversity compared to the domesticated papaya. Finally, we outline papaya as an excellent model species for genomic studies that will help gain insight into the domestication process and improvement of papaya and other tropical crops.

Factors influencing U.S. consumer support for genetic modification to prevent crop disease.

Science.gov (United States)

McComas, Katherine A; Besley, John C; Steinhardt, Joseph

2014-07-01

This study examines support for the genetic modification (GM) of crops in the context of preventing "late blight," a devastating potato and tomato disease that caused the Irish Potato Famine in the 1850s and results in substantial crop loss today. We surveyed U.S. adults who do the primary grocery shopping in their household (n = 859). Half of the respondents were randomly assigned to read a vignette describing late blight before responding to questions about GM, whereas the other half read a vignette about generic crop disease before responding to questions. We also examine how the perceived fairness of decision makers relates to GM support and the perceived legitimacy of GM decision making. We found that disease specificity mattered less to support and legitimacy than the perceived fairness of decision makers. The perceived risks of GM to human and environmental health negatively related to GM support and legitimacy, whereas the perceived benefits (e.g. reduced threats to crops and a more secure food supply) positively related to support and legitimacy. Objective knowledge about GM had a small, negative relationship with legitimacy whereas self-assessed familiarity with GM had a positive relationship. Overall, the results offer additional confirmation of past findings from more localized settings that perceived fairness of decision makers matters to support for GM and underscore the importance of considering how risk managers' behaviors and actions are perceived alongside individuals' perceptions about the risks and benefits. Copyright © 2014 Elsevier Ltd. All rights reserved.

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

Directory of Open Access Journals (Sweden)

Isabelle Schrauwen

Full Text Available Necrotizing meningoencephalitis (NME affects toy and small breed dogs causing progressive, often fatal, inflammation and necrosis in the brain. Genetic risk loci for NME previously were identified in pug dogs, particularly associated with the dog leukocyte antigen (DLA class II complex on chromosome 12, but have not been investigated in other susceptible breeds. We sought to evaluate Maltese and Chihuahua dogs, in addition to pug dogs, to identify novel or shared genetic risk factors for NME development. Genome-wide association testing of single nucleotide polymorphisms (SNPs in Maltese dogs with NME identified 2 regions of genome-wide significance on chromosomes 4 (chr4:74522353T>A, p = 8.1×10-7 and 15 (chr15:53338796A>G, p = 1.5×10-7. Haplotype analysis and fine-mapping suggests that ILR7 and FBXW7, respectively, both important for regulation of immune system function, could be the underlying associated genes. Further evaluation of these regions and the previously identified DLA II locus across all three breeds, revealed an enrichment of nominal significant SNPs associated with chromosome 15 in pug dogs and DLA II in Maltese and Chihuahua dogs. Meta-analysis confirmed effect sizes the same direction in all three breeds for both the chromosome 15 and DLA II loci (p = 8.6×10-11 and p = 2.5×10-7, respectively. This suggests a shared genetic background exists between all breeds and confers susceptibility to NME, but effect sizes might be different among breeds. In conclusion, we identified the first genetic risk factors for NME development in the Maltese, chromosome 4 and chromosome 15, and provide evidence for a shared genetic risk between breeds associated with chromosome 15 and DLA II. Last, DLA II and IL7R both have been implicated in human inflammatory diseases of the central nervous system such as multiple sclerosis, suggesting that similar pharmacotherapeutic targets across species should be investigated.

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

Science.gov (United States)

Schrauwen, Isabelle; Barber, Renee M; Schatzberg, Scott J; Siniard, Ashley L; Corneveaux, Jason J; Porter, Brian F; Vernau, Karen M; Keesler, Rebekah I; Matiasek, Kaspar; Flegel, Thomas; Miller, Andrew D; Southard, Teresa; Mariani, Christopher L; Johnson, Gayle C; Huentelman, Matthew J

2014-01-01

Necrotizing meningoencephalitis (NME) affects toy and small breed dogs causing progressive, often fatal, inflammation and necrosis in the brain. Genetic risk loci for NME previously were identified in pug dogs, particularly associated with the dog leukocyte antigen (DLA) class II complex on chromosome 12, but have not been investigated in other susceptible breeds. We sought to evaluate Maltese and Chihuahua dogs, in addition to pug dogs, to identify novel or shared genetic risk factors for NME development. Genome-wide association testing of single nucleotide polymorphisms (SNPs) in Maltese dogs with NME identified 2 regions of genome-wide significance on chromosomes 4 (chr4:74522353T>A, p = 8.1×10-7) and 15 (chr15:53338796A>G, p = 1.5×10-7). Haplotype analysis and fine-mapping suggests that ILR7 and FBXW7, respectively, both important for regulation of immune system function, could be the underlying associated genes. Further evaluation of these regions and the previously identified DLA II locus across all three breeds, revealed an enrichment of nominal significant SNPs associated with chromosome 15 in pug dogs and DLA II in Maltese and Chihuahua dogs. Meta-analysis confirmed effect sizes the same direction in all three breeds for both the chromosome 15 and DLA II loci (p = 8.6×10-11 and p = 2.5×10-7, respectively). This suggests a shared genetic background exists between all breeds and confers susceptibility to NME, but effect sizes might be different among breeds. In conclusion, we identified the first genetic risk factors for NME development in the Maltese, chromosome 4 and chromosome 15, and provide evidence for a shared genetic risk between breeds associated with chromosome 15 and DLA II. Last, DLA II and IL7R both have been implicated in human inflammatory diseases of the central nervous system such as multiple sclerosis, suggesting that similar pharmacotherapeutic targets across species should be investigated.

Genetic susceptibility and neurotransmitters in Tourette syndrome.

Science.gov (United States)

Paschou, Peristera; Fernandez, Thomas V; Sharp, Frank; Heiman, Gary A; Hoekstra, Pieter J

2013-01-01

Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the etiology of TS. Whereas early segregation studies of TS suggested a single-gene autosomal dominant disorder, later studies have pointed to more complex models including additive and multifactorial inheritance and likely interaction with genetic factors. While the exact cellular and molecular base of TS is as yet elusive, neuroanatomical and neurophysiological studies have pointed to the involvement of cortico-striato-thalamocortical circuits and abnormalities in dopamine, glutamate, gamma-aminobutyric acid, and serotonin neurotransmitter systems, with the most consistent evidence being available for involvement of dopamine-related abnormalities, that is, a reduction in tonic extracellular dopamine levels along with hyperresponsive spike-dependent dopamine release, following stimulation. Genetic and gene expression findings are very much supportive of involvement of these neurotransmitter systems. Moreover, intriguingly, genetic work on a two-generation pedigree has opened new research pointing to a role for histamine, a so far rather neglected neurotransmitter, with the potential of the development of new treatment options. Future studies should be aimed at directly linking neurotransmitter-related genetic and gene expression findings to imaging studies (imaging genetics), which enables a better understanding of the pathways and mechanisms through which the dynamic interplay of genes, brain, and environment shapes the TS phenotype. © 2013 Elsevier Inc. All rights reserved.

Supporting Better Evidence Generation and Use within Social Innovation in Health in Low- and Middle-Income Countries: A Qualitative Study.

Directory of Open Access Journals (Sweden)

Madeleine Ballard

Full Text Available While several papers have highlighted a lack of evidence to scale social innovations in health, fewer have explored decision-maker understandings of the relative merit of different types of evidence, how such data are interpreted and applied, and what practical support is required to improve evidence generation. The objectives of this paper are to understand (1 beliefs and attitudes towards the value of and types of evidence in scaling social innovations for health, (2 approaches to evidence generation and evaluation used in systems and policy change, and (3 how better evidence-generation can be undertaken and supported within social innovation in health.Thirty-two one-on-one interviews were conducted between July and November 2015 with purposively selected practitioners, policymakers, and funders from low- and middle- income countries (LMICs. Data were analysed using a Framework Analysis Approach.While practitioners, funders, and policymakers said they held outcome evidence in high regard, their practices only bear out this assertion to varying degrees. Few have given systematic consideration to potential unintended consequences, in particular harm, of the programs they implement, fund, or adopt. Stakeholders suggest that better evidence-generation can be undertaken and supported within social innovation in health by supporting the research efforts of emerging community organizations; creating links between practitioners and academia; altering the funding landscape for evidence-generation; providing responsive technical education; and creating accountability for funders, practitioners, and policymakers.How better evidence-generation can be undertaken and supported within social innovation in health is a previously under-operationalised aspect of the policy-making process that remains essential in order to refrain from causing harm, enable the optimization of existing interventions, and ultimately, to scale and fund what works.

Integrating social science and behavioral genetics: testing the origin of socioeconomic disparities in depression using a genetically informed design.

Science.gov (United States)

Mezuk, Briana; Myers, John M; Kendler, Kenneth S

2013-10-01

We tested 3 hypotheses-social causation, social drift, and common cause-regarding the origin of socioeconomic disparities in major depression and determined whether the relationship between socioeconomic status (SES) and major depression varied by genetic liability for major depression. Data were from a sample of female twins in the baseline Virginia Adult Twin Study of Psychiatric and Substance Use Disorders interviewed between 1987 and 1989 (n = 2153). We used logistic regression and structural equation twin models to evaluate these 3 hypotheses. Consistent with the social causation hypothesis, education (odds ratio [OR] = 0.78; 95% confidence interval [CI] = 0.66, 0.93; P social mobility was associated with lower risk of depression. There was no evidence that childhood SES was related to development of major depression (OR = 0.98; 95% CI = 0.89, 1.09; P > .1). Consistent with a common genetic cause, there was a negative correlation between the genetic components of major depression and education (r(2) = -0.22). Co-twin control analyses indicated a protective effect of education and income on major depression even after accounting for genetic liability. This study utilized a genetically informed design to address how social position relates to major depression. Results generally supported the social causation model.

Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

Science.gov (United States)

Rabino, Isaac

2003-01-01

Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

Is There Evidence to Support a Forefoot Strike Pattern in Barefoot Runners? A Review

OpenAIRE

Lorenz, Daniel S.; Pontillo, Marisa

2012-01-01

Context: Barefoot running is a trend among running enthusiasts that is the subject of much controversy. At this time, benefits appear to be more speculative and anecdotal than evidence based. Additionally, the risk of injuries is not well established. Evidence acquisition: A PubMed search was undertaken for articles published in English from 1980 to 2011. Additional references were accrued from reference lists of research articles. Results: While minimal data exist that definitively support b...

Vantage Sensitivity: Environmental Sensitivity to Positive Experiences as a Function of Genetic Differences.

Science.gov (United States)

Pluess, Michael

2017-02-01

A large number of gene-environment interaction studies provide evidence that some people are more likely to be negatively affected by adverse experiences as a function of specific genetic variants. However, such "risk" variants are surprisingly frequent in the population. Evolutionary analysis suggests that genetic variants associated with increased risk for maladaptive development under adverse environmental conditions are maintained in the population because they are also associated with advantages in response to different contextual conditions. These advantages may include (a) coexisting genetic resilience pertaining to other adverse influences, (b) a general genetic susceptibility to both low and high environmental quality, and (c) a coexisting propensity to benefit disproportionately from positive and supportive exposures, as reflected in the recent framework of vantage sensitivity. After introducing the basic properties of vantage sensitivity and highlighting conceptual similarities and differences with diathesis-stress and differential susceptibility patterns of gene-environment interaction, selected and recent empirical evidence for the notion of vantage sensitivity as a function of genetic differences is reviewed. The unique contribution that the new perspective of vantage sensitivity may make to our understanding of social inequality will be discussed after suggesting neurocognitive and molecular mechanisms hypothesized to underlie the propensity to benefit disproportionately from benevolent experiences. © 2015 Wiley Periodicals, Inc.

Cooptation of Peer Support Staff: Quantitative Evidence

Directory of Open Access Journals (Sweden)

Anthony J. Alberta

2014-03-01

Full Text Available Objective In 2007, the Centers for Medicare and Medicaid Services (CMS sent a letter to state Medicaid directors outlining requirements for implementing peer-based recovery support services (P-BRSS as a Medicaid-funded service. Since then, 30 states have implemented these services. Although the literature describing implementation of P-BRSS has identified the cooptation of peer support staff (PSS as a barrier to the effective provision of P-BRSS, the evidence for it remains anecdotal. This study attempts to determine if the context of employment in either a treatment organization or peer organization affected cooptation. Methods We conducted a survey of PSS in the fall of 2013. In all, 92 of the 181 respondents were working as PSS at the time, 53 in treatment organizations. Chi-square analysis was used to determine if the context of employment had an effect on the cooptation of peer staff. Results Peer staff working in treatment organizations reported that they were supervised by treatment staff and participated in employment-related training to improve their skills at providing treatment services more frequently than their counterparts in peer organizations. Peer staff working in treatment organizations also participated in training and education to prepare for employment as treatment professionals more frequently than peer staff working in peer organizations. Conclusions and Implications for Practice Peer staff members working in treatment organizations are subject to processes of acculturation into professional cultures that peer staff working in peer organizations are not. Effective implementation of P-BRSS should include specific efforts to minimize the cooptation of peer staff.

Genetics of the pig tapeworm in madagascar reveal a history of human dispersal and colonization.

Science.gov (United States)

Yanagida, Tetsuya; Carod, Jean-François; Sako, Yasuhito; Nakao, Minoru; Hoberg, Eric P; Ito, Akira

2014-01-01

An intricate history of human dispersal and geographic colonization has strongly affected the distribution of human pathogens. The pig tapeworm Taenia solium occurs throughout the world as the causative agent of cysticercosis, one of the most serious neglected tropical diseases. Discrete genetic lineages of T. solium in Asia and Africa/Latin America are geographically disjunct; only in Madagascar are they sympatric. Linguistic, archaeological and genetic evidence has indicated that the people in Madagascar have mixed ancestry from Island Southeast Asia and East Africa. Hence, anthropogenic introduction of the tapeworm from Southeast Asia and Africa had been postulated. This study shows that the major mitochondrial haplotype of T. solium in Madagascar is closely related to those from the Indian Subcontinent. Parasitological evidence presented here, and human genetics previously reported, support the hypothesis of an Indian influence on Malagasy culture coinciding with periods of early human migration onto the island. We also found evidence of nuclear-mitochondrial discordance in single tapeworms, indicating unexpected cross-fertilization between the two lineages of T. solium. Analyses of genetic and geographic populations of T. solium in Madagascar will shed light on apparently rapid evolution of this organism driven by recent (<2,000 yr) human migrations, following tens of thousands of years of geographic isolation.

Multiple lines of evidence for the origin of domesticated chili pepper, Capsicum annuum, in Mexico

Science.gov (United States)

Kraft, Kraig H.; Brown, Cecil H.; Nabhan, Gary P.; Luedeling, Eike; Luna Ruiz, José de Jesús; Coppens d’Eeckenbrugge, Geo; Hijmans, Robert J.; Gepts, Paul

2014-01-01

The study of crop origins has traditionally involved identifying geographic areas of high morphological diversity, sampling populations of wild progenitor species, and the archaeological retrieval of macroremains. Recent investigations have added identification of plant microremains (phytoliths, pollen, and starch grains), biochemical and molecular genetic approaches, and dating through 14C accelerator mass spectrometry. We investigate the origin of domesticated chili pepper, Capsicum annuum, by combining two approaches, species distribution modeling and paleobiolinguistics, with microsatellite genetic data and archaeobotanical data. The combination of these four lines of evidence yields consensus models indicating that domestication of C. annuum could have occurred in one or both of two areas of Mexico: northeastern Mexico and central-east Mexico. Genetic evidence shows more support for the more northern location, but jointly all four lines of evidence support central-east Mexico, where preceramic macroremains of chili pepper have been recovered in the Valley of Tehuacán. Located just to the east of this valley is the center of phylogenetic diversity of Proto-Otomanguean, a language spoken in mid-Holocene times and the oldest protolanguage for which a word for chili pepper reconstructs based on historical linguistics. For many crops, especially those that do not have a strong archaeobotanical record or phylogeographic pattern, it is difficult to precisely identify the time and place of their origin. Our results for chili pepper show that expressing all data in similar distance terms allows for combining contrasting lines of evidence and locating the region(s) where cultivation and domestication of a crop began. PMID:24753581

Postglacial recolonization in a cold climate specialist in western Europe: patterns of genetic diversity in the adder (Vipera berus) support the central-marginal hypothesis.

Science.gov (United States)

Ursenbacher, Sylvain; Guillon, Michaël; Cubizolle, Hervé; Dupoué, Andréaz; Blouin-Demers, Gabriel; Lourdais, Olivier

2015-07-01

Understanding the impact of postglacial recolonization on genetic diversity is essential in explaining current patterns of genetic variation. The central-marginal hypothesis (CMH) predicts a reduction in genetic diversity from the core of the distribution to peripheral populations, as well as reduced connectivity between peripheral populations. While the CMH has received considerable empirical support, its broad applicability is still debated and alternative hypotheses predict different spatial patterns of genetic diversity. Using microsatellite markers, we analysed the genetic diversity of the adder (Vipera berus) in western Europe to reconstruct postglacial recolonization. Approximate Bayesian Computation (ABC) analyses suggested a postglacial recolonization from two routes: a western route from the Atlantic Coast up to Belgium and a central route from the Massif Central to the Alps. This cold-adapted species likely used two isolated glacial refugia in southern France, in permafrost-free areas during the last glacial maximum. Adder populations further from putative glacial refugia had lower genetic diversity and reduced connectivity; therefore, our results support the predictions of the CMH. Our study also illustrates the utility of highly variable nuclear markers, such as microsatellites, and ABC to test competing recolonization hypotheses. © 2015 John Wiley & Sons Ltd.

Behavioral and Genetic Evidence for GIRK Channels in the CNS: Role in Physiology, Pathophysiology, and Drug Addiction.

Science.gov (United States)

Mayfield, Jody; Blednov, Yuri A; Harris, R Adron

2015-01-01

G protein-coupled inwardly rectifying potassium (GIRK) channels are widely expressed throughout the brain and mediate the inhibitory effects of many neurotransmitters. As a result, these channels are important for normal CNS function and have also been implicated in Down syndrome, Parkinson's disease, psychiatric disorders, epilepsy, and drug addiction. Knockout mouse models have provided extensive insight into the significance of GIRK channels under these conditions. This review examines the behavioral and genetic evidence from animal models and genetic association studies in humans linking GIRK channels with CNS disorders. We further explore the possibility that subunit-selective modulators and other advanced research tools will be instrumental in establishing the role of individual GIRK subunits in drug addiction and other relevant CNS diseases and in potentially advancing treatment options for these disorders. © 2015 Elsevier Inc. All rights reserved.

Selfish genetic elements, genetic conflict, and evolutionary innovation.

Science.gov (United States)

Werren, John H

2011-06-28

Genomes are vulnerable to selfish genetic elements (SGEs), which enhance their own transmission relative to the rest of an individual's genome but are neutral or harmful to the individual as a whole. As a result, genetic conflict occurs between SGEs and other genetic elements in the genome. There is growing evidence that SGEs, and the resulting genetic conflict, are an important motor for evolutionary change and innovation. In this review, the kinds of SGEs and their evolutionary consequences are described, including how these elements shape basic biological features, such as genome structure and gene regulation, evolution of new genes, origin of new species, and mechanisms of sex determination and development. The dynamics of SGEs are also considered, including possible "evolutionary functions" of SGEs.

A framework for production of systematic review based briefings to support evidence-informed decision-making.

Science.gov (United States)

Chambers, Duncan; Wilson, Paul

2012-07-09

We have developed a framework for translating existing sources of synthesized and quality-assessed evidence, primarily systematic reviews, into actionable messages in the form of short accessible briefings. The service aims to address real-life problems in response to requests from decision-makers.Development of the framework was based on a scoping review of existing resources and our initial experience with two briefing topics, including models of service provision for young people with eating disorders. We also drew on previous experience in dissemination research and practice. Where appropriate, we made use of the SUPporting POlicy relevant Reviews and Trials (SUPPORT) tools for evidence-informed policymaking. To produce a product that it is fit for this purpose it has been necessary to go beyond a traditional summary of the available evidence relating to effectiveness. Briefings have, therefore, included consideration of cost effectiveness, local applicability, implications relating to local service delivery, budgets, implementation and equity. Our first evidence briefings produced under this framework cover diagnostic endoscopy by specialist nurses and integrated care pathways in mental healthcare settings. The framework will enable researchers to present and contextualize evidence from systematic reviews and other sources of synthesized and quality-assessed evidence. The approach is designed to address the wide range of questions of interest to decision-makers, especially those commissioning services or managing service delivery and organization in primary or secondary care. Evaluation of the use and usefulness of the evidence briefings we produce is an integral part of the framework and will help to fill a gap in the literature.

Elucidating the genetic architecture of reproductive ageing in the Japanese population.

Science.gov (United States)

Horikoshi, Momoko; Day, Felix R; Akiyama, Masato; Hirata, Makoto; Kamatani, Yoichiro; Matsuda, Koichi; Ishigaki, Kazuyoshi; Kanai, Masahiro; Wright, Hollis; Toro, Carlos A; Ojeda, Sergio R; Lomniczi, Alejandro; Kubo, Michiaki; Ong, Ken K; Perry, John R B

2018-05-17

Population studies elucidating the genetic architecture of reproductive ageing have been largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured by common European genetic variation. Here, we report 26 loci (all P Japanese ancestry). Highlighted genes for menopause include GNRH1, which supports a primary, rather than passive, role for hypothalamic-pituitary GnRH signalling in the timing of menopause. For puberty timing, we demonstrate an aetiological role for receptor-like protein tyrosine phosphatases by combining evidence across population genetics and pre- and peri-pubertal changes in hypothalamic gene expression in rodent and primate models. Furthermore, our findings demonstrate widespread differences in allele frequencies and effect estimates between Japanese and European associated variants, highlighting the benefits and challenges of large-scale trans-ethnic approaches.

Genetic structure and bio-climatic modeling support allopatric over parapatric speciation along a latitudinal gradient

Directory of Open Access Journals (Sweden)

Rossetto Maurizio

2012-08-01

Full Text Available Abstract Background Four of the five species of Telopea (Proteaceae are distributed in a latitudinal replacement pattern on the south-eastern Australian mainland. In similar circumstances, a simple allopatric speciation model that identifies the origins of genetic isolation within temporal geographic separation is considered as the default model. However, secondary contact between differentiated lineages can result in similar distributional patterns to those arising from a process of parapatric speciation (where gene flow between lineages remains uninterrupted during differentiation. Our aim was to use the characteristic distributional patterns in Telopea to test whether it reflected the evolutionary models of allopatric or parapatric speciation. Using a combination of genetic evidence and environmental niche modelling, we focused on three main questions: do currently described geographic borders coincide with genetic and environmental boundaries; are there hybrid zones in areas of secondary contact between closely related species; did species distributions contract during the last glacial maximum resulting in distributional gaps even where overlap and hybridisation currently occur? Results Total genomic DNA was extracted from 619 individuals sampled from 36 populations representing the four species. Seven nuclear microsatellites (nSSR and six chloroplast microsatellites (cpSSR were amplified across all populations. Genetic structure and the signature of admixture in overlap zones was described using the Bayesian clustering methods implemented in STUCTURE and NewHybrids respectively. Relationships between chlorotypes were reconstructed as a median-joining network. Environmental niche models were produced for all species using environmental parameters from both the present day and the last glacial maximum (LGM. The nSSR loci amplified a total of 154 alleles, while data for the cpSSR loci produced a network of six chlorotypes. STRUCTURE revealed

Initiatives supporting evidence informed health system policymaking in Cameroon and Uganda: a comparative historical case study.

Science.gov (United States)

Ongolo-Zogo, Pierre; Lavis, John N; Tomson, Goran; Sewankambo, Nelson K

2014-11-29

There is a scarcity of empirical data on institutions devoted to knowledge brokerage and their influence in Africa. Our objective was to describe two pioneering Knowledge Translation Platforms (KTPs) supporting evidence informed health system policymaking (EIHSP) in Cameroon and Uganda since 2006. This comparative historical case study of Evidence Informed Policy Network (EVIPNet) Cameroon and Regional East African Community Health Policy Initiative (REACH-PI) Uganda using multiple methods comprised (i) a descriptive documentary analysis for a narrative historical account, (ii) an interpretive documentary analysis of the context, profiles, activities and outputs inventories and (iii) an evaluative survey of stakeholders exposed to evidence briefs produced and policy dialogues organized by the KTPs. Both initiatives benefited from the technical and scientific support from the global EVIPNet resource group. EVIPNet Cameroon secretariat operates with a multidisciplinary group of part-time researchers in a teaching hospital closely linked to the ministry of health. REACH-PI Uganda secretariat operates with a smaller team of full time staff in a public university. Financial resources were mobilized from external donors to scale up capacity building, knowledge management, and linkage and exchange activities. Between 2008 and 2012, twelve evidence briefs were produced in Cameroon and three in Uganda. In 2012, six rapid evidence syntheses in response to stakeholders' urgent needs were produced in Cameroon against 73 in Uganda between 2010 and 2012. Ten policy dialogues (seven in Cameroon and three in Uganda) informed by pre-circulated evidence briefs were well received. Both KTPs contributed to developing and testing new resources and tools for EIHSP. A network of local and global experts has created new spaces for evidence informed deliberations on priority health policy issues related to MDGs. This descriptive historical account of two KTPs housed in government

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.

Directory of Open Access Journals (Sweden)

Yiqin Wang

2016-10-01

Full Text Available Increasing clinical and biochemical evidence implicate mitochondrial dysfunction in the pathophysiology of Autism Spectrum Disorder (ASD, but little is known about the biological basis for this connection. A possible cause of ASD is the genetic variation in the mitochondrial DNA (mtDNA sequence, which has yet to be thoroughly investigated in large genomic studies of ASD. Here we evaluated mtDNA variation, including the mixture of different mtDNA molecules in the same individual (i.e., heteroplasmy, using whole-exome sequencing data from mother-proband-sibling trios from simplex families (n = 903 where only one child is affected by ASD. We found that heteroplasmic mutations in autistic probands were enriched at non-polymorphic mtDNA sites (P = 0.0015, which were more likely to confer deleterious effects than heteroplasmies at polymorphic mtDNA sites. Accordingly, we observed a ~1.5-fold enrichment of nonsynonymous mutations (P = 0.0028 as well as a ~2.2-fold enrichment of predicted pathogenic mutations (P = 0.0016 in autistic probands compared to their non-autistic siblings. Both nonsynonymous and predicted pathogenic mutations private to probands conferred increased risk of ASD (Odds Ratio, OR[95% CI] = 1.87[1.14-3.11] and 2.55[1.26-5.51], respectively, and their influence on ASD was most pronounced in families with probands showing diminished IQ and/or impaired social behavior compared to their non-autistic siblings. We also showed that the genetic transmission pattern of mtDNA heteroplasmies with high pathogenic potential differed between mother-autistic proband pairs and mother-sibling pairs, implicating developmental and possibly in utero contributions. Taken together, our genetic findings substantiate pathogenic mtDNA mutations as a potential cause for ASD and synergize with recent work calling attention to their unique metabolic phenotypes for diagnosis and treatment of children with ASD.

Comorbidity of Alcohol Use Disorder and Chronic Pain: Genetic Influences on Brain Reward and Stress Systems.

Science.gov (United States)

Yeung, Ellen W; Craggs, Jason G; Gizer, Ian R

2017-11-01

Alcohol use disorder (AUD) is highly comorbid with chronic pain (CP). Evidence has suggested that neuroadaptive processes characterized by reward deficit and stress surfeit are involved in the development of AUD and pain chronification. Neurological data suggest that shared genetic architecture associated with the reward and stress systems may contribute to the comorbidity of AUD and CP. This monograph first delineates the prevailing theories of the development of AUD and pain chronification focusing on the reward and stress systems. It then provides a brief summary of relevant neurological findings followed by an evaluation of evidence documented by molecular genetic studies. Candidate gene association studies have provided some initial support for the genetic overlap between AUD and CP; however, these results must be interpreted with caution until studies with sufficient statistical power are conducted and replications obtained. Genomewide association studies have suggested a number of genes (e.g., TBX19, HTR7, and ADRA1A) that are either directly or indirectly related to the reward and stress systems in the AUD and CP literature. Evidence reviewed in this monograph suggests that shared genetic liability underlying the comorbidity between AUD and CP, if present, is likely to be complex. As the advancement in molecular genetic methods continues, future studies may show broader central nervous system involvement in AUD-CP comorbidity. Copyright © 2017 by the Research Society on Alcoholism.

The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

DEFF Research Database (Denmark)

Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

2015-01-01

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

Evidence for genetic association of RORB with bipolar disorder

Directory of Open Access Journals (Sweden)

Mick Eric

2009-11-01

Full Text Available Abstract Background Bipolar disorder, particularly in children, is characterized by rapid cycling and switching, making circadian clock genes plausible molecular underpinnings for bipolar disorder. We previously reported work establishing mice lacking the clock gene D-box binding protein (DBP as a stress-reactive genetic animal model of bipolar disorder. Microarray studies revealed that expression of two closely related clock genes, RAR-related orphan receptors alpha (RORA and beta (RORB, was altered in these mice. These retinoid-related receptors are involved in a number of pathways including neurogenesis, stress response, and modulation of circadian rhythms. Here we report association studies between bipolar disorder and single-nucleotide polymorphisms (SNPs in RORA and RORB. Methods We genotyped 355 RORA and RORB SNPs in a pediatric cohort consisting of a family-based sample of 153 trios and an independent, non-overlapping case-control sample of 152 cases and 140 controls. Bipolar disorder in children and adolescents is characterized by increased stress reactivity and frequent episodes of shorter duration; thus our cohort provides a potentially enriched sample for identifying genes involved in cycling and switching. Results We report that four intronic RORB SNPs showed positive associations with the pediatric bipolar phenotype that survived Bonferroni correction for multiple comparisons in the case-control sample. Three RORB haplotype blocks implicating an additional 11 SNPs were also associated with the disease in the case-control sample. However, these significant associations were not replicated in the sample of trios. There was no evidence for association between pediatric bipolar disorder and any RORA SNPs or haplotype blocks after multiple-test correction. In addition, we found no strong evidence for association between the age-at-onset of bipolar disorder with any RORA or RORB SNPs. Conclusion Our findings suggest that clock genes in

Molecular evolution of avian reovirus: evidence for genetic diversity and reassortment of the S-class genome segments and multiple cocirculating lineages

International Nuclear Information System (INIS)

Liu, Hung J.; Lee, Long H.; Hsu, Hsiao W.; Kuo, Liam C.; Liao, Ming H.

