WorldWideScience

Sample records for susceptible population clues

  1. Nanotoxicity overview: nano-threat to susceptible populations.

    Science.gov (United States)

    Li, Yang; Zhang, Yi; Yan, Bing

    2014-02-28

    Due to the increasing applications of nanomaterials and nanotechnology, potential danger of nanoparticle exposure has become a critical issue. However, recent nanotoxicity studies have mainly focused on the health risks to healthy adult population. The nanotoxicity effects on susceptible populations (such as pregnant, neonate, diseased, and aged populations) have been overlooked. Due to the alterations in physiological structures and functions in susceptible populations, they often suffer more damage from the same exposure. Thus, it is urgent to understand the effects of nanoparticle exposure on these populations. In order to fill this gap, the potential effects of nanoparticles to pregnant females, neonate, diseased, and aged population, as well as the possible underlying mechanisms are reviewed in this article. Investigations show that responses from susceptible population to nanoparticle exposure are often more severe. Reduced protection mechanism, compromised immunity, and impaired self-repair ability in these susceptible populations may contribute to the aggravated toxicity effects. This review will help minimize adverse effects of nanoparticles to susceptible population in future nanotechnology applications.

  2. Nanotoxicity Overview: Nano-Threat to Susceptible Populations

    Directory of Open Access Journals (Sweden)

    Yang Li

    2014-02-01

    Full Text Available Due to the increasing applications of nanomaterials and nanotechnology, potential danger of nanoparticle exposure has become a critical issue. However, recent nanotoxicity studies have mainly focused on the health risks to healthy adult population. The nanotoxicity effects on susceptible populations (such as pregnant, neonate, diseased, and aged populations have been overlooked. Due to the alterations in physiological structures and functions in susceptible populations, they often suffer more damage from the same exposure. Thus, it is urgent to understand the effects of nanoparticle exposure on these populations. In order to fill this gap, the potential effects of nanoparticles to pregnant females, neonate, diseased, and aged population, as well as the possible underlying mechanisms are reviewed in this article. Investigations show that responses from susceptible population to nanoparticle exposure are often more severe. Reduced protection mechanism, compromised immunity, and impaired self-repair ability in these susceptible populations may contribute to the aggravated toxicity effects. This review will help minimize adverse effects of nanoparticles to susceptible population in future nanotechnology applications.

  3. Susceptibilities of two populations of Aphis gossiper Glover to ...

    African Journals Online (AJOL)

    user

    2011-01-24

    Jan 24, 2011 ... Two populations of Aphis gossypii were collected from cotton and melon crops treated with insecticides to control this aphid species. The susceptibility of both aphid populations to pymetrozine,. Pirimicarb, Oxydemeton-methyl and Imidacloprid was evaluated using leaf deep bioassays in. Laboratory which ...

  4. Susceptibilities of two populations of Aphis gossiper Glover to ...

    African Journals Online (AJOL)

    Two populations of Aphis gossypii were collected from cotton and melon crops treated with insecticides to control this aphid species. The susceptibility of both aphid populations to pymetrozine, Pirimicarb, Oxydemeton-methyl and Imidacloprid was evaluated using leaf deep bioassays in Laboratory which were commonly ...

  5. Controlled human exposures to ambient pollutant particles in susceptible populations

    Directory of Open Access Journals (Sweden)

    Ghio Andrew J

    2009-07-01

    Full Text Available Abstract Epidemiologic studies have established an association between exposures to air pollution particles and human mortality and morbidity at concentrations of particles currently found in major metropolitan areas. The adverse effects of pollution particles are most prominent in susceptible subjects, including the elderly and patients with cardiopulmonary diseases. Controlled human exposure studies have been used to confirm the causal relationship between pollution particle exposure and adverse health effects. Earlier studies enrolled mostly young healthy subjects and have largely confirmed the capability of particles to cause adverse health effects shown in epidemiological studies. In the last few years, more studies involving susceptible populations have been published. These recent studies in susceptible populations, however, have shown that the adverse responses to particles appear diminished in these susceptible subjects compared to those in healthy subjects. The present paper reviewed and compared control human exposure studies to particles and sought to explain the "unexpected" response to particle exposure in these susceptible populations and make recommendations for future studies. We found that the causes for the discrepant results are likely multifactorial. Factors such as medications, the disease itself, genetic susceptibility, subject selection bias that is intrinsic to many controlled exposure studies and nonspecificity of study endpoints may explain part of the results. Future controlled exposure studies should select endpoints that are more closely related to the pathogenesis of the disease and reflect the severity of particle-induced health effects in the specific populations under investigation. Future studies should also attempt to control for medications and genetic susceptibility. Using a different study design, such as exposing subjects to filtered air and ambient levels of particles, and assessing the improvement in

  6. Gradients of Stellar Population Properties and Evolution Clues in a Nearby Galaxy M101

    Science.gov (United States)

    Lin, Lin; Zou, Hu; Kong, Xu; Lin, Xuanbin; Mao, Yewei; Cheng, Fuzhen; Jiang, Zhaoji; Zhou, Xu

    2013-06-01

    Multiband photometric images from ultraviolet and optical to infrared are collected to derive spatially resolved properties of the nearby Scd-type galaxy M101. With evolutionary stellar population synthesis models, two-dimensional distributions and radial profiles of age, metallicity, dust attenuation, and star formation timescale in the form of the Sandage star formation history are obtained. When fitting with the models, we use the IRX-A FUV relation, found to depend on a second parameter of birth rate b (ratio of present- and past-averaged star formation rates), to constrain the dust attenuation. There are obvious parameter gradients in the disk of M101, which supports the theory of an "inside-out" disk growth scenario. Two distinct disk regions with different gradients of age and color are discovered, similar to another late-type galaxy, NGC 628. The metallicity gradient of the stellar content is flatter than that of H II regions. The stellar disk is optically thicker inside than outside and the global dust attenuation of this galaxy is lower compared with galaxies of similar and earlier morphological type. We note that a variational star formation timescale describes the real star formation history of a galaxy. The timescale increases steadily from the center to the outskirt. We also confirm that the bulge in this galaxy is a disk-like pseudobulge, whose evolution is likely to be induced by some secular processes of the small bar which is relatively young, metal-rich, and contains much dust.

  7. Seasonal fluctuation in susceptibility to insecticides within natural populations of Drosophila melanogaster. II. Features of genetic variation in susceptibility to organophosphate insecticides within natural populations of D. melanogaster.

    Science.gov (United States)

    Miyo, Takahiro; Oguma, Yuzuru; Charlesworth, Brian

    2006-08-01

    To elucidate genetic variation in susceptibility to organophosphate insecticides within natural populations of Drosophila melanogaster, we conducted an analysis of variance for mortality data sets of isofemale lines (10-286 lines) used in the previous studies. Susceptibility of isofemale lines to the three organophosphate insecticides was continuously distributed within each natural population, ranging from susceptible to resistant. Analysis of variance showed highly significant variation among isofemale lines in susceptibility to each insecticide for each natural population. Significant genetic variances in susceptibility to the three chemicals were estimated for the Katsunuma population; 0.0529-0.2722 for malathion, 0.0492-0.1603 for prothiophos, and 0.0469-0.1696 for fenitrothion. Contrary to the consistent seasonal tendency towards an increase in mean susceptibility in the fall, reported in the previous study, genetic variances in susceptibility to the three organophosphates did not change significantly in 1997 but tended to increase by 2- to 5-times in 1998. We tested whether both the observed situations, maintenance and increase in genetic variance in organophosphate resistance, can be generated under circumstances in which the levels of resistance to the three organophosphates tended to decrease, by conducting a simulation analysis, based on the hypothesis that resistant genotypes have lower fitnesses than susceptible ones under the density-independent condition. The simulation analysis generally explained the pattern in the mean susceptibility and genetic variances in susceptibility to the three organophosphates, observed in the Katsunuma population of D. melanogaster. It was suggested that the differences in the frequencies of resistance genes in the summer population could affect the patterns in genetic variance in organophosphate resistance in the fall population.

  8. Asthma susceptible genes in Chinese population: A meta-analysis

    Directory of Open Access Journals (Sweden)

    He Chao

    2010-09-01

    Full Text Available Abstract Background Published data regarding the associations between genetic variants and asthma risk in Chinese population were inconclusive. The aim of this study was to investigate asthma susceptible genes in Chinese population. Methods The authors conducted 18 meta-analyzes for 18 polymorphisms in 13 genes from eighty-two publications. Results Seven polymorphisms were found being associated with risk of asthma, namely: A Disintegrin and Metalloprotease 33 (ADAM33 T1-C/T (odds ratio [OR] = 6.07, 95% confidence interval [CI]: 2.69-13.73, Angiotensin-Converting Enzyme (ACE D/I (OR = 3.85, 95%CI: 2.49-5.94, High-affinity IgE receptor β chain (FcεRIβ -6843G/A (OR = 1.49, 95%CI: 1.01-2.22, Interleukin 13(IL-13 -1923C/T (OR = 2.99, 95%CI: 2.12-4.24, IL-13 -2044A/G (OR = 1.49, 95%CI: 1.07-2.08, Regulated upon Activation, Normal T cell Expressed and Secreted (RANTES -28C/G (OR = 1.64, 95%CI: 1.09-2.46, Tumor Necrosis Factor-α (TNF-α -308G/A(OR = 1.42, 95%CI: 1.09, 1.85. After subgroup analysis by age, the ACE D/I, β2-Adrenergic Receptor (β2-AR -79G/C, TNF-α -308G/A, Interleukin 4 receptor(IL-4R -1902G/A and IL-13 -1923C/T polymorphisms were found significantly associated with asthma risk in Chinese children. In addition, the ACE D/I, FcεRIβ -6843G/A, TNF-α -308G/A, IL-13 -1923C/T and IL-13 -2044A/G polymorphisms were associated with asthma risk in Chinese adults. Conclusion ADAM33, FcεRIβ, RANTES, TNF-α, ACE, β2-AR, IL-4R and IL-13 genes could be proposed as asthma susceptible genes in Chinese population. Given the limited number of studies, more data are required to validate these associations.

  9. HLA class II diversity in seven Amerindian populations. Clues about the origins of the Aché.

    Science.gov (United States)

    Tsuneto, L T; Probst, C M; Hutz, M H; Salzano, F M; Rodriguez-Delfin, L A; Zago, M A; Hill, K; Hurtado, A M; Ribeiro-dos-Santos, A K C; Petzl-Erler, M L

    2003-12-01

    The study of the HLA variability of Native American populations revealed several alleles specific to one or more of the Latin American indigenous populations. The analysis of Amerindian groups distributed all over the continent might inform about the area of origin and the dispersal of these alleles and shed light on the evolution of this remarkable polymorphism. Moreover, HLA alleles and haplotypes are excellent markers to understand the genetic relationships between populations. For these reasons, we characterized the HLA class II polymorphism in seven South American Amerindian populations and compared the results with those previously reported for other Amerindian groups. The Guarani-Kaiowá (n = 160) and Guarani-Nandeva (n = 87) were from the Brazilian state of Mato Grosso do Sul, the Guarani-M'byá (n = 93) and Kaingang (n = 235) from Paraná state, the Aché (n = 89) from eastern Paraguay, the Quechua (n = 44) from Andean Peru. From Amazonia, a heterogeneous group was analyzed (n = 45). The most frequent alleles and haplotypes are common also in other Amerindian populations. Each HLA-DRB1 allele was typically found in combination with just one DQA1-DQB1 haplotype, most likely as a result of some form of random genetic drift and reduced gene flow from non-Amerindians. The frequency distribution differed significantly among all populations, although differences were less pronounced between the Guarani subgroups. Marker alleles allowed an estimate of European and sub-Saharan African gene flow into these populations: Quechua 23%, Guarani-Nandeva 14%, Kaingang 7%, Guarani-M'byá 4%, Guarani-Kaiowá, Amazonia, and Aché 0%. Interestingly, the DRB1*1413 allele, previously found only among the Guarani-M'byá (frequency 15%), appeared in the Aché (8%). The relationship of the Aché to other Amerindian populations is unclear, and this finding reveals a link with the Guarani. On the basis of genetic distance and the HLA allele/haplotype set, we propose that the Ach

  10. From the axons of the SNc dopamine neurons to their dendritic processes: further clues to susceptibility in Parkinson’s disease (PD?

    Directory of Open Access Journals (Sweden)

    Eleftheria Kyriaki Pissadaki

    2014-04-01

    Full Text Available Dopamine neurons of the substantia nigra pars compacta (SNc are uniquely sensitive to degeneration in Parkinson’s disease (PD and its models. Although a variety of molecular characteristics have been proposed to underlie this sensitivity, one possible contributory factor is their massive, unmyelinated, axonal arbor that is orders of magnitude larger than other neuronal types. In our previously published work, we examined the energetic impact imposed on SNc dopamine neurons by their extensive, unmyelinated axonal arbor and attempted to calculate the energy cost of action potential (AP propagation throughout the axonal arbors. Among our main findings were that a the energy demand associated with AP conduction is related in a supra-linear manner to the axonal size and complexity and, b that synaptic stimulation is necessary to ensure reliable propagation throughout the axonal arbors of neurons with higher levels of branching. Indeed, predictions of our biophysical model of SNc dopamine neurons suggest that tonic activity for the reliable propagation of APs throughout the axonal arbour of neurons with small-to-moderate size arbours, whereas synaptic stimulation is required for for reliable propagation in neurons with larger and more complex arbors (Pissadaki and Bolam 2013. SNc dopamine neurons may thus be classified into functionally distinct groups according to the size of their axonal arborisation. Furthermore, SNc dopamine neurons are divided into ventral tier neurons, which are more susceptible in PD and extend their dendrites in both SN pars reticulata (SNr and SNc, and dorsal tier neurons that restrict their dendrites within SNc. As SNr dendrites receive proportionally greater inhibitory input than SNc dendrites (Henny et al 2012, we examined the relationship between the dendritic compartmentalisation, synaptic input, burst generation and the extent of axonal arborisation. Because spatiotemporal interplay of synaptic stimulation has been

  11. Prospects for population expansion of the exotic aoudad (Ammotragus lervia; Bovidae) in the Iberian Peninsula: clues from habitat suitability modelling

    DEFF Research Database (Denmark)

    Cassinello, Jorge; Acevedo, Pelayo; Hortal, Joaquín

    2006-01-01

    from the original release location, in Sierra Espuña mountains, and validated using data from another free-ranging population, originated independently in the Alicante province. The habitat suitability model for the purely environmental niche predicts a potential distribution along a SW-NE axis......We studied the geographical distribution and habitat suitability of an introduced ungulate, the aoudad (Ammotragus lervia), that is currently expanding its range in south-eastern Iberian Peninsula. We assessed the niche of the species using Ecological Niche Factor Analysis (ENFA) on (1......) environmental variables (climate and habitat type), and (2) potential aoudad landscape avoidance and human disturbance variables. We compared both niche descriptions to study the impact of human interference on niche selection of the species. ENFA models were calibrated using data on the population expanded...

  12. High spoligotype diversity within a Mycobacterium bovis population: Clues to understanding the demography of the pathogen in Europe

    OpenAIRE

    Rodriguez, Sabrina; Romero, Beatriz; Bezos, Javier; de Juan, Lucia; Alvarez, Julio; Castellanos, Elena; Moya, Nuria; Lozano, Francisco; Gonzalez, Sergio; Luis Saez-Llorente, Jose; Mateos, Ana; Dominguez, Lucas; Aranaz, Alicia

    2010-01-01

    Abstract Mycobacterium bovis is the main causative agent of bovine tuberculosis. This zoonotic disease produces important economic losses and must be considered a threat to endangered animal species and public health. This study was performed (1) to assess the degree of diversity of the Spanish M. bovis isolates and its effect on the epidemiology of the infection, and (2) to understand the connection of M. bovis populations within a European context. In this report we resume the DV...

  13. Lactose intolerance and risk of lung, breast and ovarian cancers: aetiological clues from a population-based study in Sweden.

    Science.gov (United States)

    Ji, J; Sundquist, J; Sundquist, K

    2015-01-06

    Individuals with lactose intolerance are recommended to avoid milk or dairy products, which may affect the development of cancer. We identified individuals with lactose intolerance from several Swedish Registers linked to the Swedish Cancer Registry to calculate standardised incidence ratios (SIRs) for cancers in the breast, lung, and ovary. A total of 22,788 individuals with lactose intolerance were identified, and their risks of lung (SIR=0.55), breast (SIR=0.79), and ovarian (SIR=0.61) cancers were significantly decreased. Cancer incidences in the siblings and parents of individuals with lactose intolerance were similar to those in the general population. In this large cohort study, people with lactose intolerance, characterised by low consumption of milk and other dairy products, had decreased risks of lung, breast, and ovarian cancers, but the decreased risks were not found in their family members, suggesting that the protective effects against these cancers may be related to their specific dietary pattern.

