A model of neurocognitive function in spina bifida over the life span

2006 ◽  
Vol 12 (2) ◽  
pp. 285-296 ◽  
Author(s):  
MAUREEN DENNIS ◽  
SUSAN H. LANDRY ◽  
MARCIA BARNES ◽  
JACK M. FLETCHER
Keyword(s):  
Environmental Factors ◽  
Spina Bifida ◽  
Movement Timing ◽  
Associative Processing ◽  
Domain Specific ◽  
Cognitive Phenotype ◽  
Naturally Occurring ◽  
Gene Environment ◽  
Environmental Events ◽  
The Impact

Spina bifida myelomeningocele (SBM), a neural tube defect that is the product of a complex pattern of gene-environment interactions, is associated with naturally occurring, systematic variability in the neural phenotype and in environmental factors that lead to systematic variability in the cognitive phenotype. We characterize the basis for variability in the cognitive phenotype of children with SBM with reference to a model of key biological, cognitive, and environmental events unfolding over the course of development from infancy to middle age. The cognitive phenotype is not domain-specific, but represents manifestations of unobservable constructs involving associative and assembled processing, the latter directly reflecting the impact of the neural phenotype on core deficits involving movement, timing, and attention orienting. The expression of the cognitive phenotype is variable, being moderated by features of the neural phenotype involving secondary CNS insults (such as hydrocephalus) that impair assembled processing, as well as by environmental factors (such as poverty, parenting, and education) that impair associative processing. The preservation of strengths in associative processing depends in part on the severity of the CNS deficits in SBM and the impact of the environment. (JINS, 2006, 12, 285–296.)

scholarly journals Impacts of Environmental Factors on Head and Neck Cancer Pathogenesis and Progression

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 389
Author(s):  
Marisol Miranda-Galvis ◽  
Reid Loveless ◽  
Luiz Paulo Kowalski ◽  
Yong Teng
Keyword(s):  
Head And Neck Cancer ◽  
Environmental Factors ◽  
Head And Neck ◽  
Neck Cancer ◽  
Molecular Mechanisms ◽  
Metastatic Cancer ◽  
Environmental Drivers ◽  
Cancer Pathogenesis ◽  
Gene Environment ◽  
The Impact

Epidemiological and clinical studies over the past two decades have provided strong evidence that genetic elements interacting with environmental components can individually and collectively influence one’s susceptibility to cancer. In addition to tumorigenic properties, numerous environmental factors, such as nutrition, chemical carcinogens, and tobacco/alcohol consumption, possess pro-invasive and pro-metastatic cancer features. In contrast to traditional cancer treatment, modern therapeutics not only take into account an individual’s genetic makeup but also consider gene–environment interactions. The current review sharpens the focus by elaborating on the impact that environmental factors have on the pathogenesis and progression of head and neck cancer and the underlying molecular mechanisms involved. Recent advances, challenges, and future perspectives in this area of research are also discussed. Inhibiting key environmental drivers of tumor progression should yield survival benefits for patients at any stage of head and neck cancer.

Gene–environment interplay in the etiology of psychosis

2018 ◽  
Vol 48 (12) ◽  
pp. 1925-1936 ◽  
Author(s):  
Alyson Zwicker ◽  
Eileen M. Denovan-Wright ◽  
Rudolf Uher
Keyword(s):  
Environmental Factors ◽  
Genetic Risk ◽  
Environmental Exposures ◽  
Response To Treatment ◽  
Human Potential ◽  
Specific Gene ◽  
Environment Interaction ◽  
Gene Environment ◽  
Increased Risk ◽  
The Impact