2003-01-01

Nucleotide sequences of the S-class genome segments of 17 field-isolates and vaccine strains of avian reovirus (ARV) isolated over a 23-year period from different hosts, pathotypes, and geographic locations were examined and analyzed to define phylogenetic profiles and evolutionary mechanism. The S1 genome segment showed noticeably higher divergence than the other S-class genes. The σC-encoding gene has evolved into six distinct lineages. In contrast, the other S-class genes showed less divergence than that of the σC-encoding gene and have evolved into two to three major distinct lineages, respectively. Comparative sequence analysis provided evidence indicating extensive sequence divergence between ARV and other orthoreoviruses. The evolutionary trees of each gene were distinct, suggesting that these genes evolve in an independent manner. Furthermore, variable topologies were the result of frequent genetic reassortment among multiple cocirculating lineages. Results showed genetic diversity correlated more closely with date of isolation and geographic sites than with host species and pathotypes. This is the first evidence demonstrating genetic variability among circulating ARVs through a combination of evolutionary mechanisms involving multiple cocirculating lineages and genetic reassortment. The evolutionary rates and patterns of base substitutions were examined. The evolutionary rate for the σC-encoding gene and σC protein was higher than for the other S-class genes and other family of viruses. With the exception of the σC-encoding gene, which nonsynonymous substitutions predominate over synonymous, the evolutionary process of the other S-class genes can be explained by the neutral theory of molecular evolution. Results revealed that synonymous substitutions predominate over nonsynonymous in the S-class genes, even though genetic diversity and substitution rates vary among the viruses

No evidence for female discrimination against male house mice carrying a selfish genetic element.

Science.gov (United States)

Sutter, Andreas; Lindholm, Anna K

2016-12-01

Meiotic drivers distort transmission to the next generation in their favor, with detrimental effects on the fitness of their homologues and the rest of the genome. Male carriers of meiotic drivers commonly inflict costs on their mates through genetic incompatibility, reduced fecundity, or biased brood sex ratios. Given these costs, evidence for female discrimination against male carriers is surprisingly rare. One of few examples is the t haplotype in house mice, a meiotic driver that shows strong transmission distortion in males and is typically homozygote lethal. As a consequence, mating between 2 t heterozygous (+/ t ) mice leads to high embryo mortality. Previous experiments showing that +/ t females avoid this incompatibility cost by preferring +/+ versus +/ t males have inferred preference based on olfactory cues or brief social interactions. Evidence from mating contexts in laboratory settings and semi-natural populations has been inconclusive. Here, we investigated female choice from a large number of no-choice mating trials. We found no evidence for discrimination against +/ t males based on mating, remating, and copulatory behavior. Further, we found no evidence for avoidance of incompatibility through selective interactions between gametes. The likelihood of mating showed significant effects of female weight and genotype, suggesting that our test paradigm enabled females to exhibit mate choice. We discuss the strengths and limitations of our approach. By explicitly considering selection at both the individual and gene level, we argue why precopulatory female discrimination by +/ t females may be less evolutionarily stable than discrimination by all females based on postcopulatory mechanisms.

Non-Genetic Determinants of Mosquito Competence for Malaria Parasites

Science.gov (United States)

Lefèvre, Thierry; Vantaux, Amélie; Dabiré, Kounbobr R.; Mouline, Karine; Cohuet, Anna

2013-01-01

Understanding how mosquito vectors and malaria parasites interact is of fundamental interest, and it also offers novel perspectives for disease control. Both the genetic and environmental contexts are known to affect the ability of mosquitoes to support malaria development and transmission, i.e., vector competence. Although the role of environment has long been recognized, much work has focused on host and parasite genetic effects. However, the last few years have seen a surge of studies revealing a great diversity of ways in which non-genetic factors can interfere with mosquito-Plasmodium interactions. Here, we review the current evidence for such environmentally mediated effects, including ambient temperature, mosquito diet, microbial gut flora, and infection history, and we identify additional factors previously overlooked in mosquito-Plasmodium interactions. We also discuss epidemiological implications, and the evolutionary consequences for vector immunity and parasite transmission strategies. Finally, we propose directions for further research and argue that an improved knowledge of non-genetic influences on mosquito-Plasmodium interactions could aid in implementing conventional malaria control measures and contribute to the design of novel strategies. PMID:23818841

Non-genetic determinants of mosquito competence for malaria parasites.

Directory of Open Access Journals (Sweden)

Thierry Lefèvre

Full Text Available Understanding how mosquito vectors and malaria parasites interact is of fundamental interest, and it also offers novel perspectives for disease control. Both the genetic and environmental contexts are known to affect the ability of mosquitoes to support malaria development and transmission, i.e., vector competence. Although the role of environment has long been recognized, much work has focused on host and parasite genetic effects. However, the last few years have seen a surge of studies revealing a great diversity of ways in which non-genetic factors can interfere with mosquito-Plasmodium interactions. Here, we review the current evidence for such environmentally mediated effects, including ambient temperature, mosquito diet, microbial gut flora, and infection history, and we identify additional factors previously overlooked in mosquito-Plasmodium interactions. We also discuss epidemiological implications, and the evolutionary consequences for vector immunity and parasite transmission strategies. Finally, we propose directions for further research and argue that an improved knowledge of non-genetic influences on mosquito-Plasmodium interactions could aid in implementing conventional malaria control measures and contribute to the design of novel strategies.

Genetic structure of populations of whale sharks among ocean basins and evidence for their historic rise and recent decline

KAUST Repository

Vignaud, Thomas M.

2014-05-01

This study presents genetic evidence that whale sharks, Rhincodon typus, are comprised of at least two populations that rarely mix and is the first to document a population expansion. Relatively high genetic structure is found when comparing sharks from the Gulf of Mexico with sharks from the Indo-Pacific. If mixing occurs between the Indian and Atlantic Oceans, it is not sufficient to counter genetic drift. This suggests whale sharks are not all part of a single global metapopulation. The significant population expansion we found was indicated by both microsatellite and mitochondrial DNA. The expansion may have happened during the Holocene, when tropical species could expand their range due to sea-level rise, eliminating dispersal barriers and increasing plankton productivity. However, the historic trend of population increase may have reversed recently. Declines in genetic diversity are found for 6 consecutive years at Ningaloo Reef in Australia. The declines in genetic diversity being seen now in Australia may be due to commercial-scale harvesting of whale sharks and collision with boats in past decades in other countries in the Indo-Pacific. The study findings have implications for models of population connectivity for whale sharks and advocate for continued focus on effective protection of the world\\'s largest fish at multiple spatial scales. © 2014 John Wiley & Sons Ltd.

Genetic structure of populations of whale sharks among ocean basins and evidence for their historic rise and recent decline.

Science.gov (United States)

Vignaud, Thomas M; Maynard, Jeffrey A; Leblois, Raphael; Meekan, Mark G; Vázquez-Juárez, Ricardo; Ramírez-Macías, Dení; Pierce, Simon J; Rowat, David; Berumen, Michael L; Beeravolu, Champak; Baksay, Sandra; Planes, Serge

2014-05-01

This study presents genetic evidence that whale sharks, Rhincodon typus, are comprised of at least two populations that rarely mix and is the first to document a population expansion. Relatively high genetic structure is found when comparing sharks from the Gulf of Mexico with sharks from the Indo-Pacific. If mixing occurs between the Indian and Atlantic Oceans, it is not sufficient to counter genetic drift. This suggests whale sharks are not all part of a single global metapopulation. The significant population expansion we found was indicated by both microsatellite and mitochondrial DNA. The expansion may have happened during the Holocene, when tropical species could expand their range due to sea-level rise, eliminating dispersal barriers and increasing plankton productivity. However, the historic trend of population increase may have reversed recently. Declines in genetic diversity are found for 6 consecutive years at Ningaloo Reef in Australia. The declines in genetic diversity being seen now in Australia may be due to commercial-scale harvesting of whale sharks and collision with boats in past decades in other countries in the Indo-Pacific. The study findings have implications for models of population connectivity for whale sharks and advocate for continued focus on effective protection of the world's largest fish at multiple spatial scales. © 2014 John Wiley & Sons Ltd.

First evidence of intraclonal genetic exchange in trypanosomatids using two Leishmania infantum fluorescent transgenic clones.

Directory of Open Access Journals (Sweden)

Estefanía Calvo-Álvarez

2014-09-01

Full Text Available The mode of reproduction in Leishmania spp has been argued to be essentially clonal. However, recent data (genetic analysis of populations and co-infections in sand flies have proposed the existence of a non-obligate sexual cycle in the extracellular stage of the parasite within the sand fly vector. In this article we propose the existence of intraclonal genetic exchange in the natural vector of Leishmania infantum.We have developed transgenic L. infantum lines expressing drug resistance markers linked to green and red fluorescent reporters. We hypothesized whether those cells with identical genotype can recognize each other and mate. Both types of markers were successfully exchanged within the sand fly midgut of the natural vector Phlebotomus perniciosus when individuals from these species were fed with a mixture of parental clones. Using the yellow phenotype and drug resistance markers, we provide evidence for genetic exchange in L. infantum. The hybrid progeny appeared to be triploid based on DNA content analysis. The hybrid clone analyzed was stable throughout the complete parasite life cycle. The progress of infections by the hybrid clone in BALB/c mice caused a reduction in parasite loads in both spleen and liver, and provided weight values similar to those obtained with uninfected mice. Spleen arginase activity was also significantly reduced relative to parental strains.A L. infantum hybrid lineage was obtained from intraclonal genetic exchange within the midgut of the natural vector, suggesting the ability of this parasite to recognize the same genotype and mate. The yellow hybrid progeny is stable throughout the whole parasite life cycle but with a slower virulence, which correlates well with the lower arginase activity detected both in vitro and in vivo infections.

Genetic surveillance detects both clonal and epidemic transmission of malaria following enhanced intervention in Senegal.

Directory of Open Access Journals (Sweden)

Rachel Daniels

Full Text Available Using parasite genotyping tools, we screened patients with mild uncomplicated malaria seeking treatment at a clinic in Thiès, Senegal, from 2006 to 2011. We identified a growing frequency of infections caused by genetically identical parasite strains, coincident with increased deployment of malaria control interventions and decreased malaria deaths. Parasite genotypes in some cases persisted clonally across dry seasons. The increase in frequency of genetically identical parasite strains corresponded with decrease in the probability of multiple infections. Further, these observations support evidence of both clonal and epidemic population structures. These data provide the first evidence of a temporal correlation between the appearance of identical parasite types and increased malaria control efforts in Africa, which here included distribution of insecticide treated nets (ITNs, use of rapid diagnostic tests (RDTs for malaria detection, and deployment of artemisinin combination therapy (ACT. Our results imply that genetic surveillance can be used to evaluate the effectiveness of disease control strategies and assist a rational global malaria eradication campaign.

GeVaDSs – decision support system for novel Genetic Vaccine development process

Directory of Open Access Journals (Sweden)

Blazewicz Jacek

2012-05-01

Full Text Available Abstract Background The lack of a uniform way for qualitative and quantitative evaluation of vaccine candidates under development led us to set up a standardized scheme for vaccine efficacy and safety evaluation. We developed and implemented molecular and immunology methods, and designed support tools for immunization data storage and analyses. Such collection can create a unique opportunity for immunologists to analyse data delivered from their laboratories. Results We designed and implemented GeVaDSs (Genetic Vaccine Decision Support system an interactive system for efficient storage, integration, retrieval and representation of data. Moreover, GeVaDSs allows for relevant association and interpretation of data, and thus for knowledge-based generation of testable hypotheses of vaccine responses. Conclusions GeVaDSs has been tested by several laboratories in Europe, and proved its usefulness in vaccine analysis. Case study of its application is presented in the additional files. The system is available at: http://gevads.cs.put.poznan.pl/preview/(login: viewer, password: password.

Low genetic variation and evidence of limited dispersal in the regionally important Belize manatee

Science.gov (United States)

Hunter, M.E.; Auil-Gomez, N. E.; Tucker, K.P.; Bonde, R.K.; Powell, J.; McGuire, P.M.

2010-01-01

The Antillean subspecies of the West Indian manatee Trichechus manatus is found throughout Central and South America and the Caribbean. Because of severe hunting pressure during the 17th through 19th centuries, only small populations of the once widespread aquatic mammal remain. Fortunately, protections in Belize reduced hunting in the 1930s and allowed the country's manatee population to become the largest breeding population in the Wider Caribbean. However, increasing and emerging anthropogenic threats such as coastal development, pollution, watercraft collision and net entanglement represent challenges to this ecologically important population. To inform conservation and management decisions, a comprehensive molecular investigation of the genetic diversity, relatedness and population structure of the Belize manatee population was conducted using mitochondrial and microsatellite DNA. Compared with other mammal populations, a low degree of genetic diversity was detected (HE=0.455; NA=3.4), corresponding to the small population size and long-term exploitation. Manatees from the Belize City Cayes and Southern Lagoon system were genetically different, with microsatellite and mitochondrial FST values of 0.029 and 0.078, respectively (P≤0.05). This, along with the distinct habitats and threats, indicates that separate protection of these two groups would best preserve the region's diversity. The Belize population and Florida subspecies appear to be unrelated with microsatellite and mitochondrial FST values of 0.141 and 0.63, respectively (P≤0.001), supporting the subspecies designations and suggesting low vagility throughout the northern Caribbean habitat. Further monitoring and protection may allow an increase in the Belize manatee genetic diversity and population size. A large and expanding Belize population could potentially assist in the recovery of other threatened or functionally extinct Central American Antillean manatee populations.

Genetic evidence for a worldwide chaotic dispersion pattern of the arbovirus vector, Aedes albopictus.

Directory of Open Access Journals (Sweden)

Mosè Manni

2017-01-01

Full Text Available Invasive species represent a global concern for their rapid spread and the possibility of infectious disease transmission. This is the case of the global invader Aedes albopictus, the Asian tiger mosquito. This species is a vector of medically important arboviruses, notably chikungunya (CHIKV, dengue (DENV and Zika (ZIKV. The reconstruction of the complex colonization pattern of this mosquito has great potential for mitigating its spread and, consequently, disease risks.Classical population genetics analyses and Approximate Bayesian Computation (ABC approaches were combined to disentangle the demographic history of Aedes albopictus populations from representative countries in the Southeast Asian native range and in the recent and more recently colonized areas. In Southeast Asia, the low differentiation and the high co-ancestry values identified among China, Thailand and Japan indicate that, in the native range, these populations maintain high genetic connectivity, revealing their ancestral common origin. China appears to be the oldest population. Outside Southeast Asia, the invasion process in La Réunion, America and the Mediterranean Basin is primarily supported by a chaotic propagule distribution, which cooperates in maintaining a relatively high genetic diversity within the adventive populations.From our data, it appears that independent and also trans-continental introductions of Ae. albopictus may have facilitated the rapid establishment of adventive populations through admixture of unrelated genomes. As a consequence, a great amount of intra-population variability has been detected, and it is likely that this variability may extend to the genetic mechanisms controlling vector competence. Thus, in the context of the invasion process of this mosquito, it is possible that both population ancestry and admixture contribute to create the conditions for the efficient transmission of arboviruses and for outbreak establishment.

A framework for production of systematic review based briefings to support evidence-informed decision-making

Directory of Open Access Journals (Sweden)

Chambers Duncan

2012-07-01

Full Text Available Abstract Background We have developed a framework for translating existing sources of synthesized and quality-assessed evidence, primarily systematic reviews, into actionable messages in the form of short accessible briefings. The service aims to address real-life problems in response to requests from decision-makers. Development of the framework was based on a scoping review of existing resources and our initial experience with two briefing topics, including models of service provision for young people with eating disorders. We also drew on previous experience in dissemination research and practice. Where appropriate, we made use of the SUPporting POlicy relevant Reviews and Trials (SUPPORT tools for evidence-informed policymaking. Findings To produce a product that it is fit for this purpose it has been necessary to go beyond a traditional summary of the available evidence relating to effectiveness. Briefings have, therefore, included consideration of cost effectiveness, local applicability, implications relating to local service delivery, budgets, implementation and equity. Our first evidence briefings produced under this framework cover diagnostic endoscopy by specialist nurses and integrated care pathways in mental healthcare settings. Conclusions The framework will enable researchers to present and contextualize evidence from systematic reviews and other sources of synthesized and quality-assessed evidence. The approach is designed to address the wide range of questions of interest to decision-makers, especially those commissioning services or managing service delivery and organization in primary or secondary care. Evaluation of the use and usefulness of the evidence briefings we produce is an integral part of the framework and will help to fill a gap in the literature.

Forecasting systems reliability based on support vector regression with genetic algorithms

International Nuclear Information System (INIS)

Chen, K.-Y.

2007-01-01

This study applies a novel neural-network technique, support vector regression (SVR), to forecast reliability in engine systems. The aim of this study is to examine the feasibility of SVR in systems reliability prediction by comparing it with the existing neural-network approaches and the autoregressive integrated moving average (ARIMA) model. To build an effective SVR model, SVR's parameters must be set carefully. This study proposes a novel approach, known as GA-SVR, which searches for SVR's optimal parameters using real-value genetic algorithms, and then adopts the optimal parameters to construct the SVR models. A real reliability data for 40 suits of turbochargers were employed as the data set. The experimental results demonstrate that SVR outperforms the existing neural-network approaches and the traditional ARIMA models based on the normalized root mean square error and mean absolute percentage error

Weighing the Evidence of Common Beliefs in Obesity Research.

Science.gov (United States)

Casazza, Krista; Brown, Andrew; Astrup, Arne; Bertz, Fredrik; Baum, Charles; Brown, Michelle Bohan; Dawson, John; Durant, Nefertiti; Dutton, Gareth; Fields, David A; Fontaine, Kevin R; Heymsfield, Steven; Levitsky, David; Mehta, Tapan; Menachemi, Nir; Newby, P K; Pate, Russell; Raynor, Hollie; Rolls, Barbara J; Sen, Bisakha; Smith, Daniel L; Thomas, Diana; Wansink, Brian; Allison, David B

2015-01-01

Obesity is a topic on which many views are strongly held in the absence of scientific evidence to support those views, and some views are strongly held despite evidence to contradict those views. We refer to the former as "presumptions" and the latter as "myths." Here, we present nine myths and 10 presumptions surrounding the effects of rapid weight loss; setting realistic goals in weight loss therapy; stage of change or readiness to lose weight; physical education classes; breastfeeding; daily self-weighing; genetic contribution to obesity; the "Freshman 15"; food deserts; regularly eating (versus skipping) breakfast; eating close to bedtime; eating more fruits and vegetables; weight cycling (i.e., yo-yo dieting); snacking; built environment; reducing screen time in childhood obesity; portion size; participation in family mealtime; and drinking water as a means of weight loss. For each of these, we describe the belief and present evidence that the belief is widely held or stated, reasons to support the conjecture that the belief might be true, evidence to directly support or refute the belief, and findings from randomized controlled trials, if available. We conclude with a discussion of the implications of these determinations, conjecture on why so many myths and presumptions exist, and suggestions for limiting the spread of these and other unsubstantiated beliefs about the obesity domain.

Mutational analyses of molecularly cloned satellite tobacco mosaic virus during serial passage in plants: Evidence for hotspots of genetic change

Science.gov (United States)

Kurath, G.; Dodds, J.A.

1995-01-01

The high level of genetic diversity and rapid evolution of viral RNA genomes are well documented, but few studies have characterized the rate and nature of ongoing genetic change over time under controlled experimental conditions, especially in plant hosts. The RNA genome of satellite tobacco mosaic virus (STMV) was used as an effective model for such studies because of advantageous features of its genome structure and because the extant genetic heterogeneity of STMV has been characterized previously. In the present study, the process of genetic change over time was studied by monitoring multiple serial passage lines of STMV populations for changes in their consensus sequences. A total of 42 passage lines were initiated by inoculation of tobacco plants with a helper tobamovirus and one of four STMV RNA inocula that were transcribed from full-length infectious STMV clones or extracted from purified STMV type strain virions. Ten serial passages were carried out for each line and the consensus genotypes of progeny STMV populations were assessed for genetic change by RNase protection analyses of the entire 1,059-nt STMV genome. Three different types of genetic change were observed, including the fixation of novel mutations in 9 of 42 lines, mutation at the major heterogeneity site near nt 751 in 5 of the 19 lines inoculated with a single genotype, and selection of a single major genotype in 6 of the 23 lines inoculated with mixed genotypes. Sequence analyses showed that the majority of mutations were single base substitutions. The distribution of mutation sites included three clusters in which mutations occurred at or very near the same site, suggesting hot spots of genetic change in the STMV genome. The diversity of genetic changes in sibling lines is clear evidence for the important role of chance and random sampling events in the process of genetic diversification of STMV virus populations.

Genetic diversity in Trichomonas vaginalis.

Science.gov (United States)

Meade, John C; Carlton, Jane M

2013-09-01

Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

Group A Rotaviruses in Chinese Bats: Genetic Composition, Serology, and Evidence for Bat-to-Human Transmission and Reassortment.

Science.gov (United States)

He, Biao; Huang, Xiaohong; Zhang, Fuqiang; Tan, Weilong; Matthijnssens, Jelle; Qin, Shaomin; Xu, Lin; Zhao, Zihan; Yang, Ling'en; Wang, Quanxi; Hu, Tingsong; Bao, Xiaolei; Wu, Jianmin; Tu, Changchun

2017-06-15

Bats are natural reservoirs for many pathogenic viruses, and increasing evidence supports the notion that bats can also harbor group A rotaviruses (RVAs), important causative agents of diarrhea in children and young animals. Currently, 8 RVA strains possessing completely novel genotype constellations or genotypes possibly originating from other mammals have been identified from African and Chinese bats. However, all the data were mainly based on detection of RVA RNA, present only during acute infections, which does not permit assessment of the true exposure of a bat population to RVA. To systematically investigate the genetic diversity of RVAs, 547 bat anal swabs or gut samples along with 448 bat sera were collected from five South Chinese provinces. Specific reverse transcription-PCR (RT-PCR) screening found four RVA strains. Strain GLRL1 possessed a completely novel genotype constellation, whereas the other three possessed a constellation consistent with the MSLH14-like genotype, a newly characterized group of viruses widely prevalent in Chinese insectivorous bats. Among the latter, strain LZHP2 provided strong evidence of cross-species transmission of RVAs from bats to humans, whereas strains YSSK5 and BSTM70 were likely reassortants between typical MSLH14-like RVAs and human RVAs. RVA-specific antibodies were detected in 10.7% (48/448) of bat sera by an indirect immunofluorescence assay (IIFA). Bats in Guangxi and Yunnan had a higher RVA-specific antibody prevalence than those from Fujian and Zhejiang provinces. These observations provide evidence for cross-species transmission of MSLH14-like bat RVAs to humans, highlighting the impact of bats as reservoirs of RVAs on public health. IMPORTANCE Bat viruses, such as severe acute respiratory syndrome (SARS), Middle East respiratory syndrome (MERS), Ebola, Hendra, and Nipah viruses, are important pathogens causing outbreaks of severe emerging infectious diseases. However, little is known about bat viruses capable

Postglacial recolonization shaped the genetic diversity of the winter moth (Operophtera brumata) in Europe.

Science.gov (United States)

Andersen, Jeremy C; Havill, Nathan P; Caccone, Adalgisa; Elkinton, Joseph S

2017-05-01

Changes in climate conditions, particularly during the Quaternary climatic oscillations, have long been recognized to be important for shaping patterns of species diversity. For species residing in the western Palearctic, two commonly observed genetic patterns resulting from these cycles are as follows: (1) that the numbers and distributions of genetic lineages correspond with the use of geographically distinct glacial refugia and (2) that southern populations are generally more diverse than northern populations (the "southern richness, northern purity" paradigm). To determine whether these patterns hold true for the widespread pest species the winter moth ( Operophtera brumata ), we genotyped 699 individual winter moths collected from 15 Eurasian countries with 24 polymorphic microsatellite loci. We find strong evidence for the presence of two major genetic clusters that diverged ~18 to ~22 ka, with evidence that secondary contact (i.e., hybridization) resumed ~ 5 ka along a well-established hybrid zone in Central Europe. This pattern supports the hypothesis that contemporary populations descend from populations that resided in distinct glacial refugia. However, unlike many previous studies of postglacial recolonization, we found no evidence for the "southern richness, northern purity" paradigm. We also find evidence for ongoing gene flow between populations in adjacent Eurasian countries, suggesting that long-distance dispersal plays an important part in shaping winter moth genetic diversity. In addition, we find that this gene flow is predominantly in a west-to-east direction, suggesting that recently debated reports of cyclical outbreaks of winter moth spreading from east to west across Europe are not the result of dispersal.

Retinoblastoma and the Genetic Theory of Cancer: An Old Paradigm Trying to Survive to the Evidence

International Nuclear Information System (INIS)

Mastrangelo, D.; Lore, C.; Hadjistilianou, T.; De Francesco, S.

2009-01-01

Retinoblastoma (Rb) is considered to represent the prototype of cancer linked to the sequential loss or inactivation of both alleles of a so-called “tumor suppressor gene”, the Rb1 gene. The pathogenetic mechanism behind this tumor was first hypothesized by Knudson in 1971 and further confirmed by others who identified the Rb1 gene whose loss or inactivation was claimed to be responsible for the disease. However, after about four decades of continuous research in the field of molecular biology, the evidence behind the role of the Rb1 gene in Rb appears to be seriously flawed in the light of epidemiological, biological, and clinical evidences. This editorial summarizes the inconsistencies on this subject. Nevertheless, the molecular biology establishment still adheres to the biased view of the genetic origin of Rb and other cancers, and hardly any alternative explanations are taken into account.

Molecular genetic evidence for the place of origin of the Pacific rat, Rattus exulans.

Directory of Open Access Journals (Sweden)

Vicki Thomson

Full Text Available Commensal plants and animals have long been used to track human migrations, with Rattus exulans (the Pacific rat a common organism for reconstructing Polynesian dispersal in the Pacific. However, with no knowledge of the homeland of R. exulans, the place of origin of this human-commensal relationship is unknown. We conducted a mitochondrial DNA phylogeographic survey of R. exulans diversity across the potential natural range in mainland and Island Southeast Asia in order to establish the origin of this human-commensal dyad. We also conducted allozyme electrophoresis on samples from ISEA to obtain a perspective on patterns of genetic diversity in this critical region. Finally, we compared molecular genetic evidence with knowledge of prehistoric rodent faunas in mainland and ISEA. We find that ISEA populations of R. exulans contain the highest mtDNA lineage diversity including significant haplotype diversity not represented elsewhere in the species range. Within ISEA, the island of Flores in the Lesser Sunda group contains the highest diversity in ISEA (across all loci and also has a deep fossil record of small mammals that appears to include R. exulans. Therefore, in addition to Flores harboring unusual diversity in the form of Homo floresiensis, dwarfed stegodons and giant rats, this island appears to be the homeland of R. exulans.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

Science.gov (United States)

Patel, Ronak Y; Shah, Neethu; Jackson, Andrew R; Ghosh, Rajarshi; Pawliczek, Piotr; Paithankar, Sameer; Baker, Aaron; Riehle, Kevin; Chen, Hailin; Milosavljevic, Sofia; Bizon, Chris; Rynearson, Shawn; Nelson, Tristan; Jarvik, Gail P; Rehm, Heidi L; Harrison, Steven M; Azzariti, Danielle; Powell, Bradford; Babb, Larry; Plon, Sharon E; Milosavljevic, Aleksandar

2017-01-12

The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through practice guidelines, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have published standards and guidelines for the interpretation of sequence variants. However, manual application of the guidelines is tedious and prone to human error. Web-based tools and software systems may not only address this problem but also document reasoning and supporting evidence, thus enabling transparency of evidence-based reasoning and resolution of discordant interpretations. In this report, we describe the design, implementation, and initial testing of the Clinical Genome Resource (ClinGen) Pathogenicity Calculator, a configurable system and web service for the assessment of pathogenicity of Mendelian germline sequence variants. The system allows users to enter the applicable ACMG/AMP-style evidence tags for a specific allele with links to supporting data for each tag and generate guideline-based pathogenicity assessment for the allele. Through automation and comprehensive documentation of evidence codes, the system facilitates more accurate application of the ACMG/AMP guidelines, improves standardization in variant classification, and facilitates collaborative resolution of discordances. The rules of reasoning are configurable with gene-specific or disease-specific guideline variations (e.g. cardiomyopathy-specific frequency thresholds and functional assays). The software is modular, equipped with robust application program interfaces (APIs), and available under a free open source license and as a cloud-hosted web service, thus facilitating both stand-alone use and integration with existing variant curation and interpretation systems. The Pathogenicity Calculator is accessible at http

Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

KAUST Repository

Mineta, Katsuhiko

2015-05-01

The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

KAUST Repository

Mineta, Katsuhiko; Matsumoto, Tomotaka; Osada, Naoki; Araki, Hitoshi

2015-01-01

The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

Arthroplasty knee registry of Catalonia: What scientific evidence supports the implantation of our prosthesis?