  14. Vaccine effects on heterogeneity in susceptibility and implications for population health management

    Science.gov (United States)

    Langwig, Kate E.; Wargo, Andrew R.; Jones, Darbi R.; Viss, Jessie R.; Rutan, Barbara J.; Egan, Nicholas A.; Sá-Guimarães, Pedro; Min Sun Kim,; Kurath, Gael; Gomes, M. Gabriela M.; Lipsitch, Marc; Bansal, Shweta; Pettigrew, Melinda M.

    2017-01-01

    Heterogeneity in host susceptibility is a key determinant of infectious disease dynamics but is rarely accounted for in assessment of disease control measures. Understanding how susceptibility is distributed in populations, and how control measures change this distribution, is integral to predicting the course of epidemics with and without interventions. Using multiple experimental and modeling approaches, we show that rainbow trout have relatively homogeneous susceptibility to infection with infectious hematopoietic necrosis virus and that vaccination increases heterogeneity in susceptibility in a nearly all-or-nothing fashion. In a simple transmission model with an R0 of 2, the highly heterogeneous vaccine protection would cause a 35 percentage-point reduction in outbreak size over an intervention inducing homogenous protection at the same mean level. More broadly, these findings provide validation of methodology that can help to reduce biases in predictions of vaccine impact in natural settings and provide insight into how vaccination shapes population susceptibility.

  15. ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations.

    Directory of Open Access Journals (Sweden)

    Wei-Chiao Chang

    Full Text Available Atopic dermatitis is a chronic inflammatory skin disease. Multiple genetic and environmental factors are thought to be responsible for susceptibility to AD. In this study, we collected 2,478 DNA samples including 209 AD patients and 729 control subjects from Taiwanese population and 513 AD patients and 1027 control subject from Japanese population for sequencing and genotyping ORAI1. A total of 14 genetic variants including 3 novel single-nucleotide polymorphisms (SNPs in the ORAI1 gene were identified. Our results indicated that a non-synonymous SNP (rs3741596, Ser218Gly associated with the susceptibility of AD in the Japanese population but not in the Taiwanese population. However, there is another SNP of ORAI1 (rs3741595 associated with the risk of AD in the Taiwanese population but not in the Japanese population. Taken together, our results indicated that genetic polymorphisms of ORAI1 are very likely to be involved in the susceptibility of AD.

  16. [Susceptibility of natural populations of dengue vector to insecticides in Colombia].

    Science.gov (United States)

    Santacoloma, Liliana; Chaves, Bernardo; Brochero, Helena Luisa

    2012-09-01

    Physiological resistance of natural population of Aedes aegypti to insecticides contribute to the decreased efficacy of chemical control as a main control strategy during dengue outbreaks. The susceptibility status of Ae. aegypti was assessed for the carbamate propoxur, the adulticide malathion and the larvicide temephos on 13 natural populations of Ae. aegypti immature forms were taken from 8 Colombian localities. These included the following: Bucaramanga (1), Sabana de Torres (2), Girardot (2), La Mesa (2), Villavicencio (2), Puerto López (2), San José del Guaviare (1) and Florencia (1). Susceptibility tests mainly consisted of the standardized bioassay outlined by WHO (1981) and CDC bottles (1998). Colorimetric tests were undertaken to determine enzyme levels possibly responsible for the reduction of susceptibility to organophosphate and carbamate insecticides. All specimens demonstrated susceptibility to malathion and propoxur insecticides. Four of the 13 populations revealed susceptibility to the temephos larvicide. Seven of 11 populations showed a limited increase in values for nonspecific esterase enzymes. The Bucaramanga population was the only one which showed an increase in the cytochrome P450 monooxygenases enzymes. Neither population was found with modified acetilcolinesterase. The widespread susceptibility to organophosphates used as adulticides indicated that malathion, the most used insecticide in Colombia, remains effective in interrupting the transmission of dengue. Physiological resistance to insecticides occurring in communities of a single township proved to be a localized phenomenon.

  17. Radiation-sensitive genetically susceptible pediatric sub-populations

    Energy Technology Data Exchange (ETDEWEB)

    Kleinerman, Ruth A. [National Cancer Institute, NIH, DHHS, Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Rockville, MD (United States)

    2009-02-15

    Major advances in pediatric cancer treatment have resulted in substantial improvements in survival. However, concern has emerged about the late effects of cancer therapy, especially radiation-related second cancers. Studies of childhood cancer patients with inherited cancer syndromes can provide insights into the interaction between radiation and genetic susceptibility to multiple cancers. Children with retinoblastoma (Rb), neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome (LFS), and nevoid basal cell carcinoma syndrome (NBCCS) are at substantial risk of developing radiation-related second and third cancers. A radiation dose-response for bone and soft-tissue sarcomas has been observed in hereditary Rb patients, with many of these cancers occurring in the radiation field. Studies of NF1 patients irradiated for optic pathway gliomas have reported increased risks of developing another cancer associated with radiotherapy. High relative risks for second and third cancers were observed for a cohort of 200 LFS family members, especially children, possibly related to radiotherapy. Children with NBCCS are very sensitive to radiation and develop multiple basal cell cancers in irradiated areas. Clinicians following these patients should be aware of their increased genetic susceptibility to multiple primary malignancies enhanced by sensitivity to ionizing radiation. (orig.)

  18. Within-population covariation between sexual reproduction and susceptibility to local parasites.

    Science.gov (United States)

    Gibson, Amanda K; Xu, Julie Y; Lively, Curtis M

    2016-09-01

    Evolutionary biology has yet to reconcile the ubiquity of sex with its costs relative to asexual reproduction. Here, we test the hypothesis that coevolving parasites maintain sex in their hosts. Specifically, we examined the distributions of sexual reproduction and susceptibility to local parasites within a single population of freshwater snails (Potamopyrgus antipodarum). Susceptibility to local trematode parasites (Microphallus sp.) is a relative measure of the strength of coevolutionary selection in this system. Thus, if coevolving parasites maintain sex, sexual snails should be common where susceptibility is high. We tested this prediction in a mixed population of sexual and asexual snails by measuring the susceptibility of snails from multiple sites in a lake. Consistent with the prediction, the frequency of sexual snails was tightly and positively correlated with susceptibility to local parasites. Strikingly, in just two years, asexual females increased in frequency at sites where susceptibility declined. We also found that the frequency of sexual females covaries more strongly with susceptibility than with the prevalence of Microphallus infection in the field. In linking susceptibility to the frequency of sexual hosts, our results directly implicate spatial variation in coevolutionary selection in driving the geographic mosaic of sex. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  19. Cardiovascular Disease Susceptibility and Resistance in Circumpolar Inuit Populations

    DEFF Research Database (Denmark)

    Tvermosegaard, Maria; Dahl-Petersen, Inger K; Nielsen, Nina Odgaard

    2015-01-01

    Cardiovascular disease (CVD) is a major public health issue in indigenous populations in the Arctic. These diseases have emerged concomitantly with profound social changes over the past 60 years. The aim of this study was to summarize the literature on CVD risk among Arctic Inuit. Literature...... on prevalence, incidence, and time trends for CVD and its risk factors in Arctic Inuit populations was reviewed. Most evidence supports a similar incidence of coronary heart disease and a higher incidence of cerebrovascular disease among Arctic Inuit than seen in western populations. Factors that may increase...... intake (at least documented in Greenland), and contaminant levels are declining. Although there have been marked socioeconomic and dietary changes, it remains unsolved and to some extent controversial how this may have influenced cardiovascular risk among Arctic Inuit. The increase in life expectancy...

  20. Insecticide susceptibility of Aedes aegypti populations from Senegal and Cape Verde Archipelago

    Directory of Open Access Journals (Sweden)

    Dia Ibrahima

    2012-10-01

    Full Text Available Abstract Background Two concomitant dengue 3 (DEN-3 epidemics occurred in Cape Verde Archipelago and Senegal between September and October 2009. Aedes aegypti was identified as the vector of these epidemics as several DEN-3 virus strains were isolated from this species in both countries. The susceptibility to pyrethroids, organochlorine, organophosphates and carbamate was investigated in two field strains of Aedes aegypti from both countries using WHO diagnostic bioassay kits in order to monitor their the current status of insecticide susceptibility. Findings The two tested strains were highly resistant to DDT. The Cape Verde strain was found to be susceptible to all others tested insecticides except for propoxur 0.1%, which needs further investigation. The Dakar strain was susceptible to fenitrothion 1% and permethrin 0.75%, but displayed reduced susceptibility to deltamethrin, lambda-cyhalothrin and propoxur. Conclusions As base-line results, our observations stress a careful management of insecticide use for the control of Ae. aegypti. Indeed, they indicate that DDT is no longer efficient for the control of Ae. aegypti populations in Cape Verde and Dakar and further suggest a thorough follow-up of propoxur susceptibility status in both sites and that of deltamethrin and lambda-cyhalothrin in Ae. aegypti populations in Dakar. Thus, regular monitoring of susceptibility is greatly needed as well as the knowing if this observed resistance/susceptibility is focal or not and for observed resistance, the use of biochemical methods is needed with detailed comparison of resistance levels over a large geographic area. Keywords Aedes aegypti, Insecticides, Susceptibility, Cape Verde, Senegal

  1. Polymorphisms in the CISH gene are associated with susceptibility to tuberculosis in the Chinese Han population.

    Science.gov (United States)

    Ji, Lin-dan; Xu, Wei-nan; Chai, Peng-fei; Zheng, Wei; Qian, Hai-xia; Xu, Jin

    2014-12-01

    A recent multi-center case-control study identified several single nucleotide polymorphisms (SNPs) within the cytokine-inducible SRC homology 2 domain (CISH) gene that are associated with susceptibility to tuberculosis (TB) in both African and Asian populations. To acquire a more robust and well-powered estimate of the putative influence of these SNPs on TB susceptibility, we conducted a well-designed case-control study in the Chinese Han population. We genotyped 3 previously identified SNPs within CISH in 600 patients with pulmonary TB and 618 healthy controls, and we calculated the pooled P-values and ORs of several studies that have also been conducted in the Chinese populations. The results of the case-control study showed that the C allele of rs2239751 and the T allele of rs414171 are associated with TB susceptibility, and this association exists only in women and young adults. The pooled analysis indicated that both SNPs are significantly associated with TB in the global populations and Chinese populations. The current study confirms that variants of CISH are associated with susceptibility to TB, suggesting that negative regulators of cytokine signaling may have a role in immunity against TB infection. We hypothesize that CISH and estrogen may interact in the cytokine-dependent regulation of the immune system. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Status report on CLUE

    International Nuclear Information System (INIS)

    Alexandreas, D.; Bartoli, B.; Bedeschi, F.; Bertolucci, E.; Bigongiari, C.; Biral, R.; Busetto, G.; Centro, S.; Chiarelli, G.; Cocca, E.; Cresti, M.; Liello, F.; Mariotti, M.; Marsella, G.; Menzione, A.; O'Connor, D.J.; Nicoletto, M.; Paoletti, R.; Peruzzo, L.; Pesci, A.; Pugno, R.; Saggion, A.; Sartori, G.; Sbarra, C.; Scribano, A.; Smith, D.A.; Turini, N.; Zettti, F.

    1995-01-01

    The CLUE experiment uses a new cosmic ray detector array planned to operate for the next decade. It utilises a MWPC chambers sensitive to UV, to image Cherenkov radiation produced in cosmic ray showers. This approach is unique in that the instrument is insensitive to skylight backgrounds, has a threshold similar to that of visible Cherenkov experiments but a longer duty cycle. These features make possible a class of interesting cosmic ray physics experiments. The CLUE experiment has started operation with two of the ten telescopes that are foreseen for its beginning. These telescopes are at present at Roque de Los Muchachos in the Canary Islands, in the same site as the HEGRA experiment. A description of the telescopes is given and some data on the tests performed are presented. (orig.)

  3. Y Chromosome Regulation of Autism Susceptibility Genes

    Science.gov (United States)

    2009-06-01

    autistic children. Such distorted ratio could be as high as 8:1 in some populations [12, 13]. Sexual dimorphism in autism is a key and consistent... autism [18-24]. Recent studies in our laboratory suggest that genes on the Y chromosome could contribute to such sexual dimorphisms, thereby raising the...contribute to autism susceptibility, have provided a critical clue that the male-only chromosome is potentially a key player in the sexual dimorphism

  4. No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations

    NARCIS (Netherlands)

    Sawai, Hiromi; Nishida, Nao; Mbarek, Hamdi; Matsuda, Koichi; Mawatari, Yoriko; Yamaoka, Megumi; Hige, Shuhei; Kang, Jong-Hon; Abe, Koichi; Mochida, Satoshi; Watanabe, Masaaki; Kurosaki, Masayuki; Asahina, Yasuhiro; Izumi, Namiki; Honda, Masao; Kaneko, Shuichi; Tanaka, Eiji; Matsuura, Kentaro; Itoh, Yoshito; Mita, Eiji; Korenaga, Masaaki; Hino, Keisuke; Murawaki, Yoshikazu; Hiasa, Yoichi; Ide, Tatsuya; Ito, Kiyoaki; Sugiyama, Masaya; Ahn, Sang Hoon; Han, Kwang-Hyub; Park, Jun Yong; Yuen, Man-Fung; Nakamura, Yusuke; Tanaka, Yasuhito; Mizokami, Masashi; Tokunaga, Katsushi

    2012-01-01

    BACKGROUND: A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B virus) carriers with and without hepatocellular carcinoma (HCC) in five independent Chinese populations found that one SNP (rs17401966) in KIF1B was associated with susceptibility to HCC. In the present study, a

  5. Susceptibility to diazinon in populations of the horn fly, Haematobia irritans (Diptera: Muscidae), in Central Brazil.

    Science.gov (United States)

    Barros, Antonio Thadeu M; Gomes, Alberto; Ismael, Ana Paula K; Koller, Wilson W

    2002-09-01

    From October 2000 to April 2001, insecticide bioassays were conducted in 18 ranches from 10 counties in the states of Mato Grosso and Mato Grosso do Sul, in Central Brazil. Horn flies from wild populations were exposed to diazinon-impregnated filter papers immediately after collection on cattle, and mortality was recorded after 2 h. A high susceptibility to diazinon was observed in all tested populations. The LC50s ranged from 0.15 to 0.64 micro g/cm2, and resistance ratios were always lower than one (ranging 0.1-0.6). Pyrethroid products, most applied by backpack sprayers, have been used since the horn fly entered the region, about 10 years ago. The high susceptibility observed to diazinon indicates that this insecticide (as probably other organophosphate insecticides) represents an useful tool for horn fly control and resistance management, particularly in pyrethroid-resistant populations.

  6. Susceptibility to diazinon in populations of the horn fly, Haematobia irritans (Diptera: Muscidae, in Central Brazil

    Directory of Open Access Journals (Sweden)

    Barros Antonio Thadeu M

    2002-01-01

    Full Text Available From October 2000 to April 2001, insecticide bioassays were conducted in 18 ranches from 10 counties in the states of Mato Grosso and Mato Grosso do Sul, in Central Brazil. Horn flies from wild populations were exposed to diazinon-impregnated filter papers immediately after collection on cattle, and mortality was recorded after 2 h. A high susceptibility to diazinon was observed in all tested populations. The LC50s ranged from 0.15 to 0.64 µg/cm², and resistance ratios were always lower than one (ranging 0.1-0.6. Pyrethroid products, most applied by backpack sprayers, have been used since the horn fly entered the region, about 10 years ago. The high susceptibility observed to diazinon indicates that this insecticide (as probably other organophosphate insecticides represents an useful tool for horn fly control and resistance management, particularly in pyrethroid-resistant populations.

