Presence Of Environmental Factors Research Articles

Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

Alterations observed in the interferon \u03b1 and \u03b2 signaling pathway in MDD patients are marginally influenced by cis-acting alleles

Major depressive disorder (MDD) is a common psychiatric disorder with a multifactorial aetiology determined by the interaction between genetic and environmental risk factors. Pieces of evidence indicate that inflammation and immune activation may contribute to the onset of MDD playing a role in the pathogenetic mechanism. To date, it is not known to which extent the association between MDD and inflammation is shaped by the genetic background or by the presence of environmental factors. To clarify this issue, we analyzed genotype and blood RNA profiles of 463 MDD cases and 459 controls (NIMH-Study 88/Site621) estimating the Genetic and Environmental Regulated eXpression component of gene expression (GReX and EReX respectively). Both components were tested for association with MDD. Many genes belonging to the α/β interferon signaling pathway showed an association between MDD and EReX, only two between MDD and GReX. Also other MDD differentially expressed genes were more influenced by the EReX than by GReX. These results suggest that impact of the genetic background on MDD blood gene expression alterations is much lower than the contribution of environmental factors and almost absent for the genes of the interferon pathway.

Cystic fibrosis and exocrine pancreatic insufficiency

Cystic fibrosis (CF) is a genetic disease affecting many organs including the gastrointestinal tract. While the pulmonary damage is the most life threatening, the pancreas is one of the first and most affected organs by CF. Mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene results in a reduced volume of pancreatic juice and hyperconcentration of macromolecules leading to precipitation in the duct lumina, causing obstruction and damage. The clinical presentation of individual cases depends on a combination of different CFTR mutations, potential presence of modifier genes mutations, and environmental factors. The CFTR mutations are historically divided into 5 classes - severe mutations (classes I-III) and mild mutations (classes IV-V). The CFTR functional status depends on the combined effects of both CFTR allels and the severity of the phenotype depends on the milder mutation. The majority of CF patients exhibit exocrine pancreatic insufficiency in early childhood because functional acinar tissue has been lost in utero or soon after birth. These patients rarely suffer from pancreatic complications such as recurrent acute pancreatitis and/or chronic pancreatitis which, on contrary, can occur in the minority of patients who possess residual pancreatic exocrine function. CFTR mutations are found more frequently in idiopathic and alcoholic chronic pancreatitis but the data is conflicting. A combination with SPINK-1 mutations can be found in idiopathic chronic pancreatitis group, as well as presence of environmental factors. Malnutrition is directly related to worse prognosis of CF patients and delivery of active digestive enzymes is a cornerstone of the treatment with acid supression and vitamins supplementation playing an important additional role.

Controlling the entropic uncertainty lower bound in two-qubit systems under decoherence

The uncertainty principle is an inherent characteristic of quantum mechanics. This principle can be formulated in various forms. Fundamentally, this principle can be expressed in terms of the standard deviation of the measured observables. In quantum information theory, the preferred mathematical quantity to express the entropic uncertainty relation is Shannon’s entropy. In this work, we consider the generalized entropic uncertainty relation in which there is an additional particle as a quantum memory. Alice measures on her particle A and Bob, with memory particle B, predicts Alice’s measurement outcomes. It has a wide range of applications, for example, entanglement witnessing and quantum key distribution. We study the effects of the environment on the entropic uncertainty lower bound in the presence of weak measurement and measurement reversal. The dynamical model that is intended in this work is as follows: first the weak measurement is performed, second, the decoherence affects the system and finally the measurement reversal is performed on the quantum system. Here, we consider the generalized amplitude damping channel and depolarizing channel as environmental noises. We will show that in the presence of weak measurement and measurement reversal, despite the presence of environmental factors, the entropic uncertainty lower bound drops to an optimal minimum value. In fact, weak measurement and measurement reversal enhance the quantum correlation between the subsystems A and B, and thus the uncertainty of Bob regarding Alice’s measurement outcomes reduces. Based on the entropic uncertainty relation, one can also show that the weak measurement and measurement reversal can preserve the quantum secret key rate lower bound from decoherence.

A New Perspective on Earnings Management in Emerging European Countries: Investigation on Environmental Factors that Explain Differences in Earnings Management

This paper presents a new perspective on earnings management analyzing and comparing emerging European countries in the presence of environmental factors of developing countries. We provide empirical evidence on differences in the extent of earnings management across countries. Developing Eastern European countries experienced important changes. They have been in transition over the past decade, and remain making great strides to overcome the drag exerted by their communist heritage. Nevertheless, the studies on earnings management based on emerging economies are rare and hardly pursued due to the presence of institutional and regulatory differences between developed and emerging economies. Therefore, the present study fulfils the important gap in earnings management literature related to developing countries. Our results confirm that managers from different emerging European countries manage earnings differently. Additionally, we identify that there is not a sole reason affecting the managers’ decisions, but a significant number of circumstances and characteristics. Whether a firm’s environment offers more protection or is characterized by a higher level of development, higher foreign investments, it helps to limit the earnings management. In addition, when accounting and tax are not as strongly aligned with market approach as expected, it also limits the earnings management behaviour of managers.