Science.gov (United States)

Samaniego Alonso, R; Gaviria Parada, E; Pons Cabrafiga, M; Espallargues Carreras, M; Martinez Cruz, O

2018-02-28

In our environment, it is increasingly necessary to perform an activity based on scientific evidence and the field of prosthetic surgery should be governed by the same principles. The national arthroplasty registries allow us to obtain a large amount of data in order to evaluate this technique. The aim of our study is to analyse the scientific evidence that supports the primary total knee arthroplasties implanted in Catalonian public hospitals, based on the Arthoplasty Registry of Catalonia (RACat) MATERIAL AND METHODS: A review of the literature was carried out on knee prostheses (cruciate retaining, posterior stabilized, constricted and rotational) recorded in RACat between the period 2005-2013 in the following databases: Orthopedic Data Evaluation Panel, PubMed, TripDatabase and Google Scholar. The prostheses implanted in fewer than 10 units (1,358 prostheses corresponding to 62 models) were excluded. 41,947 prostheses (96.86%) were analysed out of 43,305 implanted, corresponding to 74 different models. In 13 models (n = 4,715) (11.24%) no clinical evidence to support their use was found. In the remaining 36 models (n = 13,609) (32.45%), level iv studies were the most predominant evidence. There was a significant number of implanted prostheses (11.24%) for which no clinical evidence was found. The number of models should be noted, 36 out of 110, with fewer than 10 units implanted. The use of arthroplasty registries has proved an extremely useful tool that allows us to analyse and draw conclusions in order to improve the efficiency of this surgical technique. Copyright © 2018 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

Genetic or pharmacological activation of the Drosophila PGC-1α ortholog spargel rescues the disease phenotypes of genetic models of Parkinson's disease.

Science.gov (United States)

Ng, Chee-Hoe; Basil, Adeline H; Hang, Liting; Tan, Royston; Goh, Kian-Leong; O'Neill, Sharon; Zhang, Xiaodong; Yu, Fengwei; Lim, Kah-Leong

2017-07-01

Despite intensive research, the etiology of Parkinson's disease (PD) remains poorly understood and the disease remains incurable. However, compelling evidence gathered over decades of research strongly support a role for mitochondrial dysfunction in PD pathogenesis. Related to this, PGC-1α, a key regulator of mitochondrial biogenesis, has recently been proposed to be an attractive target for intervention in PD. Here, we showed that silencing of expression of the Drosophila PGC-1α ortholog spargel results in PD-related phenotypes in flies and also seem to negate the effects of AMPK activation, which we have previously demonstrated to be neuroprotective, that is, AMPK-mediated neuroprotection appears to require PGC-1α. Importantly, we further showed that genetic or pharmacological activation of the Drosophila PGC-1α ortholog spargel is sufficient to rescue the disease phenotypes of Parkin and LRRK2 genetic fly models of PD, thus supporting the proposed use of PGC-1α-related strategies for neuroprotection in PD. Copyright © 2017 National Neuroscience Institute. Published by Elsevier Inc. All rights reserved.

Topology of genetic associations between regional gray matter volume and intellectual ability: Evidence for a high capacity network.

Science.gov (United States)

Bohlken, Marc M; Brouwer, Rachel M; Mandl, René C W; Hedman, Anna M; van den Heuvel, Martijn P; van Haren, Neeltje E M; Kahn, René S; Hulshoff Pol, Hilleke E

2016-01-01

Intelligence is associated with a network of distributed gray matter areas including the frontal and parietal higher association cortices and primary processing areas of the temporal and occipital lobes. Efficient information transfer between gray matter regions implicated in intelligence is thought to be critical for this trait to emerge. Genetic factors implicated in intelligence and gray matter may promote a high capacity for information transfer. Whether these genetic factors act globally or on local gray matter areas separately is not known. Brain maps of phenotypic and genetic associations between gray matter volume and intelligence were made using structural equation modeling of 3T MRI T1-weighted scans acquired in 167 adult twins of the newly acquired U-TWIN cohort. Subsequently, structural connectivity analyses (DTI) were performed to test the hypothesis that gray matter regions associated with intellectual ability form a densely connected core. Gray matter regions associated with intellectual ability were situated in the right prefrontal, bilateral temporal, bilateral parietal, right occipital and subcortical regions. Regions implicated in intelligence had high structural connectivity density compared to 10,000 reference networks (p=0.031). The genetic association with intelligence was for 39% explained by a genetic source unique to these regions (independent of total brain volume), this source specifically implicated the right supramarginal gyrus. Using a twin design, we show that intelligence is genetically represented in a spatially distributed and densely connected network of gray matter regions providing a high capacity infrastructure. Although genes for intelligence have overlap with those for total brain volume, we present evidence that there are genes for intelligence that act specifically on the subset of brain areas that form an efficient brain network. Copyright © 2015 Elsevier Inc. All rights reserved.

Genetic evidence for intra- and interspecific slavery in honey ants (genus Myrmecocystus).

Science.gov (United States)

Kronauer, D J C; Gadau, J; Hölldobler, B

2003-04-22

The New World honey ant species Myrmecocystus mimicus is well known for its highly stereotyped territorial tournaments, and for the raids on conspecific nests that can lead to intraspecific slavery. Our results from mitochondrial and nuclear markers show that the raided brood emerges in the raiding colony and is subsequently incorporated into the colony's worker force. We also found enslaved conspecifics in a second honey ant species, M. depilis, the sister taxon of M. mimicus, which occurs in sympatry with M. mimicus at the study site. Colonies of this species furthermore contained raided M. mimicus workers. Both species have an effective mating frequency that is not significantly different from 1. This study provides genetic evidence for facultative intra- and interspecific slavery in the genus Myrmecocystus. Slavery in ants has evolved repeatedly and supposedly by different means. We propose that, in honey ants, secondary contact between two closely related species that both exhibit intraspecific slavery gave rise to an early form of facultative interspecific slavery.

Genetic effects of nonionizing electromagnetic fields

International Nuclear Information System (INIS)

Lai, Henry

2001-01-01

Due to the increased use of electricity and wireless communication devices, there is a concern on whether exposure to nonionizing electromagnetic fields (50/60 Hz fields and radiofrequency radiation) can lead to harmful health effects, particularly, genetic effects and cancer development. This presentation will review recent research on genetic effects of power line frequency and radiofrequency electromagnetic fields. Even though the mechanism of interaction is still unknown, there is increasing evidence that these electromagnetic fields at low intensities can cause genetic damage in cells. There is also evidence suggesting that the effects are caused by oxidative stress. (author)

Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies.

Science.gov (United States)

Redlinger-Grosse, Krista; Veach, Patricia McCarthy; LeRoy, Bonnie S; Zierhut, Heather

2017-12-01

As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al., Journal of Genetic Counseling, 2015); and 2) genetic counselors' examples of successful and unsuccessful genetic counseling sessions (Geiser et al. 2009). Using directed content analysis, 337 unique strategies were extracted from focus group data. A Q-sort of the 337 strategies yielded 15 broader strategy domains that were then mapped to the successful and unsuccessful session examples. Differing prevalence of strategy domains identified in successful sessions versus the prevalence of domains identified as lacking in unsuccessful sessions provide further support for the REM goals. The most prevalent domains for successful sessions were Information Giving and Use Psychosocial Skills and Strategies; and for unsuccessful sessions, Information Giving and Establish Working Alliance. Identified strategies support the REM's reciprocal nature, especially with regard to addressing patients' informational and psychosocial needs. Patients' contributions to success (or lack thereof) of sessions was also noted, supporting a REM tenet that individual characteristics and the counselor-patient relationship are central to processes and outcomes. The elaborated REM could be used as a framework for certain graduate curricular objectives, and REM components could also inform process and outcomes research studies to document and further characterize genetic counselor strategies.

[Hypothetical link between endometriosis and xenobiotics-associated genetically modified food].

Science.gov (United States)

Aris, A; Paris, K

2010-12-01

Endometriosis is an oestrogen-dependent inflammatory disease affecting 10 % of reproductive-aged women. Often accompanied by chronic pelvic pain and infertility, endometriosis rigorously interferes with women's quality of life. Although the pathophysiology of endometriosis remains unclear, a growing body of evidence points to the implication of environmental toxicants. Over the last decade, an increase in the incidence of endometriosis has been reported and coincides with the introduction of genetically modified foods in our diet. Even though assessments of genetically modified food risk have not indicated any hazard on human health, xenobiotics-associated genetically modified food, such as pesticides residues and xenoproteins, could be harmful in the long-term. The "low-dose hypothesis", accumulation and biotransformation of pesticides-associated genetically modified food and the multiplied toxicity of pesticides-formulation adjuvants support this hypothesis. This review summarizes toxic effects (in vitro and on animal models) of some xenobiotics-associated genetically modified food, such as glyphosate and Cry1Ab protein, and extrapolates on their potential role in the pathophysiology of endometriosis. Their roles as immune toxicants, pro-oxidants, endocrine disruptors and epigenetic modulators are discussed. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Are behavioral differences among wild chimpanzee communities genetic or cultural? An assessment using tool-use data and phylogenetic methods.

Science.gov (United States)

Lycett, Stephen J; Collard, Mark; McGrew, William C

2010-07-01

Over the last 30 years it has become increasingly apparent that there are many behavioral differences among wild communities of Pan troglodytes. Some researchers argue these differences are a consequence of the behaviors being socially learned, and thus may be considered cultural. Others contend that the available evidence is too weak to discount the alternative possibility that the behaviors are genetically determined. Previous phylogenetic analyses of chimpanzee behavior have not supported the predictions of the genetic hypothesis. However, the results of these studies are potentially problematic because the behavioral sample employed did not include communities from central Africa. Here, we present the results of a study designed to address this shortcoming. We carried out cladistic analyses of presence/absence data pertaining to 19 tool-use behaviors in 10 different P. troglodytes communities plus an outgroup (P. paniscus). Genetic data indicate that chimpanzee communities in West Africa are well differentiated from those in eastern and central Africa, while the latter are not reciprocally monophyletic. Thus, we predicted that if the genetic hypothesis is correct, the tool-use data should mirror the genetic data in terms of structure. The three measures of phylogenetic structure we employed (the Retention Index, the bootstrap, and the Permutation Tail Probability Test) did not support the genetic hypothesis. They were all lower when all 10 communities were included than when the three western African communities are excluded. Hence, our study refutes the genetic hypothesis and provides further evidence that patterns of behavior in chimpanzees are the product of social learning and therefore meet the main condition for culture. (c) 2010 Wiley-Liss, Inc.

Genetic diversity within the morphological species Giardia intestinalis and its relationship to host origin.

Science.gov (United States)

Monis, Paul T; Andrews, Ross H; Mayrhofer, Graham; Ey, Peter L

2003-05-01

A genetic analysis of Giardia intestinalis, a parasitic protozoan species that is ubiquitous in mammals worldwide, was undertaken using organisms derived from a variety of mammalian hosts in different geographical locations. The test panel of 53 Giardia isolates comprised 48 samples of G. intestinalis, including representatives of all known genetic subgroups, plus an isolate of G. ardeae and four isolates of G. muris. The isolates were compared by allozymic analysis of electrophoretic data obtained for 21 cytosolic enzymes, representing 23 gene loci. Neighbour Joining analysis of the allelic profiles supported the monophyly of G. intestinalis but showed that the species encompasses a rich population substructure. Seven major clusters were evident within G. intestinalis, corresponding to lineages designated previously as genetic assemblages A-G. Some genotypes, e.g. those defining assemblage A, are found in divergent host species and may be zoonotic. However other genotypes, e.g. those defining assemblages C-G, appear to be confined to particular hosts or host groups. The findings reinforce other evidence that G. intestinalis, which was defined on the basis of morphological criteria only, is a species complex.

Sampling genetic diversity in the sympatrically and allopatrically speciating Midas cichlid species complex over a 16 year time series

Directory of Open Access Journals (Sweden)

Bunje Paul ME

2007-02-01

genetic diversity within lakes are minimal and provide no evidence for drastic changes during the last 20 years, supporting the hypothesis that the processes which have resulted in rapid speciation are primarily historical. In contrast, there is some evidence for ongoing evolution, particularly selection, in all lakes except crater Lake Masaya, perhaps reflecting the persistence of speciational processes. Importantly, we find that the crater Lake Apoyo population, for which strong evidence of sympatric speciation has been demonstrated, has lower genetic diversity than other crater lakes and the strongest evidence for ongoing selection.

Genetic architecture of the Delis-Kaplan Executive Function System Trail Making Test: evidence for distinct genetic influences on executive function.

Science.gov (United States)

Vasilopoulos, Terrie; Franz, Carol E; Panizzon, Matthew S; Xian, Hong; Grant, Michael D; Lyons, Michael J; Toomey, Rosemary; Jacobson, Kristen C; Kremen, William S

2012-03-01

To examine how genes and environments contribute to relationships among Trail Making Test (TMT) conditions and the extent to which these conditions have unique genetic and environmental influences. Participants included 1,237 middle-aged male twins from the Vietnam Era Twin Study of Aging. The Delis-Kaplan Executive Function System TMT included visual searching, number and letter sequencing, and set-shifting components. Phenotypic correlations among TMT conditions ranged from 0.29 to 0.60, and genes accounted for the majority (58-84%) of each correlation. Overall heritability ranged from 0.34 to 0.62 across conditions. Phenotypic factor analysis suggested a single factor. In contrast, genetic models revealed a single common genetic factor but also unique genetic influences separate from the common factor. Genetic variance (i.e., heritability) of number and letter sequencing was completely explained by the common genetic factor while unique genetic influences separate from the common factor accounted for 57% and 21% of the heritabilities of visual search and set shifting, respectively. After accounting for general cognitive ability, unique genetic influences accounted for 64% and 31% of those heritabilities. A common genetic factor, most likely representing a combination of speed and sequencing, accounted for most of the correlation among TMT 1-4. Distinct genetic factors, however, accounted for a portion of variance in visual scanning and set shifting. Thus, although traditional phenotypic shared variance analysis techniques suggest only one general factor underlying different neuropsychological functions in nonpatient populations, examining the genetic underpinnings of cognitive processes with twin analysis can uncover more complex etiological processes.

Genetically modified foods and allergy.

Science.gov (United States)

Lee, T H; Ho, H K; Leung, T F

2017-06-01

2015 marked the 25th anniversary of the commercial use and availability of genetically modified crops. The area of planted biotech crops cultivated globally occupies a cumulative two billion hectares, equivalent to twice the land size of China or the United States. Foods derived from genetically modified plants are widely consumed in many countries and genetically modified soybean protein is extensively used in processed foods throughout the industrialised countries. Genetically modified food technology offers a possible solution to meet current and future challenges in food and medicine. Yet there is a strong undercurrent of anxiety that genetically modified foods are unsafe for human consumption, sometimes fuelled by criticisms based on little or no firm evidence. This has resulted in some countries turning away food destined for famine relief because of the perceived health risks of genetically modified foods. The major concerns include their possible allergenicity and toxicity despite the vigorous testing of genetically modified foods prior to marketing approval. It is imperative that scientists engage the public in a constructive evidence-based dialogue to address these concerns. At the same time, improved validated ways to test the safety of new foods should be developed. A post-launch strategy should be established routinely to allay concerns. Mandatory labelling of genetically modified ingredients should be adopted for the sake of transparency. Such ingredient listing and information facilitate tracing and recall if required.

An imaging genetics approach to understanding social influence

Directory of Open Access Journals (Sweden)

Emily eFalk

2012-06-01

Full Text Available Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain’s reward system. We next review neuroimaging evidence linking social punishment (exclusion to brain systems involved in the experience of pain, as well as evidence linking exclusion to conformity. We suggest that genetic variants that increase sensitivity to social cues may predispose individuals to be more sensitive to either social rewards or punishments (or potentially both, which in turn increases conformity and susceptibility to normative social influences more broadly. To this end, we review evidence for genetic moderators of neurochemical responses in the brain, and suggest ways in which genes and pharmacology may modulate sensitivity to social influences. We conclude by proposing an integrative imaging genetics approach to the study of brain mediators and genetic modulators of a variety of social influences on human attitudes, beliefs, and actions.

An imaging genetics approach to understanding social influence.

Science.gov (United States)

Falk, Emily B; Way, Baldwin M; Jasinska, Agnes J

2012-01-01

Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain's reward system. We next review neuroimaging evidence linking social punishment (exclusion) to brain systems involved in the experience of pain, as well as evidence linking exclusion to conformity. We suggest that genetic variants that increase sensitivity to social cues may predispose individuals to be more sensitive to either social rewards or punishments (or potentially both), which in turn increases conformity and susceptibility to normative social influences more broadly. To this end, we review evidence for genetic moderators of neurochemical responses in the brain, and suggest ways in which genes and pharmacology may modulate sensitivity to social influences. We conclude by proposing an integrative imaging genetics approach to the study of brain mediators and genetic modulators of a variety of social influences on human attitudes, beliefs, and actions.

Protein and mRNA levels support the notion that a genetic regulatory circuit controls growth phases in E. coli populations

Directory of Open Access Journals (Sweden)

Agustino Martinez-Antonio

2015-09-01

Full Text Available Bacterial populations transition between growing and non-growing phases, based on nutrient availability and stresses conditions. The hallmark of a growing state is anabolism, including DNA replication and cell division. In contrast, bacteria in a growth-arrested state acquire a resistant physiology and diminished metabolism. However, there is little knowledge on how this transition occurs at the molecular level. Here, we provide new evidence that a multi-element genetic regulatory circuit might work to maintain genetic control among growth-phase transitions in Escherichia coli. This work contributes to the discovering of design principles behind the performance of biological functions, which could be of relevance on the new disciplines of biological engineering and synthetic biology.

Understanding the impact of genetic testing for inherited retinal dystrophy.

Science.gov (United States)

Combs, Ryan; McAllister, Marion; Payne, Katherine; Lowndes, Jo; Devery, Sophie; Webster, Andrew R; Downes, Susan M; Moore, Anthony T; Ramsden, Simon; Black, Graeme; Hall, Georgina

2013-11-01

The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees' views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy.

Cannabis Controversies: How genetics can inform the study of comorbidity

Science.gov (United States)

Agrawal, Arpana; Lynskey, Michael T.

2014-01-01

Aims To review three key and controversial comorbidities of cannabis use – other illicit drug use, psychosis and depression as well as suicide, from a genetically informed perspective. Design Selective review. Results Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Conclusions Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. PMID:24438181

Soft sensor development and optimization of the commercial petrochemical plant integrating support vector regression and genetic algorithm

Directory of Open Access Journals (Sweden)

S.K. Lahiri

2009-09-01

Full Text Available Soft sensors have been widely used in the industrial process control to improve the quality of the product and assure safety in the production. The core of a soft sensor is to construct a soft sensing model. This paper introduces support vector regression (SVR, a new powerful machine learning methodbased on a statistical learning theory (SLT into soft sensor modeling and proposes a new soft sensing modeling method based on SVR. This paper presents an artificial intelligence based hybrid soft sensormodeling and optimization strategies, namely support vector regression – genetic algorithm (SVR-GA for modeling and optimization of mono ethylene glycol (MEG quality variable in a commercial glycol plant. In the SVR-GA approach, a support vector regression model is constructed for correlating the process data comprising values of operating and performance variables. Next, model inputs describing the process operating variables are optimized using genetic algorithm with a view to maximize the process performance. The SVR-GA is a new strategy for soft sensor modeling and optimization. The major advantage of the strategies is that modeling and optimization can be conducted exclusively from the historic process data wherein the detailed knowledge of process phenomenology (reaction mechanism, kinetics etc. is not required. Using SVR-GA strategy, a number of sets of optimized operating conditions were found. The optimized solutions, when verified in an actual plant, resulted in a significant improvement in the quality.

Genetic and neurobiological aspects of attention deficit hyperactive disorder: a review.

OpenAIRE

Hechtman, L

1994-01-01

This paper reviews key studies that have addressed genetic and neurobiological aspects in attention deficit hyperactive disorder. Genetic studies can be divided into three distinct types: twin, adoption, and family studies. Evidence for a particular mode of inheritance and the possible specific genetic abnormalities are also explored. There is strong evidence of genetic involvement in this condition, although a clear-cut mode of inheritance and specific genetic abnormalities are yet to be det...

Evidence-informed health policy 3 - interviews with the directors of organizations that support the use of research evidence.

Science.gov (United States)

Lavis, John N; Oxman, Andrew D; Moynihan, Ray; Paulsen, Elizabeth J

2008-12-17

Only a small number of previous efforts to describe the experiences of organizations that produce clinical practice guidelines (CPGs), undertake health technology assessments (HTAs), or directly support the use of research evidence in developing health policy (i.e., government support units, or GSUs) have relied on interviews and then only with HTA agencies. Interviews offer the potential for capturing experiences in great depth, particularly the experiences of organizations that may be under-represented in surveys. We purposively sampled organizations from among those who completed a questionnaire in the first phase of our three-phase study, developed and piloted a semi-structured interview guide, and conducted the interviews by telephone, audio-taped them, and took notes simultaneously. Binary or categorical responses to more structured questions were counted when possible. Themes were identified from among responses to semi-structured questions using a constant comparative method of analysis. Illustrative quotations were identified to supplement the narrative description of the themes. We interviewed the director (or his or her nominee) in 25 organizations, of which 12 were GSUs. Using rigorous methods that are systematic and transparent (sometimes shortened to 'being evidence-based') was the most commonly cited strength among all organizations. GSUs more consistently described their close links with policymakers as a strength, whereas organizations producing CPGs, HTAs, or both had conflicting viewpoints about such close links. With few exceptions, all types of organizations tended to focus largely on weaknesses in implementation, rather than strengths. The advice offered to those trying to establish similar organizations include: 1) collaborate with other organizations; 2) establish strong links with policymakers and stakeholders; 3) be independent and manage conflicts of interest; 4) build capacity; 5) use good methods and be transparent; 6) start small and

Statistical aspects of forensic genetics

DEFF Research Database (Denmark)

Tvedebrink, Torben

This PhD thesis deals with statistical models intended for forensic genetics, which is the part of forensic medicine concerned with analysis of DNA evidence from criminal cases together with calculation of alleged paternity and affinity in family reunification cases. The main focus of the thesis...... is on crime cases as these differ from the other types of cases since the biological material often is used for person identification contrary to affinity. Common to all cases, however, is that the DNA is used as evidence in order to assess the probability of observing the biological material given different...... of the DNA evidence under competing hypotheses the biological evidence may be used in the court’s deliberation and trial on equal footing with other evidence and expert statements. These probabilities are based on population genetic models whose assumptions must be validated. The thesis’s first two articles...

Decision Support from Genetic Algorithms for Ship Collision Avoidance Route Planning and Alerts

Science.gov (United States)

Tsou, Ming-Cheng; Kao, Sheng-Long; Su, Chien-Min

When an officer of the watch (OOW) faces complicated marine traffic, a suitable decision support tool could be employed in support of collision avoidance decisions, to reduce the burden and greatly improve the safety of marine traffic. Decisions on routes to avoid collisions could also consider economy as well as safety. Through simulating the biological evolution model, this research adopts the genetic algorithm used in artificial intelligence to find a theoretically safety-critical recommendation for the shortest route of collision avoidance from an economic viewpoint, combining the international regulations for preventing collisions at sea (COLREGS) and the safety domain of a ship. Based on this recommendation, an optimal safe avoidance turning angle, navigation restoration time and navigational restoration angle will also be provided. A Geographic Information System (GIS) will be used as the platform for display and operation. In order to achieve advance notice of alerts and due preparation for collision avoidance, a Vessel Traffic Services (VTS) operator and the OOW can use this system as a reference to assess collision avoidance at present location.

Working group reports: Evaluation of the evidence to support practice guidelines for nutritional care of preterm infants-the Pre-B Project

Science.gov (United States)

The "Evaluation of the Evidence to Support Practice Guidelines for the Nutritional Care of Preterm Infants: The Pre-B Project" is the first phase in a process to present the current state of knowledge and to support the development of evidence-informed guidance for the nutritional care of preterm an...

Equity and Blindness: Closing Evidence Gaps to Support Universal Eye Health.

Science.gov (United States)

Ramke, Jacqueline; Zwi, Anthony B; Palagyi, Anna; Blignault, Ilse; Gilbert, Clare E

2015-01-01

The World Health Organization Program for the Prevention of Blindness adopted the principles of universal health coverage (UHC) in its latest plan, Universal Eye Health: A Global Action Plan, 2014-2019. This plan builds on the achievements of Vision 2020, which aimed to reduce the global prevalence of avoidable blindness, and its unequal distribution, by the year 2020. We reviewed the literature on health equity and the generation and use of evidence to promote equity, particularly in eye health. We describe the nature and extent of the equity-focused evidence to support and inform eye health programs on the path to universal eye health, and propose ways to improve the collection and reporting of this evidence. Blindness prevalence decreased in all regions of the world between 1990 and 2010, albeit not at the same rate or to the same extent. In 2010, the prevalence of blindness in West Africa (6.0%) remained 15 times higher than in high-income regions (0.4%); within all regions, women had a higher prevalence of blindness than men. Beyond inter-regional and sex differences, there is little comparable data on the distribution of blindness across social groups within regions and countries, or on whether this distribution has changed over time. Similarly, interventions known to address inequity in blindness are few, and equity-relevant goals, targets and indicators for eye health programs are scarce. Equity aims of eye health programs can benefit from the global momentum towards achieving UHC, and the progress being made on collecting, communicating and using equity-focused evidence.

Analysis of Evidence Supporting the Educational Leadership Constituent Council 2011 Educational Leadership Program Standards

Science.gov (United States)

Tucker, Pamela D.; Anderson, Erin; Reynolds, Amy L.; Mawhinney, Hanne

2016-01-01

This document analysis provides a summary of the research from high-impact journals published between 2008 and 2013 with the explicit purpose of determining the extent to which the current empirical evidence supports the individual 2011 Educational Leadership Constituent Council Program Standards and their elements. We found that the standards are…

Genetic data provide evidence for wind-mediated transmission of highly pathogenic avian influenza.

Science.gov (United States)

Ypma, Rolf J F; Jonges, Marcel; Bataille, Arnaud; Stegeman, Arjan; Koch, Guus; van Boven, Michiel; Koopmans, Marion; van Ballegooijen, W Marijn; Wallinga, Jacco

2013-03-01

Outbreaks of highly pathogenic avian influenza in poultry can cause severe economic damage and represent a public health threat. Development of efficient containment measures requires an understanding of how these influenza viruses are transmitted between farms. However, the actual mechanisms of interfarm transmission are largely unknown. Dispersal of infectious material by wind has been suggested, but never demonstrated, as a possible cause of transmission between farms. Here we provide statistical evidence that the direction of spread of avian influenza A(H7N7) is correlated with the direction of wind at date of infection. Using detailed genetic and epidemiological data, we found the direction of spread by reconstructing the transmission tree for a large outbreak in the Netherlands in 2003. We conservatively estimate the contribution of a possible wind-mediated mechanism to the total amount of spread during this outbreak to be around 18%.

Genetics education in the nursing profession: literature review.

Science.gov (United States)

Burke, Sarah; Kirk, Maggie

2006-04-01

This paper reports a literature review exploring genetics education for nursing professionals. The aim was to contribute to the debate about the future direction of such education. Advances in genetics science and technology have profound implications for health care and the growing importance and relevance of genetics for everyday nursing practice is increasingly recognized. A search was conducted in February 2005 using the CINAHL and Google Scholar databases and the keywords nurse, midwife, health visitor, education and genetics. Papers were included if they were published in English between 1994 and 2005 and included empirical data about genetics education in nursing. In addition, attempts were made to access the grey literature, with requests for information on research, for example, to members of the Association of Genetic Nurses and Counsellors and searches of relevant websites. Agreement on the relevance of genetics for nursing practice is extensive. Empirical evidence of the learning needs of practitioners highlights widespread deficits in knowledge and skills, and low confidence levels. Provision of nursing education in genetics is patchy and insubstantial across a number of countries, further hampered by lack of strategic development. Significant progress has been made in the identification of learning outcomes for nurses. Research on the delivery of genetics education is limited, but the role of skills-based training, use of clinical scenarios, and importance of assessment have all been identified as factors that can promote learning. Whilst areas of good performance were revealed, many studies identified gaps in professional competence and/or education. New initiatives are underway to support genetics education and its integration into professional practice, but further research is needed on the most effective forms of educational delivery, and an international collaborative approach to this should be considered.

Integration of evidence-based practice in bedside teaching paediatrics supported by e-learning.

Science.gov (United States)

Potomkova, Jarmila; Mihal, Vladimir; Zapletalova, Jirina; Subova, Dana

2010-03-01

Bedside teaching with evidence-based practice elements, supported by e-learning activities, can play an important role in modern medical education. Teachers have to incorporate evidence from the medical literature to increase student motivation and interactivity. An integral part of the medical curricula at Palacky University Olomouc (Czech Republic) are real paediatric scenarios supplemented with a review of current literature to enhance evidence-based bedside teaching & learning. Searching for evidence is taught through librarian-guided interactive hands-on sessions and/or web-based tutorials followed by clinical case presentations and feedback. Innovated EBM paediatric clerkship demonstrated students' preferences towards web-based interactive bedside teaching & learning. In two academic years (2007/2008, 2008/2009), learning-focused feedback from 106 and 131 students, resp. was obtained about their attitudes towards evidence-based bedside teaching. The assessment included among others the overall level of instruction, quality of practical evidence-based training, teacher willingness and impact of instruction on increased interest in the specialty. There was some criticism about excessive workload. A parallel survey was carried out on the perceived values of different forms of information skills training (i.e. demonstration, online tutorials, and librarian-guided interactive search sessions) and post-training self-reported level of search skills. The new teaching/learning paediatric portfolio is a challenge for further activities, including effective knowledge translation, continuing medical & professional development of teachers, and didactic, clinically integrated teaching approaches.