  7. Screening for potential susceptibility to rubella in an antenatal population: A multivariate analysis.

    Science.gov (United States)

    Snell, Luke Blagdon; Smith, Colette; Chaytor, Shelley; McRae, Kathryn; Patel, Mauli; Griffiths, Paul

    2017-09-01

    Rubella causes disease in the fetus. Immunity to rubella is therefore, routinely screened in pregnant women. In this retrospective observational study, we assessed the levels of potential susceptibility to rubella in the population of a north London antenatal clinic. Risk factors for potential susceptibility to rubella and changes in potential susceptibility to rubella over time were studied. Almost all women were screened for potential susceptibility to rubella (99.8%). The majority were predicted to be immune (96.8%). Women booking in later years within the study period showed higher levels of potential susceptibility to rubella. Booking during each subsequent year in the study gave women an odds ratio of 0.91 (CI:0.84, 0.98, P = 0.009) of being predicted to have immunity against rubella. Age was associated with predicted immunity to rubella, with a 5.1% (CI:3.3%, 6.9%, P rubella with an odds ratio of 1.41 (CI 1.21, 1.61, P = 0.001). Those from a non-white ethnicity were less likely to have antibodies predictive of immunity (OR: 0.730, CI: 0.581, 0.879 P rubella non-immunity was also a risk factor, giving an odds ratio of predicted immunity to rubella of 0.55 (CI:0.32, 0.77, P < 0.001). © 2017 Wiley Periodicals, Inc.

  8. Susceptibility status of Culex quinquefasciatus (Diptera: Culicidae) populations to the chemical insecticide temephos in Pernambuco, Brazil.

    Science.gov (United States)

    Amorim, Liliane Barbosa; Helvecio, Elisama; de Oliveira, Cláudia Maria Fontes; Ayres, Constância Flávia Junqueira

    2013-12-01

    Culex quinquefasciatus is the vector of many agents of human diseases, including Wuchereria bancrofti, the parasite that causes bancroftian filariasis, an endemic disease in Pernambuco State, Brazil. Although temephos is not currently used to control C. quinquefasciatus, the species might be under a selection process from incidental exposure to this compound. This study aimed to evaluate the susceptibility status of C. quinquefasciatus to temephos, using bioassays, and to investigate its putative resistance mechanisms through biochemical assays and screening of the G119S mutation in the acetylcholinesterase gene, which is associated with organophosphate resistance, carried out by PCR and sequencing. The results showed that only mosquitoes from Santa Cruz do Capibaribe (SC) had an alteration in their susceptibility status (RR = 7.2-fold), while the other populations were all susceptible to the insecticide. Biochemical assays showed increased activity for all esterases in SC, as well as evidence of acetylcholinesterase insensitivity. The G119S mutation was detected in this population with a frequency of 0.11, but it was not found in the remaining populations. These data show that mechanisms of temephos resistance have been selected in natural C. quinquefasciatus populations from Pernambuco, which could undermine future control actions. © 2013 Society of Chemical Industry.

  9. The incidence of melanoma is increasing in the susceptible young Australian population.

    Science.gov (United States)

    Czarnecki, Douglas

    2014-09-01

    The number of melanomas removed from Australians is increasing. Despite this, it has been reported that the incidence of melanoma is decreasing in the young Australian population. However, the denominator for these estimates includes individuals at low risk of melanoma, and the proportion of such individuals has changed over recent decades due to immigration. In this study, the incidence was calculated for the susceptible young population. Data from the Australian Bureau of Statistics were analysed to determine the number of people younger than 30 years at low risk of developing melanoma in 1982 and 2009. Low risk people were defined as those born in Asia, the Pacific Islands, The Middle East, or Sub-Saharan Africa, or had parents born in these regions. There was a significant increase in the number of young Australians at low risk for melanoma. If these people are not included when calculating the crude rate of melanoma, the rate increased from 5.9 per 100,000 in 1982 to 6.3 in 2009. If the estimated number of young Maoris and young Aborigines is excluded from the susceptible population, the crude rate increased from 6.0 per 100,000 in 1982 to 6.8 in 2009. This is the first calculation of the rate of melanoma for the susceptible young Australian population.

  10. Susceptibility to chlorpyrifos in pyrethroid-resistant populations of Aedes aegypti (Diptera: Culicidae) from Mexico.

    Science.gov (United States)

    Lopez, Beatriz; Ponce, Gustavo; Gonzalez, Jessica A; Gutierrez, Selene M; Villanueva, Olga K; Gonzalez, Gabriela; Bobadilla, Cristina; Rodriguez, Iram P; Black, William C; Flores, Adriana E

    2014-05-01

    Resistance to the organophosphate insecticide chlorpyrifos was evaluated in females from six strains of Aedes aegypti (L.) that expressed high levels of cross-resistance to eight pyrethroid insecticides. Relative to LC50 and LC90 at 24 h of a susceptible New Orleans (NO) strain, three strains were highly resistant to chlorpyrifos (Coatzacoalcos, resistance ratio [RRLC90 = 11.97; Pozarica, RRLC90 = 12.98; and Cosoleacaque, RRLC50 = 13.94 and RRLC90 = 17.57), one strain was moderately resistant (Veracruz, RRLC90 = 5.92), and two strains were susceptible (Tantoyuca and Martinez de la Torre, RRLC50 and RRLC90 < 5) in bottle bioassays according to Centers for Disease Control and Prevention. Furthermore, high levels of alpha- or beta-esterase activity in the sample populations were correlated with resistance, suggesting that esterase activity may be a mechanism causing the development of organophosphate resistance in these populations. Overall, the populations in this study were less resistant to chlorpyrifos than to pyrethroids. Rotation of insecticides used in control activities is recommended to delay or minimize the occurrence of high levels of resistance to chlorpyrifos among local populations of Ae. aegypti. The diagnostic dose and diagnostic time for chlorpyrifos resistance monitoring was determined to be 85 microg per bottle and 30 min, respectively, using the susceptible NO strain.

  11. Susceptibility characterization of residual Brazilian populations of Triatoma infestans Klug, 1834 (Hemiptera: Reduviidae to deltamethrin pyrethroid

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    Grasielle Caldas D`avila Pessoa

    2015-04-01

    Full Text Available INTRODUCTION: Despite years of efforts towards the elimination of Triatoma infestans in Brazil, residual foci still persist in some areas of the States of Bahia and Rio Grande do Sul. The persistence of these T. infestans populations in the country has two different origins of equal concern: operational failures or insecticide resistance. Thus, the objective of this study was to characterize the susceptibility profile of the residual Brazilian populations of T. infestans to deltamethrin. METHODS: The susceptibility reference lineage was derived from Cipein/Argentina. The populations studied were manually collected using a dislodging agent in peridomiciles in the States of Bahia (Novo Horizonte and of Rio Grande do Sul (Santa Rosa and Doutor Maurício Cardoso. Serial dilutions of deltamethrin were prepared and applied at the dorsal abdomen of first instar nymphs. The control group received only pure acetone. Mortality was evaluated after 72h. Qualitative tests assessed the mortality of a diagnostic dose of 1xLD99 (2.76ng a.i./nymph determined for the susceptibility reference lineage. RESULTS: The susceptibility profile characterization of the T. infestans populations revealed an RR50 ranging from 1.73 to 3.26. The mortality percentage in response to a diagnostic dose was 100%. The results obtained in the quantitative and qualitative assays corresponded for all populations. CONCLUSIONS: The results of this study indicate that the persistence of residual foci of T. infestans in Bahia and Rio Grande do Sul is not related to insecticide resistance but may be associated with operational failures. In Rio Grande do Sul, we must consider the possibility of continuous reinfestation by Argentinian individuals, which justifies active and efficient epidemiological surveillance.

  12. [Larval susceptibility of Aedes aegypti and Culex quinquefasciatus populations to chemical insecticides].

    Science.gov (United States)

    Campos, Jairo; Andrade, Carlos F S

    2003-08-01

    To evaluate the susceptibility to chemical insecticides of Culex quinquefasciatus and Aedes aegypt larvae from areas subjected to control treatments or not. Bioassays for diagnostic concentration and multiple concentration were performed for organophosphate and pyrethroid insecticides according to World Health Organization parameters. The susceptibility was assessed for mosquito larvae collected from an area not subjected to chemical control (Campinas, State of S o Paulo, SP) and from other areas (Campo Grande, Mato Grosso do Sul, MS, and Cuiabá, Mato Grosso, MT), in Brazil, subjected to such treatments. Tests for Culex quinquefasciatus larvae from Campinas, SP, allowed suspicion of resistance to cypermethrin and gave evidence of resistance to cyfluthrin. Larvae of this species collected in Campo Grande, MS, and Campinas, SP, presented resistance to temephos. For the colony from the latter locality, the following resistance rates were established: RR50=6.36 and RR95=4.94, in relation to a standard susceptible strain. Moreover, tests for Aedes aegypti showed similar susceptibility to temephos for a field population from Cuiabá, MT, and a laboratory population. The results indicate resistance of Culex quinquefasciatus to organophosphate and pyrethroid insecticides and make evident the need for evaluation and monitoring of the efficiency of insecticides to be used in mosquito control programs.

  13. Biannual monitoring of pyrethroid and neonicotinoid susceptibility in Danish pollen beetle (Meligethes aeneus F.) populations

    DEFF Research Database (Denmark)

    Kaiser, Caroline; Kristensen, Michael; Jensen, Karl-Martin Vagn

    2015-01-01

    The pollen beetle (Meligethes aeneus F.) is a serious pest in the northern countries in oilseed rape. To determine the present level of pyrethroid and neonicotinoid susceptibility of Danish pollen beetle populations, standardized methods recommended by IRAC (Insecticide Resistance Action Committee......, if the resistance level which was determined in 2014 was stable in selected regions. Therefore pollen beetle populations from 14 locations in Denmark and five locations in Germany have been tested. For all tests the standardised methods for pyrethroids, the Adult-vial-test No. 11 and the Adult-vials-test No. 21...

  14. Imidacloprid susceptibility survey and selection risk assessment in field populations of Nilaparvata lugens (Homoptera: Delphacidae).

    Science.gov (United States)

    Wang, Yan Hua; Gao, Cong Fen; Zhu, Yu Cheng; Chen, Jin; Li, Wen Hong; Zhuang, Yong Lin; Dai, De Jiang; Zhou, Wei Jun; Yong, Chong; Shen, Jin Liang

    2008-04-01

    Imidacloprid has been used for many years to control planthopper Nilaparvata lugens (Stål) (Homoptera: Delphacidae) in China. To provide resistance assessment for the national insecticide resistance management program, we collected a total of 42 samples of the planthoppers from 27 locations covering eight provinces to monitor their dose responses and susceptibility changes to imidacloprid over an 11-yr period (1996-2006). Results showed that most field populations maintained susceptibility from 1996 to 2003 except for a population from Guilin, Guangxi, in 1997, which showed a low level of resistance to imidacloprid. However, surveys conducted in 2005 indicated that 16 populations from six provinces quickly developed resistance with resistance ratios ranging from 79 to 811. The data collected in 2006 revealed that the resistance levels in 12 populations collected from seven different provinces decreased slightly (RR = 107-316), except the Tongzhou population (Jiangsu Province), which developed 625-fold resistance. Dominant and intensive use of imidacloprid in a wide range of rice, Oryza savita L., growing areas might be a driving force for the resistance development. Migration of the insect also significantly boosted the resistance levels due to extensive and intensive use of imidacloprid in emigrating areas and continuous postmigration sprays of the chemical. In addition, laboratory resistance selection using imidacloprid showed that resistance ratio increased to 14-fold after 27 generations, suggesting that quick resistance development might be associated with more frequent applications of the insecticide in recent years.

  15. Colonisation of a phage susceptible Campylobacter jejuni population in two phage positive broiler flocks.

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    Sophie Kittler

    Full Text Available The pathogens Campylobacter jejuni and Campylobacter coli are commensals in the poultry intestine and campylobacteriosis is one of the most frequent foodborne diseases in developed and developing countries. Phages were identified to be effective in reducing intestinal Campylobacter load and this was evaluated, in the first field trials which were recently carried out. The aim of this study was to further investigate Campylobacter population dynamics during phage application on a commercial broiler farm. This study determines the superiority in colonisation of a Campylobacter type found in a field trial that was susceptible to phages in in vitro tests. The colonisation factors, i.e. motility and gamma glutamyl transferase activity, were increased in this type. The clustering in phylogenetic comparisons of MALDI-TOF spectra did not match the ST, biochemical phenotype and phage susceptibility. Occurrence of Campylobacter jejuni strains and phage susceptibility types with different colonisation potential seem to play a very important role in the success of phage therapy in commercial broiler houses. Thus, mechanisms of both, phage susceptibility and Campylobacter colonisation should be further investigated and considered when composing phage cocktails.

  16. Susceptibility of different European populations of Tribolium confusum (coleoptera: Tenebrionidae) to five diatomaceous earth formulations.

    Science.gov (United States)

    Vayias, B J; Athanassiou, C G; Kavallieratos, N G; Buchelos, C Th

    2006-10-01

    Laboratory bioassays were conducted to evaluate the susceptibility of seven populations (strains) of the confused flour beetle, Tribolium confusum Jacquelin du Val (Coleoptera: Tenebrionidae), to five commercially available diatomaceous earth (DE) formulations: Insecto, Protect-It, Protector, PyriSec, and SilicoSec. These DEs were applied on wheat, Triticum durum Desf., at two dose rates, 500 and 1000 ppm. The six beetle strains were obtained from Denmark, United Kingdom, Greece, Germany, Italy, and Portugal, whereas a seventh strain came from the Greek strain after laboratory selection with SilicoSec-treated wheat for six generations. Adults of the above-mentioned strains were exposed for 7 d to wheat treated with each DE formulation, and mortality was assessed after exposure. For all DE-dose combinations, significant differences were noted in mortality levels among strains. Generally, the strains from Denmark, United Kingdom, and Germany were the most susceptible to the DEs used, whereas the strain from Portugal was the least susceptible. No significant differences were noted in susceptibility level between the initial Greek strain and the laboratory-selected Greek strain, with the exception of Protector, where the selected strain was significantly more tolerant than the initial strain for both dose rates tested.

  17. [Association between CISH polymorphisms and susceptibility to chronic hepatitis B in Chinese Han population].

    Science.gov (United States)

    Zhang, Xin; Sun, Xuehua; Zhou, Zhenhua; Li, Man; Gao, Yueqiu

    2014-04-01

    To investigate the association between rs414171 single nucleotide polymorphisms (SNP) of cytokine- inducible src homology 2 domain protein (CISH) and the susceptibility to chronic hepatitis B. A total of 233 Chinese Han patients with chronic hepatitis B and 148 age- and sex-matched healthy controls were enrolled in this case-control study. The SNP rs414171 was genotyped by Sequenom MassArray-IPLEX to analyze the relationship between rs414171 and chronic hepatitis B. The distribution of SNP rs414171 allele and genotype frequencies showed no significant difference between the patients and healthy controls (P>0.05). CISH rs414171 is not significantly associated with the susceptibility to chronic hepatitis B in Chinese Han population.

  18. Susceptibility to chemical insecticides of two Brazilian populations of the visceral leishmaniasis vector Lutzomyia longipalpis (Diptera: Psychodidae).

    Science.gov (United States)

    Alexander, B; Barros, V C; de Souza, S F; Barros, S S; Teodoro, L P; Soares, Z R; Gontijo, N F; Reithinger, R

    2009-10-01

    To investigate the insecticide susceptibility of two geographically separated Lutzomyia longipalpis populations (Lapinha and Montes Claros) with different histories of insecticide exposure (i.e. no exposure and repeated exposure, respectively). (i) Bioassay monitoring of sand fly survival over time when exposed to a range of insecticides; and (ii) analysis of the level of insecticide detoxification enzymes in individual sand flies caught at both study sites. Insecticides tested were the organophosphates malathion and fenitrothion and the pyrethroids lambda-cyhalothrin, permethrin and deltamethrin. Survival analyses showed that whilst there was no overall significant difference in susceptibility of both populations to organophosphates, Lapinha sand flies were significantly more susceptible to pyrethroids than those from Montes Claros. Multiple regression analyses also showed that insecticide susceptibility in both locations varied with sand fly sex. The relative susceptibilities of the two sand fly populations to tested insecticides were also compared. Thus, Montes Claros sand flies were most susceptible to malathion, followed by fenitrothion, deltamethrin and permethrin. Those from Lapinha were most susceptible to lambda-cyhalothrin, followed by malathion, permethrin, deltamethrin and fenitrothion. Biochemical analyses demonstrated that Montes Claros sand flies had significantly lower insecticide detoxification enzyme activity than Lapinha sand flies. Our results are the first record of significantly reduced susceptibility to the insecticides used in control of wild populations of Lu. longipalpis. They demonstrate the importance of evaluating chemicals against this species by conventional bioassay and microplate assays before and during spraying programmes.

  19. Genetic variants in MARCO are associated with the susceptibility to pulmonary tuberculosis in Chinese Han population.