Environmental factors in frontier estimation – A Monte Carlo analysis

We compare three recently developed frontier estimators, namely the conditional DEA (Daraio and Simar, 2005; 2007b), the latent class SFA (Greene, 2005; Orea and Kumbhakar, 2004), and the StoNEZD approach (Johnson and Kuosmanen, 2011) by means of Monte Carlo simulation. We focus on their ability to identify production frontiers and efficiency rankings in the presence of environmental factors. Our simulations match features of real life datasets and cover a wide range of scenarios with variations in sample size, distribution of noise and inefficiency, as well as in distributions, intensity, and number of environmental variables. Our results provide insight in the finite sample properties of the estimators, while also identifying estimator-specific characteristics. Overall, the latent class approach is found to perform best, although in many cases StoNEZD shows a similar performance. Performance of cDEA is most often inferior.

Total Gaseous Mercury and Mercury Emission from Natural Surface at One Typical Agricultural Region in Three Gorges Reservoir

In situ measurement of total gaseous mercury (TGM) and mercury exchange fluxes between soil with different utilization patterns and atmosphere was conducted at one typical agricultural region in Three Gorges Reservoir. The TGM concentration ranged from 2.67 to 75.5 ng·m-3 with the average of (6.26±8.11) ng·m-3, higher than the global background value. An obvious seasonal variation of TGM was observed, and the TGM values in spring and winter were significantly higher than those in summer and autumn. It was found that the mercury fluxes varied from different landscapes with the emission fluxes at three land use types following the trend:rainfed cropland >paddy field >forest land. Seasonal variations of mercury emission were obvious with highest fluxes in summer and lowest in winter, while the highest daily mercury emission fluxes appeared at midday. Mercury emission fluxes in our study region were mainly controlled by air and soil temperature, humidity, light and ultraviolet, and the air temperature and ultraviolet were regarded as the main factors. The influence of Hg level in soil on Hg emission was not obvious in the presence of environmental factors and agricultural activity.

Indirect Reciprocity, Resource Sharing, and Environmental Risk: Evidence from Field Experiments in Siberia.

Integrating information from existing research, qualitative ethnographic interviews, and participant observation, we designed a field experiment that introduces idiosyncratic environmental risk and a voluntary sharing decision into a standard public goods game. Conducted with subsistence resource users in rural villages on the Kamchatka Peninsula in Northeast Siberia, we find evidence consistent with a model of indirect reciprocity and local social norms of helping the needy. When participants are allowed to develop reputations in the experiments, as is the case in most small-scale societies, we find that sharing is increasingly directed toward individuals experiencing hardship, good reputations increase aid, and the pooling of resources through voluntary sharing becomes more effective. We also find high levels of voluntary sharing without a strong commitment device; however, this form of cooperation does not increase contributions to the public good. Our results are consistent with previous experiments and theoretical models, suggesting strategic risks tied to rewards, punishments, and reputations are important. However, unlike studies that focus solely on strategic risks, we find the effects of rewards, punishments, and reputations are altered by the presence of environmental factors. Unexpected changes in resource abundance increase interdependence and may alter the costs and benefits of cooperation, relative to defection. We suggest environmental factors that increase interdependence are critically important to consider when developing and testing theories of cooperation

Operational Conditions in Regulatory Benchmarking Models: A Monte Carlo Analysis

Benchmarking methods are widely used in the regulation of firms in network industries working under heterogeneous exogenous environments. In this paper we compare three recently developed estimators, namely conditional DEA (Daraio and Simar, 2005, 2007b), latent class SFA (Orea and Kumbhakar, 2004; Greene, 2005), and the StoNEZD approach (Johnson and Kuosmanen, 2011) by means of Monte Carlo simulation focusing on their ability to identify production frontiers in the presence of environmental factors. Data generation replicates regulatory data from the energy sector in terms of sample size, sample dispersion and distribution, and correlations of variables. Although results show strengths of each of the three estimators in particular settings, latent class SFA perform best in nearly all simulations. Further, results indicate that the accuracy of the estimators is less sensitive against different distributions of environmental factors, their correlations with inputs, and their impact on the production process, but performance of all approaches deteriorates with increasing noise. For regulators this study provides orientation to adopt new benchmarking methods given industry characteristics.

Determinants of disability using count-based approaches to ICF-based definition of neurological disability.