COMBINATION OF GENETIC ALGORITHM AND DEMPSTER-SHAFER THEORY OF EVIDENCE FOR LAND COVER CLASSIFICATION USING INTEGRATION OF SAR AND OPTICAL SATELLITE IMAGERY

Directory of Open Access Journals (Sweden)

H. T. Chu

2012-07-01

Full Text Available The integration of different kinds of remotely sensed data, in particular Synthetic Aperture Radar (SAR and optical satellite imagery, is considered a promising approach for land cover classification because of the complimentary properties of each data source. However, the challenges are: how to fully exploit the capabilities of these multiple data sources, which combined datasets should be used and which data processing and classification techniques are most appropriate in order to achieve the best results. In this paper an approach, in which synergistic use of a feature selection (FS methods with Genetic Algorithm (GA and multiple classifiers combination based on Dempster-Shafer Theory of Evidence, is proposed and evaluated for classifying land cover features in New South Wales, Australia. Multi-date SAR data, including ALOS/PALSAR, ENVISAT/ASAR and optical (Landsat 5 TM+ images, were used for this study. Textural information were also derived and integrated with the original images. Various combined datasets were generated for classification. Three classifiers, namely Artificial Neural Network (ANN, Support Vector Machines (SVMs and Self-Organizing Map (SOM were employed. Firstly, feature selection using GA was applied for each classifier and dataset to determine the optimal input features and parameters. Then the results of three classifiers on particular datasets were combined using the Dempster-Shafer theory of Evidence. Results of this study demonstrate the advantages of the proposed method for land cover mapping using complex datasets. It is revealed that the use of GA in conjunction with the Dempster-Shafer Theory of Evidence can significantly improve the classification accuracy. Furthermore, integration of SAR and optical data often outperform single-type datasets.

Evidence Supporting an Early as Well as Late Heavy Bombardment on the Moon

Science.gov (United States)

Frey, Herbert

2015-01-01

Evidence supporting an intense early bombardment on the Moon in addition to the traditional Late Heavy Bombardment at approx. 4 BY ago include the distribution of N(50) Crater Retention Ages (CRAs) for candidate basins, a variety of absolute age scenarios for both a "young" and an "old" Nectaris age, and the decreasing contrasts in both topographic relief and Bouguer gravity with increasing CRA.

Genetics education for health professionals: strategies and outcomes from a national initiative in the United Kingdom.

Science.gov (United States)

Farndon, Peter A; Bennett, Catherine

2008-04-01

The National Health Service (NHS) National Genetics Education and Development Centre was established by the Department of Health in 2004 to help drive and co-ordinate genetics education for health professionals working outside specialist genetic services. This paper reviews the experiences and lessons learned to date. At the outset, it was clear that understanding the learning ethos, preferred delivery methods and attitudes towards genetics of different NHS healthcare groups was vital. We collected evidence by undertaking needs assessments with educators, practitioners and patients. We have determined the genetics knowledge, skills and attitudes which they said were needed and translated these into learning outcomes and workforce competences in a continuum of education. Beginning with core concepts introduced (and examined) pre-registration, the continuum continues with development of concepts post-registration as appropriate for role, leading to practical application and assessment of competences in the workplace. These are supported by a portfolio of resources which draw heavily on patient based scenarios to demonstrate to staff that genetics is relevant to their work, and to convince educators and policy makers that genetic education is likely to result in real clinical benefit. A long term educational policy, inclusive of learners, educationalists and their institutions must be evidence based, flexible and responsive to changes in workforce structure, provision of clinical services and conceptual and financial commitments to education. The engagement of national policy, regulatory and professional bodies is vital (www.geneticseducation.nhs.uk).

What Ancestry Can Tell Us About the Genetic Origins of Inter-Ethnic Differences in Asthma Expression.

Science.gov (United States)

Hernandez-Pacheco, Natalia; Flores, Carlos; Oh, Sam S; Burchard, Esteban G; Pino-Yanes, Maria

2016-07-01

Differences in asthma prevalence have been described across different populations, suggesting that genetic ancestry can play an important role in this disease. In fact, several studies have demonstrated an association between African ancestry with increased asthma susceptibility and severity, higher immunoglobulin E levels, and lower lung function. In contrast, Native American ancestry has been shown to have a protective role for this disease. Genome-wide association studies have allowed the identification of population-specific genetic variants with varying allele frequency among populations. Additionally, the correlation of genetic ancestry at the chromosomal level with asthma and related traits by means of admixture mapping has revealed regions of the genome where ancestry is correlated with the disease. In this review, we discuss the evidence supporting the association of genetic ancestry with asthma susceptibility and asthma-related traits, and highlight the regions of the genome harboring ancestry-specific genetic risk factors.

Population genetic segmentation of MHC-correlated perfume preferences.

Science.gov (United States)

Hämmerli, A; Schweisgut, C; Kaegi, M

2012-04-01

It has become difficult to find a matching perfume. An overwhelming number of 300 new perfumes launch each year, and marketing campaigns target pre-defined groups based on gender, age or income rather than on individual preferences. Recent evidence for a genetic basis of perfume preferences, however, could be the starting point for a novel population genetic approach to better match perfumes with people's preferences. With a total of 116 participants genotyped for alleles of three loci of the major histocompatibility complex (MHC), the aim of this study was to test whether common MHC alleles could be used as genetic markers to segment a given population into preference types. Significant deviations from random expectations for a set of 10 common perfume ingredients indicate how such segmentation could be achieved. In addition, preference patterns of participants confronted with images that contained a sexual communication context significantly differed in their ratings for some of the scents compared with participants confronted with images of perfume bottles. This strongly supports the assumption that genetically correlated perfume preferences evolved in the context of sexual communication. The results are discussed in the light of perfume customization. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

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

Science.gov (United States)

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

Hippocampal declarative memory supports gesture production: Evidence from amnesia.

Science.gov (United States)

Hilverman, Caitlin; Cook, Susan Wagner; Duff, Melissa C

2016-12-01

Spontaneous co-speech hand gestures provide a visuospatial representation of what is being communicated in spoken language. Although it is clear that gestures emerge from representations in memory for what is being communicated (De Ruiter, 1998; Wesp, Hesse, Keutmann, & Wheaton, 2001), the mechanism supporting the relationship between gesture and memory is unknown. Current theories of gesture production posit that action - supported by motor areas of the brain - is key in determining whether gestures are produced. We propose that when and how gestures are produced is determined in part by hippocampally-mediated declarative memory. We examined the speech and gesture of healthy older adults and of memory-impaired patients with hippocampal amnesia during four discourse tasks that required accessing episodes and information from the remote past. Consistent with previous reports of impoverished spoken language in patients with hippocampal amnesia, we predicted that these patients, who have difficulty generating multifaceted declarative memory representations, may in turn have impoverished gesture production. We found that patients gestured less overall relative to healthy comparison participants, and that this was particularly evident in tasks that may rely more heavily on declarative memory. Thus, gestures do not just emerge from the motor representation activated for speaking, but are also sensitive to the representation available in hippocampal declarative memory, suggesting a direct link between memory and gesture production. Copyright © 2016 Elsevier Ltd. All rights reserved.

Cytoplasmic-genetic male sterility gene provides direct evidence for some hybrid rice recently evolving into weedy rice

Science.gov (United States)

Zhang, Jingxu; Lu, Zuomei; Dai, Weimin; Song, Xiaoling; Peng, Yufa; Valverde, Bernal E.; Qiang, Sheng

2015-01-01

Weedy rice infests paddy fields worldwide at an alarmingly increasing rate. There is substantial evidence indicating that many weedy rice forms originated from or are closely related to cultivated rice. There is suspicion that the outbreak of weedy rice in China may be related to widely grown hybrid rice due to its heterosis and the diversity of its progeny, but this notion remains unsupported by direct evidence. We screened weedy rice accessions by both genetic and molecular marker tests for the cytoplasmic male sterility (CMS) genes (Wild abortive, WA, and Boro type, BT) most widely used in the production of indica and japonica three-line hybrid rice as a diagnostic trait of direct parenthood. Sixteen weedy rice accessions of the 358 tested (4.5%) contained the CMS-WA gene; none contained the CMS-BT gene. These 16 accessions represent weedy rices recently evolved from maternal hybrid rice derivatives, given the primarily maternal inheritance of this trait. Our results provide key direct evidence that hybrid rice can be involved in the evolution of some weedy rice accessions, but is not a primary factor in the recent outbreak of weedy rice in China. PMID:26012494

Cytoplasmic-genetic male sterility gene provides direct evidence for some hybrid rice recently evolving into weedy rice.

Science.gov (United States)

Zhang, Jingxu; Lu, Zuomei; Dai, Weimin; Song, Xiaoling; Peng, Yufa; Valverde, Bernal E; Qiang, Sheng

2015-05-27

Weedy rice infests paddy fields worldwide at an alarmingly increasing rate. There is substantial evidence indicating that many weedy rice forms originated from or are closely related to cultivated rice. There is suspicion that the outbreak of weedy rice in China may be related to widely grown hybrid rice due to its heterosis and the diversity of its progeny, but this notion remains unsupported by direct evidence. We screened weedy rice accessions by both genetic and molecular marker tests for the cytoplasmic male sterility (CMS) genes (Wild abortive, WA, and Boro type, BT) most widely used in the production of indica and japonica three-line hybrid rice as a diagnostic trait of direct parenthood. Sixteen weedy rice accessions of the 358 tested (4.5%) contained the CMS-WA gene; none contained the CMS-BT gene. These 16 accessions represent weedy rices recently evolved from maternal hybrid rice derivatives, given the primarily maternal inheritance of this trait. Our results provide key direct evidence that hybrid rice can be involved in the evolution of some weedy rice accessions, but is not a primary factor in the recent outbreak of weedy rice in China.

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

NARCIS (Netherlands)

Geelen, E.; Horstman, K.; Marcelis, C.L.; Doevendans, P.A.; Van Hoyweghen, I.

2012-01-01

Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic

Genetic and linguistic coevolution in Northern Island Melanesia.

Science.gov (United States)

Hunley, Keith; Dunn, Michael; Lindström, Eva; Reesink, Ger; Terrill, Angela; Healy, Meghan E; Koki, George; Friedlaender, Françoise R; Friedlaender, Jonathan S

2008-10-01

Recent studies have detailed a remarkable degree of genetic and linguistic diversity in Northern Island Melanesia. Here we utilize that diversity to examine two models of genetic and linguistic coevolution. The first model predicts that genetic and linguistic correspondences formed following population splits and isolation at the time of early range expansions into the region. The second is analogous to the genetic model of isolation by distance, and it predicts that genetic and linguistic correspondences formed through continuing genetic and linguistic exchange between neighboring populations. We tested the predictions of the two models by comparing observed and simulated patterns of genetic variation, genetic and linguistic trees, and matrices of genetic, linguistic, and geographic distances. The data consist of 751 autosomal microsatellites and 108 structural linguistic features collected from 33 Northern Island Melanesian populations. The results of the tests indicate that linguistic and genetic exchange have erased any evidence of a splitting and isolation process that might have occurred early in the settlement history of the region. The correlation patterns are also inconsistent with the predictions of the isolation by distance coevolutionary process in the larger Northern Island Melanesian region, but there is strong evidence for the process in the rugged interior of the largest island in the region (New Britain). There we found some of the strongest recorded correlations between genetic, linguistic, and geographic distances. We also found that, throughout the region, linguistic features have generally been less likely to diffuse across population boundaries than genes. The results from our study, based on exceptionally fine-grained data, show that local genetic and linguistic exchange are likely to obscure evidence of the early history of a region, and that language barriers do not particularly hinder genetic exchange. In contrast, global patterns may

Genetic and linguistic coevolution in Northern Island Melanesia.

Directory of Open Access Journals (Sweden)

Keith Hunley

2008-10-01

Full Text Available Recent studies have detailed a remarkable degree of genetic and linguistic diversity in Northern Island Melanesia. Here we utilize that diversity to examine two models of genetic and linguistic coevolution. The first model predicts that genetic and linguistic correspondences formed following population splits and isolation at the time of early range expansions into the region. The second is analogous to the genetic model of isolation by distance, and it predicts that genetic and linguistic correspondences formed through continuing genetic and linguistic exchange between neighboring populations. We tested the predictions of the two models by comparing observed and simulated patterns of genetic variation, genetic and linguistic trees, and matrices of genetic, linguistic, and geographic distances. The data consist of 751 autosomal microsatellites and 108 structural linguistic features collected from 33 Northern Island Melanesian populations. The results of the tests indicate that linguistic and genetic exchange have erased any evidence of a splitting and isolation process that might have occurred early in the settlement history of the region. The correlation patterns are also inconsistent with the predictions of the isolation by distance coevolutionary process in the larger Northern Island Melanesian region, but there is strong evidence for the process in the rugged interior of the largest island in the region (New Britain. There we found some of the strongest recorded correlations between genetic, linguistic, and geographic distances. We also found that, throughout the region, linguistic features have generally been less likely to diffuse across population boundaries than genes. The results from our study, based on exceptionally fine-grained data, show that local genetic and linguistic exchange are likely to obscure evidence of the early history of a region, and that language barriers do not particularly hinder genetic exchange. In contrast

METEOR: An Enterprise Health Informatics Environment to Support Evidence-Based Medicine.

Science.gov (United States)

Puppala, Mamta; He, Tiancheng; Chen, Shenyi; Ogunti, Richard; Yu, Xiaohui; Li, Fuhai; Jackson, Robert; Wong, Stephen T C

2015-12-01

The aim of this paper is to propose the design and implementation of next-generation enterprise analytics platform developed at the Houston Methodist Hospital (HMH) system to meet the market and regulatory needs of the healthcare industry. For this goal, we developed an integrated clinical informatics environment, i.e., Methodist environment for translational enhancement and outcomes research (METEOR). The framework of METEOR consists of two components: the enterprise data warehouse (EDW) and a software intelligence and analytics (SIA) layer for enabling a wide range of clinical decision support systems that can be used directly by outcomes researchers and clinical investigators to facilitate data access for the purposes of hypothesis testing, cohort identification, data mining, risk prediction, and clinical research training. Data and usability analysis were performed on METEOR components as a preliminary evaluation, which successfully demonstrated that METEOR addresses significant niches in the clinical informatics area, and provides a powerful means for data integration and efficient access in supporting clinical and translational research. METEOR EDW and informatics applications improved outcomes, enabled coordinated care, and support health analytics and clinical research at HMH. The twin pressures of cost containment in the healthcare market and new federal regulations and policies have led to the prioritization of the meaningful use of electronic health records in the United States. EDW and SIA layers on top of EDW are becoming an essential strategic tool to healthcare institutions and integrated delivery networks in order to support evidence-based medicine at the enterprise level.

Evidence supporting the use of cone-beam computed tomography in orthodontics.

Science.gov (United States)

van Vlijmen, Olivier J C; Kuijpers, Mette A R; Bergé, Stefaan J; Schols, Jan G J H; Maal, Thomas J J; Breuning, Hero; Kuijpers-Jagtman, Anne Marie

2012-03-01

The authors conducted a systematic review of cone-beam computed tomography (CBCT) applications in orthodontics and evaluated the level of evidence to determine whether the use of CBCT is justified in orthodontics. The authors identified articles by searching the Cochrane Library, PubMed, MEDLINE, Embase, Scopus and Cumulative Index to Nursing and Allied Health Literature databases. They searched the articles' reference lists manually for additional articles and had no language limitations. They did not search the gray literature. Inclusion criteria were CBCT use in orthodontics and that the participants be human. The lowest level of evidence accepted for inclusion was a case series with five or more participants. The authors evaluated the studies' methodological quality according to 13 criteria related to study design, measurements and statistical analysis. The authors identified 550 articles, and 50 met the inclusion criteria. Study topics included temporary anchorage devices, cephalometry, combined orthodontic and surgical treatment, airway measurements, root resorption and tooth impactions, and cleft lip and palate. The methodological quality averaged 53 percent (range, 15-77 percent) of the maximum score. The authors found no high-quality evidence regarding the benefits of CBCT use in orthodontics. Limited evidence shows that CBCT offers better diagnostic potential, leads to better treatment planning or results in better treatment outcome than do conventional imaging modalities. Only the results of studies on airway diagnostics provided sound scientific data suggesting that CBCT use has added value. The additional radiation exposure should be weighed against possible benefits of CBCT, which have not been supported in the literature. In future studies, investigators should evaluate the effects of CBCT on treatment procedures, progression and outcome quantitatively.

Genetics and developmental biology of cooperation

Czech Academy of Sciences Publication Activity Database

Kasper, C.; Vierbuchen, M.; Ernst, Ulrich R.; Fischer, S.; Radersma, R.; Raulo, A.; Cunha-Saraiva, F.; Wu, M.; Mobley, K. B.; Taborsky, B.

2017-01-01

Roč. 26, č. 17 (2017), s. 4364-4377 ISSN 0962-1083 Institutional support: RVO:61388963 Keywords : altruism * behaviour * indirect genetic effects * social behaviour * social effects Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 6.086, year: 2016

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

Science.gov (United States)

Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M

2017-06-01

As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.

The genetics of radiation-induced and sporadic osteosarcoma: a unifying theory?

International Nuclear Information System (INIS)

Rosemann, Michael; Kuosaite, Virginija; Nathrath, Michaela; Atkinson, Michael J.

2002-01-01

Cancer is a disease of the genome, with the neoplastic phenotype being passed from one cell generation to the other. Radiation-induced cancer has often been considered to represent a unique entity amongst neoplasia, with the energy deposition being held responsible for both direct (gene mutations) and indirect (bystander effects, induced instability etc) alterations to the cellular genome. However, radiogenic tumours in man and experimental animals appear to be physiologically and genetically indistinguishable from their sporadic counterparts, suggesting that the aetiologies of these two tumour types are in fact closely related. We have conducted a general screen of the genetic alterations in radiation-induced mouse osteosarcoma, a tumour that is histopathologically indistinguishable from human sporadic osteosarcoma. Comparison of the two tumour types indicates the existence of a common set of genetic changes, providing additional evidence to support the concept that the molecular pathology of radiation-induced malignancy is no different to that of sporadic cancers. (author)

A multi-site randomised controlled trial of evidence-based supported employment for adults with severe and persistent mental illness.

Science.gov (United States)

Waghorn, Geoffrey; Dias, Shannon; Gladman, Beverley; Harris, Meredith; Saha, Sukanta

2014-12-01

The Individual Placement and Support (IPS) approach is an evidence-based form of supported employment for people with severe and persistent mental illness. This approach is not yet widely available in Australia even though there is mounting evidence of its generalisability outside the USA. One previous Australian randomised controlled trial found that IPS is effective for young people with first episode psychosis. The aim of the current trial was to assess the effectiveness of evidence-based supported employment when implemented for Australian adult consumers of public mental health services by utilising existing service systems. A four-site randomised control trial design (n = 208) was conducted in Brisbane (two sites), Townsville and Cairns. The intervention consisted of an IPS supported employment service hosted by a community mental health team. The control condition was delivered at each site by mental health teams referring consumers to other disability employment services in the local area. At 12 months, those in the IPS condition had 2.4 times greater odds of commencing employment than those in the control condition (42.5% vs. 23.5%). The conditions did not differ on secondary employment outcomes including job duration, hours worked, or job diversity. Attrition was higher than expected in both conditions with 28.4% completing the baseline interview but taking no further part in the study. The results support previous international findings that IPS-supported employment is more effective than non-integrated supported employment. IPS can be successfully implemented this way in Australia, but with a loss of effect strength compared to previous USA trials. © 2014 Occupational Therapy Australia.

Genomic and cranial phenotype data support multiple modern human dispersals from Africa and a southern route into Asia.

Science.gov (United States)

Reyes-Centeno, Hugo; Ghirotto, Silvia; Détroit, Florent; Grimaud-Hervé, Dominique; Barbujani, Guido; Harvati, Katerina

2014-05-20

Despite broad consensus on Africa as the main place of origin for anatomically modern humans, their dispersal pattern out of the continent continues to be intensely debated. In extant human populations, the observation of decreasing genetic and phenotypic diversity at increasing distances from sub-Saharan Africa has been interpreted as evidence for a single dispersal, accompanied by a series of founder effects. In such a scenario, modern human genetic and phenotypic variation was primarily generated through successive population bottlenecks and drift during a rapid worldwide expansion out of Africa in the Late Pleistocene. However, recent genetic studies, as well as accumulating archaeological and paleoanthropological evidence, challenge this parsimonious model. They suggest instead a "southern route" dispersal into Asia as early as the late Middle Pleistocene, followed by a separate dispersal into northern Eurasia. Here we test these competing out-of-Africa scenarios by modeling hypothetical geographical migration routes and assessing their correlation with neutral population differentiation, as measured by genetic polymorphisms and cranial shape variables of modern human populations from Africa and Asia. We show that both lines of evidence support a multiple-dispersals model in which Australo-Melanesian populations are relatively isolated descendants of an early dispersal, whereas other Asian populations are descended from, or highly admixed with, members of a subsequent migration event.

Genetic Determinants of Cardio-Metabolic Risk: A Proposed Model for Phenotype Association and Interaction

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2012-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus it follows that the genetics of dyslipidemia, obesity, and non-alcoholic fatty liver (NAFLD) disease are central in triggering progression of the syndrome to overt expression of disease traits, and have become a key focus of interest for early detection and for designing prevention and treatments. To support the “birds’ eye view” approach we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacological targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. PMID:23351585

Neonatal non-invasive respiratory support: synchronised NIPPV, non-synchronised NIPPV or bi-level CPAP: what is the evidence in 2013?

Science.gov (United States)

Roberts, C T; Davis, P G; Owen, L S

2013-01-01

Nasal continuous positive airway pressure (NCPAP) has proven to be an effective mode of non-invasive respiratory support in preterm infants; however, many infants still require endotracheal ventilation, placing them at an increased risk of morbidities such as bronchopulmonary dysplasia. Several other modes of non-invasive respiratory support beyond NCPAP, including synchronised and non-synchronised nasal intermittent positive pressure ventilation (SNIPPV and nsNIPPV) and bi-level positive airway pressure (BiPAP) are now also available. These techniques require different approaches, and the exact mechanisms by which they act remain unclear. SNIPPV has been shown to reduce the rate of reintubation in comparison to NCPAP when used as post-extubation support, but the evidence for nsNIPPV and BiPAP in this context is less convincing. There is some evidence that NIPPV (whether synchronised or non-synchronised) used as primary respiratory support is beneficial, but the variation in study methodology makes this hard to translate confidently into clinical practice. There is currently no evidence to suggest a reduction in mortality or important morbidities such as bronchopulmonary dysplasia, with NIPPV or BiPAP in comparison to NCPAP, and there is a lack of appropriately designed studies in this area. This review discusses the different approaches and proposed mechanisms of action of SNIPPV, nsNIPPV and BiPAP, the challenges of applying the available evidence for these distinct modalities of non-invasive respiratory support to clinical practice, and possible areas of future research. © 2013 S. Karger AG, Basel.

A potential third Manta Ray species near the Yucat?n Peninsula? Evidence for a recently diverged and novel genetic Manta group from the Gulf of Mexico

OpenAIRE

Hinojosa-Alvarez, Silvia; Walter, Ryan P.; Diaz-Jaimes, Pindaro; Galv?n-Maga?a, Felipe; Paig-Tran, E. Misty

2016-01-01

We present genetic and morphometric support for a third, distinct, and recently diverged group of Manta ray that appears resident to the Yucatán coastal waters of the Gulf of Mexico. Individuals of the genus Manta from Isla Holbox are markedly different from the other described manta rays in their morphology, habitat preference, and genetic makeup. Herein referred to as the Yucatán Manta Ray, these individuals form two genetically distinct groups: (1) a group of mtDNA haplotypes divergent (0....

Social Support and Supervisory Quality Interventions in the Workplace: A Stakeholder-Centered Best-Evidence Synthesis of Systematic Reviews on Work Outcomes

Directory of Open Access Journals (Sweden)

SL Wagner

2015-10-01

Full Text Available Background: There is controversy surrounding the impact of workplace interventions aimed at improving social support and supervisory quality on absenteeism, productivity and financial outcomes. Objective: To determine the value of social support interventions for work outcomes. Methods: Databases were searched for systematic reviews between 2000 and 2012 to complete a synthesis of systematic reviews guided by the PRISMA statement and the IOM guidelines for systematic reviews. Assessment of articles for inclusion and methodological quality was conducted independently by at least two researchers, with differences resolved by consensus. Results: The search resulted in 3363 titles of which 3248 were excluded following title/abstract review, leaving 115 articles that were retrieved and underwent full article review. 10 articles met the set inclusion criteria, with 7 focusing on social support, 2 on supervisory quality and 1 on both. We found moderate and limited evidence, respectively, that social support and supervisory quality interventions positively impact workplace outcomes. Conclusion: There is moderate evidence that social support and limited evidence that supervisory quality interventions have a positive effect on work outcomes.

Social Support and Supervisory Quality Interventions in the Workplace: A Stakeholder-Centered Best-Evidence Synthesis of Systematic Reviews on Work Outcomes.

Science.gov (United States)

Wagner, S L; White, M I; Schultz, I Z; Williams-Whitt, K; Koehn, C; Dionne, C E; Koehoorn, M; Harder, H G; Pasca, R; Wärje, O; Hsu, V; McGuire, L; Lama, I; Schulz, W; Kube, D; Wright, M D

2015-10-01

There is controversy surrounding the impact of workplace interventions aimed at improving social support and supervisory quality on absenteeism, productivity and financial outcomes. To determine the value of social support interventions for work outcomes. Databases were searched for systematic reviews between 2000 and 2012 to complete a synthesis of systematic reviews guided by the PRISMA statement and the IOM guidelines for systematic reviews. Assessment of articles for inclusion and methodological quality was conducted independently by at least two researchers, with differences resolved by consensus. The search resulted in 3363 titles of which 3248 were excluded following title/abstract review, leaving 115 articles that were retrieved and underwent full article review. 10 articles met the set inclusion criteria, with 7 focusing on social support, 2 on supervisory quality and 1 on both. We found moderate and limited evidence, respectively, that social support and supervisory quality interventions positively impact workplace outcomes. There is moderate evidence that social support and limited evidence that supervisory quality interventions have a positive effect on work outcomes.

Genetic evidence of subaortic stenosis in the Newfoundland dog.

Science.gov (United States)

Reist-Marti, S B; Dolf, G; Leeb, T; Kottmann, S; Kietzmann, S; Butenhoff, K; Rieder, S

2012-06-09

Subaortic stenosis (SAS) is a cardiac disorder with a narrowing of the descending aorta below the left ventricular outflow tract of the heart. It occurs in several species and breeds. The Newfoundland is one of the dog breeds where it is more common and usually leads to death at early adulthood. It is still discussed to which extent SAS has a genetic background and what its mode of inheritance could be. Extensive pedigree data comprising more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis were analysed for genetic factors influencing SAS affection. The incidence and prevalence of SAS in the analysed Newfoundland population sample were much higher than those reported in previous studies on smaller population samples. Assuming that some SAS-affected dogs remained undiscovered or were not reported, these figures may even be underestimated. SAS-affected Newfoundland dogs were more often inbred and closer related to each other than unaffected dogs, which is an indicator for a genetic background of SAS. The sex had no significant impact on SAS affectedness, pointing at an autosomal inheritance. The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes.

Investigation assessing the publicly available evidence supporting postmarketing withdrawals, revocations and suspensions of marketing authorisations in the EU since 2012

Science.gov (United States)

Lynn, Elizabeth; Shakir, Saad

2018-01-01

Objectives To assess the sources of publicly available evidence supporting withdrawal, revocation or suspension of marketing authorisations (‘regulatory actions’) due to safety reasons in the EU since 2012 and to investigate the time taken since initial marketing authorisation to reach these regulatory decisions. Setting This investigation examined the sources of evidence supporting 18 identified prescription medicinal products which underwent regulatory action due to safety reasons within the EU in the period 1 July 2012 to 31 December 2016. Results Eighteen single or combined active substances (‘medicinal products’) withdrawn, revoked or suspended within the EU for safety reasons between 2012 and 2016 met the inclusion criteria. Case reports were most commonly cited, supporting 94.4% of regulatory actions (n=17), followed by randomised controlled trial, meta-analyses, animal and in vitro, ex vivo or in silico study designs, each cited in 72.2% of regulatory actions (n=13). Epidemiological study designs were least commonly cited (n=8, 44.4%). Multiple sources of evidence contributed to 94.4% of regulatory decisions (n=17). Death was the most common adverse drug reaction leading to regulatory action (n=5; 27.8%), with four of these related to medication error or overdose. Median (IQR) time taken to reach a decision from the start of regulatory review was found to be 204.5 days (143, 535 days) and decreased across the study period. Duration of marketing prior to regulatory action, from the medicinal product’s authorisation date, increased across the period 2012–2016. Conclusions The sources of evidence supporting pharmacovigilance regulatory activities appear to have changed since implementation of Directive 2010/84/EU and Regulation (EU) No. 1235/2010. This, together with a small improvement in regulatory efficiency, suggests progress towards more rapid regulatory decisions based on more robust evidence. Future research should continue to monitor

Applications of the Chaotic Quantum Genetic Algorithm with Support Vector Regression in Load Forecasting

Directory of Open Access Journals (Sweden)

Cheng-Wen Lee

2017-11-01

Full Text Available Accurate electricity forecasting is still the critical issue in many energy management fields. The applications of hybrid novel algorithms with support vector regression (SVR models to overcome the premature convergence problem and improve forecasting accuracy levels also deserve to be widely explored. This paper applies chaotic function and quantum computing concepts to address the embedded drawbacks including crossover and mutation operations of genetic algorithms. Then, this paper proposes a novel electricity load forecasting model by hybridizing chaotic function and quantum computing with GA in an SVR model (named SVRCQGA to achieve more satisfactory forecasting accuracy levels. Experimental examples demonstrate that the proposed SVRCQGA model is superior to other competitive models.

Genetic influences on political ideologies

DEFF Research Database (Denmark)

Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert

2014-01-01

Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60 % of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant...... paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine...... different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly...