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    Mai-Juan Ma

    Full Text Available BACKGROUND: Susceptibility to tuberculosis is not only determined by Mycobacterium tuberculosis infection, but also by the genetic component of the host. Macrophage receptor with a collagenous structure (MARCO is essential components required for toll like receptor-signaling in macrophage response to Mycobacterium tuberculosis, which may contribute to tuberculosis risk. PRINCIPAL FINDINGS: To specifically investigated whether single nucleotide polymorphisms (SNPs in MARCO gene are associated with pulmonary tuberculosis in Chinese Han population. By selecting tagging SNPs in MARCO gene, 17 tag SNPs were identified and genotyped in 923 pulmonary tuberculosis patients and 1033 healthy control subjects using a hospital based case-control association study. Single-point and haplotype analysis revealed an association in intron and exon region of MARCO gene. One SNP (rs17009726 was associated with susceptibility to pulmonary tuberculosis, where the carriers of the G allele had a 1.65 fold (95% CI = 1.32-2.05, p(corrected = 9.27E-5 increased risk of pulmonary tuberculosis. Haplotype analysis revealed that haplotype GC containing G allele of 17009726 and haplotype TGCC (rs17795618T/A, rs1371562G/T, rs6761637T/C, rs2011839C/T were also associated with susceptibility to pulmonary tuberculosis (p(corrected = 0.0001 and 0.029, respectively. CONCLUSIONS: Our study suggested that genetic variants in MARCO gene were associated with pulmonary tuberculosis susceptibility in Chinese Han population, and the findings emphasize the importance of MARCO mediated immune responses in the pathogenesis of tuberculosis.

  20. Culex pipiens and Culex torrentium populations from Central Europe are susceptible to West Nile virus infection

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    Mayke Leggewie

    2016-12-01

    Full Text Available West Nile virus (WNV, a Flavivirus with an avian primary host, is already widespread in Europe and might also pose an infection risk to Germany, should competent mosquito vectors be present. Therefore, we analysed the ability of WNV to infect German Culex mosquitoes with special emphasis on field collected specimens of Culex torrentium and Culex pipiens biotype pipiens. We collected egg rafts of Culex mosquitoes over two subsequent seasons at two geographically distinct sampling areas in Germany and differentiated the samples by molecular methods. Adult females, reared from the various egg rafts, were challenged with WNV by feeding of artificial blood meals. WNV infection was confirmed by real-time RT-PCR and virus titration. The results showed that field collected C. pipiens biotype pipiens and C. torrentium mosquitoes native to Germany are susceptible to WNV infection at 25 °C as well as 18 °C incubation temperature. C. torrentium mosquitoes, which have not been established as WNV vector so far, were the most permissive species tested with maximum infection rates of 96% at 25 °C. Furthermore, a disseminating infection was found in up to 94% of tested C. pipiens biotype pipiens and 100% of C. torrentium. Considering geographical variation of susceptibility, C. pipiens biotype pipiens mosquitoes from Southern Germany were more susceptible to WNV infection than corresponding populations from Northern Germany. All in all, we observed high infection and dissemination rates even at a low average ambient temperature of 18 °C. The high susceptibility of German Culex populations for WNV indicates that an enzootic transmission cycle in Germany could be possible.

  1. Molecular characterization of the hexose transporter gene in benznidazole resistant and susceptible populations of Trypanosoma cruzi

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    dos Santos Paula F

    2012-08-01

    Full Text Available Abstract Background Hexose transporters (HT are membrane proteins involved in the uptake of energy-supplying glucose and other hexoses into the cell. Previous studies employing the Differential Display technique have shown that the transcription level of the HT gene from T. cruzi (TcrHT is higher in an in vitro-induced benznidazole (BZ-resistant population of the parasite (17 LER than in its susceptible counterpart (17 WTS. Methods In the present study, TcrHT has been characterized in populations and strains of T. cruzi that are resistant or susceptible to BZ. We investigated the copy number and chromosomal location of the gene, the levels of TcrHT mRNA and of TcrHT activity, and the phylogenetic relationship between TcrHT and HTs from other organisms. Results In silico analyses revealed that 15 sequences of the TcrHT gene are present in the T. cruzi genome, considering both CL Brener haplotypes. Southern blot analyses confirmed that the gene is present as a multicopy tandem array and indicated a nucleotide sequence polymorphism associated to T. cruzi group I or II. Karyotype analyses revealed that TcrHT is located in two chromosomal bands varying in size from 1.85 to 2.6 Mb depending on the strain of T. cruzi. The sequence of amino acids in the HT from T. cruzi is closely related to the HT sequences of Leishmania species according to phylogenetic analysis. Northern blot and quantitative real-time reverse transcriptase polymerase chain reaction analyses revealed that TcrHT transcripts are 2.6-fold higher in the resistant 17 LER population than in the susceptible 17 WTS. Interestingly, the hexose transporter activity was 40% lower in the 17 LER population than in all other T. cruzi samples analyzed. This phenotype was detected only in the in vitro-induced BZ resistant population, but not in the in vivo-selected or naturally BZ resistant T. cruzi samples. Sequencing analysis revealed that the amino acid sequences of the TcrHT from 17WTS and 17

  2. Changes in population susceptibility to heat and cold over time: assessing adaptation to climate change.

    Science.gov (United States)

    Arbuthnott, Katherine; Hajat, Shakoor; Heaviside, Clare; Vardoulakis, Sotiris

    2016-03-08

    In the context of a warming climate and increasing urbanisation (with the associated urban heat island effect), interest in understanding temperature related health effects is growing. Previous reviews have examined how the temperature-mortality relationship varies by geographical location. There have been no reviews examining the empirical evidence for changes in population susceptibility to the effects of heat and/or cold over time. The objective of this paper is to review studies which have specifically examined variations in temperature related mortality risks over the 20(th) and 21(st) centuries and determine whether population adaptation to heat and/or cold has occurred. We searched five electronic databases combining search terms for three main concepts: temperature, health outcomes and changes in vulnerability or adaptation. Studies included were those which quantified the risk of heat related mortality with changing ambient temperature in a specific location over time, or those which compared mortality outcomes between two different extreme temperature events (heatwaves) in one location. The electronic searches returned 9183 titles and abstracts, of which eleven studies examining the effects of ambient temperature over time were included and six studies comparing the effect of different heatwaves at discrete time points were included. Of the eleven papers that quantified the risk of, or absolute heat related mortality over time, ten found a decrease in susceptibility over time of which five found the decrease to be significant. The magnitude of the decrease varied by location. Only two studies attempted to quantitatively attribute changes in susceptibility to specific adaptive measures and found no significant association between the risk of heat related mortality and air conditioning prevalence within or between cities over time. Four of the six papers examining effects of heatwaves found a decrease in expected mortality in later years. Five studies

  3. Susceptibility of Nebraska Western Corn Rootworm (Coleoptera: Chrysomelidae) Populations to Bt Corn Events.

    Science.gov (United States)

    Wangila, David S; Gassmann, Aaron J; Petzold-Maxwell, Jennifer L; French, B Wade; Meinke, Lance J

    2015-04-01

    Transgenic plants have been widely adopted by growers to manage the western corn rootworm, Diabrotica virgifera virgifera LeConte, in field corn. Because of reduced efficacy in some Nebraska fields after repeated use of Cry3Bb1-expressing hybrids, single plant bioassays were conducted in 2012 and 2013 to characterize the susceptibility of western corn rootworm populations to the rootworm-active proteins Cry3Bb1, mCry3A, and Cry34/35Ab1. Results demonstrate that there are heritable differences in susceptibility of Nebraska western corn rootworm populations to rootworm-active Bt traits. Proportional survival and corrected survival data coupled with field histories collectively support the conclusion that a level of field resistance to Cry3Bb1 has evolved in some Nebraska populations in response to selection pressure and that cross-resistance exists between Cry3Bb1 and mCry3A. There was no apparent cross-resistance between Cry34/35Ab1 and either Cry3Bb1 or mCry3A. The potential implications of these results on current and future corn rootworm management strategies are discussed. © The Authors 2015. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  4. Immune transcript variations among Aedes aegypti populations with distinct susceptibility to dengue virus serotype 2.

    Science.gov (United States)

    Carvalho-Leandro, D; Ayres, C F J; Guedes, D R D; Suesdek, L; Melo-Santos, M A V; Oliveira, C F; Cordeiro, M T; Regis, L N; Marques, E T; Gil, L H; Magalhaes, T

    2012-11-01

    The innate immune response of insects is one of the factors that may dictate their susceptibility to viral infection. Two immune signaling pathways, Toll and JAK-STAT, and the RNA interference (RNAi) pathway are involved in Aedes aegypti responses against dengue virus (DENV), however natural differences in these antiviral defenses among mosquito populations have not been studied. Here, two field Ae. aegypti populations from distinct ecological environments, one from Recife and the other from Petrolina (Brazil), and a laboratory strain were studied for their ability to replicate a primary isolate of dengue virus serotype 2 (DENV-2). Virus infectivity and replication were determined in insect tissues collected after viral exposure through reverse-transcription real time PCR (RT-PCR). The expression of a transcript representing these defense mechanisms (Toll, JAK-STAT and RNAi) in the midgut and fat body was studied with RT-PCR to evaluate variations in innate immune mechanisms possibly employed against DENV. Analyses of infection rates indicated that the field populations were more susceptible to DENV-2 infection than the lab strain. There were distinct expression patterns among mosquito populations, in both control and infected insects. Moreover, lower expression of immune molecules in DENV-2-infected insects compared to controls was observed in the two field populations. These results suggest that natural variations in vector competence against DENV may be partly due to differences in mosquito defense mechanisms, and that the down-regulation of immune transcripts after viral infection depends on the insect strain. Copyright © 2012 Elsevier B.V. All rights reserved.

  5. Population Susceptibility to Insecticides and the Development of Resistance in Bactrocera cucurbitae (Diptera: Tephritidae).

    Science.gov (United States)

    Jin, Tao; Lin, Yu-Ying; Jin, Qi-An; Wen, Hai-Bo; Peng, Zheng-Qiang

    2016-04-01

    Excessive insecticide applications are commonly used to manage Bactrocera cucurbitae Coquillett in China. Resistance status, resistance development trends, and patterns of cross-resistance to insecticides in B. cucurbitae were investigated. Among 21 populations from Hainan Island, two populations expressed high resistance to beta-cypermethrin; seven, eight, and ten populations expressed intermediate resistance to spinosad, avermectin, and beta-cypermethrin, respectively; four, six, one, five, and four populations expressed low resistance to spinosad, avermectin, trichlorfon, beta-cypermethrin, and fipronil, respectively; and the remaining populations exhibited either minor resistance or remained susceptible. Analysis of the development of resistance showed that resistance levels to spinosad and avermectin were readily developed at 40.68- and 18.42-fold, respectively, and a spinosad-resistant strain also showed relative positive cross-resistance to beta-cypermethrin and avermectin, but relative negative cross-resistance to trichlorfon and fipronil. These data represent the most extensive survey of insecticide resistance conducted in B. cucurbitae to date, and the level of insecticide resistance in populations should be considered when designing control measures and pest management strategies.

  6. Ethical, social, and legal issues surrounding studies of susceptible populations and individuals.

    Science.gov (United States)

    Soskolne, C L

    1997-01-01

    Calls for professional accountability have resulted in the development of ethics guidelines by numerous specialty and subspecialty groups of scientists. Indeed, guidelines among some health professions now address vulnerable and dependent groups: but these are silent on issues related to biomarkers. In parallel, attention has been drawn to human rights concerns associated with attempts to detect hypersusceptible workers, especially in democratic countries. Despite this, concern for vulnerable populations grows as advances in biomarker technology make the identification of genetic predisposition and susceptibility markers of both exposure and outcome more attainable. In this article, the principles derived from the ethical theory of utilitarianism provide the basis for principle-based ethical analysis. In addition, the four principles of biomedical ethics--respect for autonomy, beneficence, nonmaleficence, and social justice--are considered for biomarker studies. The need for a context in which ethical analysis is conducted and from which prevailing social values are shown to drive decisions of an ethical nature is emphasized; these include statutory regulation and law. Because biomarker studies can result in more harm than good, special precautions to inform research participants prior to any involvement in the use of biomarkers are needed. In addition, safeguards to maintain the privacy of data derived from biomarker studies must be developed and implemented prior to the application of these new technologies. Guidelines must be expanded to incorporate ethical, social, and legal considerations surrounding the introduction of new technologies for studying susceptible populations and individuals who may be vulnerable to environmental exposures. PMID:9255569

  7. Esterase profile of Rhipicephalus (Boophilus) microplus populations collected from Northern India exhibiting varied susceptibility to deltamethrin.

    Science.gov (United States)

    Abdullah, Swaid; Yadav, C L; Vatsya, Stuti

    2012-11-01

    Rhipicephalus (Boophilus) microplus is an economically important ectoparasite of cattle. Chemical acaricides remain the most practical method for control of these pests. During past two decades there have been increasing reports of resistance development against synthetic pyrethroids in tick populations of this species throughout the world. A study was conducted to determine the level of susceptibility of R. (B.) microplus to deltamethrin collected from different geographical locations of northern India. LPT bioassay results revealed LC(50) values of deltamethrin ranging from 0.035 to 0.00037 % A.I. Esterase profile of the tick larval extracts using native PAGE, revealed 5 bands of esterase activity designated EST-5 to EST-1A. Inhibitory tests recognized EST-1, EST-2 and EST-3 as Acetylcholinesterases (AchEs), EST-4 and EST-5 as Carboxylesterases (CaEs). The band intensity varied between tick populations of various locations, being more intense in case of the resistant populations. An extra band of esterase activity (EST-1A) was obtained in larval extracts of ticks from 3 locations. This increased esterase activity may be involved in the resistance development in these tick populations. Acaricide resistance is a multi-factorial phenomenon, thus other causes of increased resistance like sodium channel mutation and reduced drug penetration (e.g. cuticle thickening) and behavioural changes (e.g. avoiding the pesticides) are to be tested in future in order to confirm the basic cause of the resistance development in these acaricide resistant tick populations.

  8. Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population.

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    Li Zhang

    Full Text Available This study aims to determine whether the genetic polymorphisms of IL-12B gene is a susceptibility factor to Ankylosing spondylitis (AS in mainland Han Chinese population.Eight single-nucleotide polymorphisms (SNPs (rs10045431, rs11167764, rs3212227, rs6556412, rs6556416, rs6871626, rs6887695 and rs7709212 in the IL-12B gene were genotyped by iMLDR Assay technology in 400 patients [96% (384/400 HLA-B27(+] and 395 geographically and ethnically matched healthy controls in mainland Han Chinese population. The correlation between IL-12B genetic polymorphisms and AS activity index (BASDAI, BASFI were tested.The significant difference was found in genotype distribution between AS and healthy controls (χ2 = 6.942, P-value = 0.031 of the SNP rs6871626. Furthermore, significant evidence was also detected under the recessive model for minor allele A. The AA genotype carrier had 1.830 fold risk compared with C allele carrier (with CC and AC genotypes [OR (95% CI = 1.830 (1.131-2.961, P-value = 0.014]. Nevertheless, the difference was no longer significant after Bonferroni correction. Subset analysis on cases with HLA-B27(+ did find the same results. Three genotypic groups (AA, CC and CA in rs6871626 site was highly associated with the BASDAI and BASFI (P-value = 0.012 and P-value = 0.023, respectively, after adjustment for effect of age, sex, and disease duration, the P-value was 0.031 and 0.041, respectively. The AA genotype of rs6871626 was also significantly correlated with an increased BASDAI and BASFI compared to the AC and CC genotypes in AS patients.Our findings suggest that rs6871626 may be associated AS susceptibility and with disease activity (BASDAI, BASFI in mainland Han Chinese population.