The aim of this study was to explore the most relevant determinants of severe disability in a heterogeneous sample of patients with neurological conditions. We used data from previous studies on patients with myasthenia gravis (MG), migraine, Parkinson's disease (PD), multiple sclerosis, traumatic brain injury (TBI), stroke and epilepsy (349 patients, aged 18-74 years; mean 48.0, SD 11.7). We calculated count-based extension indexes to address severe disability, and hierarchical logistic regression to assess the association between severe disability, sociodemographic and health status information. Results show that sociodemographic variables played a minor role, while health state information was a stronger determinant of severe disability. Compared to the reference value of TBI patients, those with MG, PD and epilepsy had higher odds to have severe difficulties undertaking daily activities despite the presence of environmental factors. Our results contrast with those of previous studies, mostly derived from general populations, showing the different impact of clinical and sociodemographic variables.

SAT0018 Neurodevelopmental Long Term Outcome in Children Born to Mothers with Systemic Lupus Erythematosus and Antiphospholipid Syndrome

BackgroundSystemic lupus erythematosus (SLE) is a complex autoimmune disease that primarily affects women in childbearing age. Antiphospholipid Syndrome (APS) is a systemic autoimmune disorder defined by the occurrence of thrombosis...

Semiparametric Analysis of Case–control Genetic Data in the Presence of Environmental Factors

In the past decade, many statistical methods have been proposed for the analysis of case–control genetic data with an emphasis on haplotype-based disease association studies. Most of the methodology has concentrated on the estimation of genetic (haplotype) main effects. Most methods accounted for environmental and gene–environment interaction effects by using prospective-type analyses that may lead to biased estimates when used with case–control data. Several recent publications addressed the issue of retrospective sampling in the analysis of case–control genetic data in the presence of environmental factors by developing efficient semiparametric statistical methods. This article describes the new Stata command haplologit, which implements efficient profile-likelihood semiparametric methods for fitting gene–environment models in the very important special cases of a rare disease, a single candidate gene in Hardy–Weinberg equilibrium, and independence of genetic and environmental factors.

Oily skin: specific features in Chinese women

Inconsistent data are available on the various types of skin, their prevalence and characterization, particularly regarding Asian skins. This observation prompted to conduct a large study in China to assess the prevalence of oily skin and identify the specific factors related to that type of skin. The multicentre trial involved 1787 Chinese women in Shenyang, Harbin, Beijing, Chengdu and Suzhou, between 18 and 65 years of age. Data on history of acne, the presence of environmental factors and a detailed self-evaluation of the skin were collected using a standardized questionnaire. A clinical evaluation of facial skin oiliness was carried-out by a dermatologist at each centre. Sebum secretion was measured on the forehead using Sebumeter SM810. Statistical analysis (multiple correspondence analysis) of typology was conducted based on self-evaluation data. According to self-evaluation data, oily skin prevalence in the overall Chinese population of the study was 25.6%. Self-evaluation results were quite consistent with sebum measurements and with clinical assessment by dermatologist. Parameters associated with oily skin were (i) shiny skin and a past history of acne, (ii) irregular menstruation, and (iii) highly reactive or sensitive skin. Moreover, a clear and significant link was noted between oily skin and the ingestion of spicy or sweet food. Lastly, sebum levels were found to be twice as high in Beijing as in the other cities and were correlated to higher oily skin prevalence. The study demonstrated the capacity of women for proper self-evaluation of their skin type. It also suggests a potential link between nutritional factors such as spicy and/or sweet diets and oily skin as well as between sensitive and oily skin in this population.

The synergistic effects of the IL‐9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test

Asthma occurs in genetically susceptible individuals in the presence of environmental factors. The interleukin-9 (IL-9) gene, one of the cytokine genes located on chromosome 5q31, plays an important role in the development of asthmatic syndrome by enhancing both T-cell and mast-cell function. This study investigated GT repeat polymorphism of the IL-9 gene and the gene-environment interactions, which may predispose individuals to asthma and atopy pathogenesis. In this study, we used the transmission/disequilibrium test (TDT) to investigate the relationship between asthma and the IL-9 gene by studying 123 parent-offspring trios and 91 siblings. For allele-specific TDT chi-squared test, allele 122 of the IL-9 gene showed significant association with asthmatics with specific IgE against house dust (HD) (P = 0.038). The additions of covariates to TDT to conduct the synergistic effects between the IL-9 gene and environmental factors into account were estimated by conditional logistic regression models. The odds ratio for transmission of allele 122 of the IL-9 gene was 1.23 (P = 0.28) for all asthmatic probands. There was slight increased interaction effect on asthma between transmission of allele 122 of IL-9 gene to offspring and who were exposed to the fur of pets (OR = 3.33, P = 0.047). We also detected elevated odds of transmission of allele 122 to atopic asthmatic probands (OR = 2.08, P = 0.03) and offspring with very high levels of serum IgE (> or = 800 IU mL(-1)). In conclusion, this study has found that the IL-9 gene was slightly associated with asthmatics who have positive specific IgE against Der p (or Der f) and house dust, when information on environmental factors was incorporated as effect modifiers.