Human genetics of diabetic vascular complications

Indian Academy of Sciences (India)

Diabetic vascular complications (DVC) affecting several important organ systems of human body such as the cardiovascular system constitute a major public health problem. There is evidence demonstrating that genetic factors contribute to the risk of DVC genetic variants, structural variants, and epigenetic changes play ...

First evidence of genetic intraspecific variability and occurrence of Entamoeba gingivalis in HIV(+/AIDS.

Directory of Open Access Journals (Sweden)

Sibeli B S Cembranelli

Full Text Available Entamoeba gingivalis is considered an oral commensal but demonstrates a pathogenic potential associated with periodontal disease in immunocompromised individuals. Therefore, this study evaluated the occurrence, opportunistic conditions, and intraspecific genetic variability of E. gingivalis in HIV(+/AIDS patients. Entamoeba gingivalis was studied using fresh examination (FE, culture, and PCR from bacterial plaque samples collected from 82 HIV(+/AIDS patients. Genetic characterization of the lower ribosomal subunit of region 18S (18S-SSU rRNA was conducted in 9 positive samples using low-stringency single specific primer PCR (LSSP-PCR and sequencing analysis. Entamoeba gingivalis was detected in 63.4% (52/82 of the samples. No association was detected between the presence of E. gingivalis and the CD4(+ lymphocyte count (≤200 cells/mm(3 (p = 0.912 or viral load (p = 0.429. The LSSP-PCR results helped group E. gingivalis populations into 2 polymorphic groups (68.3% similarity: group I, associated with 63.6% (7/11 of the samples, and group II, associated with 36.4% (4/11 of the samples, which shared 74% and 83.7% similarity and association with C and E isolates from HIV(- individuals, respectively. Sequencing of 4 samples demonstrated 99% identity with the reference strain ATCC 30927 and also showed 2 divergent clusters, similar to those detected by LSSP-PCR. Opportunistic behavior of E. gingivalis was not detected, which may be related to the use of highly active antiretroviral therapy by all HIV(+/AIDS patients. The high occurrence of E. gingivalis in these patients can be influenced by multifactorial components not directly related to the CD4(+ lymphocyte counts, such as cholesterol and the oral microbiota host, which could mask the potential opportunistic ability of E. gingivalis. The identification of the 18S SSU-rRNA polymorphism by LSSP-PCR and sequencing analysis provides the first evidence of genetic variability in E. gingivalis

Morphological, physiological, and genetic variation between metallicolous and nonmetallicolous populations of Dianthus carthusianorum.

Science.gov (United States)

Wójcik, Małgorzata; Dresler, Sławomir; Jawor, Emilia; Kowalczyk, Krzysztof; Tukiendorf, Anna

2013-01-01

Waste deposits produced by metal mining and smelting activities provide extremely difficult habitats for plant colonization and growth. Therefore, plants spontaneously colonizing such areas represent a very interesting system for studying evolution of plant adaptation and population differentiation between contaminated and noncontaminated environments. In this study, two populations of Dianthus carthusianorum, one originating from Zn-Pb waste deposit (a metallicolous population, M) and the other from unpolluted soil (a nonmetallicolous population, NM), were analyzed in respect of their morphological and physiological traits as well as genetic markers. It was found that the plants inhabiting the waste heap differed significantly from the NM plants in terms of leaf size and shape, and these differences were persistent between the first generation of the plants of both populations cultivated under uniform, controlled laboratory conditions. In contrast with the evident morphological differences, no significant differentiation between the populations regarding the physiological traits measured (accumulation of proline, anthocyanins, chlorophyll, carotenoids) was found. These traits can be regarded as neither population specific nor stress markers. The genetic variability was analyzed using 17 random amplified polymorphic DNA (RAPD) and four inter simple sequence repeat (ISSR) markers; this proved that the differentiation between the M and NM populations exists also at the genetic level. Analysis of molecular variance (AMOVA) showed that 24% of the total genetic diversity resided among populations, while 76% - within the populations. However, no significant differences in intrapopulation genetic diversity (Hj) between the M and NM populations of D. carthusianorum was found, which contradicts the theory that acquisition of adaptation mechanisms to adverse, isolated growth habitats is related to reduction in genetic diversity. Distinct genetic differences between the two

A Genetic Algorithm Based Support Vector Machine Model for Blood-Brain Barrier Penetration Prediction

Directory of Open Access Journals (Sweden)

Daqing Zhang

2015-01-01

Full Text Available Blood-brain barrier (BBB is a highly complex physical barrier determining what substances are allowed to enter the brain. Support vector machine (SVM is a kernel-based machine learning method that is widely used in QSAR study. For a successful SVM model, the kernel parameters for SVM and feature subset selection are the most important factors affecting prediction accuracy. In most studies, they are treated as two independent problems, but it has been proven that they could affect each other. We designed and implemented genetic algorithm (GA to optimize kernel parameters and feature subset selection for SVM regression and applied it to the BBB penetration prediction. The results show that our GA/SVM model is more accurate than other currently available log BB models. Therefore, to optimize both SVM parameters and feature subset simultaneously with genetic algorithm is a better approach than other methods that treat the two problems separately. Analysis of our log BB model suggests that carboxylic acid group, polar surface area (PSA/hydrogen-bonding ability, lipophilicity, and molecular charge play important role in BBB penetration. Among those properties relevant to BBB penetration, lipophilicity could enhance the BBB penetration while all the others are negatively correlated with BBB penetration.

Genetics of dietary habits and obesity - a twin study

DEFF Research Database (Denmark)

Hasselbalch, Ann Louise

2010-01-01

residual genetic influence existed. Based on information about habitual diet from the FFQ the genetic influence on total energy intake, macronutrient intake, as well as intake of energy from 20 food groups, was estimated. The proportion of variation in dietary intake explained by variation in genes...... exposures as well as genetic differences between individuals, resulting in differentiated susceptibility to environmental exposures. The evidence for genetic influence on anthropometry has previously been established and has been estimated to be 60-70% based on twin studies. These inter...... mass, but only limited evidence for associations between habitual dietary intake and anthropometry exists. Differences in habitual dietary intake are also partly determined by differences in genes influencing smell and taste preferences. But, so far, only few studies have investigated genetic...

Studies in genetic discrimination. Final progress report

Energy Technology Data Exchange (ETDEWEB)

1994-06-01

We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

Genetic determinants of cardiometabolic risk: a proposed model for phenotype association and interaction.

Science.gov (United States)

Blackett, Piers R; Sanghera, Dharambir K

2013-01-01

This review provides a translational and unifying summary of metabolic syndrome genetics and highlights evidence that genetic studies are starting to unravel and untangle origins of the complex and challenging cluster of disease phenotypes. The associated genes effectively express in the brain, liver, kidney, arterial endothelium, adipocytes, myocytes, and β cells. Progression of syndrome traits has been associated with ectopic lipid accumulation in the arterial wall, visceral adipocytes, myocytes, and liver. Thus, it follows that the genetics of dyslipidemia, obesity, and nonalcoholic fatty liver disease are central in triggering progression of the syndrome to overt expression of disease traits and have become a key focus of interest for early detection and for designing prevention and treatments. To support the "birds' eye view" approach, we provide a road-map depicting commonality and interrelationships between the traits and their genetic and environmental determinants based on known risk factors, metabolic pathways, pharmacologic targets, treatment responses, gene networks, pleiotropy, and association with circadian rhythm. Although only a small portion of the known heritability is accounted for and there is insufficient support for clinical application of gene-based prediction models, there is direction and encouraging progress in a rapidly moving field that is beginning to show clinical relevance. Copyright © 2013 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Cats of the Pharaohs: Genetic Comparison of Egyptian Cat Mummies to their Feline Contemporaries

Science.gov (United States)

Kurushima, Jennifer D.; Ikram, Salima; Knudsen, Joan; Bleiberg, Edward; Grahn, Robert A.; Lyons, Leslie A.

2012-01-01

The ancient Egyptians mummified an abundance of cats during the Late Period (664 - 332 BC). The overlapping morphology and sizes of developing wildcats and domestic cats confounds the identity of mummified cat species. Genetic analyses should support mummy identification and was conducted on two long bones and a mandible of three cats that were mummified by the ancient Egyptians. The mummy DNA was extracted in a dedicated ancient DNA laboratory at the University of California – Davis, then directly sequencing between 246 and 402 bp of the mtDNA control region from each bone. When compared to a dataset of wildcats (Felis silvestris silvestris, F. s. tristrami, and F. chaus) as well as a previously published worldwide dataset of modern domestic cat samples, including Egypt, the DNA evidence suggests the three mummies represent common contemporary domestic cat mitotypes prevalent in modern Egypt and the Middle East. Divergence estimates date the origin of the mummies’ mitotypes to between two and 7.5 thousand years prior to their mummification, likely prior to or during Egyptian Predyanstic and Early Dynastic Periods. These data are the first genetic evidence supporting that the ancient Egyptians used domesticated cats, F. s. catus, for votive mummies, and likely implies cats were domesticated prior to extensive mummification of cats. PMID:22923880

Genetic and Antigenic Evidence Supports the Separation of Hepatozoon canis and Hepatozoon americanum at the Species Level

OpenAIRE

Baneth, Gad; Barta, John R.; Shkap, Varda; Martin, Donald S.; Macintire, Douglass K.; Vincent-Johnson, Nancy

2000-01-01

Recognition of Hepatozoon canis and Hepatozoon americanum as distinct species was supported by the results of Western immunoblotting of canine anti-H. canis and anti-H. americanum sera against H. canis gamonts. Sequence analysis of 368 bases near the 3′ end of the 18S rRNA gene from each species revealed a pairwise difference of 13.59%.

ProVac Global Initiative: a vision shaped by ten years of supporting evidence-based policy decisions.

Science.gov (United States)

Jauregui, Barbara; Janusz, Cara Bess; Clark, Andrew D; Sinha, Anushua; Garcia, Ana Gabriela Felix; Resch, Stephen; Toscano, Cristiana M; Sanderson, Colin; Andrus, Jon Kim

2015-05-07

The Pan American Health Organization (PAHO) created the ProVac Initiative in 2004 with the goal of strengthening national technical capacity to make evidence-based decisions on new vaccine introduction, focusing on economic evaluations. In view of the 10th anniversary of the ProVac Initiative, this article describes its progress and reflects on lessons learned to guide the next phase. We quantified the output of the Initiative's capacity-building efforts and critically assess its progress toward achieving the milestones originally proposed in 2004. Additionally, we reviewed how country studies supported by ProVac have directly informed and strengthened the deliberations around new vaccine introduction. Since 2004, ProVac has conducted four regional workshops and supported 24 health economic analyses in 15 Latin American and Caribbean countries. Five Regional Centers of Excellence were funded, resulting in six operational research projects and nine publications. Twenty four decisions on new vaccine introductions were supported with ProVac studies. Enduring products include the TRIVAC and CERVIVAC cost-effectiveness models, the COSTVAC program costing model, methodological guides, workshop training materials and the OLIVES on-line data repository. Ten NITAGs were strengthened through ProVac activities. The evidence accumulated suggests that initiatives with emphasis on sustainable training and direct support for countries to generate evidence themselves, can help accelerate the introduction of the most valuable new vaccines. International and Regional Networks of Collaborators are necessary to provide technical support and tools to national teams conducting analyses. Timeliness, integration, quality and country ownership of the process are four necessary guiding principles for national economic evaluations to have an impact on policymaking. It would be an asset to have a model that offers different levels of complexity to choose from depending on the vaccine being

A Scaffolding Framework to Support the Construction of Evidence-Based Arguments among Middle School Students

Science.gov (United States)

Belland, Brian R.; Glazewski, Krista D.; Richardson, Jennifer C.

2008-01-01

Problem-based learning (PBL) is an instructional approach in which students in small groups engage in an authentic, ill-structured problem, and must (1) define, generate and pursue learning issues to understand the problem, (2) develop a possible solution, (3) provide evidence to support their solution, and (4) present their solution and the…

Epidemiology and etiology of Parkinson's disease: a review of the evidence.

Science.gov (United States)

Wirdefeldt, Karin; Adami, Hans-Olov; Cole, Philip; Trichopoulos, Dimitrios; Mandel, Jack

2011-06-01

The etiology of Parkinson's disease (PD) is not well understood but likely to involve both genetic and environmental factors. Incidence and prevalence estimates vary to a large extent-at least partly due to methodological differences between studies-but are consistently higher in men than in women. Several genes that cause familial as well as sporadic PD have been identified and familial aggregation studies support a genetic component. Despite a vast literature on lifestyle and environmental possible risk or protection factors, consistent findings are few. There is compelling evidence for protective effects of smoking and coffee, but the biologic mechanisms for these possibly causal relations are poorly understood. Uric acid also seems to be associated with lower PD risk. Evidence that one or several pesticides increase PD risk is suggestive but further research is needed to identify specific compounds that may play a causal role. Evidence is limited on the role of metals, other chemicals and magnetic fields. Important methodological limitations include crude classification of exposure, low frequency and intensity of exposure, inadequate sample size, potential for confounding, retrospective study designs and lack of consistent diagnostic criteria for PD. Studies that assessed possible shared etiological components between PD and other diseases show that REM sleep behavior disorder and mental illness increase PD risk and that PD patients have lower cancer risk, but methodological concerns exist. Future epidemiologic studies of PD should be large, include detailed quantifications of exposure, and collect information on environmental exposures as well as genetic polymorphisms.

Pleistocene glacial refugia across the Appalachian Mountains and coastal plain in the millipede genus Narceus: Evidence from population genetic, phylogeographic, and paleoclimatic data

Science.gov (United States)

Walker, Matt J; Stockman, Amy K; Marek, Paul E; Bond, Jason E

2009-01-01

Background Species that are widespread throughout historically glaciated and currently non-glaciated areas provide excellent opportunities to investigate the role of Pleistocene climatic change on the distribution of North American biodiversity. Many studies indicate that northern animal populations exhibit low levels of genetic diversity over geographically widespread areas whereas southern populations exhibit relatively high levels. Recently, paleoclimatic data have been combined with niche-based distribution modeling to locate possible refugia during the Last Glacial Maximum. Using phylogeographic, population, and paleoclimatic data, we show that the distribution and mitochondrial data for the millipede genus Narceus are consistent with classical examples of Pleistocene refugia and subsequent post-glacial population expansion seen in other organismal groups. Results The phylogeographic structure of Narceus reveals a complex evolutionary history with signatures of multiple refugia in southeastern North America followed by two major northern expansions. Evidence for refugial populations were found in the southern Appalachian Mountains and in the coastal plain. The northern expansions appear to have radiated from two separate refugia, one from the Gulf Coastal Plain area and the other from the mid-Atlantic coastal region. Distributional models of Narceus during the Last Glacial Maximum show a dramatic reduction from the current distribution, with suitable ecological zones concentrated along the Gulf and Atlantic coastal plain. We found a strong correlation between these zones of ecological suitability inferred from our paleo-model with levels of genetic diversity derived from phylogenetic and population estimates of genetic structuring. Conclusion The signature of climatic change, during and after the Pleistocene, on the distribution of the millipede genus Narceus is evident in the genetic data presented. Niche-based historical distribution modeling strengthens the

Genetics of nonsyndromic obesity.

Science.gov (United States)

Lee, Yung Seng

2013-12-01

Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

Genetic and Antigenic Evidence Supports the Separation of Hepatozoon canis and Hepatozoon americanum at the Species Level

Science.gov (United States)

Baneth, Gad; Barta, John R.; Shkap, Varda; Martin, Donald S.; Macintire, Douglass K.; Vincent-Johnson, Nancy

2000-01-01

Recognition of Hepatozoon canis and Hepatozoon americanum as distinct species was supported by the results of Western immunoblotting of canine anti-H. canis and anti-H. americanum sera against H. canis gamonts. Sequence analysis of 368 bases near the 3′ end of the 18S rRNA gene from each species revealed a pairwise difference of 13.59%. PMID:10699047

[Genetic expertise and the penal process].

Science.gov (United States)

Choclán Montalvo, J A

1998-01-01

The author reflects on the major forensic biology issues related to human genome analysis. He also discusses, from the comparative law perspective, the extent to which genetic test evidence is binding on judges. He concludes with a discussion of the influence of genetic research on people's fundamental rights.

An evidence-based approach to perioperative nutrition support in the elective surgery patient.

Science.gov (United States)

Miller, Keith R; Wischmeyer, Paul E; Taylor, Beth; McClave, Stephen A

2013-09-01

In surgical practice, great attention is given to the perioperative management of the elective surgical patient with regard to surgical planning, stratification of cardiopulmonary risk, and postoperative assessment for complication. However, growing evidence supports the beneficial role for implementation of a consistent and literature-based approach to perioperative nutrition therapy. Determining nutrition risk should be a routine component of the preoperative evaluation. As with the above issues, this concept begins with the clinician's first visit with the patient as risk is assessed and the severity of the surgical insult considered. If the patient is an appropriate candidate for benefit from preoperative support, a plan for initiation and reassessment should be implemented. Once appropriate nutrition end points have been achieved, special consideration should be given to beneficial practices the immediate day preceding surgery that may better prepare the patient for the intervention from a metabolic standpoint. In the operating room, consideration should be given to the potential placement of enteral access during the index operation as well as judicious and targeted intraoperative resuscitation. Immediately following the intervention, adequate resuscitation and glycemic control are key concepts, as is an evidence-based approach to the early advancement of an enteral/oral diet in the postoperative patient. Through the implementation of perioperative nutrition therapy plans in the elective surgery setting, outcomes can be improved.

Historical Processes and Contemporary Anthropogenic Activities Influence Genetic Population Dynamics of Nassau Grouper (Epinephelus striatus within The Bahamas

Directory of Open Access Journals (Sweden)

Krista D. Sherman

2017-12-01

Full Text Available Severe declines of endangered Nassau grouper (Epinephelus striatus across The Bahamas and Caribbean have spurred efforts to improve their fisheries management and population conservation. The Bahamas is reported to hold the majority of fish spawning aggregations for Nassau grouper, however, the status and genetic population structure of fish within the country is largely unknown, presenting a major knowledge gap for their sustainable management. Between August 2014–February 2017, 464 individual Nassau grouper sampled from The Bahamas were genotyped using 15 polymorphic microsatellite loci to establish measures of population structure, genetic diversity and effective population size (Ne. Nassau grouper were characterized by mostly high levels of genetic diversity, but we found no evidence for geographic population structure. Microsatellite analyses revealed weak, but significant genetic differentiation of Nassau grouper throughout the Bahamian archipelago (Global FST 0.00236, p = 0.0001. Temporal analyses of changes in Ne over the last 1,000 generations provide evidence in support of a pronounced historic decline in Bahamian Nassau grouper that appears to pre-date anthropogenic fishing activities. M-ratio results corroborate significant reductions in Ne throughout The Bahamas, with evidence for population bottlenecks in three islands and an active fish spawning aggregation along with apparent signs of inbreeding at two islands. Current estimates of Ne for Nassau grouper are considerably lower compared with historic levels. These findings represent important new contributions to our understanding of the evolutionary history, demographics and genetic connectivity of this endangered species, which are of critical importance for advancing their sustainable management.

Additional Interventions to Enhance the Effectiveness of Individual Placement and Support: A Rapid Evidence Assessment

Directory of Open Access Journals (Sweden)

Naomi Boycott

2012-01-01

Full Text Available Topic. Additional interventions used to enhance the effectiveness of individual placement and support (IPS. Aim. To establish whether additional interventions improve the vocational outcomes of IPS alone for people with severe mental illness. Method. A rapid evidence assessment of the literature was conducted for studies where behavioural or psychological interventions have been used to supplement standard IPS. Published and unpublished empirical studies of IPS with additional interventions were considered for inclusion. Conclusions. Six published studies were found which compared IPS alone to IPS plus a supplementary intervention. Of these, three used skills training and three used cognitive remediation. The contribution of each discrete intervention is difficult to establish. Some evidence suggests that work-related social skills and cognitive training are effective adjuncts, but this is an area where large RCTs are required to yield conclusive evidence.

Genetic and Environmental Architecture of Changes in Episodic Memory from Middle to Late Middle Age

Science.gov (United States)

Panizzon, Matthew S.; Neale, Michael C.; Docherty, Anna R.; Franz, Carol E.; Jacobson, Kristen C.; Toomey, Rosemary; Xian, Hong; Vasilopoulos, Terrie; Rana, Brinda K.; McKenzie, Ruth M.; Lyons, Michael J.; Kremen, William S.

2015-01-01

Episodic memory is a complex construct at both the phenotypic and genetic level. Ample evidence supports age-related cognitive stability and change being accounted for by general and domain-specific factors. We hypothesized that general and specific factors would underlie change even within this single cognitive domain. We examined six measures from three episodic memory tests in a narrow age cohort at middle and late middle age. The factor structure was invariant across occasions. At both timepoints two of three test-specific factors (story recall, design recall) had significant genetic influences independent of the general memory factor. Phenotypic stability was moderate to high, and primarily accounted for by genetic influences, except for one test-specific factor (list learning). Mean change over time was nonsignificant for one test-level factor; one declined; one improved. The results highlight the phenotypic and genetic complexity of memory and memory change, and shed light on an understudied period of life. PMID:25938244

Origin of microbial life: Nano- and molecular events, thermodynamics/entropy, quantum mechanisms and genetic instructions.

Science.gov (United States)

Trevors, J T

2011-03-01

Currently, there are no agreed upon mechanisms and supporting evidence for the origin of the first microbial cells on the Earth. However, some hypotheses have been proposed with minimal supporting evidence and experimentation/observations. The approach taken in this article is that life originated at the nano- and molecular levels of biological organization, using quantum mechanic principles that became manifested as classical microbial cell(s), allowing the origin of microbial life on the Earth with a core or minimal, organic, genetic code containing the correct instructions for cell(s) for growth and division, in a micron dimension environment, with a local entropy range conducive to life (present about 4 billion years ago), and obeying the laws of thermodynamics. An integrated approach that explores all encompassing factors necessary for the origin of life, may bring forth plausible hypotheses (and mechanisms) with much needed supporting experimentation and observations for an origin of life theory. Copyright © 2010 Elsevier B.V. All rights reserved.

GENETIC ASPECTS OF AUTISM

Directory of Open Access Journals (Sweden)

Anastas LAKOSKI

1997-06-01

Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Science.gov (United States)

Gausden, E; Coyle, B; Armour, J A; Coffey, R; Grossman, A; Fraser, G R; Winter, R M; Pembrey, M E; Kendall-Taylor, P; Stephens, D; Luxon, L M; Phelps, P D; Reardon, W; Trembath, R

1997-02-01

Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4. To define the critical linkage interval for Pendred syndrome we have studied five kindreds, each with members affected by Pendred syndrome. All families support linkage to the chromosome 7 region, defined by the microsatellite markers D7S501-D7S523. Detailed haplotype analysis refines the Pendred syndrome linkage interval to a region flanked by the marker loci D7S501 and D7S525, separated by a genetic distance estimated to be 2.5 cM. As potential candidate genes have as yet not been mapped to this interval, these data will contribute to a positional cloning approach for the identification of the Pendred syndrome gene.

Shifting mindsets: a realist synthesis of evidence from self-management support training.

Science.gov (United States)

Davies, Freya; Wood, Fiona; Bullock, Alison; Wallace, Carolyn; Edwards, Adrian

2018-03-01

Accompanying the growing expectation of patient self-management is the need to ensure health care professionals (HCPs) have the required attitudes and skills to provide effective self-management support (SMS). Results from existing training interventions for HCPs in SMS have been mixed and the evidence base is weaker for certain settings, including supporting people with progressive neurological conditions (PNCs). We set out to understand how training operates, and to identify barriers and facilitators to training designed to support shifts in attitudes amongst HCPs. We undertook a realist literature synthesis focused on: (i) the influence of how HCPs, teams and organisations view and adopt self-management; and (ii) how SMS needs to be tailored for people with PNCs. A traditional database search strategy was used alongside citation tracking, grey literature searching and stakeholder recommendations. We supplemented PNC-specific literature with data from other long-term conditions. Key informant interviews and stakeholder advisory group meetings informed the synthesis process. Realist context-mechanism-outcome configurations were generated and mapped onto the stages described in Mezirow's Transformative Learning Theory. Forty-four original articles were included (19 relating to PNCs), from which seven refined theories were developed. The theories identified important training elements (evidence provision, building skills and confidence, facilitating reflection and generating empathy). The significant influence of workplace factors as possible barriers or facilitators was highlighted. Embracing SMS often required challenging traditional professional role boundaries. The integration of SMS into routine care is not an automatic outcome from training. A transformative learning process is often required to trigger the necessary mindset shift. Training should focus on how individual HCPs define and value SMS and how their work context (patient group and organisational

Genetic epidemiology of hypertension: an update on the African diaspora.

Science.gov (United States)

Daniel, Harold I; Rotimi, Charles N

2003-01-01

Hypertension is a serious global public health problem, affecting approximately 600 million people worldwide. The lifetime risk of developing the condition exceeds 50% in most populations. Despite considerable success in the pharmacological treatment of hypertension in all-human populations, the health-care community still lacks understanding of how and why individuals develop chronically elevated blood pressure. This gap in knowledge, and the high prevalence of hypertension and associated complications in some populations of African descent, have led some to conclude that hypertension is a "different disease" in people of African descent. Despite considerable evidence from epidemiologic studies showing that blood pressure distribution in populations of the African diaspora spans the known spectrum for all human populations, theories in support of unique "defects" among populations of African descent continue to gain wide acceptance. To date, no known environmental factors or genetic variants relevant to the pathophysiology of human hypertension have been found to be unique to Black populations. However, available genetic epidemiologic data demonstrate differential distributions of risk factors that are consistent with current environmental and geographic origins. This review summarizes the available evidence and demonstrates that as the exposure to known risk factors for hypertension (eg, excess consumption of salt and calories, stress, sedentary lifestyle, and degree of urbanization) increases among genetically susceptible individuals, the prevalence of hypertension and associated complications also increases across populations of the African diaspora. This observation is true for all human populations.

Response to Infliximab in Crohn’s Disease: Genetic Analysis Supporting Expression Profile

Directory of Open Access Journals (Sweden)

Luz María Medrano

2015-01-01

Full Text Available Substantial proportion of Crohn’s disease (CD patients shows no response or a limited response to treatment with infliximab (IFX and to identify biomarkers of response would be of great clinical and economic benefit. The expression profile of five genes (S100A8-S100A9, G0S2, TNFAIP6, and IL11 reportedly predicted response to IFX and we aimed at investigating their etiologic role through genetic association analysis. Patients with active CD (350 who received at least three induction doses of IFX were included and classified according to IFX response. A tagging strategy was used to select genetic polymorphisms that cover the variability present in the chromosomal regions encoding the identified genes with altered expression. Following genotyping, differences between responders and nonresponders to IFX were observed in haplotypes of the studied regions: S100A8-S100A9 (rs11205276*G/rs3014866*C/rs724781*C/rs3006488*A; P=0.05; G0S2 (rs4844486*A/rs1473683*T; P=0.15; TNFAIP6 (rs11677200*C/rs2342910*A/rs3755480*G/rs10432475*A; P=0.10; and IL11 (rs1126760*C/rs1042506*G; P=0.07. These differences were amplified in patients with colonic and ileocolonic location for all but the TNFAIP6 haplotype, which evidenced significant difference in ileal CD patients. Our results support the role of the reported expression signature as predictive of anti-TNF outcome in CD patients and suggest an etiological role of those top-five genes in the IFX response pathway.

Evidence, temperature, and the laws of thermodynamics.

Science.gov (United States)

Vieland, Veronica J

2014-01-01

A primary purpose of statistical analysis in genetics is the measurement of the strength of evidence for or against hypotheses. As with any type of measurement, a properly calibrated measurement scale is necessary if we want to be able to meaningfully compare degrees of evidence across genetic data sets, across different types of genetic studies and/or across distinct experimental modalities. In previous papers in this journal and elsewhere, my colleagues and I have argued that geneticists ought to care about the scale on which statistical evidence is measured, and we have proposed the Kelvin temperature scale as a template for a context-independent measurement scale for statistical evidence. Moreover, we have claimed that, mathematically speaking, evidence and temperature may be one and the same thing. On first blush, this might seem absurd. Temperature is a property of systems following certain laws of nature (in particular, the 1st and 2nd Law of Thermodynamics) involving very physical quantities (e.g., energy) and processes (e.g., mechanical work). But what do the laws of thermodynamics have to do with statistical systems? Here I address that question. © 2014 S. Karger AG, Basel.

Evidence of stable genetic structure across a remote island archipelago through self-recruitment in a widely dispersed coral reef fish

KAUST Repository

Priest, Mark

2012-11-19

We used microsatellite markers to assess the population genetic structure of the scribbled rabbitfish Siganus spinus in the western Pacific. This species is a culturally important food fish in the Mariana Archipelago and subject to high fishing pressure. Our primary hypothesis was to test whether the individuals resident in the southern Mariana Island chain were genetically distinct and hence should be managed as discrete stocks. In addition to spatial sampling of adults, newly-settled individuals were sampled on Guam over four recruitment events to assess the temporal stability of the observed spatial patterns, and evidence of self-recruitment. We found significant genetic structure in S. spinus across the western Pacific, with Bayesian analyses revealing three genetically distinct clusters: the southernMariana Islands, east Micronesia, and the west Pacific; with the southern Mariana Islands beingmore strongly differentiated fromthe rest of the region. Analyses of temporal samples from Guam indicated the southern Mariana cluster was stable over time, with no genetic differentiation between adults versus recruits, or between samples collected across four separate recruitment events spanning 11 months. Subsequent assignment tests indicated seven recruits had self-recruited from within the Southern Mariana Islands population. Our results confirm the relative isolation of the southern Mariana Islands population and highlight how local processes can act to isolate populations that, by virtue of their broad-scale distribution, have been subject to traditionally high gene flows. Our results add to a growing consensus that self-recruitment is a highly significant influence on the population dynamics of tropical reef fish. 2012 The Authors. Ecology and Evolution published by Blackwell Publishing Ltd.