  9. Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

    Science.gov (United States)

    Villanueva, Pia; Newbury, Dianne F; Jara, Lilian; De Barbieri, Zulema; Mirza, Ghazala; Palomino, Hernán M; Fernández, María Angélica; Cazier, Jean-Baptiste; Monaco, Anthony P; Palomino, Hernán

    2011-01-01

    Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL=6.73, P=4.0 × 10−11). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P=0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments. PMID:21248734

  10. Replication of British Rheumatoid Arthritis Susceptibility Loci in Two Unrelated Chinese Population Groups

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    Hua Li

    2013-01-01

    Full Text Available Previous genome-wide association study by WTCCC identified many susceptibility loci of common autoimmune diseases in British, including rheumatoid arthritis (RA. Because of the genetic heterogeneity of RA, it is necessary to replicate these susceptibility loci in other populations. Here, three SNPs with strong RA association signal in the British were analyzed in Han Chinese, and two SNPs (rs6457617 and rs11761231 were genotyped in the test cohort firstly. The rs6457617 was significantly associated with RA in the test cohort. The individuals bearing the homozygous genotype CC had 0.39-fold risk than these bearing the wild-type genotype TT (P=0.004, OR 0.39, [95% CI 0.21–0.74]. And the protective effect of allele C was confirmed in another validation cohort with 1514 samples (Pgenotye CC/TT=5.9   ×  10−10, OR 0.34, [95% CI 0.24–0.48]. The rs6457617 can be used as a tagSNP of HLA-DQA1*03 which encoded MHC-II α chain. Since MHC restriction is important for primary T-cells in positive selection and negative selection stages, MHC protein polymorphisms may be implicated in shaping the T-cell repertoire, including the emergence of a T-cell clone involved in the inflammatory arthritis.

  11. Association of human platelet antigens polymorphisms with susceptibility to hepatitis C virus infection in Chinese population.

    Science.gov (United States)

    Zhou, S-H; Liang, X-H; Shao, L-N; Yu, W-J; Zhao, C; Liu, M

    2017-12-01

    Hepatitis C virus (HCV) is a major cause of chronic hepatitis. Previous studies have identified a number of single nucleotide polymorphisms that are associated with HCV infection. Human platelet antigens (HPAs) polymorphisms play an important role in several diseases. Here, we demonstrated the association of the HPA-2, HPA-3, HPA-5 and HPA-15 polymorphisms with susceptibility to HCV infection in Chinese population. Overall, 118 patients with HCV and 167 controls were genotyped for HPAs. There were no significant differences in the allele and genotype frequency distribution for the HPA-3, HPA-5 and HPA-15 systems between the patients with chronic HCV infection and the healthy controls (p > .05). However, the genotype frequency of HPA-2aa was significantly lower, while HPA-2ab/bb was significantly higher in patients than that in the controls (p = .006). The allele frequency of HPA-2a in patients was significantly lower than that in the control group (p = .005). In contrast, HPA-2b in patients was significantly higher than that in the control group (p = .005). We conclude that HPA-2 polymorphism is associated with susceptibility to HCV infection, and individuals carrying the HPA-2b allele may have a higher risk of HCV infection compared with individuals carrying HPA-2a. © 2017 John Wiley & Sons Ltd.

  12. An increasing, potentially measles-susceptible population over time after vaccination in Korea.

    Science.gov (United States)

    Kang, Hae Ji; Han, Young Woo; Kim, Su Jin; Kim, You-Jin; Kim, A-Reum; Kim, Joo Ae; Jung, Hee-Dong; Eom, Hye Eun; Park, Ok; Kim, Sung Soon

    2017-07-24

    In Korea, measles occurs mainly in infants measles infection. Age-specific measles seroprevalence was evaluated by performing enzyme immunoassays and plaque reduction-neutralization tests on 3050 subjects aged 0-50years (birth cohort 1964-2014) and 480 subjects aged 2-30years (birth cohort 1984-2012). The overall seropositivity and measles antibody concentrations were 71.5% and 1366mIU/mL, respectively. Progressive decline in antibody levels and seropositivity were observed over time after vaccination in infants, adolescents, and young adults. The accumulation of potentially susceptible individuals in the population was confirmed by comparing data from 2010 and 2014 seroprevalence surveys. The statistical correlation between measles incidence and measles seronegativity was determined. Waning levels of measles antibodies with increasing time post-vaccination suggests that measles susceptibility is potentially increasing in Korea. This trend may be related to limitations of vaccine-induced immunity in the absence of natural boosting by the wild virus, compared to naturally acquired immunity triggered by measles infection. This study provides an important view into the current measles herd immunity in Korea. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. Application of stress susceptibility index for drought tolerance screening of tomato populations

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    Zdravković Jasmina

    2013-01-01

    Full Text Available Investigation comprised 41 tomato genotypes originating from the population of domestic and domesticated genotypes collected in Serbia and belonging to the tomato collection of the Institute of Vegetable Crop Science, Smederevska Palanka. The aim of collection screening was to choose the genotypes tolerant to drought during plant intensive growth stage, whereby the process of selection would set out to obtain the recombinant genotypes for this abiotic factor. The screening criteria were established for genotype divergence in plant height and shoot-root ratio under conditions of optimal irrigation regime and drought. Divergence was estimated using cluster analysis with Euclidean distance as a measure of distance, with a complete gene attachment to grouping. Drought tolerance is expressed by the stress susceptibility index (SSI. Various results were obtained based on the screening of genotypes grown under optimal and dry conditions. As a measure of stress susceptibility, based on SSI, genotypes having different drought tolerance level were determined. On the grounds of the analyses carried out, 10 genotypes were segregated (G102, G104, G107, G109, G110, G119, G125, G126, G128 and G141 to represent a basis to obtain the recombinant genotypes and to initiate the selection for drought resistance. [Projekat Ministarstva nauke Republike Srbije, br. TR 31005 i br. TR 31059

  14. A simple estimate of the general population frequency of the MHC susceptibility gene for autoimmune polygenic disease.

    Science.gov (United States)

    Alper, C A; Dubey, D P; Yunis, E J; Awdeh, Z

    2000-01-01

    We wished to determine the frequencies of the MHC and non-MHC susceptibility genes for polygenic autoimmune diseases like type 1 diabetes (IDDM). We used Mendelian inheritance and the Hardy-Weinberg equilibrium to calculate the frequencies of mating pairs and susceptible offspring under classical recessive and dominant inheritance of the MHC susceptibility gene. We then analyzed the distribution of haplotype sharing by affected sib pairs of the 4 MHC haplotypes in each of the kinds of mating pairs in terms of the frequency of the disease susceptibility gene. For IDDM, the analysis was consistent with a recessive, but not a dominant, MHC susceptibility gene of frequency 0.525 at a distribution of 55, 38 and 7% of affected sib pairs who share 2, 1 and 0 MHC haplotypes, respectively. A simple relationship was obtained: if inheritance is recessive, the MHC susceptibility gene frequency is the square root of the fraction of affected sib pairs who share no MHC haplotypes multiplied by 4. For recessive inheritance, affected sib pairs who share no haplotypes are solely in families where both parents are homozygous MHC-susceptible. Although homozygous MHC susceptibles represent over 25% of the population, only 2-3% of them are IDDM-susceptible at non-MHC susceptibility loci, also required for disease expression. Predictions from our analysis fit all published observations of the familial occurrence of disease. The analysis is general, simple and provides a single estimate (not a range) of the MHC susceptibility gene frequency. This approach should be applicable to other MHC-determined polygenic diseases. Copyright 2000 S. Karger AG, Basel

  15. Molecular characterization of lipoamide dehydrogenase gene in Trypanosoma cruzi populations susceptible and resistant to benznidazole.

    Science.gov (United States)

    Dos Santos, Paula F; Moreira, Douglas S; Baba, Elio H; Volpe, Caroline M O; Ruiz, Jerônimo C; Romanha, Alvaro J; Murta, Silvane M F

    2016-11-01

    Lipoamide dehydrogenase (LipDH) is a flavin-containing disulfide oxidoreductase from the same group of thioredoxin reductase, glutathione reductase and trypanothione reductase. This enzyme is found in the mitochondria of all aerobic organisms where it takes part in at least three important multienzyme complexes from the citric acid cycle. In this study, we performed a phylogenetic analysis comparing the amino acid sequence of the LipDH from Trypanosoma cruzi (TcLipDH) with the LipDH from other organisms. Subsequently, the copy number of the TcLipDH gene, the mRNA and protein levels, and the enzymatic activity of the LipDH were determined in populations and strains of T. cruzi that were either resistant or susceptible to benznidazole (BZ). In silico analysis showed the presence of two TcLipDH alleles in the T. cruzi genome. It also showed that TcLipDH protein has less than 55% of identity in comparison to the human LipDH, but the active site is conserved in both of them. Southern blot results suggest that the TcLipDH is a single copy gene in the genome of the T. cruzi samples analyzed. Northern blot assays showed one transcript of 2.4 kb in all T. cruzi populations. Northern blot and Real Time RT-PCR data revealed that the TcLipDH mRNA levels were 2-fold more expressed in the BZ-resistant T. cruzi population (17LER) than in its susceptible pair (17WTS). Western blot results revealed that the TcLipDH protein level is 2-fold higher in 17LER sample in comparison to 17WTS sample. In addition, LipDH activity was higher in the 17LER population than in the 17WTS. Sequencing analysis revealed that the amino acid sequences of the TcLipDH from 17WTS and 17LER populations are identical. Our findings show that one of the mechanisms associated with in vitro-induced BZ resistance to T. cruzi correlates with upregulation of LipDH enzyme. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. HLA class II polymorphism and IDDM susceptibility in the Greek population.

    Science.gov (United States)

    Khalil, I; Spyropoulou, M; Mallet, C; Loste, M N; Douay, C; Laperrière, J; Bartzokas, C; Lepage, V; Charron, D; Stavropoulos, C

    1993-06-01

    The frequencies of HLA-DQA1, DQB1 and DRB1 alleles were compared between 50 Insulin-Dependent Diabetes Melitus (IDDM) patients and 49 healthy controls in the Greek population. Statistically significant difference in the frequencies of HLA-DQA1*0501-DQB1*0201 (P = 10(-4)), DQA1*0301-DQB1*0201 (P = 0.01) and DQA1*0301-DQB1*0302 (P = 0.001) were observed. The DRB1*0405-DQA1*0301-DQB1*0201 was the only DR, DQ combination significantly associated with the disease. The unexpected increase of DRB1*0405 observed in the Greek IDDM may suggest as reported in Chinese and Japanese IDDM a contribution of DR beta and DQ alpha in susceptibility. Moreover, in contrast to the Asians, in the Greek, the DR beta, DQ alpha are found with the usual DQ beta 57-ve.

  17. CHRNA5 polymorphism and susceptibility to lung cancer in a Chinese population

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    Shen, Bo [Jiangsu Cancer Hospital, Department of Medical Oncology, Nanjing, Jiangsu Province (China); Zhu, Qun [Second Affiliated Hospital, Nanjing Medical University, Department of Endocrinology, Nanjing, Jiangsu Province (China); Zheng, Ma-Qing [College of Pharmacy, Nanjing University of Technology, Nanjing, Jiangsu Province (China); Chen, Jia; Shi, Mei-Qi; Feng, Ji-Feng [Jiangsu Cancer Hospital, Department of Medical Oncology, Nanjing, Jiangsu Province (China)

    2013-01-11

    Polymorphisms in the nicotinic acetylcholine receptor subunit CHRNA5 gene have been associated with lung cancer positive susceptibility in European and American populations. In the present hospital-based, case-control study, we determined whether polymorphism in rs503464 of CHRNA5 is associated with lung cancer risk in Chinese individuals. A single nucleotide polymorphism in CHRNA5 rs503464, c.-166T>A (hereafter T>A), was identified using TaqMan-MGB probes with sequencing via PCR in 600 lung cancer cases and 600 healthy individuals. Genotype frequencies for rs503464 (T>A) were in Hardy-Weinberg equilibrium for the control population. However, genotype frequencies were significantly different between cases and controls (P < 0.05), while allele frequencies were not significantly different between groups. Compared to homozygous genotypes (TT or AA), the risk of lung cancer in those with the heterozygous genotype (TA) was significantly lower (OR = 0.611, 95%CI = 0.486-0.768, P = 0.001). Using genotype AA as a reference, the risk of lung cancer for those with genotype TA was increased 1.5 times (OR = 1.496, 95%CI = 1.120-1.997, P = 0.006). However, no difference in risk was observed between T allele carriers and A allele carriers (OR = 0.914, 95%CI = 0.779-1.073, P = 0.270). Stratification analysis showed that the protective effect of TA was more pronounced in those younger than 60 years, nonsmokers, or those without a family history of cancer, as well as in patients with adenocarcinoma or squamous cell carcinoma in clinical stages III or IV (P < 0.05). Therefore, the heterozygous genotype c.-166T>A at rs503464 of CHRNA5 may be associated with reduced risk of lung cancer, thus representing a susceptibility allele in Chinese individuals.

  18. Osteoprotegerin Gene (OPG) Polymorphisms Associated with Peri-implantitis Susceptibility in a Chinese Han Population.

    Science.gov (United States)

    Zhou, Jian; Zhao, Yimin

    2016-11-09

    BACKGROUND The aim of this study was to investigate the association between T950C (rs2073617) and G1181C (rs2073618) polymorphisms of the osteoprotegerin gene (OPG) and the susceptibility of peri-implantitis in the Chinese Han population.  MATERIAL AND METHODS 110 patients with peri-implantitis and 116 healthy persons from the Chinese Han population were included in this study using a case-control design; rs2073617 and rs2073618 in OPG were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The linkage disequilibrium (LD) and haplotype analysis were performed with Haploview software. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of OPG polymorphisms. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and the relative risk of PD was expressed by odds ratio (OR) and 95% confidence interval (CI).  RESULTS The study results showed that people carrying the CC genotype of rs2073618 were more likely to have peri-implantitis than GG genotype carriers (OR=2.18, 95% CI=1.03-4.62, p=0.04). In addition, patients with the C allele had 1.47 times the risk of suffering from peri-implantitis (OR=1.47, 95% CI=1.01-2.13, p=0.04), but not rs2073617 polymorphism. The G-C haplotype frequency of rs2073618-rs2073617 in OPG was significantly correlated to the increased susceptibility of peri-implantitis (OR=2.27, 95% CI=1.20-4.30).  CONCLUSIONS OPG rs2073618 polymorphism may be related to the risk of peri-implantitis, but not rs2073617. Moreover, haplotype is also a non-ignorable risk factor.

  19. CHRNA5 polymorphism and susceptibility to lung cancer in a Chinese population

    International Nuclear Information System (INIS)

    Shen, Bo; Zhu, Qun; Zheng, Ma-Qing; Chen, Jia; Shi, Mei-Qi; Feng, Ji-Feng

    2013-01-01

    Polymorphisms in the nicotinic acetylcholine receptor subunit CHRNA5 gene have been associated with lung cancer positive susceptibility in European and American populations. In the present hospital-based, case-control study, we determined whether polymorphism in rs503464 of CHRNA5 is associated with lung cancer risk in Chinese individuals. A single nucleotide polymorphism in CHRNA5 rs503464, c.-166T>A (hereafter T>A), was identified using TaqMan-MGB probes with sequencing via PCR in 600 lung cancer cases and 600 healthy individuals. Genotype frequencies for rs503464 (T>A) were in Hardy-Weinberg equilibrium for the control population. However, genotype frequencies were significantly different between cases and controls (P < 0.05), while allele frequencies were not significantly different between groups. Compared to homozygous genotypes (TT or AA), the risk of lung cancer in those with the heterozygous genotype (TA) was significantly lower (OR = 0.611, 95%CI = 0.486-0.768, P = 0.001). Using genotype AA as a reference, the risk of lung cancer for those with genotype TA was increased 1.5 times (OR = 1.496, 95%CI = 1.120-1.997, P = 0.006). However, no difference in risk was observed between T allele carriers and A allele carriers (OR = 0.914, 95%CI = 0.779-1.073, P = 0.270). Stratification analysis showed that the protective effect of TA was more pronounced in those younger than 60 years, nonsmokers, or those without a family history of cancer, as well as in patients with adenocarcinoma or squamous cell carcinoma in clinical stages III or IV (P < 0.05). Therefore, the heterozygous genotype c.-166T>A at rs503464 of CHRNA5 may be associated with reduced risk of lung cancer, thus representing a susceptibility allele in Chinese individuals

  20. Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population

    Directory of Open Access Journals (Sweden)

    Aya Kawasaki

    2010-01-01

    Full Text Available Recent genome-wide association studies demonstrated association of single nucleotide polymorphisms (SNPs in the TNFAIP3 region at 6q23 with systemic lupus erythematosus (SLE in European-American populations. In this study, we investigated whether SNPs in the TNFAIP3 region are associated with SLE also in a Japanese population. A case-control association study was performed on the SNPs rs13192841, rs2230926, and rs6922466 in 318 Japanese SLE patients and 444 healthy controls. Association of rs2230926 G allele with SLE was replicated in Japanese (allelic association P=.033, odds ratio [OR] 1.47, recessive model P=.023, OR 8.52. The association was preferentially observed in the SLE patients with nephritis. When the TNFAIP3 mRNA levels of the HapMap samples were examined using GENEVAR database, the presence of TNFAIP3 rs2230926 G allele was associated with lower mRNA expression of TNFAIP3 (P=.013. These results indicated that TNFAIP3 is a susceptibility gene to SLE both in the Caucasian and Asian populations.