AbstractSchizophrenia and other types of psychosis incur suffering, high health care costs and loss of human potential, due to the combination of early onset and poor response to treatment. Our ability to prevent or cure psychosis depends on knowledge of causal mechanisms. Molecular genetic studies show that thousands of common and rare variants contribute to the genetic risk for psychosis. Epidemiological studies have identified many environmental factors associated with increased risk of psychosis. However, no single genetic or environmental factor is sufficient to cause psychosis on its own. The risk of developing psychosis increases with the accumulation of many genetic risk variants and exposures to multiple adverse environmental factors. Additionally, the impact of environmental exposures likely depends on genetic factors, through gene–environment interactions. Only a few specific gene–environment combinations that lead to increased risk of psychosis have been identified to date. An example of replicable gene–environment interaction is a common polymorphism in theAKT1gene that makes its carriers sensitive to developing psychosis with regular cannabis use. A synthesis of results from twin studies, molecular genetics, and epidemiological research outlines the many genetic and environmental factors contributing to psychosis. The interplay between these factors needs to be considered to draw a complete picture of etiology. To reach a more complete explanation of psychosis that can inform preventive strategies, future research should focus on longitudinal assessments of multiple environmental exposures within large, genotyped cohorts beginning early in life.

scholarly journals How to identify gene–environment interactions in a multifactorial disease: CHD as an example

2004 ◽  
Vol 63 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Philippa J. Talmud
Keyword(s):  
Environmental Factors ◽  
Context Dependency ◽  
Single Mutation ◽  
Small Contribution ◽  
Multifactorial Disease ◽  
Risk Environment ◽  
Chd Risk ◽  
Gene Environment ◽  
E4 Allele ◽  
The Impact

CHD is a multifactorial disease, caused by both genetic and environmental factors. The inherited 'defective' genes will vary from individual to individual, and any single mutation is likely to be making only a small contribution to risk. The context dependency, i.e. the importance of environmental factors in influencing genetic risk, is now becoming evident. Thus, a mutation may have a modest effect on risk in individuals who maintain a low environmental risk, but a major effect in a high-risk environment. Methods of analysing gene–environment interactions on CHD risk will be discussed and illustrated with several examples. APOE has three common alleles, ɛ2, ɛ3 and ɛ4. The ɛ4 allele has consistently been associated with CHD risk, which has been confirmed by meta-analysis. However, when the effect of genotype on risk was considered in smokers and non-smokers separately, risk in non-smokers was similar in all APOE genotypes. By comparison, in the smokers, ɛ3 homozygotes, as expected, had an approximately 2-fold higher risk, while for ɛ4 carriers there was a significantly greater than additive effect of genotype and smoking on risk (P ≫0.007). Thus, the impact of the ɛ4 allele on CHD risk appears to be confined to current smokers, an effect that has been confirmed in several studies. Another example is the interaction between the alcohol dehydrogenase 3 gene variant and alcohol consumption on CHD risk (P ≫0.001), showing the context dependency of the effect. Thus, the importance of considering environmental factors as potential genotype-risk modifiers has major public health implications.

scholarly journals The Impact of Environmental Factors on Monogenic Mendelian Diseases

2021 ◽  
Author(s):  
Anke M Tukker ◽  
Charmaine D Royal ◽  
Aaron B Bowman ◽  
Kimberly A McAllister
Keyword(s):  
Environmental Factors ◽  
Complex Disease ◽  
Health Science ◽  
Model Systems ◽  
Mendelian Disease ◽  
Disease Etiology ◽  
Mendelian Disorders ◽  
Mendelian Diseases ◽  
Gene Environment ◽  
The Impact

Abstract Environmental factors and gene-environment interactions modify the variable expressivity, progression, severity, and onset of some classic (monogenic) Mendelian-inherited genetic diseases. Cystic fibrosis, Huntington disease, Parkinson’s disease, and sickle cell disease are examples of well-known Mendelian disorders that are influenced by exogenous exposures. Environmental factors may act by direct or indirect mechanisms to modify disease severity, timing, and presentation, including through epigenomic influences, protein misfolding, miRNA alterations, transporter activity, and mitochondrial effects. Because pathological features of early-onset Mendelian diseases can mimic later onset complex diseases, we propose that studies of environmental exposure vulnerabilities using monogenic model systems of rare Mendelian diseases have high potential to provide insight into complex disease phenotypes arising from multi-genetic/multi-toxicant interactions. Mendelian disorders can be modeled by homologous mutations in animal model systems with strong recapitulation of human disease etiology and natural history, providing an important advantage for study of these diseases. Monogenic high penetrant mutations are ideal for toxicant challenge studies with a wide variety of environmental stressors, because background genetic variability may be less able to alter the relatively strong phenotype driving disease-causing mutations. These models promote mechanistic understandings of gene-environment interactions and biological pathways relevant to both Mendelian and related sporadic complex disease outcomes by creating a sensitized background for relevant environmental risk factors. Additionally, rare disease communities are motivated research participants, creating the potential of strong research allies among rare Mendelian disease advocacy groups and disease registries and providing a variety of translational opportunities that are under-utilized in genetic or environmental health science.