Getting to uptake: do communities of practice support the implementation of evidence-based practice?

Science.gov (United States)

Barwick, Melanie A; Peters, Julia; Boydell, Katherine

2009-02-01

Practitioners are increasingly encouraged to adopt evidence-based practices (EBP) leading to a need for new knowledge translation strategies to support implementation and practice change. This study examined the benefits of a community of practice in the context of Ontario's children's mental health sector where organizations are mandated to adopt a standardized outcome measure to monitor client response to treatment. Readiness for change, practice change, content knowledge, and satisfaction with and use of implementation supports were examined among practitioners newly trained on the measure who were randomly assigned to a community of practice (CoP) or a practice as usual (PaU) group. CoP practitioners attended 6 sessions over 12 months; PaU practitioners had access to usual implementation supports. Groups did not differ on readiness for change or reported practice change, although CoP participants demonstrated greater use of the tool in practice, better content knowledge and were more satisfied with implementation supports than PaU participants. CoPs present a promising model for translating EBP knowledge and promoting practice change in children's mental health that requires further study.

Genetic Evidence for Multiple Sources of the Non-Native Fish Cichlasoma urophthalmus (Günther; Mayan Cichlids) in Southern Florida

OpenAIRE

Harrison, Elizabeth; Trexler, Joel C.; Collins, Timothy M.; Vazquez-Domínguez, Ella; Razo-Mendivil, Ulises; Matamoros, Wilfredo A.; Barrientos, Christian

2014-01-01

The number and diversity of source populations may influence the genetic diversity of newly introduced populations and affect the likelihood of their establishment and spread. We used the cytochrome b mitochondrial gene and nuclear microsatellite loci to identify the sources of a successful invader in southern Florida, USA, Cichlasoma urophthalmus (Mayan cichlid). Our cytochrome b data supported an introduction from Guatemala, while our microsatellite data suggested movement of Mayan Cichlids...

Elevational patterns of genetic variation in the cosmopolitan moss Bryum argenteum (Bryaceae).

Science.gov (United States)

Pisa, Sergio; Werner, Olaf; Vanderpoorten, Alain; Magdy, Mahmoud; Ros, Rosa M

2013-10-01

The Baas Becking tenet posits that 'everything is everywhere, but the environment selects' to explain cosmopolitan distributions in highly vagile taxa. Bryophyte species show wider distributions than vascular plants and include examples of truly cosmopolitan ranges, which have been interpreted as a result of high dispersal capacities and ecological plasticity. In the current study, we documented patterns of genetic structure and diversity in the cosmopolitan moss Bryum argenteum along an elevational gradient to determine if genetic diversity and structure is homogenized by intense migrations in the lack of ecological differentiation. • 60 specimens were collected in the Sierra Nevada Mountains (Spain) between 100 and 2870 m and sequenced for ITS and rps4. Comparative analyses, genetic diversity estimators, and Mantel's tests were employed to determine the relationship between genetic variation, elevation, and geographic distance and to look for signs of demographic shifts. • Genetic diversity peaked above 1900 m and no signs of demographic shifts were detected at any elevation. There was a strong phylogenetic component in elevational variation. Genetic variation was significantly correlated with elevation, but not with geographic distance. • The results point to the long-term persistence of Bryum argenteum in a range that was glaciated during the Late Pleistocene. Evidence for an environmentally driven pattern of genetic differentiation suggests adaptive divergence. This supports the Baas Becking tenet and indicates that ecological specialization might play a key role in explaining patterns of genetic structure in cosmopolitan mosses.

Induction of genetic instability by ionizing radiation

International Nuclear Information System (INIS)

Little, J.B.

1999-01-01

Evidence is presented to support the hypothesis that radiation may induce a heritable, genome-wide process of instability that leads to an enhanced frequency of genetic changes occurring among the progeny of the original irradiated cell. This instability is transmissible over many generations of cell replication. Mutational instability is induced in a relatively large fraction (approximately 10 %) of the cell population, and may be modulated by factors acting in vivo. Thus, it cannot be a targeted event involving a specific gene or set of genes. There is no dose-response relationship in the range 2-12 Gy, suggesting that the instability phenotype may be induced by quite low radiation doses. The molecular mechanisms associated with the genesis of mutations in unstable populations differ from those for direct X-ray-induced mutations. These results suggest that it may not be possible to predict the nature of the dose-response relationship for the ultimate genetic effects of radiation based on a qualitative or quantitative analysis of the original DNA lesions. (author)

Is the higher rate of parental child homicide in stepfamilies an effect of non-genetic relatedness?

Institute of Scientific and Technical Information of China (English)

Hans TEMRIN; Johanna NORDLUND; Mikael RYING; Birgitta S. TULLBERG

2011-01-01

In an evolutionary perspective individuals are expected to vary the degree of parental love and care in relation to the fitness value that a child represents. Hence, stepparents are expected to show less solicitude than genetically related parents, and this lack of genetic relatedness has been used to explain the higher frequencies of child abuse and homicide found in stepfamilies.However, other factors than non-genetic relatedness may cause this over-representation in stepfamilies. Here we use a 45-year data set of parental child homicides in Sweden to test two hypotheses related to the higher incidence in stepfamilies: 1) adults in different types of family differ in their general disposition to use violence, and 2) parents are more likely to kill stepchildren than genetically related children. Of the 152 perpetrators in biparental families there was an overrepresentation of perpetrators in stepfamilies (n=27) compared with the general population. We found support for the first hypothesis in that both general and violent crime rates were higher in stepfamilies, both in the general population and among perpetrators of child homicide. However, we found no support for the second hypothesis because of the 27 perpetrators in stepfamilies the perpetrator killed a genetically related child in 13 cases, a stepchild in 13 cases and both types of children in one case. Moreover, out of the 12 families where the perpetrator lived with both stepchildren and genetic children, there was no bias towards killing stepchildren. Thus, we found no evidence for an effect of non-genetic relatedness per se [Current Zoology 57 (3): 253-59, 2011].

Genetic structuring and migration patterns of Atlantic bigeye tuna, Thunnus obesus (Lowe, 1839

Directory of Open Access Journals (Sweden)

Beerli Peter

2008-09-01

Full Text Available Abstract Background Large pelagic fishes are generally thought to have little population genetic structuring based on their cosmopolitan distribution, large population sizes and high dispersal capacities. However, gene flow can be influenced by ecological (e.g. homing behaviour and physical (e.g. present-day ocean currents, past changes in sea temperature and levels factors. In this regard, Atlantic bigeye tuna shows an interesting genetic structuring pattern with two highly divergent mitochondrial clades (Clades I and II, which are assumed to have been originated during the last Pleistocene glacial maxima. We assess genetic structure patterns of Atlantic bigeye tuna at the nuclear level, and compare them with mitochondrial evidence. Results We examined allele size variation of nine microsatellite loci in 380 individuals from the Gulf of Guinea, Canary, Azores, Canada, Indian Ocean, and Pacific Ocean. To investigate temporal stability of genetic structure, three Atlantic Ocean sites were re-sampled a second year. Hierarchical AMOVA tests, RST pairwise comparisons, isolation by distance (Mantel tests, Bayesian clustering analyses, and coalescence-based migration rate inferences supported unrestricted gene flow within the Atlantic Ocean at the nuclear level, and therefore interbreeding between individuals belonging to both mitochondrial clades. Moreover, departures from HWE in several loci were inferred for the samples of Guinea, and attributed to a Wahlund effect supporting the role of this region as a spawning and nursery area. Our microsatellite data supported a single worldwide panmictic unit for bigeye tunas. Despite the strong Agulhas Current, immigration rates seem to be higher from the Atlantic Ocean into the Indo-Pacific Ocean, but the actual number of individuals moving per generation is relatively low compared to the large population sizes inhabiting each ocean basin. Conclusion Lack of congruence between mt and nuclear evidences, which

Genetic structuring and migration patterns of Atlantic bigeye tuna, Thunnus obesus (Lowe, 1839).

Science.gov (United States)

Gonzalez, Elena G; Beerli, Peter; Zardoya, Rafael

2008-09-17

Large pelagic fishes are generally thought to have little population genetic structuring based on their cosmopolitan distribution, large population sizes and high dispersal capacities. However, gene flow can be influenced by ecological (e.g. homing behaviour) and physical (e.g. present-day ocean currents, past changes in sea temperature and levels) factors. In this regard, Atlantic bigeye tuna shows an interesting genetic structuring pattern with two highly divergent mitochondrial clades (Clades I and II), which are assumed to have been originated during the last Pleistocene glacial maxima. We assess genetic structure patterns of Atlantic bigeye tuna at the nuclear level, and compare them with mitochondrial evidence. We examined allele size variation of nine microsatellite loci in 380 individuals from the Gulf of Guinea, Canary, Azores, Canada, Indian Ocean, and Pacific Ocean. To investigate temporal stability of genetic structure, three Atlantic Ocean sites were re-sampled a second year. Hierarchical AMOVA tests, RST pairwise comparisons, isolation by distance (Mantel) tests, Bayesian clustering analyses, and coalescence-based migration rate inferences supported unrestricted gene flow within the Atlantic Ocean at the nuclear level, and therefore interbreeding between individuals belonging to both mitochondrial clades. Moreover, departures from HWE in several loci were inferred for the samples of Guinea, and attributed to a Wahlund effect supporting the role of this region as a spawning and nursery area. Our microsatellite data supported a single worldwide panmictic unit for bigeye tunas. Despite the strong Agulhas Current, immigration rates seem to be higher from the Atlantic Ocean into the Indo-Pacific Ocean, but the actual number of individuals moving per generation is relatively low compared to the large population sizes inhabiting each ocean basin. Lack of congruence between mt and nuclear evidences, which is also found in other species, most likely reflects

Possible genetic damage from diagnostic x irradiation. A review

International Nuclear Information System (INIS)

Withrow, T.J.; Andersen, F.A.; Yao, K.T.S.; Stratmeyer, M.E.

1980-08-01

Although it is known that x irradiation is capable of producing mutations and chromosomal abnormalities in experimental systems, there is little or no direct evidence of such phenomena in humans. This report reviews some human genetic diseases and chromosomal abnormalities as well as the evidence for x-ray induced mutations and chromosomal abnormalities in experimental systems. The examination of these areas reveals that spontaneous chromosomal abnormalities and genetic diseases are associated with the same type of DNA damage that x irradiation produces in experimental systems. Therefore, it is concluded that genetic radiation damage in humans may mainfest itself as an increase in the spontaneous genetic diseases rather than as any unique disease

Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.

Science.gov (United States)

Wilson, R Douglas

2017-10-11

needed to help individuals make decisions consistent with their values and preferences. For patients/public, Strong = We believe most people in this situation would want the recommended course of actions and only a small number would not. Quality of evidence (High, Moderate, Low) based on the confidence that the true effect lies close to that of the estimate of the effect.] Conclusion Pre-conception planning is presently underutilized by both patients and providers. Pre-conception genetic assessment is only a part of the counselling, education, and health management change that can improve perinatal and maternal morbidity and mortality. A published literature review on pre-conception genetic counselling identified mainly clinical cohort studies, surveys, and expert opinion with no RCTs. There is strong support for pre-conception counselling and moderate quality based on the understanding that most individuals would support and use pre-conception counselling when choice, timing, and ease of access is considered. Copyright © 2017 Society of Obstetricians and Gynaecologists of Canada. Published by Elsevier Inc. All rights reserved.

Genetic diversity affects testicular morphology in free-ranging lions (Panthera leo) of the Serengeti Plains and Ngorongoro Crater.

Science.gov (United States)

Munson, L; Brown, J L; Bush, M; Packer, C; Janssen, D; Reiziss, S M; Wildt, D E

1996-09-01

Reduced genetic variability is known to adversely affect ejaculate quality in inbred lions (Panthera leo) physically isolated in the Ngorongoro Crater compared with outbred lions inhabiting the adjacent Serengeti Plains in East Africa. This study compared the histomorphology of testicular biopsies from these two lion populations. Ngorongoro Crater lions had fewer (P 0.05) between populations. Interstitial areas were greater (P < 0.05) in Crater than in Plains lions, but no qualitative differences were evident, suggesting that proportionately less testicular area was occupied by seminiferous tubules in Crater lions. None of the lions in either population had evidence of testicular degeneration. Overall results suggest that inbred Crater lions have reduced spermiogenesis and less total seminiferous tubular area per testis. These data further support the premise that genetic homogeneity compromises reproductive traits in free-living, male African lions.

No evidence of genetic mediation in the association between birthweight and academic performance in 2,413 danish adolescent twin pairs

DEFF Research Database (Denmark)

Petersen, Inge; Jensen, Vibeke Myrup; McGue, Matt

2009-01-01

Abstract Evidence of a positive association between birthweight and IQ has been established in several studies. Analyses of within twin pair differences in birthweight and IQ have been used to shed light on the basis of the association. The strength of this approach is the possibility of controll...... and school achievements at age 16. For both sexes we observed a monotonic increase in academic performance with increasing percentiles of birthweight. However, we did not find that this association is due to genetic mediation....... twin studies find no evidence of such mediation. In the present study we use a large population-based national register study of 2,413 Danish twin-pairs from birth cohorts 1986-1990, of which we have zygosity information on 74%. We perform individual level as well as intra-pair analyses of birthweight...

No Evidence of Genetic Mediation in the Association Between Birthweight and Academic Performance in 2,413 Danish Adolescent Twin Pairs

DEFF Research Database (Denmark)

Petersen, Inge; Jensen, Vibeke Myrup; McGue, Matt K.

2009-01-01

Abstract Evidence of a positive association between birthweight and IQ has been established in several studies. Analyses of within twin pair differences in birthweight and IQ have been used to shed light on the basis of the association. The strength of this approach is the possibility of controll...... and school achievements at age 16. For both sexes we observed a monotonic increase in academic performance with increasing percentiles of birthweight. However, we did not find that this association is due to genetic mediation....... twin studies find no evidence of such mediation. In the present study we use a large population-based national register study of 2,413 Danish twin-pairs from birth cohorts 1986-1990, of which we have zygosity information on 74%. We perform individual level as well as intra-pair analyses of birthweight...

The Evidence Base for How We Learn: Supporting Students' Social, Emotional, and Academic Development. Consensus Statements of Evidence from the Council of Distinguished Scientists

Science.gov (United States)

Jones, Stephanie M.; Kahn, Jennifer

2017-01-01

"The Evidence Base for How We Learn: Supporting Students' Social, Emotional, and Academic Development" articulates the scientific consensus regarding how people learn. The research brief presents a set of consensus statements--developed and unanimously signed onto by the Commission's Council of Distinguished Scientists--that affirm the…

Evidence supporting a zoonotic origin of human coronavirus strain NL63.

Science.gov (United States)

Huynh, Jeremy; Li, Shimena; Yount, Boyd; Smith, Alexander; Sturges, Leslie; Olsen, John C; Nagel, Juliet; Johnson, Joshua B; Agnihothram, Sudhakar; Gates, J Edward; Frieman, Matthew B; Baric, Ralph S; Donaldson, Eric F

2012-12-01

The relationship between bats and coronaviruses (CoVs) has received considerable attention since the severe acute respiratory syndrome (SARS)-like CoV was identified in the Chinese horseshoe bat (Rhinolophidae) in 2005. Since then, several bats throughout the world have been shown to shed CoV sequences, and presumably CoVs, in the feces; however, no bat CoVs have been isolated from nature. Moreover, there are very few bat cell lines or reagents available for investigating CoV replication in bat cells or for isolating bat CoVs adapted to specific bat species. Here, we show by molecular clock analysis that alphacoronavirus (α-CoV) sequences derived from the North American tricolored bat (Perimyotis subflavus) are predicted to share common ancestry with human CoV (HCoV)-NL63, with the most recent common ancestor between these viruses occurring approximately 563 to 822 years ago. Further, we developed immortalized bat cell lines from the lungs of this bat species to determine if these cells were capable of supporting infection with HCoVs. While SARS-CoV, mouse-adapted SARS-CoV (MA15), and chimeric SARS-CoVs bearing the spike genes of early human strains replicated inefficiently, HCoV-NL63 replicated for multiple passages in the immortalized lung cells from this bat species. These observations support the hypothesis that human CoVs are capable of establishing zoonotic-reverse zoonotic transmission cycles that may allow some CoVs to readily circulate and exchange genetic material between strains found in bats and other mammals, including humans.

Evidence Support and Guidelines for Using Heated, Humidified, High-Flow Nasal Cannulae in Neonatology: Oxford Nasal High-Flow Therapy Meeting, 2015.

Science.gov (United States)

Roehr, Charles C; Yoder, Bradley A; Davis, Peter G; Ives, Kevin

2016-12-01

Nasal high-flow therapy (nHFT) has become a popular form of noninvasive respiratory support in neonatal intensive care units. A meeting held in Oxford, UK, in June 2015 examined the evidence base and proposed a consensus statement. In summary, nHFT is effective for support of preterm infants following extubation. There is growing evidence evaluating its use in the primary treatment of respiratory distress. Further study is needed to assess which clinical conditions are most amenable to nHFT support, the most effective flow rates, and escalation and weaning strategies. Its suitability as first-line treatment needs to be further evaluated. Copyright © 2016 Elsevier Inc. All rights reserved.

Behind the wheel and on the map: Genetic and environmental associations between drunk driving and other externalizing behaviors.

Science.gov (United States)

Quinn, Patrick D; Harden, K Paige

2013-11-01

Drunk driving, a major contributor to alcohol-related mortality, has been linked to a variety of other alcohol-related (e.g., Alcohol Dependence, early age at first drink) and non-alcohol-related externalizing behaviors. In a sample of 517 same-sex twin pairs from the National Longitudinal Study of Adolescent Health, we examined 3 conceptualizations of the etiology of drunk driving in relation to other externalizing behaviors. A series of behavioral-genetic models found consistent evidence for drunk driving as a manifestation of genetic vulnerabilities toward a spectrum of alcohol-related and non-alcohol-related externalizing behaviors. Most notably, multidimensional scaling analyses produced a genetic "map" with drunk driving located near its center, supporting the strength of drunk driving's genetic relations with a broad range of externalizing behaviors. In contrast, nonshared environmental associations with drunk driving were weaker and more diffuse. Drunk driving may be a manifestation of genetic vulnerabilities toward a broad externalizing spectrum. PsycINFO Database Record (c) 2013 APA, all rights reserved.

Genetic Evidence for Recent Population Mixture in India

OpenAIRE

Moorjani, Priya; Thangaraj, Kumarasamy; Patterson, Nick; Lipson, Mark; Loh, Po-Ru; Govindaraj, Periyasamy; Berger, Bonnie; Reich, David; Singh, Lalji

2013-01-01

Most Indian groups descend from a mixture of two genetically divergent populations: Ancestral North Indians (ANI) related to Central Asians, Middle Easterners, Caucasians, and Europeans; and Ancestral South Indians (ASI) not closely related to groups outside the subcontinent. The date of mixture is unknown but has implications for understanding Indian history. We report genome-wide data from 73 groups from the Indian subcontinent and analyze linkage disequilibrium to estimate ANI-ASI mixture ...

Genetic structure and domestication history of the grape

Science.gov (United States)

Myles, Sean; Boyko, Adam R.; Owens, Christopher L.; Brown, Patrick J.; Grassi, Fabrizio; Aradhya, Mallikarjuna K.; Prins, Bernard; Reynolds, Andy; Chia, Jer-Ming; Ware, Doreen; Bustamante, Carlos D.; Buckler, Edward S.

2011-01-01

The grape is one of the earliest domesticated fruit crops and, since antiquity, it has been widely cultivated and prized for its fruit and wine. Here, we characterize genome-wide patterns of genetic variation in over 1,000 samples of the domesticated grape, Vitis vinifera subsp. vinifera, and its wild relative, V. vinifera subsp. sylvestris from the US Department of Agriculture grape germplasm collection. We find support for a Near East origin of vinifera and present evidence of introgression from local sylvestris as the grape moved into Europe. High levels of genetic diversity and rapid linkage disequilibrium (LD) decay have been maintained in vinifera, which is consistent with a weak domestication bottleneck followed by thousands of years of widespread vegetative propagation. The considerable genetic diversity within vinifera, however, is contained within a complex network of close pedigree relationships that has been generated by crosses among elite cultivars. We show that first-degree relationships are rare between wine and table grapes and among grapes from geographically distant regions. Our results suggest that although substantial genetic diversity has been maintained in the grape subsequent to domestication, there has been a limited exploration of this diversity. We propose that the adoption of vegetative propagation was a double-edged sword: Although it provided a benefit by ensuring true breeding cultivars, it also discouraged the generation of unique cultivars through crosses. The grape currently faces severe pathogen pressures, and the long-term sustainability of the grape and wine industries will rely on the exploitation of the grape's tremendous natural genetic diversity. PMID:21245334

Genetically meaningful phenotypic subgroups in autism spectrum disorders.

Science.gov (United States)

Veatch, O J; Veenstra-Vanderweele, J; Potter, M; Pericak-Vance, M A; Haines, J L

2014-03-01

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong evidence for genetic susceptibility. However, the effect sizes for implicated chromosomal loci are small, hard to replicate and current evidence does not explain the majority of the estimated heritability. Phenotypic heterogeneity could be one phenomenon complicating identification of genetic factors. We used data from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, head circumferences, and ages at exams as classifying variables to identify more clinically similar subgroups of individuals with ASD. We identified two distinct subgroups of cases within the Autism Genetic Resource Exchange dataset, primarily defined by the overall severity of evaluated traits. In addition, there was significant familial clustering within subgroups (odds ratio, OR ≈ 1.38-1.42, P definition that should increase power to detect genetic factors influencing risk for ASD. © 2013 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

The genetics of obstructive sleep apnoea.

LENUS (Irish Health Repository)

Kent, Brian D

2012-02-01

PURPOSE OF REVIEW: Obstructive sleep apnoea syndrome (OSAS) is a highly prevalent disorder associated with reduced quality of life and adverse cardiovascular and metabolic sequelae. Recent years have seen an intensification of the research effort to establish the genetic contribution to the development of OSAS and its sequelae. This review explores emerging evidence in this field. RECENT FINDINGS: A genetic basis for sleep-disordered breathing has been demonstrated for discrete disorders such as Treacher-Collins and Down syndromes, but the picture is less clear in so-called idiopathic OSAS. A degree of heritability appears likely in some of the intermediate phenotypes that lead to OSAS, particularly craniofacial morphology. However, only sparse and often contradictory evidence exists regarding the role of specific polymorphisms in causing OSAS in the general population. Similarly, investigations of the cardiovascular sequelae of OSAS have in general failed to consistently find single causative genetic mutations. Nonetheless, evidence suggests a role for tumour necrosis factor-alpha polymorphisms in particular, and large-scale family studies have suggested shared pathogenetic pathways for the development of obesity and OSAS. SUMMARY: As with other common disorders, OSAS is likely to result from multiple gene-gene interactions occurring in a suitable environment. The application of modern genetic investigative techniques, such as genome-wide association studies, may facilitate new discoveries in this field.

A new lead from genetic studies in depressed siblings: assessing studies of chromosome 3.

Science.gov (United States)

Hamilton, Steven P

2011-08-01

Studies by Breen et al. and Pergadia et al. find evidence for genetic linkage between major depressive disorder and the same region on chromosome 3. The linked region contains the gene GRM7, which encodes a protein for the metabotropic glutamate receptor 7 (mGluR7). Both studies used affected sibling pairs, and neither was able to replicate its finding using association studies in individuals from larger population-based studies. Other family-based studies have also failed to find a signal in this region. Furthermore, there are some differences in how the phenotype was classified, with Breen et al. finding evidence only in the most severely affected patients. Nonetheless, the finding is not without other substantive support. A meta-analysis of 3,957 case subjects with major depressive disorder and 3,428 control subjects from the Sequenced Treatment Alternatives to Relieve Depression (STAR*D), Genetics of Recurrent Early-onset Depression (GenRED), and the Genetic Association Information Network-MDD (GAIN-MDD) data sets demonstrated a region of association for major depressive disorder within GRM7. Thus, the significance of this finding remains uncertain, although it points to a gene that might hold significant promise for further developments in studying the pathophysiology and treatment of major depressive disorder.

Danish evidence-based clinical guideline for use of nutritional support in pulmonary rehabilitation of undernourished patients with stable COPD

DEFF Research Database (Denmark)

Beck, Anne Marie; Iepsen, Ulrik Winning; Topperup, Randi

2015-01-01

Background and aims Disease-related under-nutrition is a common problem in individuals with COPD. The rationale for nutritional support in pulmonary rehabilitation therefore seems obvious. However there is limited evidence regarding the patient-relevant outcomes i.e. activities of daily living (ADL......) or quality of life. Therefore the topic was included in The Danish Health and Medicines Authority's development of an evidence-based clinical guideline for rehabilitation of patients with stable COPD. Methods The methods were specified by The Danish Health and Medicines Authority as part of a standardized...... studies had been published. There were evidence of moderate quality that nutritional support for undernourished patients with COPD lead to a weight gain of 1.7 kg (95% confidence interval: 1.3 to 2.2 kg), but the effect was quantified as a mean change from baseline, which is less reliable. There were...

Evidence supporting the use of recombinant activated factor VII in congenital bleeding disorders

Directory of Open Access Journals (Sweden)

Pär I Johansson

2010-06-01

Full Text Available Pär I Johansson, Sisse R OstrowskiCapital Region Blood Bank, Section for Transfusion Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkBackground: Recombinant activated factor VII (rFVIIa, NovoSeven® was introduced in 1996 for the treatment of hemophilic patients with antibodies against coagulation factor VIII or IX.Objective: To review the evidence supporting the use of rFVIIa for the treatment of patients with congenital bleeding disorders.Patients and methods: English-language databases were searched in September 2009 for reports of randomized controlled trials (RCTs evaluating the ability of rFVIIa to restore hemostasis in patients with congenital bleeding disorders.Results: Eight RCTs involving 256 hemophilic patients with antibodies against coagulation factors, also known as inhibitors, were identified. The evidence supporting the use of rFVIIa in these patients was weak with regard to dose, clinical setting, mode of administration, efficacy, and adverse events, given the limited sample size of each RCT and the heterogeneity of the studies.Conclusion: The authors suggest that rFVIIa therapy in hemophilic patients with inhibitors should be based on the individual’s ability to generate thrombin and form a clot, and not on the patient’s weight alone. Therefore, assays for thrombin generation, such as whole-blood thromboelastography, have the potential to significantly improve the treatment of these patients.Keywords: hemophilia, inhibitors, coagulation factor VIII, coagulation factor IX, rFVIIa, NovoSeven, FEIBA, hemostasis, RCT

The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

Science.gov (United States)

Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

2015-02-01

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.

Social Relationships Moderate Genetic Influences on Heavy Drinking in Young Adulthood.

Science.gov (United States)

Barr, Peter B; Salvatore, Jessica E; Maes, Hermine H; Korhonen, Tellervo; Latvala, Antti; Aliev, Fazil; Viken, Richard; Rose, Richard J; Kaprio, Jaakko; Dick, Danielle M

2017-11-01

Social relationships, such as committed partnerships, limit risky behaviors like heavy drinking, in part, because of increased social control. The current analyses examine whether involvement in committed relationships or social support extend beyond a main effect to limit genetic liability in heavy drinking (gene-environment interaction) during young adulthood. Using data from the young adult wave of the Finnish Twin Study, FinnTwin12 (n = 3,269), we tested whether involvement in romantic partnerships or social support moderated genetic influences on heavy drinking using biometric twin modeling for gene-environment interaction. Involvement in a romantic partnership was associated with a decline in genetic variance in both males and females, although the overall magnitude of genetic influence was greater in males. Sex differences emerged for social support: increased social support was associated with increased genetic influence for females and reduced genetic influence for males. These findings demonstrate that social relationships are important moderators of genetic influences on young adult alcohol use. Mechanisms of social control that are important in limiting genetic liability during adolescence extend into young adulthood. In addition, although some relationships limit genetic liability equally, others, such as extensive social networks, may operate differently across sex.

Genetic aspects of pathological gambling: a complex disorder with shared genetic vulnerabilities.

Science.gov (United States)

Lobo, Daniela S S; Kennedy, James L

2009-09-01

To summarize and discuss findings from genetic studies conducted on pathological gambling (PG). Searches were conducted on PubMed and PsychInfo databases using the keywords: 'gambling and genes', 'gambling and family' and 'gambling and genetics', yielding 18 original research articles investigating the genetics of PG. Twin studies using the Vietnam Era Twin Registry have found that: (i) the heritability of PG is estimated to be 50-60%; (ii) PG and subclinical PG are a continuum of the same disorder; (iii) PG shares genetic vulnerability factors with antisocial behaviours, alcohol dependence and major depressive disorder; (iv) genetic factors underlie the association between exposure to traumatic life-events and PG. Molecular genetic investigations on PG are at an early stage and published studies have reported associations with genes involved in the brain's reward and impulse control systems. Despite the paucity of studies in this area, published studies have provided considerable evidence of the influence of genetic factors on PG and its complex interaction with other psychiatric disorders and environmental factors. The next step would be to investigate the association and interaction of these variables in larger molecular genetic studies with subphenotypes that underlie PG. Results from family and genetic investigations corroborate further the importance of understanding the biological underpinnings of PG in the development of more specific treatment and prevention strategies.