  1. Population-dependent contribution of the major histocompatibility complex region to schizophrenia susceptibility.

    Science.gov (United States)

    Yamada, Kazuo; Hattori, Eiji; Iwayama, Yoshimi; Toyota, Tomoko; Iwata, Yasuhide; Suzuki, Katsuaki; Kikuchi, Mitsuru; Hashimoto, Tasuku; Kanahara, Nobuhisa; Mori, Norio; Yoshikawa, Takeo

    2015-10-01

    There is consistent data from European cohorts suggesting a genetic contribution from the major histocompatibility complex (MHC) to the pathogenesis of schizophrenia. However, the genomic complexity and ethnicity-specific diversity found in the MHC cause difficulties in identifying causal variants or genes, and there is a need for studies encompassing the entire MHC region in multiple ethnic populations. Here, we report on association signals in the MHC region, with schizophrenia in the Japanese population. We genotyped and imputed a total of 10,131 single nucleotide polymorphisms (SNPs), spanning the entire MHC interval. The analysis included 3302 participants (1518 schizophrenics and 1784 healthy controls) from the Japanese population. In this study, we present evidence for association at rs494620, located in the SLC44A4 gene. The association survived after correction for multiple testing (unadjusted P=7.78×10(-5), empirical P=0.0357). The imputation results detected the highest association at rs707937 in the MSH5-SAPCD1 gene (imputed P=8.40×10(-5)). In expression analysis using postmortem brains from schizophrenia and control samples, MSH5-SAPCD1 showed marginally significant expression differences in Brodmann's area 46 (P=0.044 by unpaired t test with Welch's correction, P=0.099 by Mann-Whitney U test). Our study further strengthens evidence for the involvement of the MHC in schizophrenia across populations, and provides insight into population-specific mechanisms for the MHC region in schizophrenia susceptibility. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population

    Directory of Open Access Journals (Sweden)

    Priscila FALAGAN-LOTSCH

    2015-08-01

    susceptibility in a Brazilian population, but supported the different genetic background between CL±P and CP. Moreover, we confirmed the potential effect of maternal alcohol intake on cleft risk in our population.

  3. Classic clover cline clues.

    Science.gov (United States)

    Olson, Matthew S; Levsen, Nicholas

    2012-05-01

    Adaptive clines are striking examples of natural selection in action, yet few have been studied in depth. In this issue of Molecular Ecology, Kooyers & Olsen (2012) introduce modern analyses and thinking towards studies of a classical example of the rapid and repeated evolution of latitudinal and altitudinal clines in cyanogenesis in white clover, Trifolium repens L. Recognizing that adaptive clines represent trade-offs in the selective benefits of traits at different ends of a geographical transect, these researchers focus on whether evidence for selection can be found at regional (coarse) and local (fine) scales. After adjusting for population genetic patterns generated by demographic processes, Kooyers and Olsen provide evidence that the cyanogenesis cline is adaptive across a transect from Louisiana to Wisconsin, USA. Within local populations, divergent selection on coupling dominant and recessive alleles that underlie cyanogenesis is predicted to drive populations to gametic phase disequilibrium (LD), a pattern that has been found in several other studies reviewed by Kooyers and Olsen. The absence of LD within any sampled populations in this study leads the authors to suggest that selective patterns within these clines may be more complex than previously proposed, perhaps even following theoretical predictions of a geographic mosaic. © 2012 Blackwell Publishing Ltd.

  4. Divergent oestrogen receptor-specific breast cancer trends in Ireland (2004-2013): Amassing data from independent Western populations provide etiologic clues.

    Science.gov (United States)

    Mullooly, Maeve; Murphy, Jeanne; Gierach, Gretchen L; Walsh, Paul M; Deady, Sandra; Barron, Thomas I; Sherman, Mark E; Rosenberg, Philip S; Anderson, William F

    2017-11-01

    The aetiology and clinical behaviour of breast cancers vary by oestrogen receptor (ER) expression, HER2 expression and over time. Data from the United States and Denmark show rising incidence rates for ER+ and falling incidence rates for ER- breast cancers. Given that Ireland is a somewhat similar Western population but with distinctive risk exposures (especially for lactation), we analysed breast cancer trends by ER status; and for the first time, by the joint expression of ER±/HER2±. We assessed invasive breast cancers (n = 24,845; 2004-2013) within the population-based National Cancer Registry of Ireland. The population at risk was obtained from the Irish Central Statistics Office (n = 10,401,986). After accounting for missing ER and HER2 data, we assessed receptor-specific secular trends in age-standardised incidence rates (ASRs) with the estimated annual percentage change (EAPC) and corresponding 95% confidence intervals (95% CI). Age-period-cohort models were also fitted to further characterise trends accounting for age, calendar-period and birth-cohort interactions. ASRs increased for ER+ (EAPC: 2.2% per year [95% CI: 0.97, 3.45%/year]) and decreased for ER- cancers (EAPC: -3.43% per year [95% CI: -5.05, -1.78%/year]), as well as for specific age groups at diagnosis (Ireland were like those previously observed. Stratification by HER2± expression did not substantively alter ER± trends. The divergence of ER± incidence rates among independent Western populations likely reflects calendar-period and/or risk factor changes with differential effects for ER+ and ER- breast cancers. Published by Elsevier Ltd.

  5. Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

    International Nuclear Information System (INIS)

    Palomba, Grazia; Loi, Angela; Porcu, Eleonora; Cossu, Antonio; Zara, Ilenia

    2015-01-01

    Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 10 −6 level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10 −5 , we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16x10 −5 ), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population. The online version of this article (doi:10.1186/s12885-015-1392-9) contains supplementary material, which is available to authorized users

  6. Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

    Science.gov (United States)

    Palomba, Grazia; Loi, Angela; Porcu, Eleonora; Cossu, Antonio; Zara, Ilenia; Budroni, Mario; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Olmeo, Nina; Ionta, Maria Teresa; Atzori, Francesco; Cuccuru, Gianmauro; Pitzalis, Maristella; Zoledziewska, Magdalena; Olla, Nazario; Lovicu, Mario; Pisano, Marina; Abecasis, Gonçalo R; Uda, Manuela; Tanda, Francesco; Michailidou, Kyriaki; Easton, Douglas F; Chanock, Stephen J; Hoover, Robert N; Hunter, David J; Schlessinger, David; Sanna, Serena; Crisponi, Laura; Palmieri, Giuseppe

    2015-05-10

    Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p <  0(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population.

  7. Association of polymorphisms of heat shock protein 70 with susceptibility to noise-induced hearing loss in the Taiwanese population.

    Science.gov (United States)

    Chang, Ning-Chia; Ho, Chi-Kung; Lin, Hsing-Yi; Yu, Ming-Lung; Chien, Chen-Yu; Ho, Kuen-Yao

    2011-01-01

    Noise-induced hearing loss (NIHL) is the major cause of adult sensorineural hearing loss. It is a complex disease caused by the interaction of environmental and genetic factors. Previous studies found that heat shock proteins (HSPs) were associated with the development of NIHL. Specifically, polymorphisms in the heat shock protein 70 (HSP70) gene family are associated with a susceptibility to NIHL. In this study, three single nucleotide polymorphisms (SNPs) of the HSP70 family (SNP1: rs2075800; SNP2: rs1043618; SNP3: rs2763979) were genotyped in 349 noise-exposed Taiwanese workers. The subjects were categorized into noise-susceptible (NS; n = 27) and general susceptibility (GS; n = 322) groups by the change of a 4K-weighted audiometric average in an interval of 5 years. The G/C genotype of SNP2 was found to be associated with NIHL susceptibility (adjusted OR = 2.634; 95% CI = 1.096-6.328). No significant association was found for SNP1 and SNP3 with NIHL susceptibility. Analysis of haplotypes composed of these three SNPs revealed a significant association between NIHL susceptibility and haplotype CCC (OR = 2.197; 95% CI = 1.110-4.370). In conclusion, the genetic polymorphisms in the HSP70 genes seem to be associated with the individual's susceptibility to NIHL in the Taiwanese population. These findings could be used as a reference in the understanding and prevention of NIHL. Copyright © 2010 S. Karger AG, Basel.

  8. Association between SNPs in microRNA-machinery genes and tuberculosis susceptibility in Chinese Tibetan population.

    Science.gov (United States)

    Song, Xingbo; Li, Siyue; QuCuo, MeiLang; Zhou, MeiLang; Zhou, Yi; Hu, Xin; Zhou, Juan; Lu, Xiaojun; Wang, Jun; Hua, Wei; Ye, Yuanxin; Ying, Binwu; Wang, Lanlan

    2013-10-01

    Tuberculosis (TB) is caused by infection with Mycobacterium tuberculosis and remains a leading cause of morbidity and mortality caused by infectious agents worldwide. Although our current understanding of the pathogenesis of TB is far from clear, there is a growing body of evidence suggesting a genetic contribution to the etiology of TB. By analyzing 294 TB cases and 287 healthy controls in a Chinese Tibetan population, we used a candidate gene approach to evaluate the association between six single nucleotide polymorphisms (rs10719, rs3757, rs3742330, rs636832, rs7813, and rs3744741) in microRNA machinery genes and TB susceptibility. The genotypic distributions of rs3757 and rs3744741 in controls were not in accordance with the Hardy–Weinberg Equilibrium (P microRNA-632 (miR-632) and that the G allele alters the affinity of microRNA-mRNA binding by disrupting the local structure of dicer 1, ribonuclease type III (DICER) mRNA, presumably allowing for upregulated DICER expression. Taken together, our data suggest that common genetic variations DICER may influence TB risk, possibly through miR-632-mediated regulation. Replication of our studies in other populations will strengthen our understanding of this association.

  9. Nationwide assessment of insecticide susceptibility in Anopheles gambiae populations from Zimbabwe.

    Science.gov (United States)

    Lukwa, Nzira; Sande, Shadreck; Makuwaza, Aramu; Chiwade, Tonderai; Netsa, Martin; Asamoa, Kwame; Vazquez-Prokopec, Gonzalo; Reithinger, Richard; Williams, Jacob

    2014-10-17

    The scale-up of malaria interventions in sub-Saharan Africa has been accompanied by a dramatic increase in insecticide resistance in Anopheles spp. In Zimbabwe resistance to pyrethroid insecticides was reported in Gokwe District in 2008. This study reports results of the first nation-wide assessment of insecticide susceptibility in wild populations of Anopheles gambiae sensu lato (s.l.) in Zimbabwe, and provides a comprehensive review of the insecticide resistance status of An. gambiae s.l. in southern African countries. World Health Organization (WHO) insecticide susceptibility tests were performed on 2,568 field collected mosquitoes originating from 13 sentinel sites covering all endemic regions in Zimbabwe in 2011-2012. At each site, 24-hour mortality and knock-down values for 50% and 90% of exposed mosquitoes (KD50 and KD90, respectively) were calculated for pools of 20-84 (mean, 54) mosquitoes exposed to 4% DDT, 0.1% bendiocarb, 0.05% λ-cyhalothrin or 5% malathion. Susceptibility results from Zimbabwe were compiled with results published during 2002-2012 for all southern African countries to investigate the resistance status of An. gambiae s.l. in the region. Using WHO criteria, insecticide resistance was not detected at any site sampled and for any of the insecticide formulations tested during the malaria transmission season in 2012. Knock-down within 1 hr post-insecticide exposure ranged from 95% to 100%; mortality 24 hours post-insecticide exposure ranged from 98% to 100%. Despite the lack of insecticide resistance, high variability was found across sites in KD50 and KD90 values. A total of 24 out of 64 (37.5%) sites in southern Africa with reported data had evidence of phenotypic insecticide resistance in An. gambiae s.l. to at least one insecticide. Despite a long history of indoor residual spraying of households with insecticide, up to 2012 there was no evidence of phenotypic resistance to any of the four insecticide classes in An. gambiae s

  10. NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations

    Science.gov (United States)

    Chapman, Stephen J; Khor, Chiea C; Vannberg, Fredrik O; Rautanen, Anna; Segal, Shelley; Moore, Catrin E; Davies, Robert J O; Day, Nicholas P; Peshu, Norbert; Crook, Derrick W; Berkley, James A; Williams, Thomas N; Scott, J Anthony; Hill, Adrian V S

    2011-01-01

    The proinflammatory transcription factor nuclear factor-kappaB (NF-κB) plays a central role in host defence against pneumococcal disease. Both rare mutations and common polymorphisms in the NFKBIA gene encoding the NF-κB inhibitor IκB-α associate with susceptibility to bacterial disease, but the possible role of polymorphisms within the related IκB-ζ gene NFKBIZ in the development of invasive pneumococcal disease has not previously been reported. To investigate this further, we examined the frequencies of 22 single-nucleotide polymorphisms spanning NFKBIZ in two case-control studies, comprising UK Caucasian (n=1008) and Kenyan (n=723) individuals. Nine polymorphisms within a single UK linkage disequilibrium block and all four polymorphisms within the equivalent, shorter Kenyan linkage disequilibrium block displayed either significant association with invasive pneumococcal disease or a trend towards association. For each polymorphism, heterozygosity was associated with protection from invasive pneumococcal disease when compared to the combined homozygous states (e.g. for rs600718, Mantel-Haenszel 2×2 χ2=7.576, P=0.006, OR=0.67, 95% CI for OR: 0.51-0.88; for rs616597, Mantel-Haenszel 2×2 χ2=8.715, P=0.003, OR=0.65, 95% CI: 0.49-0.86). We conclude that multiple NFKBIZ polymorphisms associate with susceptibility to invasive pneumococcal disease in humans. The study of multiple populations may aid fine-mapping of associations within extensive regions of strong linkage disequilibrium (‘transethnic mapping’). PMID:19798075

  11. Growth and Reproduction of Glyphosate-Resistant and Susceptible Populations of Kochia scoparia

    Science.gov (United States)

    Kumar, Vipan; Jha, Prashant

    2015-01-01

    Evolution of glyphosate-resistant kochia is a threat to no-till wheat-fallow and glyphosate-resistant (GR) cropping systems of the US Great Plains. The EPSPS (5-enol-pyruvylshikimate-3-phosphate synthase) gene amplification confers glyphosate resistance in the tested Kochia scoparia (L.) Schrad populations from Montana. Experiments were conducted in spring to fall 2014 (run 1) and summer 2014 to spring 2015 (run 2) to investigate the growth and reproductive traits of the GR vs. glyphosate-susceptible (SUS) populations of K. scoparia and to determine the relationship of EPSPS gene amplification with the level of glyphosate resistance. GR K. scoparia inbred lines (CHES01 and JOP01) exhibited 2 to 14 relative copies of the EPSPS gene compared with the SUS inbred line with only one copy. In the absence of glyphosate, no differences in growth and reproductive parameters were evident between the tested GR and SUS inbred lines, across an intraspecific competition gradient (1 to 170 plants m-2). GR K. scoparia plants with 2 to 4 copies of the EPSPS gene survived the field-use rate (870 g ha-1) of glyphosate, but failed to survive the 4,350 g ha-1 rate of glyphosate (five-times the field-use rate). In contrast, GR plants with 5 to 14 EPSPS gene copies survived the 4,350 g ha-1 of glyphosate. The results from this research indicate that GR K. scoparia with 5 or more EPSPS gene copies will most likely persist in field populations, irrespective of glyphosate selection pressure. PMID:26580558

  12. Adaptation of the human population to the environment: Current knowledge, clues from Czech cytogenetic and "omics" biomonitoring studies and possible mechanisms.