Indoleamine 2,3-dioxygenase (IDO) activity is lower in atopic than in non-atopic individuals and is enhanced by environmental factors protecting from atopy

Tryptophan catabolism activated by the indoleamine 2,3-dioxygenase (EC 1.13.11.42) (IDO) enzyme in antigen presenting cells has a central role in induction of mechanisms suppressing T cell activation or clonal expansion. There is evidence suggesting that IDO activity is mainly upregulated by typical Th1-differentiating signals such as interferon-γ and bacterial lipopolysaccharide (LPS). Therefore, we hypothesized that IDO activity would be lower in a Th2-associated disease such as atopy and that it would be higher in the presence of environmental factors known to favor Th1 differentiation. Here we show that this was the case. Concentrations of tryptophan (trp) and kynurenine (kyn), the main metabolite, were determined by reverse phase liquid chromatography from serum samples of a cohort of 392 non-asthmatic individual of whom 149 were atopics (one or more positive skin test when tested with a panel of 22 allergens). Kyn/trp ratio, as an indicator of IDO activity, was significantly lower in atopic than in non-atopic individuals. The cohort was stratified according to two known atopy-protecting factors, presence of antibodies against Helicobacter pylori or anamnestic information about childhood on a farm environment. As expected, IDO activity was significantly higher in their presence than absence.

Lack of Association between CD28/CTLA-4 Gene Polymorphisms and Atopic Asthma in the Japanese Population

Atopic asthma occurs in genetically susceptible individuals in the presence of environmental factors. Recently, the costimulation signal from CD80-CD86 to CD28/CTLA-4 has been suggested to play an important role in the development of atopic asthma. In the present study, we analyzed three polymorphic regions within the CTLA-4 gene, an A/G substitution in exon 1 position 49, a C/T base exchange in the promoter position –318 and an (AT)n repeat polymorphism in the 3′-untranslated region of exon 4, and a CD28 gene polymorphism with a T/C substitution in intron 3 position +17 in 120 patients with atopic asthma and 200 normal controls. The polymorphism frequencies of CTLA-4/CD28 genes in patients did not differ from those in normal controls. Thus, the present study was unable to reveal any association between CTLA-4/CD28 gene polymorphisms and atopic asthma in the Japanese population.

HLAs and genes in japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1 ∗0602

The distribution of HLA-A, B, C, DR and DRB1, DQB1, DPB1 alleles was studied in 60 Japanese patients with clinically definite multiple sclerosis (MS) using serologic and genomic analysis. We found significant associations with HLA-Cw3 ( p = 0.002, p c = 0.012RR = 3.2), DR2 ( p = 0.007, RR = 2.6), and DQB1 ∗0602 ( p = 0.04, RR = 4.0) in Japanese patients for the first time. The combined presence of Cw3 and DR2 gave a higher risk than each antigen alone. The reported increase in the frequency of DPw4 in Japanese MS patients [12] could not be confirmed by our genomic study. The frequencies of all of the residues in each variable region of the amino acid sequences of DQβ and DPβ chains were not different between the MS patients and the controls. These results suggest that MS susceptibility may result from polygenic influences and from the presence of environmental factors.

The Allocation of Consumer Incentives to Meet Simultaneous Sales Quotas: An Application to U.S. Army Recruiting

Consumer incentives often have a dual role: to expand the market and to redistribute the market so as to meet sales targets for a range of products. The proper allocation of incentives must recognize and deal with the competitive and “cannibalizing” effects operating among product classes. The presence of environmental factors, scale economies, and cost per unit for each of the candidate incentive types also must be accounted for. This paper develops and illustrates an analytical approach designed to improve the allocation of consumer incentives where sales targets are exogenously set. The model generates a system of simultaneous behavioral equations, a portion of which is included to reflect attempted cost minimizing behavior. The model is applied to FY81-FY86 data from the U.S. Army Recruiting Command, which allocated over $1 billion for special incentives to selected recruits. The incentives consist of enlistment bonuses and educational benefits offered to quality recruits who select critical occupational specialties. The sales targets are enlistment quotas for each of the occupational specialties that must be simultaneously satisfied. The Army's goal is to meet these quotas, in a postulated recruiting environment, at minimum total incentive expenditure. Results suggest that the Army could improve the cost-effectiveness of its recruiting effort through a reallocation of the incentives it offers to recruits. Misallocation during the FY81-FY86 period is estimated to have cost the Army approximately 3.5% of its total incentives expended in infantry recruiting recruiting.