Genetic variability in MCF-7 sublines: evidence of rapid genomic and RNA expression profile modifications

International Nuclear Information System (INIS)

Nugoli, Mélanie; Theillet, Charles; Chuchana, Paul; Vendrell, Julie; Orsetti, Béatrice; Ursule, Lisa; Nguyen, Catherine; Birnbaum, Daniel; Douzery, Emmanuel JP; Cohen, Pascale

2003-01-01

Both phenotypic and cytogenetic variability have been reported for clones of breast carcinoma cell lines but have not been comprehensively studied. Despite this, cell lines such as MCF-7 cells are extensively used as model systems. In this work we documented, using CGH and RNA expression profiles, the genetic variability at the genomic and RNA expression levels of MCF-7 cells of different origins. Eight MCF-7 sublines collected from different sources were studied as well as 3 subclones isolated from one of the sublines by limit dilution. MCF-7 sublines showed important differences in copy number alteration (CNA) profiles. Overall numbers of events ranged from 28 to 41. Involved chromosomal regions varied greatly from a subline to another. A total of 62 chromosomal regions were affected by either gains or losses in the 11 sublines studied. We performed a phylogenetic analysis of CGH profiles using maximum parsimony in order to reconstruct the putative filiation of the 11 MCF-7 sublines. The phylogenetic tree obtained showed that the MCF-7 clade was characterized by a restricted set of 8 CNAs and that the most divergent subline occupied the position closest to the common ancestor. Expression profiles of 8 MCF-7 sublines were analyzed along with those of 19 unrelated breast cancer cell lines using home made cDNA arrays comprising 720 genes. Hierarchical clustering analysis of the expression data showed that 7/8 MCF-7 sublines were grouped forming a cluster while the remaining subline clustered with unrelated breast cancer cell lines. These data thus showed that MCF-7 sublines differed at both the genomic and phenotypic levels. The analysis of CGH profiles of the parent subline and its three subclones supported the heteroclonal nature of MCF-7 cells. This strongly suggested that the genetic plasticity of MCF-7 cells was related to their intrinsic capacity to generate clonal heterogeneity. We propose that MCF-7, and possibly the breast tumor it was derived from, evolved

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Science.gov (United States)

Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

2016-02-01

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

Role of genetics in infection-associated arthritis.

Science.gov (United States)

Benham, Helen; Robinson, Philip C; Baillet, Athan C; Rehaume, Linda M; Thomas, Ranjeny

2015-04-01

Genetic discoveries in arthritis and their associated biological pathways spanning the innate and adaptive immune system demonstrate the strong association between susceptibility to arthritis and control of exogenous organisms. The canonical theory of the aetiology of immune-mediated arthritis and other immune-mediated diseases is that the introduction of exogenous antigenic stimuli to a genetically susceptible host sets up the environment for an abnormal immune response manifesting as disease. A disruption in host-microbe homeostasis driven by disease-associated genetic variants could ultimately provide the source of exogenous antigen triggering disease development. We discuss genetic variants impacting the innate and adaptive arms of the immune system and their relationship to microbial control and arthritic disease. We go on to consider the evidence for a relationship between HLA-B27, infection and arthritis, and then emerging evidence for an interaction between microbiota and rheumatoid arthritis. Copyright © 2015 Elsevier Ltd. All rights reserved.

ESTIMATION OF RECURRENCE RISK AND GENETIC COUNSELLING OF FAMILIES WITH EVIDENCE OF ISOLATED (UNSYNDROMIC CLEFT LIP AND PALATE IN SUCEAVA COUNTY, ROMANIA

Directory of Open Access Journals (Sweden)

Crsitian Tudose

2007-08-01

Full Text Available : Cleft lip and/or palate are the most frequent facial congenital malformations and represent a dramatic situation at birth, which involves important functional, aesthetic, psychological and social impairment that motivates the necessity of a thorough genetic study in the view of genetic counselling. We have studied the families of 100 children with clefts born during the years 1985-1996 in Suceava county and selected from the evidences of the Children Hospital Suceava. The recurrence risk was determined in accordance with the rules of calculation for multifactorial inheritance; it varied between 2 – 5% for the majority of cases (77% which corresponds to a small risk degree; only in 23% of cases the risk varied between 6 – 15% which corresponds to a medium risk degree

Facilitating the implementation of evidence-based practice through contextual support and nursing leadership

Directory of Open Access Journals (Sweden)

Kueny A

2015-06-01

Full Text Available Angela Kueny,1 Leah L Shever,2 Melissa Lehan Mackin,3 Marita G Titler4 1Luther College, Decorah, IA, 2The University of Michigan Hospital and Health Center, Ann Arbor, MI, 3University of Iowa College of Nursing, Iowa City, IA, 4University of Michigan School of Nursing, Ann Arbor, MI, USA Background/purpose: Nurse managers (NMs play an important role promoting evidence-based practice (EBP on clinical units within hospitals. However, there is a dearth of research focused on NM perspectives about institutional contextual factors to support the goal of EBP on the clinical unit. The purpose of this article is to identify contextual factors described by NMs to drive change and facilitate EBP at the unit level, comparing and contrasting these perspectives across nursing units. Methods: This study employed a qualitative descriptive design using interviews with nine NMs who were participating in a large effectiveness study. To stratify the sample, NMs were selected from nursing units designated as high or low performing based on implementation of EBP interventions, scores on the Meyer and Goes research use scale, and fall rates. Descriptive content analysis was used to identify themes that reflect the complex nature of infrastructure described by NMs and contextual influences that supported or hindered their promotion of EBP on the clinical unit. Results: NMs perceived workplace culture, structure, and resources as facilitators or barriers to empowering nurses under their supervision to use EBP and drive change. A workplace culture that provides clear communication of EBP goals or regulatory changes, direct contact with CEOs, and clear expectations supported NMs in their promotion of EBP on their units. High-performing unit NMs described a structure that included nursing-specific committees, allowing nurses to drive change and EBP from within the unit. NMs from high-performing units were more likely to articulate internal resources, such as quality

Genetic testing and its implications: human genetics researchers grapple with ethical issues.

Science.gov (United States)

Rabino, Isaac

2003-01-01

To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

A potential third Manta Ray species near the Yucatán Peninsula? Evidence for a recently diverged and novel genetic Manta group from the Gulf of Mexico

Directory of Open Access Journals (Sweden)

Silvia Hinojosa-Alvarez

2016-11-01

Full Text Available We present genetic and morphometric support for a third, distinct, and recently diverged group of Manta ray that appears resident to the Yucatán coastal waters of the Gulf of Mexico. Individuals of the genus Manta from Isla Holbox are markedly different from the other described manta rays in their morphology, habitat preference, and genetic makeup. Herein referred to as the Yucatán Manta Ray, these individuals form two genetically distinct groups: (1 a group of mtDNA haplotypes divergent (0.78% from the currently recognized Manta birostris and M. alfredi species, and (2 a group possessing mtDNA haplotypes of M. birostris and highly similar haplotypes. The latter suggests the potential for either introgressive hybridization between Yucatán Manta Rays and M. birostris, or the retention of ancestral M. birostris signatures among Yucatán Manta Rays. Divergence of the genetically distinct Yucatán Manta Ray from M. birostris appears quite recent (<100,000 YBP following fit to an Isolation-with-Migration model, with additional support for asymmetrical gene flow from M. birostris into the Yucatán Manta Ray. Formal naming of the Yucatán Manta Ray cannot yet be assigned until an in-depth taxonomic study and further confirmation of the genetic identity of existing type specimens has been performed.

Local Climate Heterogeneity Shapes Population Genetic Structure of Two Undifferentiated Insular Scutellaria Species.

Science.gov (United States)

Hsiung, Huan-Yi; Huang, Bing-Hong; Chang, Jui-Tse; Huang, Yao-Moan; Huang, Chih-Wei; Liao, Pei-Chun

2017-01-01

Spatial climate heterogeneity may not only affect adaptive gene frequencies but could also indirectly shape the genetic structure of neutral loci by impacting demographic dynamics. In this study, the effect of local climate on population genetic variation was tested in two phylogenetically close Scutellaria species in Taiwan. Scutellaria taipeiensis , which was originally assumed to be an endemic species of Taiwan Island, is shown to be part of the widespread species S. barbata based on the overlapping ranges of genetic variation and climatic niches as well as their morphological similarity. Rejection of the scenario of "early divergence with secondary contact" and the support for multiple origins of populations of S. taipeiensis from S. barbata provide strong evolutionary evidence for a taxonomic revision of the species combination. Further tests of a climatic effect on genetic variation were conducted. Regression analyses show nonlinear correlations among any pair of geographic, climatic, and genetic distances. However, significantly, the bioclimatic variables that represent the precipitation from late summer to early autumn explain roughly 13% of the genetic variation of our sampled populations. These results indicate that spatial differences of precipitation in the typhoon season may influence the regeneration rate and colonization rate of local populations. The periodic typhoon episodes explain the significant but nonlinear influence of climatic variables on population genetic differentiation. Although, the climatic difference does not lead to species divergence, the local climate variability indeed impacts the spatial genetic distribution at the population level.

Barriers, facilitators and views about next steps to implementing supports for evidence-informed decision-making in health systems: a qualitative study.

Science.gov (United States)

Ellen, Moriah E; Léon, Grégory; Bouchard, Gisèle; Ouimet, Mathieu; Grimshaw, Jeremy M; Lavis, John N

2014-12-05

Mobilizing research evidence for daily decision-making is challenging for health system decision-makers. In a previous qualitative paper, we showed the current mix of supports that Canadian health-care organizations have in place and the ones that are perceived to be helpful to facilitate the use of research evidence in health system decision-making. Factors influencing the implementation of such supports remain poorly described in the literature. Identifying the barriers to and facilitators of different interventions is essential for implementation of effective, context-specific, supports for evidence-informed decision-making (EIDM) in health systems. The purpose of this study was to identify (a) barriers and facilitators to implementing supports for EIDM in Canadian health-care organizations, (b) views about emerging development of supports for EIDM, and (c) views about the priorities to bridge the gaps in the current mix of supports that these organizations have in place. This qualitative study was conducted in three types of health-care organizations (regional health authorities, hospitals, and primary care practices) in two Canadian provinces (Ontario and Quebec). Fifty-seven in-depth semi-structured telephone interviews were conducted with senior managers, library managers, and knowledge brokers from health-care organizations that have already undertaken strategic initiatives in knowledge translation. The interviews were taped, transcribed, and then analyzed thematically using NVivo 9 qualitative data analysis software. Limited resources (i.e., money or staff), time constraints, and negative attitudes (or resistance) toward change were the most frequently identified barriers to implementing supports for EIDM. Genuine interest from health system decision-makers, notably their willingness to invest money and resources and to create a knowledge translation culture over time in health-care organizations, was the most frequently identified facilitator to

Broad-scale Population Genetics of the Host Sea Anemone, Heteractis magnifica

KAUST Repository

Emms, Madeleine

2015-12-01

Broad-scale population genetics can reveal population structure across an organism’s entire range, which can enable us to determine the most efficient population-wide management strategy depending on levels of connectivity. Genetic variation and differences in genetic diversity on small-scales have been reported in anemones, but nothing is known about their broad-scale population structure, including that of “host” anemone species, which are increasingly being targeted in the aquarium trade. In this study, microsatellite markers were used as a tool to determine the population structure of a sessile, host anemone species, Heteractis magnifica, across the Indo-Pacific region. In addition, two rDNA markers were used to identify Symbiodinium from the samples, and phylogenetic analyses were used to measure diversity and geographic distribution of Symbiodinium across the region. Significant population structure was identified in H. magnifica across the Indo-Pacific, with at least three genetic breaks, possibly the result of factors such as geographic distance, geographic isolation and environmental variation. Symbiodinium associations were also affected by environmental variation and supported the geographic isolation of some regions. These results suggests that management of H. magnifica must be implemented on a local scale, due to the lack of connectivity between clusters. This study also provides further evidence for the combined effects of geographic distance and environmental distance in explaining genetic variance.

Genetic and nutrition development of indigenous chicken in Africa

DEFF Research Database (Denmark)

Khobondo, J O; Muasya, T K; Miyumo, S

2015-01-01

This review gives insights into genetic and feeding regime development for indigenous chicken genetic resources. We highlight and combine confirming evidence of genetic diversity and variability using morphological and molecular techniques. We further discuss previous past and current genetic...... requirement for indigenous chicken and report nutritive contents of various local feedstuffs under various production systems. Various conservation strategies for sustainable utilization are hereby reviewed...

Genetic evidence for gonochoristic reproduction in gynogenetic silver crucian carp (Carassius auratus gibelio bloch) as revealed by RAPD assays.

Science.gov (United States)

Zhou, L; Wang, Y; Gui, J F

2000-11-01

Sex evolution has been a debating focus in evolutionary genetics. In lower vertebrates of reptiles, amphibians, and fish, a species or a bioform reproduces either sexually or asexually but never both. A few species were found to consist of all females in fish. These all-female species can propagate by asexual reproduction modes, such as gynogenesis and hybridogenesis. However, the coexistence of sexuality and asexuality in a single species was recently noted only in a cyprinid fish silver crucian carp, Carassius auratus gibelio. This fish had been demonstrated to be capable of gynogenesis stimulated by sperm from other related species. Surprisingly, natural populations of this fish consist of a minor but significant portion (approx. 20%) of males. As different clones with specific phenotypic and genetic characteristics have been found, and RAPD markers specific to each clone have recently been identified, this fish offers many advantages for analyzing whether or not genetic recombination occurs between different clones. In this study, artificial propagation was performed in clone F and clone D. Ovulated eggs from clone F were divided into two parts and respectively inseminated with sperm from a clone D male and from a red common carp (Cyprinus carpio) male. The control clone D individuals were selected from gynogenetic offspring of clone D activated by sperm of red common carp. The phenotype and sex ratio in the experimental groups were also observed. Using RAPD molecular markers, which allow for reliable discrimination and genetic analysis of different clones, we have revealed direct molecular evidence for gonochoristic reproduction in the gynogenetic silver crucian carp and confirmed a previous hypothesis that the silver crucian carp might reproduce both gynogenetically and gonochoristically. Therefore, we conclude that the silver crucian carp possesses two reproductive modes, i.e., gynogenetic and gonochoristic reproduction. The response mechanism of two

How task characteristics and social support relate to managerial learning: empirical evidence from Dutch home care.

Science.gov (United States)

Ouweneel, A P Else; Taris, Toon W; Van Zolingen, Simone J; Schreurs, Paul J G

2009-01-01

Researchers have revealed that managers profit most from informal and on-the-job learning. Moreover, research has shown that task characteristics and social support affect informal learning. On the basis of these insights, the authors examined the effects of task characteristics (psychological job demands, job control) and social support from the supervisor and colleagues on informal on-the-job learning among 1588 managers in the Dutch home-care sector. A regression analysis revealed that high demands, high control, and high colleague and supervisor support were each associated with high levels of informal learning. The authors found no evidence for statistical interactions among the effects of these concepts. They concluded that to promote managers' informal workplace learning, employers should especially increase job control.

Nepotistic patterns of violent psychopathy: evidence for adaptation?

Directory of Open Access Journals (Sweden)

Daniel Brian Krupp

2012-08-01

Full Text Available Psychopaths routinely disregard social norms by engaging in selfish, antisocial, often violent behavior. Commonly characterized as mentally disordered, recent evidence suggests that psychopaths are executing a well-functioning, if unscrupulous strategy that historically increased reproductive success at the expense of others. Natural selection ought to have favored strategies that spared close kin from harm, however, because actions affecting the fitness of genetic relatives contribute to an individual’s inclusive fitness. Conversely, there is evidence that mental disorders can disrupt psychological mechanisms designed to protect relatives. Thus, mental disorder and adaptation accounts of psychopathy generate opposing hypotheses: psychopathy should be associated with an increase in the victimization of kin in the former account but not in the latter. Contrary to the mental disorder hypothesis, we show here in a sample of 289 violent offenders that variation in psychopathy predicts a decrease in the genetic relatedness of victims to offenders; that is, psychopathy predicts an increased likelihood of harming nonrelatives. Because nepotistic inhibition in violence may be caused by dispersal or kin discrimination, we examined the effects of psychopathy on (1 the dispersal of offenders and their kin and (2 sexual assault frequency (as a window on kin discrimination. Although psychopathy was negatively associated with coresidence with kin and positively associated with the commission of sexual assault, it remained negatively associated with the genetic relatedness of victims to offenders after removing cases of offenders who had coresided with kin and cases of sexual assault from the analyses. These results stand in contrast to models positing psychopathy as a pathology, and provide support for the hypothesis that psychopathy reflects an evolutionary strategy largely favoring the exploitation of nonrelatives.

Genetic influences on schizophrenia and subcortical brain volumes

DEFF Research Database (Denmark)

Franke, Barbara; Stein, Jason L; Ripke, Stephan

2016-01-01

and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between...... genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk...

Derivation and validation of the Personal Support Algorithm: an evidence-based framework to inform allocation of personal support services in home and community care.

Science.gov (United States)

Sinn, Chi-Ling Joanna; Jones, Aaron; McMullan, Janet Legge; Ackerman, Nancy; Curtin-Telegdi, Nancy; Eckel, Leslie; Hirdes, John P

2017-11-25

Personal support services enable many individuals to stay in their homes, but there are no standard ways to classify need for functional support in home and community care settings. The goal of this project was to develop an evidence-based clinical tool to inform service planning while allowing for flexibility in care coordinator judgment in response to patient and family circumstances. The sample included 128,169 Ontario home care patients assessed in 2013 and 25,800 Ontario community support clients assessed between 2014 and 2016. Independent variables were drawn from the Resident Assessment Instrument-Home Care and interRAI Community Health Assessment that are standardised, comprehensive, and fully compatible clinical assessments. Clinical expertise and regression analyses identified candidate variables that were entered into decision tree models. The primary dependent variable was the weekly hours of personal support calculated based on the record of billed services. The Personal Support Algorithm classified need for personal support into six groups with a 32-fold difference in average billed hours of personal support services between the highest and lowest group. The algorithm explained 30.8% of the variability in billed personal support services. Care coordinators and managers reported that the guidelines based on the algorithm classification were consistent with their clinical judgment and current practice. The Personal Support Algorithm provides a structured yet flexible decision-support framework that may facilitate a more transparent and equitable approach to the allocation of personal support services.

Derivation and validation of the Personal Support Algorithm: an evidence-based framework to inform allocation of personal support services in home and community care

Directory of Open Access Journals (Sweden)

Chi-Ling Joanna Sinn

2017-11-01

Full Text Available Abstract Background Personal support services enable many individuals to stay in their homes, but there are no standard ways to classify need for functional support in home and community care settings. The goal of this project was to develop an evidence-based clinical tool to inform service planning while allowing for flexibility in care coordinator judgment in response to patient and family circumstances. Methods The sample included 128,169 Ontario home care patients assessed in 2013 and 25,800 Ontario community support clients assessed between 2014 and 2016. Independent variables were drawn from the Resident Assessment Instrument-Home Care and interRAI Community Health Assessment that are standardised, comprehensive, and fully compatible clinical assessments. Clinical expertise and regression analyses identified candidate variables that were entered into decision tree models. The primary dependent variable was the weekly hours of personal support calculated based on the record of billed services. Results The Personal Support Algorithm classified need for personal support into six groups with a 32-fold difference in average billed hours of personal support services between the highest and lowest group. The algorithm explained 30.8% of the variability in billed personal support services. Care coordinators and managers reported that the guidelines based on the algorithm classification were consistent with their clinical judgment and current practice. Conclusions The Personal Support Algorithm provides a structured yet flexible decision-support framework that may facilitate a more transparent and equitable approach to the allocation of personal support services.

Genetic evidence and new morphometric data as essential tools to identify the Patagonian seahorse Hippocampus patagonicus (Pisces, Syngnathidae).

Science.gov (United States)

González, R; Dinghi, P; Corio, C; Medina, A; Maggioni, M; Storero, L; Gosztonyi, A

2014-02-01

A genetic study to support morphometric analyses was used to improve the description and validate the Patagonian seahorse Hippocampus patagonicus (Syngnathidae) on the basis of a large number of specimens collected in the type locality (San Antonio Bay, Patagonia, Argentina). DNA sequence data (from the cytochrome b region of the mitochondrial genome) were used to differentiate this species from its relatives cited for the west Atlantic Ocean. Both phylogenetic and genetic distance analyses supported the hypothesis that H. patagonicus is a species clearly differentiated from others, in agreement with morphometric studies. Hippocampus patagonicus can be distinguished from Hippocampus erectus by the combination of the following morphometric characteristics: (1) in both sexes and all sizes of H. patagonicus, the snout length is always less than the postorbital length, whereas the snout length of H. erectus is not shorter than the postorbital length in the largest specimens; (2) in both sexes of H. patagonicus, the trunk length:total length (LTr :LT ) is lower than in H. erectus (in female H. patagonicus: 0·27-0·39, H. erectus: 0·36-0·40 and in male H. patagonicus: 0·24-0·34, H. erectus: 0·33-0·43) and (3) in both sexes, tail length:total length (LTa :LT ) in H. patagonicus is larger than in H. erectus (0·61-0·78 v. 0·54-0·64). © 2014 The Fisheries Society of the British Isles.

Is the higher rate of parental child homicide in stepfamilies an effect of non-genetic relatedness?

Directory of Open Access Journals (Sweden)

Hans TEMRIN, Johanna NORDLUND, Mikael RYING, Birgitta S. TULLBERG

2011-06-01

Full Text Available In an evolutionary perspective individuals are expected to vary the degree of parental love and care in relation to the fitness value that a child represents. Hence, stepparents are expected to show less solicitude than genetically related parents, and this lack of genetic relatedness has been used to explain the higher frequencies of child abuse and homicide found in stepfamilies. However, other factors than non-genetic relatedness may cause this over-representation in stepfamilies. Here we use a 45-year data set of parental child homicides in Sweden to test two hypotheses related to the higher incidence in stepfamilies: 1 adults in different types of family differ in their general disposition to use violence, and 2 parents are more likely to kill stepchildren than genetically related children. Of the 152 perpetrators in biparental families there was an overrepresentation of perpetrators in stepfamilies (n=27 compared with the general population. We found support for the first hypothesis in that both general and violent crime rates were higher in stepfamilies, both in the general population and among perpetrators of child homicide. However, we found no support for the second hypothesis because of the 27 perpetrators in stepfamilies the perpetrator killed a genetically related child in 13 cases, a stepchild in 13 cases and both types of children in one case. Moreover, out of the 12 families where the perpetrator lived with both stepchildren and genetic children, there was no bias towards killing stepchildren. Thus, we found no evidence for an effect of non-genetic relatedness per se [Current Zoology 57 (3: 253–259, 2011].

Genetic evidence for multiple sources of the non-native fish Cichlasoma urophthalmus (Günther; Mayan Cichlids in southern Florida.

Directory of Open Access Journals (Sweden)

Elizabeth Harrison

Full Text Available The number and diversity of source populations may influence the genetic diversity of newly introduced populations and affect the likelihood of their establishment and spread. We used the cytochrome b mitochondrial gene and nuclear microsatellite loci to identify the sources of a successful invader in southern Florida, USA, Cichlasoma urophthalmus (Mayan cichlid. Our cytochrome b data supported an introduction from Guatemala, while our microsatellite data suggested movement of Mayan Cichlids from the upper Yucatán Peninsula to Guatemala and introductions from Guatemala and Belize to Florida. The mismatch between mitochondrial and nuclear genomes suggests admixture of a female lineage from Guatemala, where all individuals were fixed for the mitochondrial haplotype found in the introduced population, and a more diverse but also relatively small number of individuals from Belize. The Florida cytochrome b haplotype appears to be absent from Belize (0 out of 136 fish screened from Belize had this haplotype. Genetic structure within the Florida population was minimal, indicating a panmictic population, while Mexican and Central American samples displayed more genetic subdivision. Individuals from the Upper Yucatán Peninsula and the Petén region of Guatemala were more genetically similar to each other than to fish from nearby sites and movement of Mayan Cichlids between these regions occurred thousands of generations ago, suggestive of pre-Columbian human transportation of Mayan Cichlids through this region. Mayan Cichlids present a rare example of cytonuclear disequilibrium and reduced genetic diversity in the introduced population that persists more than 30 years (at least 7-8 generations after introduction. We suggest that hybridization occurred in ornamental fish farms in Florida and may contribute their establishment in the novel habitat. Hybridization prior to release may contribute to other successful invasions.

Genetic evidence for multiple sources of the non-native fish Cichlasoma urophthalmus (Günther; Mayan Cichlids) in southern Florida.

Science.gov (United States)

Harrison, Elizabeth; Trexler, Joel C; Collins, Timothy M; Vazquez-Domínguez, Ella; Razo-Mendivil, Ulises; Matamoros, Wilfredo A; Barrientos, Christian

2014-01-01

The number and diversity of source populations may influence the genetic diversity of newly introduced populations and affect the likelihood of their establishment and spread. We used the cytochrome b mitochondrial gene and nuclear microsatellite loci to identify the sources of a successful invader in southern Florida, USA, Cichlasoma urophthalmus (Mayan cichlid). Our cytochrome b data supported an introduction from Guatemala, while our microsatellite data suggested movement of Mayan Cichlids from the upper Yucatán Peninsula to Guatemala and introductions from Guatemala and Belize to Florida. The mismatch between mitochondrial and nuclear genomes suggests admixture of a female lineage from Guatemala, where all individuals were fixed for the mitochondrial haplotype found in the introduced population, and a more diverse but also relatively small number of individuals from Belize. The Florida cytochrome b haplotype appears to be absent from Belize (0 out of 136 fish screened from Belize had this haplotype). Genetic structure within the Florida population was minimal, indicating a panmictic population, while Mexican and Central American samples displayed more genetic subdivision. Individuals from the Upper Yucatán Peninsula and the Petén region of Guatemala were more genetically similar to each other than to fish from nearby sites and movement of Mayan Cichlids between these regions occurred thousands of generations ago, suggestive of pre-Columbian human transportation of Mayan Cichlids through this region. Mayan Cichlids present a rare example of cytonuclear disequilibrium and reduced genetic diversity in the introduced population that persists more than 30 years (at least 7-8 generations) after introduction. We suggest that hybridization occurred in ornamental fish farms in Florida and may contribute their establishment in the novel habitat. Hybridization prior to release may contribute to other successful invasions.

Further Evidence in Support of the Universal Nilpotent Grammatical Computational Paradigm of Quantum Physics

International Nuclear Information System (INIS)

Marcer, Peter J.; Rowlands, Peter

2010-01-01

hypothesize on substantial evidence [26], includes that of the RNA / DNA genetic code and, as holographic phase encodings / holograms, the 4D geometries of all living systems as self-organised grammatical computational rewrite machines / machinery. Human brains, natural grammatical (written symbol) languages, 4D geometric self-awareness and a totally new emergent property of matter, human consciousness, can thus with some measure of confidence be postulated as further genetic consequences which follow from this self-organizing fundamental rewrite NUCRS construction. For it, like natural language, possesses a semantics and not just a syntax, where the initial symbol, i.e. the arbitrary fixed phase measurement standard, is able to function as the template for the blueprints of the emergent 4D relativistic real and virtual geometries to come, in a 'from the Self Creation to the creation of the human self' computational rewrite process evolution.

Brief Report: An Independent Replication and Extension of Psychometric Evidence Supporting the Theory of Mind Inventory

Science.gov (United States)

Greenslade, Kathryn J.; Coggins, Truman E.

2016-01-01

This study presents an independent replication and extension of psychometric evidence supporting the "Theory of Mind Inventory" ("ToMI"). Parents of 20 children with ASD (4; 1-6; 7 years; months) and 20 with typical development (3; 1-6; 5), rated their child's theory of mind abilities in everyday situations. Other parent report…

Is there evidence to support a forefoot strike pattern in barefoot runners? A review.

Science.gov (United States)

Lorenz, Daniel S; Pontillo, Marisa

2012-11-01

Barefoot running is a trend among running enthusiasts that is the subject of much controversy. At this time, benefits appear to be more speculative and anecdotal than evidence based. Additionally, the risk of injuries is not well established. A PubMed search was undertaken for articles published in English from 1980 to 2011. Additional references were accrued from reference lists of research articles. While minimal data exist that definitively support barefoot running, there are data lending support to the argument that runners should use a forefoot strike pattern in lieu of a heel strike pattern to reduce ground reaction forces, ground contact time, and step length. Whether there is a positive or negative effect on injury has yet to be determined. Unquestionably, more research is needed before definitive conclusions can be drawn.

Genetic influences on alcohol-related hangover.

Science.gov (United States)

Slutske, Wendy S; Piasecki, Thomas M; Nathanson, Lisa; Statham, Dixie J; Martin, Nicholas G

2014-12-01

To quantify the relative contributions of genetic and environmental factors to alcohol hangover. Biometric models were used to partition the variance in hangover phenotypes. A community-based sample of Australian twins. Members of the Australian Twin Registry, Cohort II who reported consuming alcohol in the past year when surveyed in 2004-07 (n = 4496). Telephone interviews assessed participants' frequency of drinking to intoxication and frequency of hangover the day after drinking. Analyses examined three phenotypes: hangover frequency, hangover susceptibility (i.e. residual variance in hangover frequency after accounting for intoxication frequency) and hangover resistance (a dichotomous variable defined as having been intoxicated at least once in the past year with no reported hangovers). Genetic factors accounted for 45% [95% confidence interval (CI) = 37-53%] and 40% (95% CI = 33-48%) of the variation in hangover frequency in men and women, respectively. Most of the genetic variation in hangover frequency overlapped with genetic contributions to intoxication frequency. Genetic influences accounted for 24% (95% CI = 14-35%) and 16% (95% CI = 8-25%) of the residual hangover susceptibility variance in men and women, respectively. Forty-three per cent (95% CI = 22-63%) of the variation in hangover resistance was explained by genetic influences, with no evidence for significant sex differences. There was no evidence for shared environmental influences for any of the hangover phenotypes. Individual differences in the propensity to experience a hangover and of being resistant to hangover at a given level of alcohol use are genetically influenced. © 2014 Society for the Study of Addiction.

Campora: a young genetic isolate in South Italy.