scholarly journals Impact of Gene–Environment Interactions on Cancer Development

2020 ◽  
Vol 17 (21) ◽  
pp. 8089
Author(s):  
Ariane Mbemi ◽  
Sunali Khanna ◽  
Sylvianne Njiki ◽  
Clement G. Yedjou ◽  
Paul B. Tchounwou
Keyword(s):  
Environmental Factors ◽  
Scientific Evidence ◽  
Critical Role ◽  
Experimental Studies ◽  
Joint Effect ◽  
Human Diseases ◽  
Nucleotide Polymorphisms ◽  
Gene Environment ◽  
Genetic And Environmental Factors ◽  
The Impact

Several epidemiological and experimental studies have demonstrated that many human diseases are not only caused by specific genetic and environmental factors but also by gene–environment interactions. Although it has been widely reported that genetic polymorphisms play a critical role in human susceptibility to cancer and other chronic disease conditions, many single nucleotide polymorphisms (SNPs) are caused by somatic mutations resulting from human exposure to environmental stressors. Scientific evidence suggests that the etiology of many chronic illnesses is caused by the joint effect between genetics and the environment. Research has also pointed out that the interactions of environmental factors with specific allelic variants highly modulate the susceptibility to diseases. Hence, many scientific discoveries on gene–environment interactions have elucidated the impact of their combined effect on the incidence and/or prevalence rate of human diseases. In this review, we provide an overview of the nature of gene–environment interactions, and discuss their role in human cancers, with special emphases on lung, colorectal, bladder, breast, ovarian, and prostate cancers.

Emotions and health: The impact of emotions, emotions regulation, music, and acculturation on health

2008 ◽  
Vol 16 (3) ◽  
pp. 112-115 ◽  
Author(s):  
Stephan Bongard ◽  
Volker Hodapp ◽  
Sonja Rohrmann
Keyword(s):  
Stress Responses ◽  
Physiological Stress ◽  
Anger Expression ◽  
Domain Specific ◽  
Cardiovascular Stress ◽  
Expression Behavior ◽  
Cardio Vascular ◽  
And Coping ◽  
Relationship Of ◽  
The Impact

Abstract. Our unit investigates the relationship of emotional processes (experience, expression, and coping), their physiological correlates and possible health outcomes. We study domain specific anger expression behavior and associated cardio-vascular loads and found e.g. that particularly an open anger expression at work is associated with greater blood pressure. Furthermore, we demonstrated that women may be predisposed for the development of certain mental disorders because of their higher disgust sensitivity. We also pointed out that the suppression of negative emotions leads to increased physiological stress responses which results in a higher risk for cardiovascular diseases. We could show that relaxation as well as music activity like singing in a choir causes increases in the local immune parameter immunoglobuline A. Finally, we are investigating connections between migrants’ strategy of acculturation and health and found e.g. elevated cardiovascular stress responses in migrants when they where highly adapted to the German culture.