    Science.gov (United States)

    Rossnerova, Andrea; Pokorna, Michaela; Svecova, Vlasta; Sram, Radim J; Topinka, Jan; Zölzer, Friedo; Rossner, Pavel

    2017-07-01

    The human population is continually exposed to numerous harmful environmental stressors, causing negative health effects and/or deregulation of biomarker levels. However, studies reporting no or even positive impacts of some stressors on humans are also sometimes published. The main aim of this review is to provide a comprehensive overview of the last decade of Czech biomonitoring research, concerning the effect of various levels of air pollution (benzo[a]pyrene) and radiation (uranium, X-ray examination and natural radon background), on the differently exposed population groups. Because some results obtained from cytogenetic studies were opposite than hypothesized, we have searched for a meaningful interpretation in genomic/epigenetic studies. A detailed analysis of our data supported by the studies of others and current epigenetic knowledge, leads to a hypothesis of the versatile mechanism of adaptation to environmental stressors via DNA methylation settings which may even originate in prenatal development, and help to reduce the resulting DNA damage levels. This hypothesis is fully in agreement with unexpected data from our studies (e.g. lower levels of DNA damage in subjects from highly polluted regions than in controls or in subjects exposed repeatedly to a pollutant than in those without previous exposure), and is also supported by differences in DNA methylation patterns in groups from regions with various levels of pollution. In light of the adaptation hypothesis, the following points may be suggested for future research: (i) the chronic and acute exposure of study subjects should be distinguished; (ii) the exposure history should be mapped including place of residence during the life and prenatal development; (iii) changes of epigenetic markers should be monitored over time. In summary, investigation of human adaptation to the environment, one of the most important processes of survival, is a new challenge for future research in the field of human

  13. Effects of seasonal variation on oxidative stress physiology in natural population of toad Bufo melanostictus; clues for analysis of environmental pollution.

    Science.gov (United States)

    Samanta, Luna; Paital, Biswaranjan

    2016-11-01

    Natural population of Bufo melanostictus in response to environmental cues shows several physiologic changes such as reproductive activity, hibernation, aestivation and metabolic depression in different seasons. We investigated the effects of seasonal fluctuations on oxidative stress (OS) physiology biomarkers, such as endogenous (ELPx) and induced (ILPx) lipid peroxidation, front-line redox regulatory enzymes (superoxide dismutase: SOD and catalase) and two non-enzyme antioxidant metabolites (ascorbic acid and reduced glutathione) in liver, gonad and cerebral hemisphere of toads collected from the Bhubaneswar area of India, where temperature fluctuates considerably rising to the highest in summer (∼46 °C) and being lowest in winter (pollutants alone and/or as results of metabolic changes under hibernation, aestivation and due to reproductive activities. Therefore, seasonal changes in OS physiological responses in poikilothermic models especially in toads must be cautiously used as indicators to assess environmental impact, mainly soil pollution. Results of the present study may be used as baseline data for any future analyses of the physiological impacts of environmental changes using toads as model organism.

  14. Susceptibility and resistance to deltamethrin of wild and domestic populations of Triatoma infestans (Reduviidae: Triatominae in Bolivia: new discoveries

    Directory of Open Access Journals (Sweden)

    Stéphanie Depickère

    2012-12-01

    Full Text Available Bolivia is a high-endemic country for Chagas disease, for which the principal vector is Triatoma infestans (Triatominae. This is a mainly domestic species that is also found in the wild environment. Recently, an increasing number of studies have shown the importance of Triatominae resistance to insecticides, especially in Bolivia. Data regarding the susceptibility/resistance of wild and domestic populations of T. infestans to deltamethrin are presented. For the first time, domestic populations of the department of Santa Cruz were tested, showing low resistance. Although most of the wild populations were found to be susceptible to deltamethrin, three populations from three departments showed a mortality rate of less than 100%. This result is emphasised here.

  15. HapMap-based study of the DNA repair gene ERCC2 and lung cancer susceptibility in a Chinese population

    DEFF Research Database (Denmark)

    Yin, Jiaoyang; Vogel, Ulla Birgitte; Ma, Yegang

    2009-01-01

    (NER) pathway. To elucidate whether common ERCC2 variants are associated with lung cancer susceptibility, we conducted a case–control study consisting of 339 cases with primary lung cancer and 358 controls matched on age, gender and ethnicity in a Chinese population. Six haplotype tagging single...... polymorphisms. Our results provide evidence to support a role for ERCC2 in lung cancer development in a Chinese population....

  16. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics.

    Science.gov (United States)

    Sirugo, Giorgio; Hennig, Branwen J; Adeyemo, Adebowale A; Matimba, Alice; Newport, Melanie J; Ibrahim, Muntaser E; Ryckman, Kelli K; Tacconelli, Alessandra; Mariani-Costantini, Renato; Novelli, Giuseppe; Soodyall, Himla; Rotimi, Charles N; Ramesar, Raj S; Tishkoff, Sarah A; Williams, Scott M

    2008-07-01

    Africa is the ultimate source of modern humans and as such harbors more genetic variation than any other continent. For this reason, studies of the patterns of genetic variation in African populations are crucial to understanding how genes affect phenotypic variation, including disease predisposition. In addition, the patterns of extant genetic variation in Africa are important for understanding how genetic variation affects infectious diseases that are a major problem in Africa, such as malaria, tuberculosis, schistosomiasis, and HIV/AIDS. Therefore, elucidating the role that genetic susceptibility to infectious diseases plays is critical to improving the health of people in Africa. It is also of note that recent and ongoing social and cultural changes in sub-Saharan Africa have increased the prevalence of non-communicable diseases that will also require genetic analyses to improve disease prevention and treatment. In this review we give special attention to many of the past and ongoing studies, emphasizing those in Sub-Saharan Africans that address the role of genetic variation in human disease.

  17. Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population.

    Science.gov (United States)

    Zheng, Ping; Li, Erzhen; Wang, Jianhua; Cui, Xiaodai; Wang, Liwen

    2013-01-29

    Tryptophan hydroxylase-2 (TPH2) is a potential candidate gene for screening tic disorder (TD). A case-control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs) of the TPH2 gene in 149 TD children and in 125 normal controls. For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR) =3.077, 95% confidence interval (CI): 1.273-7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153-9.040; P = 0.020). The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS) than those in controls among the male children (OR = 1.684, 95%: 1.097-2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139-9.513; P = 0.022). We also found that genotype distributions of both SNPs were different between the Asian and European populations. Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD),these findings need to be confirmed by studies in much larger samples.

  18. Association of LMP/TAP gene polymorphisms with tuberculosis susceptibility in Li population in China.

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    Danmei Wang

    Full Text Available BACKGROUND: Tuberculosis (TB is a contagious disease affected by multiple genetic and environmental factors. Several association studies have suggested that cellular immune response is vital for controlling and preventing of tuberculosis infection. Low molecular weight polypeptides (LMPs and transporters with antigen processing (TAPs are the main molecules in the processing and presentation pathway for intracellular antigens. This study was performed to elucidate whether these antigen-processing genes (LMP/TAP polymorphisms could be associated with the risk of tuberculosis infection in China. METHODOLOGY/PRINCIPAL FINDINGS: We recruited 205 active pulmonary tuberculosis patients and 217 normal controls from Li population for this study. Four polymorphisms of LMP/TAP genes were determined by PCR-RFLP assay and haplotypes were constructed by software PHASE 1.0. Of the total four polymorphisms, genotype frequencies of LMP7 AA homozygote and CA heterozygote were significantly greater among cases compared to controls, with odds ratio of 3.77 (95% CI: 1.60-8.89; P = 0.002 and 2.97 (95% CI: 1.80-4.90; P<0.0001, respectively. The genotypes of TAP1-2 GG homozygote and AG heterozygote were more frequent in subjects with TB than in controls, with odds ratio of 3.94 (95% CI: 1.82-8.53; P = 0.001 and 2.87 (95% CI: 1.75-4.71; P<0.0001, respectively. Similarly, we found that haplotype B which carried LMP7 and TAP1-2 variations significantly increased the susceptibility to TB (OR = 3.674, 95% CI: 2.254-5.988; P<0.0001. Moreover, it is noteworthy that the homozygote of wild haplotype A (A/A may be a strong protection for TB infection. CONCLUSIONS: Our findings suggested that LMP/TAP gene polymorphisms might be risk factors for TB infection among Li population in China.

  19. Susceptibility of Different Populations of Nilaparvata lugens from Major Rice Growing Areas of Karnataka, India to Different Groups of Insecticides

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    Y.S. BASANTH

    2013-09-01

    Full Text Available Susceptibility to insecticides was investigated by collecting field populations of brown planthopper from different locations of southern Karnataka, India (Gangavati, Kathalagere, Kollegala, Soraba and Mandya. All the field populations differed in their susceptibility to insecticides. In general, Soraba and Mandya populations were more susceptible to insecticides compared to Gangavati and Kathalagere populations. The resistance ratios varied greatly among the populations viz., chlorpyriphos (1.13- to 16.82-fold, imidacloprid (0.53- to 13.50-fold, acephate (1.34- to 5.32-fold, fipronil (1.13- to 4.06-fold, thiamethoxam (1.01- to 2.19-fold, clothianidin (1.92- to 4.86-fold, dinotefuran (0.82- to 2.22-fold, buprofezin (1.06- to 5.43-fold and carbofuran (0.41- to 2.17-fold. The populations from Gangavati, Kathalagere and Kollegala exhibited higher resistance to some of the old insecticides and low resistance to new molecules.

  20. Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications

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    Dadon Sarah

    2008-04-01

    Full Text Available Abstract Background Recent genome-wide association studies searching for candidate susceptibility loci for common complex diseases such as type 2 diabetes mellitus (T2DM and its common complications have uncovered novel disease-associated genes. Nevertheless these large-scale population screens often overlook the tremendous variation in the mitochondrial genome (mtDNA and its involvement in complex disorders. Results We have analyzed the mitochondrial DNA (mtDNA genetic variability in Ashkenazi (Ash, Sephardic (Seph and North African (NAF Jewish populations (total n = 1179. Our analysis showed significant differences (p Conclusion Our findings support the possibility that recent bottleneck events leading to over-representation of minor mtDNA alleles in specific genetic isolates, could result in population-specific susceptibility loci to complex disorders.

  1. Analysis of HLA-DP association with beryllium disease susceptibility in pooled exposed populations

    Energy Technology Data Exchange (ETDEWEB)

    Cesare Saltini, Massimo Amicosante

    2009-12-19

    Berylliosis or Chronic Beryllium Disease is a chronic granulomatous disorder primarily involving the lung associated with the exposition to low doses of Beryllium (Be) in the workplace. Berylliosis risk has been associated with the presence of a glutamate at position 69 of the HLA-DP beta chain (HLA-DPbetaGlu69) that is expressed in about 97% of disease cases and in 27% of the unaffected Be-exposed controls (p<0.0001) (Richeldi et al. Science 1993; 262: 242-244.12). Since this first observation of an immunogenetic association between berylliosis and HLA-DPbetaGlu69 a number of studies have confirmed the role of this marker as the primary gene of susceptibility of berylliosis (Richeldi et al Am J Ind Med. 1997; 32:337-40; Wang et al J. Immunol. 1999; 163: 1647-53; Saltini et al Eur Respir J. 2001 18:677-84; Rossman et al Am J Respir Crit Care Med. 2002 165:788-94). Moreover, a structure/function interaction between HLA-DP molecules carrying Glu69 and beryllium in driving and developing the immune response against beryllium itself has been observed as: (1) Be-specific T-cells clones obtained from berylliosis patients recognize beryllium as antigen only when presented in the context of the HLA-DP{beta}Glu69 molecules but not in the context of HLA-DP allelic variants carrying Lys69 (Lombardi G et al. J Immunol 2001; 166: 3549-3555), and (2) beryllium presents an affinity for the HLA-DP2, carrying the berylliosis marker of susceptibility HLA-DPGlu69, from 40 to 100 times higher that the HLA-DP molecule carrying Lys69 (Amicosante M. et al Hum. Immunol. 2001; 62: 686-93). However, although the immunogenetic studies performed have been addressed a number of different questions about the genetic association between berylliosis and/or beryllium sensitization, exposure levels to beryllium and HLA markers, a number of questions are still open in the field mainly due to the limitation imposed by the low number of subjects carrying berylliosis or beryllium sensitization enrolled

  2. Sex-specific effects of NLRP6/AVR and ADM loci on susceptibility to essential hypertension in a Sardinian population.

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    Nicola Glorioso

    Full Text Available Coronary artery disease, heart failure, fatal arrhythmias, stroke, and renal disease are the most common causes of mortality for humans, and essential hypertension remains a major risk factor. Elucidation of susceptibility loci for essential hypertension has been difficult because of its complex, multifactorial nature involving genetic, environmental, and sex- and age-dependent nature. We investigated whether the 11p15.5 region syntenic to rat chromosome 1 region containing multiple blood pressure quantitative trait loci (QTL detected in Dahl rat intercrosses harbors polymorphisms that contribute to susceptibility/resistance to essential hypertension in a Sardinian population. Initial testing performed using microsatellite markers spanning 18 Mb of 11p15.5 detected a strong association between D11S1318 (at 2.1 Mb, P = 0.004 and D11S1346 (at 10.6 Mb, P = 0.00000004, suggesting that loci in close proximity to these markers may contribute to susceptibility in our Sardinian cohort. NLR family, pyrin domain containing 6/angiotensin-vasopressin receptor (NLRP6/AVR, and adrenomedullin (ADM are in close proximity to D11S1318 and D11S1346, respectively; thus we tested single nucleotide polymorphisms (SNPs within NLRP6/AVR and ADM for their association with hypertension in our Sardinian cohort. Upon sex stratification, we detected one NLRP6/AVR SNP associated with decreased susceptibility to hypertension in males (rs7948797G, P = 0.029; OR = 0.73 [0.57-0.94]. For ADM, sex-specific analysis showed a significant association between rs4444073C, with increased susceptibility to essential hypertension only in the male population (P = 0.006; OR = 1.44 [1.13-1.84]. Our results revealed an association between NLRP6/AVR and ADM loci with male essential hypertension, suggesting the existence of sex-specific NLRP6/AVR and ADM variants affecting male susceptibility to essential hypertension.

  3. Functional short tandem repeat polymorphism of PTPN11 and susceptibility to hepatocellular carcinoma in Chinese populations.

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    Xiankun Zhao

    Full Text Available BACKGROUND: PTPN11, which encodes tyrosine phosphatase Shp2, is a critical gene mediating cellular responses to hormones and cytokines. Loss of Shp2 promotes hepatocellular carcinoma (HCC, suggesting that PTPN11 functions as a tumor suppressor in HCC tumorgenesis. The aim of this study was to evaluate the effects of the short tandem repeat (STR polymorphism (rs199618935 within 3'UTR of PTPN11 on HCC susceptibility in Chinese populations. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed the associations in 400 patients from Jiangsu province of China, validating the findings in an additional 305 patients from Shanghai of China. Unconditional logistic regression was used to analyze the association between rs199618935 and HCC risk. Additional biochemical investigations and in-silico studies were used to evaluate the possible functional significance of this polymorphism. Logistic regression analysis showed that compared with individuals carrying shorter alleles (11 and 12 repeats, those subjects who carry longer alleles (13 and 14 repeats had a significantly decreased risk of HCC [adjusted odds ratio (OR = 0.63, 95% confidence interval (CI  = 0.53-0.76, P = 2.00 × 10(-7], with the risk decreased even further in those carrying allele 15 and 16 (adjusted OR = 0.46, 95% CI = 0.34-0.62, P = 1.00 × 10(-7. Biochemical investigations showed that longer alleles of rs199618935 conferred higher PTPN11 expression in vivo and in vitro. The altered luciferase activities in reporter gene system suggested that STR regulation of PTPN11 expression could be a transcriptional event. Finally, in-silico prediction revealed that different alleles of rs199618935 could alter the local structure of PTPN11 mRNA. CONCLUSIONS/SIGNIFICANCE: Taken together, our findings suggested that the STR polymorphism within PTPN11 contributes to hepatocarcinogenesis, possibly by affecting PTPN11 expression through a structure-dependent mechanism. The replication of our studies and further

  4. Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population

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    Zheng Ping

    2013-01-01

    Full Text Available Abstract Background Tryptophan hydroxylase-2 (TPH2 is a potential candidate gene for screening tic disorder (TD. Methods A case–control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs of the TPH2 gene in 149 TD children and in 125 normal controls. Results For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR =3.077, 95% confidence interval (CI: 1.273–7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153–9.040; P = 0.020. The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS than those in controls among the male children (OR = 1.684, 95%: 1.097–2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139–9.513; P = 0.022. We also found that genotype distributions of both SNPs were different between the Asian and European populations. Conclusions Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD,these findings need to be confirmed by studies in much larger samples.

  5. Advances in the genome-wide association study of chronic hepatitis B susceptibility in Asian population.

    Science.gov (United States)

    Qiu, Bing; Jiang, Wei; Olyaee, Mojtaba; Shimura, Kenji; Miyakawa, Akihiro; Hu, Huijing; Zhu, Yongcui; Tang, Lixin

    2017-12-28

    Chronic hepatitis B (CHB) is the most common chronic liver disease resulting from viral infection and has become a serious threat to human health. Each year, about 1.2 million people in the world die from diseases caused by chronic infection of hepatitis B virus. The genetic polymorphism is significantly associated with the susceptibility to chronic hepatitis B. Genome-wide association study was recently developed and has become an important tool to detect susceptibility genes of CHB. To date, a number of CHB-associated susceptibility loci and regions have been identified by scientists over the world. To clearly understand the role of susceptibility loci in the occurrence of CHB is important for the early diagnosis and prevention of CHB.