Science.gov (United States)

Colonna, Vincenza; Nutile, Teresa; Astore, Maria; Guardiola, Ombretta; Antoniol, Giuliano; Ciullo, Marina; Persico, M Graziella

2007-01-01

Genetic isolates have been successfully used in the study of complex traits, mainly because due to their features, they allow a reduction in the complexity of the genetic models underlying the trait. The aim of the present study is to describe the population of Campora, a village in the South of Italy, highlighting its properties of a genetic isolate. Both historical evidence and multi-locus genetic data (genomic and mitochondrial DNA polymorphisms) have been taken into account in the analyses. The extension of linkage disequilibrium (LD) regions has been evaluated on autosomes and on a region of the X chromosome. We defined a study sample population on the basis of the genealogy and exogamy data. We found in this population a few different mitochondrial and Y chromosome haplotypes and we ascertained that, similarly to other isolated populations, in Campora LD extends over wider region compared to large and genetically heterogeneous populations. These findings indicate a conspicuous genetic homogeneity in the genome. Finally, we found evidence for a recent population bottleneck that we propose to interpret as a demographic crisis determined by the plague of the 17th century. Overall our findings demonstrate that Campora displays the genetic characteristics of a young isolate. Copyright (c) 2007 S. Karger AG, Basel.

Genetics of human hydrocephalus

Science.gov (United States)

Williams, Michael A.; Rigamonti, Daniele

2006-01-01

Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

Resistance to hepatitis C virus: potential genetic and immunological determinants.

Science.gov (United States)

Mina, Michael M; Luciani, Fabio; Cameron, Barbara; Bull, Rowena A; Beard, Michael R; Booth, David; Lloyd, Andrew R

2015-04-01

Studies of individuals who were highly exposed but seronegative (HESN) for HIV infection led to the discovery that homozygosity for the Δ32 deletion mutation in the CCR5 gene prevents viral entry into target cells, and is associated with resistance to infection. Additionally, evidence for protective immunity has been noted in some HESN groups, such as sex workers in The Gambia. Population studies of individuals at high risk for hepatitis C virus infection suggest that an HESN phenotype exists. The body of evidence, which suggests that protective immunity allows clearance of hepatitis C virus without seroconversion is growing. Furthermore, proof-of-principle evidence from in-vitro studies shows that genetic polymorphisms can confer resistance to establishment of infection. This Review discusses the possibility that genetic mutations confer resistance against hepatitis C virus, and also explores evidence for protective immunity, including via genetically programmed variations in host responses. The data generally strengthens the notion that investigations of naturally arising polymorphisms within the hepatitis C virus interactome, and genetic association studies of well characterised HESN individuals, could identify potential targets for vaccine design and inform novel therapies. Copyright © 2015 Elsevier Ltd. All rights reserved.

The possibility of aromorphosis in further development of closed human life support systems using genetically modified organisms

Science.gov (United States)

Gitelson, Josef

evolution of the CES, the use of the advantages offered by genetically modified organisms produced by modern biotechnology can be regarded as aromorphosis. If the genetic program of biosyntheses performed by plants in-cludes the new genes that will program the synthesis of all molecules necessary for humans, the plants, both unicellular and higher, will produce the whole range of food substances perfectly corresponding to the requirements of the human body. This is a long way, but the investment of resources and time will be justified not only by the creation of an LSS for long-distance space missions and colonization of planets that will contain as many closed loops as possible and be energy efficient. This will also be a convenient and safest instrument to study and justify the wide use of products of genetically modified plants on Earth. Today, humanity is extremely wary of this idea because of its novelty. As experimental human life support ecosystems are closed systems, they provide the most reliable and safest instrument for studying issues related to GMO and preparing scientifically based suggestions for their practical use. The report will contain data on the spectra of mismatches between vegetable foods produced in BIOS-3 and human requirements, and the objectives of correcting the biosynthesis programs in the CES.

[Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

Science.gov (United States)

Monteiro, Ana; Massano, João; Leão, Miguel; Garrett, Carolina

2017-04-28

The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

Fossil and Genetic Evidence for the Polyphyletic Nature of the Planktonic Foraminifera "Globigerinoides", and Description of the New Genus Trilobatus

Science.gov (United States)

Spezzaferri, Silvia; Kucera, Michal; Pearson, Paul Nicholas; Wade, Bridget Susan; Rappo, Sacha; Poole, Christopher Robert; Morard, Raphaël; Stalder, Claudio

2015-01-01

Planktonic foraminifera are one of the most abundant and diverse protists in the oceans. Their utility as paleo proxies requires rigorous taxonomy and comparison with living and genetically related counterparts. We merge genetic and fossil evidence of “Globigerinoides”, characterized by supplementary apertures on spiral side, in a new approach to trace their “total evidence phylogeny” since their first appearance in the latest Paleogene. Combined fossil and molecular genetic data indicate that this genus, as traditionally understood, is polyphyletic. Both datasets indicate the existence of two distinct lineages that evolved independently. One group includes “Globigerinoides” trilobus and its descendants, the extant “Globigerinoides” sacculifer, Orbulina universa and Sphaeroidinella dehiscens. The second group includes the Globigerinoides ruber clade with the extant G. conglobatus and G. elongatus and ancestors. In molecular phylogenies, the trilobus group is not the sister taxon of the ruber group. The ruber group clusters consistently together with the modern Globoturborotalita rubescens as a sister taxon. The re-analysis of the fossil record indicates that the first “Globigerinoides” in the late Oligocene are ancestral to the trilobus group, whereas the ruber group first appeared at the base of the Miocene with representatives distinct from the trilobus group. Therefore, polyphyly of the genus "Globigerinoides" as currently defined can only be avoided either by broadening the genus concept to include G. rubescens and a large number of fossil species without supplementary apertures, or if the trilobus group is assigned to a separate genus. Since the former is not feasible due to the lack of a clear diagnosis for such a broad genus, we erect a new genus Trilobatus for the trilobus group (type species Globigerina triloba Reuss) and amend Globoturborotalita and Globigerinoides to clarify morphology and wall textures of these genera. In the new

Shallow Population Genetic Structures of Thread-sail Filefish ( Populations from Korean Coastal Waters

Directory of Open Access Journals (Sweden)

M. Yoon

2012-02-01

Full Text Available Genetic diversities, population genetic structures and demographic histories of the thread-sail filefish Stephanolepis cirrhifer were investigated by nucleotide sequencing of 336 base pairs of the mitochondrial DNA (mtDNA control region in 111 individuals collected from six populations in Korean coastal waters. A total of 70 haplotypes were defined by 58 variable nucleotide sites. The neighbor-joining tree of the 70 haplotypes was shallow and did not provide evidence of geographical associations. Expansion of S. cirrhifer populations began approximate 51,000 to 102,000 years before present, correlating with the period of sea level rise since the late Pleistocene glacial maximum. High levels of haplotype diversities (0.974±0.029 to 1.000±0.076 and nucleotide diversities (0.014 to 0.019, and low levels of genetic differentiation among populations inferred from pairwise population FST values (−0.007 to 0.107, support an expansion of the S. cirrhifer population. Hierarchical analysis of molecular variance (AMOVA revealed weak but significant genetic structures among three groups (FCT = 0.028, p<0.05, and no genetic variation within groups (0.53%; FSC = 0.005, p = 0.23. These results may help establish appropriate fishery management strategies for stocks of S. cirrhifer and related species.

Screw Remaining Life Prediction Based on Quantum Genetic Algorithm and Support Vector Machine

Directory of Open Access Journals (Sweden)

Xiaochen Zhang

2017-01-01

Full Text Available To predict the remaining life of ball screw, a screw remaining life prediction method based on quantum genetic algorithm (QGA and support vector machine (SVM is proposed. A screw accelerated test bench is introduced. Accelerometers are installed to monitor the performance degradation of ball screw. Combined with wavelet packet decomposition and isometric mapping (Isomap, the sensitive feature vectors are obtained and stored in database. Meanwhile, the sensitive feature vectors are randomly chosen from the database and constitute training samples and testing samples. Then the optimal kernel function parameter and penalty factor of SVM are searched with the method of QGA. Finally, the training samples are used to train optimized SVM while testing samples are adopted to test the prediction accuracy of the trained SVM so the screw remaining life prediction model can be got. The experiment results show that the screw remaining life prediction model could effectively predict screw remaining life.

A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

Directory of Open Access Journals (Sweden)

Anouk Georges

Full Text Available A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

Science.gov (United States)

Georges, Anouk; Cambisano, Nadine; Ahariz, Naïma; Karim, Latifa; Georges, Michel

2013-01-01

A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

The genetics of human longevity: an intricacy of genes, environment, culture and microbiome.

Science.gov (United States)

Dato, Serena; Rose, Giuseppina; Crocco, Paolina; Monti, Daniela; Garagnani, Paolo; Franceschi, Claudio; Passarino, Giuseppe

2017-07-01

Approximately one-quarter of the variation in lifespan in developed countries can be attributed to genetic factors. However, even large population based studies investigating genetic influence on human lifespan have been disappointing, identifying only a few genes accounting for genetic susceptibility to longevity. Some environmental and lifestyle determinants associated with longevity have been identified, which interplay with genetic factors in an intricate way. The study of gene-environment and gene-gene interactions can significantly improve our chance to disentangle this complex scenario. In this review, we first describe the most recent approaches for genetic studies of longevity, from those enriched with health parameters and frailty measures to pathway-based and SNP-SNP interaction analyses. Then, we go deeper into the concept of "environmental influences" in human aging and longevity, focusing on the contribution of life style changes, social and cultural influences, as important determinants of survival differences among individuals in a population. Finally, we discuss the contribution of the microbiome in human longevity, as an example of complex interaction between organism and environment. In conclusion, evidences collected from the latest studies on human longevity provide a support for the collection of life-long genetic and environmental/lifestyle variables with beneficial or detrimental effects on health, to improve our understanding of the determinants of human lifespan. Copyright © 2017 Elsevier B.V. All rights reserved.

Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

Science.gov (United States)

Olwi, Duaa; Merdad, Leena; Ramadan, Eman

2016-01-01

Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

Aquaculture-oriented genetic researches in abalone: Current status ...

African Journals Online (AJOL)

Hybridization, triploidization and genetic mapping were also briefly reviewed as aquaculture-oriented genetic techniques to improve growth and other commercially important traits. Cryopreservation and other biotechnologies potentially applicable on genetic improvement were also briefly mentioned as supporting tools for ...

The African Genome Variation Project shapes medical genetics in Africa

Science.gov (United States)

Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O.; Choudhury, Ananyo; Ritchie, Graham R. S.; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N.; Young, Elizabeth H.; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P.; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A.; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S.

2014-01-01

Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterisation of African genetic diversity is needed. The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across SSA. We identify new loci under selection, including for malaria and hypertension. We show that modern imputation panels can identify association signals at highly differentiated loci across populations in SSA. Using WGS, we show further improvement in imputation accuracy supporting efforts for large-scale sequencing of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa, showing for the first time that such designs are feasible. PMID:25470054

DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases.

Science.gov (United States)

Queralt-Rosinach, Núria; Piñero, Janet; Bravo, Àlex; Sanz, Ferran; Furlong, Laura I

2016-07-15

DisGeNET-RDF makes available knowledge on the genetic basis of human diseases in the Semantic Web. Gene-disease associations (GDAs) and their provenance metadata are published as human-readable and machine-processable web resources. The information on GDAs included in DisGeNET-RDF is interlinked to other biomedical databases to support the development of bioinformatics approaches for translational research through evidence-based exploitation of a rich and fully interconnected linked open data. http://rdf.disgenet.org/ support@disgenet.org. © The Author 2016. Published by Oxford University Press.

JRC GMO-Matrix: a web application to support Genetically Modified Organisms detection strategies.

Science.gov (United States)

Angers-Loustau, Alexandre; Petrillo, Mauro; Bonfini, Laura; Gatto, Francesco; Rosa, Sabrina; Patak, Alexandre; Kreysa, Joachim

2014-12-30

The polymerase chain reaction (PCR) is the current state of the art technique for DNA-based detection of Genetically Modified Organisms (GMOs). A typical control strategy starts by analyzing a sample for the presence of target sequences (GM-elements) known to be present in many GMOs. Positive findings from this "screening" are then confirmed with GM (event) specific test methods. A reliable knowledge of which GMOs are detected by combinations of GM-detection methods is thus crucial to minimize the verification efforts. In this article, we describe a novel platform that links the information of two unique databases built and maintained by the European Union Reference Laboratory for Genetically Modified Food and Feed (EU-RL GMFF) at the Joint Research Centre (JRC) of the European Commission, one containing the sequence information of known GM-events and the other validated PCR-based detection and identification methods. The new platform compiles in silico determinations of the detection of a wide range of GMOs by the available detection methods using existing scripts that simulate PCR amplification and, when present, probe binding. The correctness of the information has been verified by comparing the in silico conclusions to experimental results for a subset of forty-nine GM events and six methods. The JRC GMO-Matrix is unique for its reliance on DNA sequence data and its flexibility in integrating novel GMOs and new detection methods. Users can mine the database using a set of web interfaces that thus provide a valuable support to GMO control laboratories in planning and evaluating their GMO screening strategies. The platform is accessible at http://gmo-crl.jrc.ec.europa.eu/jrcgmomatrix/ .

Biochemical genetic variation between four populations of ...

African Journals Online (AJOL)

system) to 0.093 in the Spekboom River population (Limpopo River system). The genetic distance, FST and NEM values, as well as pair-wise contingency c2 analyses indicate a lack of gene flow between populations, as expected for isolated fish. Evidence of foreign genetic material in one population was also observed.

[Genetics factors in pathogenesis and clinical genetics of binge eating disorder].

Science.gov (United States)

Kibitov, А О; Мazo, G E

2016-01-01

Genetic studies have shown that binge eating disorder (ВЕD) aggregates in families, heritability was estimated as about 60% and additive genetic influences on BED up to 50%. Using a genetic approach has proved useful for verifying the diagnostic categories of BED using DSM-IV criteria and supporting the validity of considering this pathology as a separate nosological category. The results confirmed the genetic and pathogenic originality of BED as a separate psychopathological phenomenon, but not a subtype of obesity. It seems fruitful to considerate BED as a disease with hereditary predisposition with significant genetic influence and a complex psychopathological syndrome, including not only eating disorders, but also depressive and addictive component. A possible mechanism of pathogenesis of BED may be the interaction of the neuroendocrine and neurotransmitters systems including the active involvement of the reward system in response to a variety of chronic stress influences with the important modulatory role of specific personality traits. The high level of genetic influence on the certain clinical manifestations of BED confirms the ability to identify the subphenotypes of BED on genetic basis involving clinical criteria. It can not only contribute to further genetic studies, taking into account more homogeneous samples, but also help in finding differentiated therapeutic approaches.

Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus

DEFF Research Database (Denmark)

Møller, A M; Jensen, N M; Pildal, J

2001-01-01

This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single-s......-tolerant subjects. In conclusion, we found no evidence supporting the hypothesis that genetic variability in the minimal promoter of the GLUT2 is associated with type 2 diabetes or prediabetic phenotypes in the Danish population.......This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single...

Controlling complexity: the clinical relevance of mouse complex genetics

Czech Academy of Sciences Publication Activity Database

Forejt, Jiří

2013-01-01

Roč. 21, č. 11 (2013), s. 1191-1196 ISSN 1018-4813 Institutional support: RVO:68378050 Keywords : Mouse model * Forward genetics * Rewiev Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 4.225, year: 2013

The correlation of fecundability among twins: Evidence of a genetic effect on fertility?

DEFF Research Database (Denmark)

Christensen, Kaare; Kohler, Hans-Peter; Basso, Olga

2003-01-01

BACKGROUND: Numerous rare genetic conditions are known to influence fecundability in both males and females. It is less clear to what extent more subtle genetic differences influence fecundability on a population level. METHODS: In 1994 a population-based survey was conducted among Danish twins b...

Life support decision making in critical care: Identifying and appraising the qualitative research evidence.

Science.gov (United States)

Giacomini, Mita; Cook, Deborah; DeJean, Deirdre

2009-04-01

The objective of this study is to identify and appraise qualitative research evidence on the experience of making life-support decisions in critical care. In six databases and supplementary sources, we sought original research published from January 1990 through June 2008 reporting qualitative empirical studies of the experience of life-support decision making in critical care settings. Fifty-three journal articles and monographs were included. Of these, 25 reported prospective studies and 28 reported retrospective studies. We abstracted methodologic characteristics relevant to the basic critical appraisal of qualitative research (prospective data collection, ethics approval, purposive sampling, iterative data collection and analysis, and any method to corroborate findings). Qualitative research traditions represented include grounded theory (n = 15, 28%), ethnography or naturalistic methods (n = 15, 28%), phenomenology (n = 9, 17%), and other or unspecified approaches (n = 14, 26%). All 53 documents describe the research setting; 97% indicate purposive sampling of participants. Studies vary in their capture of multidisciplinary clinician and family perspectives. Thirty-one (58%) report research ethics board review. Only 49% report iterative data collection and analysis, and eight documents (15%) describe an analytically driven stopping point for data collection. Thirty-two documents (60%) indicated a method for corroborating findings. Qualitative evidence often appears outside of clinical journals, with most research from the United States. Prospective, observation-based studies follow life-support decision making directly. These involve a variety of participants and yield important insights into interactions, communication, and dynamics. Retrospective, interview-based studies lack this direct engagement, but focus on the recollections of fewer types of participants (particularly patients and physicians), and typically address specific issues (communication and

Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates

Directory of Open Access Journals (Sweden)

Oliver Keith R

2011-05-01

Full Text Available Abstract Transposable elements (TEs are increasingly being recognized as powerful facilitators of evolution. We propose the TE-Thrust hypothesis to encompass TE-facilitated processes by which genomes self-engineer coding, regulatory, karyotypic or other genetic changes. Although TEs are occasionally harmful to some individuals, genomic dynamism caused by TEs can be very beneficial to lineages. This can result in differential survival and differential fecundity of lineages. Lineages with an abundant and suitable repertoire of TEs have enhanced evolutionary potential and, if all else is equal, tend to be fecund, resulting in species-rich adaptive radiations, and/or they tend to undergo major evolutionary transitions. Many other mechanisms of genomic change are also important in evolution, and whether the evolutionary potential of TE-Thrust is realized is heavily dependent on environmental and ecological factors. The large contribution of TEs to evolutionary innovation is particularly well documented in the primate lineage. In this paper, we review numerous cases of beneficial TE-caused modifications to the genomes of higher primates, which strongly support our TE-Thrust hypothesis.

Determinism and Underdetermination in Genetics: Implications for Students' Engagement in Argumentation and Epistemic Practices

Science.gov (United States)

Jiménez-Aleixandre, María Pilar

2014-02-01

In the last two decades science studies and science education research have shifted from an interest in products (of science or of learning), to an interest in processes and practices. The focus of this paper is on students' engagement in epistemic practices (Kelly in Teaching scientific inquiry: Recommendations for research and implementation. Sense Publishers, Rotterdam, pp 99-117, 2008), or on their practical epistemologies (Wickman in Sci Educ 88(3):325-344, 2004). In order to support these practices in genetics classrooms we need to take into account domain-specific features of the epistemology of genetics, in particular issues about determinism and underdetermination. I suggest that certain difficulties may be related to the specific nature of causality in genetics, and in particular to the correspondence between a given set of factors and a range of potential effects, rather than a single one. The paper seeks to bring together recent developments in the epistemology of biology and of genetics, on the one hand, with science education approaches about epistemic practices, on the other. The implications of these perspectives for current challenges in learning genetics are examined, focusing on students' engagement in epistemic practices, as argumentation, understood as using evidence to evaluate knowledge claims. Engaging in argumentation in genetics classrooms is intertwined with practices such as using genetics models to build explanations, or framing genetics issues in their social context. These challenges are illustrated with studies making part of our research program in the USC.

Seascape genetics along environmental gradients in the Arabian Peninsula: insights from ddRAD sequencing of anemonefishes

KAUST Repository

Saenz Agudelo, Pablo

2015-11-17

Understanding the processes that shape patterns of genetic structure across space is a central aim of landscape genetics. However, it remains unclear how geographic features and environmental variables shape gene flow, particularly for marine species in large complex seascapes. Here, we evaluated the genomic composition of the two-band anemonefish Amphiprion bicinctus across its entire geographic range in the Red Sea and Gulf of Aden, as well as its close relative, Amphiprion omanensis endemic to the southern coast of Oman. Both the Red Sea and the Arabian Sea are complex and environmentally heterogeneous marine systems that provide an ideal scenario to address these questions. Our findings confirm the presence of two genetic clusters previously reported for A. bicinctus in the Red Sea. Genetic structure analyses suggest a complex seascape configuration, with evidence of both Isolation by Distance (IBD) and Isolation by Environment (IBE). In addition to IBD and IBE, genetic structure among sites was best explained when two barriers to gene flow were also accounted for. One of these coincides with a strong oligotrophic-eutrophic gradient at around 16-20˚N in the Red Sea. The other agrees with an historical bathymetric barrier at the straight of Bab al Mandab. Finally, these data support the presence of inter-specific hybrids at an intermediate suture zone at Socotra and indicate complex patterns of genomic admixture in the Gulf of Aden with evidence of introgression between species. Our findings highlight the power of recent genomic approaches to resolve subtle patterns of gene flow in marine seascapes.

Seascape genetics along environmental gradients in the Arabian Peninsula: insights from ddRAD sequencing of anemonefishes

KAUST Repository

Saenz Agudelo, Pablo; DiBattista, Joseph; Piatek, Marek J.; Gaither, Michelle R.; Harrison, Hugo B.; Nanninga, Gerrit B.; Berumen, Michael L.

2015-01-01

Understanding the processes that shape patterns of genetic structure across space is a central aim of landscape genetics. However, it remains unclear how geographic features and environmental variables shape gene flow, particularly for marine species in large complex seascapes. Here, we evaluated the genomic composition of the two-band anemonefish Amphiprion bicinctus across its entire geographic range in the Red Sea and Gulf of Aden, as well as its close relative, Amphiprion omanensis endemic to the southern coast of Oman. Both the Red Sea and the Arabian Sea are complex and environmentally heterogeneous marine systems that provide an ideal scenario to address these questions. Our findings confirm the presence of two genetic clusters previously reported for A. bicinctus in the Red Sea. Genetic structure analyses suggest a complex seascape configuration, with evidence of both Isolation by Distance (IBD) and Isolation by Environment (IBE). In addition to IBD and IBE, genetic structure among sites was best explained when two barriers to gene flow were also accounted for. One of these coincides with a strong oligotrophic-eutrophic gradient at around 16-20˚N in the Red Sea. The other agrees with an historical bathymetric barrier at the straight of Bab al Mandab. Finally, these data support the presence of inter-specific hybrids at an intermediate suture zone at Socotra and indicate complex patterns of genomic admixture in the Gulf of Aden with evidence of introgression between species. Our findings highlight the power of recent genomic approaches to resolve subtle patterns of gene flow in marine seascapes.

GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

Directory of Open Access Journals (Sweden)

Khoury Muin J

2008-04-01

Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

A simple genetic incompatibility causes hybrid male sterility in mimulus.

Science.gov (United States)

Sweigart, Andrea L; Fishman, Lila; Willis, John H

2006-04-01

Much evidence has shown that postzygotic reproductive isolation (hybrid inviability or sterility) evolves by the accumulation of interlocus incompatibilities between diverging populations. Although in theory only a single pair of incompatible loci is needed to isolate species, empirical work in Drosophila has revealed that hybrid fertility problems often are highly polygenic and complex. In this article we investigate the genetic basis of hybrid sterility between two closely related species of monkeyflower, Mimulus guttatus and M. nasutus. In striking contrast to Drosophila systems, we demonstrate that nearly complete hybrid male sterility in Mimulus results from a simple genetic incompatibility between a single pair of heterospecific loci. We have genetically mapped this sterility effect: the M. guttatus allele at the hybrid male sterility 1 (hms1) locus acts dominantly in combination with recessive M. nasutus alleles at the hybrid male sterility 2 (hms2) locus to cause nearly complete hybrid male sterility. In a preliminary screen to find additional small-effect male sterility factors, we identified one additional locus that also contributes to some of the variation in hybrid male fertility. Interestingly, hms1 and hms2 also cause a significant reduction in hybrid female fertility, suggesting that sex-specific hybrid defects might share a common genetic basis. This possibility is supported by our discovery that recombination is reduced dramatically in a cross involving a parent with the hms1-hms2 incompatibility.

Evidence for genetic differentiation at the microgeographic scale in Phlebotomus papatasi populations from Sudan

Directory of Open Access Journals (Sweden)

Khalid Noteila M

2012-11-01

Full Text Available Abstract Background Cutaneous Leishmaniasis (CL is endemic in Sudan. It is caused by Leishmania major parasites and transmitted by Phlebotomus papatasi sandflies. Recently, uncommon clinical manifestations of CL have been reported. Moreover, L. donovani parasites that cause Visceral Leishmaniasis (VL have been isolated from CL lesions of some patients who contracted the disease in Khartoum State, Central Sudan with no history of travelling to VL endemic sites on south-eastern Sudan. Because different clinical manifestations and the parasite behaviour could be related to genetic differentiation, or even sub-structuring within sandfly vector populations, a population genetic study was conducted on P. papatasi populations collected from different localities in Khartoum State known for their uncommon CL cases and characterized by contrasting environmental conditions. Methods A set of seven microsatellite loci was used to investigate the population structure of P. papatasi samples collected from different localities in Khartoum State, Central Sudan. Populations from Kassala State, Eastern Sudan and Egypt were also included in the analyses as outgroups. The level of genetic diversity and genetic differentiation among natural populations of P. papatasi was determined using FST statistics and Bayesian assignments. Results Genetic analyses revealed significant genetic differentiation (FST between the Sudanese and the Egyptian populations. Within the Sudanese P. papatasi populations, one population from Gerif West, Khartoum State, exhibited significant genetic differentiation from all other populations including those collected as near as 22 km. Conclusion The significant genetic differentiation of Gerif West P. papatasi population from other Sudanese populations may have important implication for the epidemiology of leishmaniasis in Khartoum State and needs to be further investigated. Primarily, it could be linked to the unique location of Gerif West

Supporting Formulary Decisions: The Discovery of New Facts or Constructed Evidence?

Directory of Open Access Journals (Sweden)

Paul C Langley

2016-07-01

Full Text Available A critical question, given the growing importance of more targeted therapies to support personalized and precision medicine, is the credibility of the evidence base to support formulary decisions and pricing. On the one hand, for those who subscribe to the reference case model of the National Institute of Health and Care Excellence (NICE in the UK, the decision rests upon the creation of modeled or simulated imaginary worlds and the application of threshold willingness-to-pay cost-per-QALY thresholds. On the other hand, for those who subscribe to the standards of normal science, the decision rests upon the ability to evaluate competing claims, both clinical and cost-effective, in a timeframe that is meaningful to a formulary committee. If we subscribe to the scientific method where the focus is on the discovery of new facts, untestable claims for clinical benefit and cost-effectiveness, such as created claims for lifetime cost per-quality-adjusted discounted life years (QALYs, are properly relegated to the category of pseudoscience. We have no idea, and will never know, whether the claims are right or even if they are wrong. If formulary decisions are to respect the standards of normal science then there has to be a commitment to claims evaluation. A willingness to accept new products provisionally, subject to an agreed protocol to support the evaluation of clinical and cost-effectiveness claims. This dichotomy between the standards of normal science and pseudoscience is explored in the context of published claims for cost-effectiveness and recommendations for product pricing in the US.   Type: Commentary

Genetic Counsellors and Private Practice: Professional Turbulence and Common Values.

Science.gov (United States)

Collis, Sarah; Gaff, Clara; Wake, Samantha; McEwen, Alison

2017-12-27

Genetic counsellors face tensions between past and future identities: between established values and goals, and a broadening scope of settings and activities. This study examines the advent of genetic counsellors in private practice in Australia and New Zealand from the perspectives of the small numbers working in this sector and those who have only worked in public practice. Semi-structured interviews were conducted with 16 genetic counsellors who had experience in private practice, and 14 genetic counsellors without private sector experience. Results demonstrated that circumstantial and personal factors can mitigate the challenges experienced and the amount of support desired by those who had established a private practice, and those who were employed by private companies. Notably, most participants with private sector experience perceived themselves to be viewed negatively by other genetic counsellors. Most participants without private sector experience expressed concern that the challenges they believed genetic counsellors face in private practice may impact service quality, but wished to address such concerns by providing appropriate support. Together, our results reinforce that participants in private and public sectors are strong advocates for peer support, multidisciplinary team work, and professional development. These core values, and seeking understanding of different circumstances and support needs, will enable genetic counsellors in different sectors to move forward together. Our results suggest supports that may be acted upon by members of the profession, professional groups, and training programs, in Australia, New Zealand, and overseas.

Behavioral and genetic evidence for a novel animal model of Attention-Deficit/Hyperactivity Disorder Predominantly Inattentive Subtype

Directory of Open Access Journals (Sweden)

Zhang-James Y

2008-12-01

genomic differences between the WKY/NCrl and WKY/NHsd rats for eight short tandem repeat loci and 2625 SNPs. About 33.5 percent of the genome differs between the two WKY rat substrains, with large stretches of divergence on each chromosome. Discussion These data provide solid behavioral and genetic evidence that the WKY/NCrl and WKY/NHsd rats should be considered as separate substrains. Moreover, the behavioral features of the WKY/NCrl rat indicate that it should be a useful model for ADHD-PI, the primarily inattentive subtype of ADHD. The SD/NTac and the WH/HanTac rats show significant genetic and/or behavioral differences from WKY/NHsd rats and appear not to be appropriate controls in studies using the SHR/NCrl. The present results support the conclusion that SHR/NCrl is the best validated animal model of ADHD-C. The overactivity, impulsiveness and deficient sustained attention of the SHR/NCrl strain are independent behaviors. Thus, overactivity does not account for this strain's impulsiveness and deficient sustained attention. Finally, the present study shows that great care has to be exercised to select the model and comparison groups.

Circadian pathway genetic variation and cancer risk: evidence from genome-wide association studies.