Assessing the sustainability of the Siberian Federal District regions

2020 ◽  
Vol 18 (5) ◽  
pp. 891-908
Author(s):  
T.A. Smirnova
Keyword(s):  
Sustainable Development ◽  
Environmental Factors ◽  
Regional Development ◽  
Federal District ◽  
Integrated Approach ◽  
Siberian Federal District ◽  
The Sustainable Development ◽  
The Impact ◽  
Empirical Analyses

Subject. This article deals with the issues of functioning of the region as a system. Objectives. The article aims to identify the problems of the region's functioning as a system, develop methodological tools to monitor the sustainable development of the Siberian Federal District territories, and determine the the impact of socio-economic and environmental factors on the sustainable development of the region as a whole. Methods. For the study, I used the methods of theoretical, statistical, and empirical analyses taking into account an integrated approach. Results. The article reveals the impact of some individual components of regional development on the sustainability of the territorial system as a whole. Relevance. The results of the study can be used to analyze the sustainability of regions' development.

Directions of Accounting Environmental Factors for Forecasting Formation of Agroecosystems

2020 ◽  
pp. 31-35
Author(s):  
L.Z. Khalishkhova ◽  
◽  
A. Kh. Temrokova ◽  
I.R. Guchapsheva ◽  
K.A. Bogаtyreva ◽  
...  
Keyword(s):  
Sustainable Development ◽  
Comparative Analysis ◽  
Environmental Factors ◽  
Environmental Safety ◽  
Logical Analysis ◽  
Management Decisions ◽  
The Sustainable Development ◽  
The Impact

Ensuring the sustainable development of agroecosystems requires research into the justification of the impact of environmental factors on the formation of territorial agroecosystems and identifies ways to take them into account in order to justify management decisions and ensure environmental safety. The main goal of the research within the article is to identify the most significant environmental factors in predicting the formation of agroecosystems. Provisions are devoted to the study of the laws governing the functioning of agroecosystems in order to increase their stability. The methods of comparative analysis, generalization, abstraction, logical analysis are applied. A number of provisions are formulated regarding ways to account for the influence of factors on the formation of key elements of agroecosystems.

scholarly journals Mapping domain characteristics influencing Analytics initiatives: The example of Supply Chain Analytics

2020 ◽  
Vol 13 (1) ◽  
pp. 56
Author(s):  
Tino Herden
Keyword(s):  
Supply Chain ◽  
Supply Chain Management ◽  
Success Factors ◽  
Research Collaboration ◽  
Future Research ◽  
Structured Interviews ◽  
Chain Management ◽  
Domain Specific ◽  
The Status ◽  
The Impact

Purpose: Analytics research is increasingly divided by the domains Analytics is applied to. Literature offers little understanding whether aspects such as success factors, barriers and management of Analytics must be investigated domain-specific, while the execution of Analytics initiatives is similar across domains and similar issues occur. This article investigates characteristics of the execution of Analytics initiatives that are distinct in domains and can guide future research collaboration and focus. The research was conducted on the example of Logistics and Supply Chain Management and the respective domain-specific Analytics subfield of Supply Chain Analytics. The field of Logistics and Supply Chain Management has been recognized as early adopter of Analytics but has retracted to a midfield position comparing different domains.Design/methodology/approach: This research uses Grounded Theory based on 12 semi-structured Interviews creating a map of domain characteristics based of the paradigm scheme of Strauss and Corbin.Findings: A total of 34 characteristics of Analytics initiatives that distinguish domains in the execution of initiatives were identified, which are mapped and explained. As a blueprint for further research, the domain-specifics of Logistics and Supply Chain Management are presented and discussed.Originality/value: The results of this research stimulates cross domain research on Analytics issues and prompt research on the identified characteristics with broader understanding of the impact on Analytics initiatives. The also describe the status-quo of Analytics. Further, results help managers control the environment of initiatives and design more successful initiatives.

scholarly journals The impact of neurogenic bladder bowel dysfunction in the sexuality of female spina bifida patients

2021 ◽  
Author(s):  
Guilherme Lang Motta ◽  
Yesica Quiróz ◽  
Erika Llorens ◽  
Anna Bujons ◽  
Tiago Elias Rosito
Keyword(s):  
Spina Bifida ◽  
Neurogenic Bladder ◽  
Bowel Dysfunction ◽  
Bladder Bowel Dysfunction ◽  
The Impact
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