  6. Lack of Replication of Seven Pancreatic Cancer Susceptibility Loci Identified in Two Asian Populations

    Czech Academy of Sciences Publication Activity Database

    Campa, D.; Rizzato, C.; Bauer, A. S.; Werner, J.; Capurso, G.; Costello, E.; Talar-Wojnarowska, R.; Jamroziak, K.; Pezzilli, R.; Gazouli, M.; Khaw, K. T.; Key, T. J.; Bambi, F.; Mohelníková-Duchoňová, B.; Heller, A.; Landi, S.; Vodičková, Ludmila; Theodoropoulos, G.; Burget, P.; Vodička, Pavel; Hoheisel, J. D.; Delle Fave, G.; Neoptolemos, J. P.; Souček, P.; Buechler, M. W.; Giese, N.; Canzian, F.

    2013-01-01

    Roč. 22, č. 2 (2013), s. 320-323 ISSN 1055-9965 Institutional support: RVO:68378041 Keywords : cancer growth * cancer risk * cancer susceptibility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.324, year: 2013

  7. Changes in bacillus thuringiensis tolerance levels due to hybridization of Bt-tolerant and susceptible silkworm populations

    International Nuclear Information System (INIS)

    Begumad, H.A.; Hassana, E.; Dingleb, J.; Alshehic, A.A.

    2012-01-01

    Males and females of a Bt-tolerant mulberry silkworm (Bombyx mori L.) population were crossed with females and males of a Bt-susceptible population, to produce Bt-tolerant silkworm hybrids, and to determine the expression of the Bt-tolerance pattern in the F 1 hybrids. It was observed that when a Bt-tolerant (42% larval mortality) female (BtT ) silkworm was crossed with a Bt-susceptible (85% larval mortality) male (BtS ), the resultant F 1 offspring showed lower levels of Bt-tolerance (87% larval mortality). On the other hand, when a Bt-tolerant male (BtT ) was crossed with a Bt-susceptible female (BtS ), the F 1 hybrid showed higher levels of Bt-tolerance (35% larval mortality) characteristic. The probit statistics showed that both hybrids expressed Bt-tolerance or susceptible levels similar to their male parents. These different patterns of Bt-tolerance in F 1 hybrids might be due to the transferring of a Bt-tolerant gene, from the parents to offspring, through the homozygotic male (ZZ) silkworm. (author)

  8. HLA class II alleles influence rheumatoid arthritis susceptibility and autoantibody status in South Indian Tamil population.

    Science.gov (United States)

    Mariaselvam, C M; Fortier, C; Charron, D; Krishnamoorthy, R; Tamouza, R; Negi, V S

    2016-11-01

    Rheumatoid arthritis (RA) is a complex multifactorial autoimmune disease characterized by inflammatory arthritis. The precise etiology and pathogenesis of RA remains elusive but evidence points towards stochastic interactions between genetic and environmental factors. This study investigated the distribution of human leucocyte antigen (HLA)-DRB1/DQB1 alleles in South Indian patients with rheumatoid arthritis (RA) and their influence on RA susceptibility and clinical phenotype. Low resolution HLA-DRB1 and -DQB1 typing was performed in 271 RA patients and 233 healthy controls by polymerase chain reaction (PCR) using sequence-specific primers (SSP). HLA-DRB1*10 was found to be more frequent in patients (P c = 0.004, OR = 2.23, 95% CI = 1.5-3.34) than controls. This difference persisted in RF positive (P c = 9 × 10 -6 , OR = 2.45, 95% CI = 1.62-3.74), ACPA positive (P c = 0.007, OR = 2.10, 95% CI = 1.35-3.29), ACPA negative (P c = 0.001, OR = 2.45, 95% CI = 1.50-3.97) and both RF and ACPA positive subgroup of patients (P c = 0.003, OR = 2.22, 95% CI = 1.41-3.51). On the contrary, the HLA-DRB1*13 (P c = 0.01, OR = 0.43, 95% CI = 0.25-0.73) and HLA-DRB1*14 (P c = 0.003, OR = 0.43, 95% CI = 0.26-0.69) alleles were over-represented in controls than patients. Further, distribution of the prominent Caucasian RA risk allele DRB1*04 did not differ between patients and controls in our study population. We did not find any association between DQB1 alleles and RA susceptibility or autoantibody status. The haplotypes DQB1*05-DRB1*10 (P = 6.8 × 10 -6 , OR = 2.46, 95% CI = 1.63-3.79) and DQB1*06-DRB1*15 (P = 0.03, OR = 1.41, 95% CI = 1.02-1.96) were more frequent in patients while DQB1*05-DRB1*14 (P = 8.4 × 10 -4 , OR = 0.44, 95% CI = 0.26-0.74) and DQB1*06-DRB1*13 (P = 9.5 × 10 -4 , OR = 0.40, 95% CI = 0.21-0.72) were higher in controls. To conclude, HLA-DRB1*10 is associated with RA while HLA-DRB1*13 and HLA-DRB1*14 alleles confer protection in south Indian Tamils. © 2016

  9. Association of TCF7L2 gene polymorphisms with susceptibility to type 2 diabetes mellitus in a Chinese Hui population.

    Science.gov (United States)

    Yang, Y; Xu, J R; Wang, Y J; Liu, X M

    2015-08-21

    Diabetes is one of costly chronic diseases. Previous studies across several ethnicities have shown that polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene were strongly associated with susceptibility to type 2 diabetes (T2DM). In the present study, the association between the TCF7L2 gene and the susceptibility to T2DM in a Chinese Hui population was interrogated. Polymerase chain reaction (PCR)- restriction fragment length polymorphism analysis and allelic specific PCR were employed for examining the TCF7L2 gene rs12255372 (G>T) and rs290487 (C>T), and rs7901695 (T>C) polymorphisms, respectively, in 109 healthy individuals and 111 subjects with T2DM who were of Chinese Hui descent and lived in the Ningxia Hui Autonomous Region of China. The results showed that the genotypic frequency of rs290487 and the allelic frequency distributions of the rs7901695 and rs290487 loci were not significantly different between patients and controls in this population. However, both the genotypic and the allelic frequencies at rs12255372 exhibited statistical differences between the patients with T2DM and the unaffected cohort (P T) polymorphism might be one of the most important genetic factors associated with T2DM susceptibility, and that individuals in the Chinese Hui population who carry a G allele at this locus might be at risk to develop T2DM.

  10. Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

    Science.gov (United States)

    Jara, Lilian; Morales, Sebastian; de Mayo, Tomas; Gonzalez-Hormazabal, Patricio; Carrasco, Valentina; Godoy, Raul

    2017-10-06

    Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.

  11. Comparative organophosphorus insecticide susceptibility in Caribbean populations of Aedes aegypti and Toxorhynchites moctezuma.

    Science.gov (United States)

    Rawlins, S C; Ragoonansingh, R

    1990-06-01

    Aedes aegypti larvae from Antigua, Jamaica, Puerto Rico, St. Lucia, Trinidad and Union Island and predatory larvae, Toxorhynchites moctezuma, from Trinidad were tested for susceptibility to temephos, malathion, fenthion, fenitrothion and chlorpyrifos. There was some organophosphorus resistance in all strains of Ae. aegypti, in the approximate order: Antigua greater than Jamaica greater than Puerto Rico greater than St. Lucia greater than Trinidad greater than Union Island. Toxorhynchites moctezuma was much less susceptible to temephos than the Ae. aegypti strain, indicating its possible usefulness in an integrated management program.

  12. Association of HLA-DQA1 (rs9272219) with susceptibility to rheumatoid arthritis in a Han Chinese population.

    Science.gov (United States)

    Hao, Gui-Feng; Li, Ya-Song; Liu, Jin-Lin; Wo, Ming-Yi

    2014-01-01

    HLA-DQA1 (rs9272219) has been previously reported that it is a susceptibility locus in rheumatoid arthritis (RA) of UK Caucasian population and North American; however, it has not reported in RA of Chinese population. Our study was to identify whether or not this relationship is reside between rs9272219 and RA in a Han Chinese population. 207 patients with RA and 199 control subjects were recruited. The single nucleotide polymorphism (SNP) of rs9272219 was tested in alleles and genotype frequencies and the data was analyzed by doing the statistic analysis of odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses after pairwise linkage disequilibrium (LD) was estimated. Finally, the Alleles and genotype frequencies distribution of rs9272219 locus among RA patients and control subjects were in accordance with Hardy-Weinberg equilibrium. We found significant association between rs9272219 and RA of Chinese population (OR 0.494, 95% confidence interval [95% CI] 0.354-0.688, P = 0 and OR 2.541, 95% CI 1.695-3.808, P = 0, respectively). In this study, we found that the SNP of rs9272219 in HLA-DQA1 is a potential susceptibility locus in RA of Han Chinese population; the results suggest that HLA-DQA1 may be related to the development of RA.

  13. Fluoroquinolone Resistance Mechanisms and population structure of Enterobacter cloacae non-susceptible to Ertapenem in North-Eastern France.

    Directory of Open Access Journals (Sweden)

    Thomas eGuillard

    2015-10-01

    Full Text Available Fluoroquinolone (FQ agents are a potential resort to treat infection due to Enterobacteriaceae producing extended spectrum β-lactamase and susceptible to FQ. In a context of increase of non-susceptibility to carbapenems among Enterobacteriaceae, we characterized FQ resistance mechanisms in 75 Enterobacter cloacae isolates non-susceptible to ertapenem in North-Eastern France in 2012 and describe the population structure by pulsed field gel electrophoresis (PFGE and multilocus sequence typing (MLST.Among them, 14.7% (12/75 carried a carbapenemase-encoding gene. Except one isolate producing VIM-1, the carbapenemase-producing isolates carried the well-known IncL/M pOXA48a plasmid. Most of the isolates (59/75 harbored at least a FQ-R determinant. qnr genes were predominant (40%, 30/75. The MLST study revealed that E. cloacae isolates’ clonality was wide (24 different STs. The more widespread STs were ST74, ST101, ST110, ST114 and ST133. Carbapenem MICs were higher for E. cloacae ST74 than for other E. cloacae isolates. PMQR determinants were more often observed in E. cloacae ST74 isolates. These findings showed that (i pOXA-48a is spreading in North-Eastern France, (ii qnr is preponderant in E. cloacae, (iii E. cloacae comprised a large amount of lineages spreading in North-Eastern France and (iv FQ as an alternative to β-lactams to treat ertapenem non-susceptible Enterobacteriaceae are compromised.

  14. Genetic variation in susceptibility to fusiform rust in seedlings from a wild population of loblolly pine

    Science.gov (United States)

    Bohun B. Kinloch Jr.; Roy W. Stonecypher

    1969-01-01

    Striking genetic variation in susceptibility to fusiform rust was observed among SS controlled-pollinated (CP) and 48 wind-pollinated (WP) families from parent trees of loblolly pine selected at random in a natural forest stand in southwest Georgia. The mating design permitted statistical tests for estimating both additive and total genetic variance. WP families were...

  15. Evaluation of two putative susceptibility loci for oral clefts in the Danish population

    DEFF Research Database (Denmark)

    Mitchell, L E; Murray, J C; O'Brien, S

    2001-01-01

    . The present study evaluated potential associations between CL+/-P and CP and two putative clefting susceptibility loci, MSX1 and TGFB3, using data from a nationwide case-control study conducted in Denmark from 1991 to 1994. The potential effects of interactions between these genes and two common environmental...

  16. Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population

    Directory of Open Access Journals (Sweden)

    Figueredo M Ángeles

    2007-08-01

    Full Text Available Abstract Background The protein tyrosine phosphatase N22 gene (PTPN22 encodes a lymphoid-specific phosphatase (LYP which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with type 1 diabetes (T1D in different Caucasian populations. In this study, we aimed at confirming the role of this variant in T1D predisposition in the Spanish population. Methods A case-control was performed with 316 Spanish white T1D patients consecutively recruited and 554 healthy controls, all of them from the Madrid area. The PTPN22 C1858T SNP was genotyped in both patients and controls using a TaqMan Assay in a 7900 HT Fast Real-Time PCR System. Results We replicated for the first time in a Spanish population the association of the 1858T allele with an increased risk for developing T1D [carriers of allele T vs. CC: OR (95% = 1.73 (1.17–2.54; p = 0.004]. Furthermore, this allele showed a significant association in female patients with diabetes onset before age 16 years [carriers of allele T vs. CC: OR (95% = 2.95 (1.45–6.01, female patients vs female controls p = 0.0009]. No other association in specific subgroups stratified for gender, HLA susceptibility or age at onset were observed. Conclusion Our results provide evidence that the PTPN22 1858T allele is a T1D susceptibility factor also in the Spanish population and it might play a different role in susceptibility to T1D according to gender in early-onset T1D patients.

  17. Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

    NARCIS (Netherlands)

    Einarsdottir, Elisabet; Bevova, Marianna R.; Zhernakova, Alexandra; Monsuur, Alienke; Koskinen, Lotta L. E.; van't Slot, Ruben; Mulder, Chris; Mearin, M. Luisa; Korponay-Szabo, Ilma R.; Kaukinen, Katri; Kurppa, Kalle; Kere, Juha; Maki, Markku; Wijmenga, Cisca; Saavalainen, Paivi

    Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility

  18. Lack of association between rs1800795 (-174 G/C polymorphism in the promoter region of interleukin-6 gene and susceptibility to type 2 diabetes in Isfahan population

    Directory of Open Access Journals (Sweden)

    Reza Ghavimi

    2016-01-01

    Conclusion: These results indicated that the rs1800795 SNP is not a susceptibility gene variant for the development of T2DM in the Isfahan population. Further studies using new data on complex transcriptional interactions between IL-6 polymorphic sites are necessary to determine IL-6 haplotype influence on susceptibility to T2DM.

  19. Permethrin resistance variation and susceptible reference line isolation in a field population of the mosquito, Culex quinquefasciatus (Diptera: Culicidae).

    Science.gov (United States)

    Yang, Ting; Liu, Nannan

    2014-10-01

    This study examines the genetic variations and mechanisms involved in the development of permethrin resistance in individual mosquitoes from a field population of Culex quinquefasciatus, HAmCq(G0) , and characterizes susceptible reference lines of mosquitoes with a similar genetic background to the field HAmCq(G0) strain. Six upregulated cytochrome P450 genes, CYP9M10, CYP9J34, CYP6P14, CYP9J40, CYP6AA7, and CYP4C52v1, previously identified as being upregulated in the larvae of resistant HAmCq(G8) mosquitoes were examined in the larvae of 3 strains (susceptible S-Lab, parental HAmCq(G0) and permethrin-selected highly resistant HAmCq(G8) ) and 8 HAmCq(G0) single-egg raft colonies, covering a range of levels of susceptibility/resistance to permethrin and exhibiting different variations in the expression of A and/or T alleles at the L-to-F kdr locus of the sodium channel. The 2 lines with the lowest tolerance to permethrin and bearing solely the susceptible A allele at the L-to-F kdr locus of the sodium channels, from colonies Cx_SERC5 and Cx_SERC8, showed lower or similar levels of all 6 of the P450 genes tested compared with the S-Lab strain, suggesting that these 2 lines could be used as the reference mosquitoes in future studies characterizing insecticide resistance in HAmCq mosquitoes. This study also provides a detailed investigation of the mechanisms involved in insecticide resistance in individuals within a population: individuals with elevated levels of resistance to permethrin all displayed one or more potential resistance mechanisms-either elevated levels of P450 gene expression, or L-to-F mutations in the sodium channel, or both. © 2013 Institute of Zoology, Chinese Academy of Sciences.

  20. Prevalence rate and antibiotic susceptibility of oral viridans group streptococci (VGS) in healthy children population.

    Science.gov (United States)

    Rozkiewicz, D; Daniluk, T; Sciepuk, M; Zaremba, M L; Cylwik-Rokicka, D; Luczaj-Cepowicz, E; Milewska, R; Marczuk-Kolada, G; Stokowska, W

    2006-01-01

    The aim of this study was to evaluated the prevalence rate of oral viridans group streptococci (VGS) and their susceptibilities to some antibiotics in healthy children. Samples of pharyngeal swabs and supragingival dental plaques for microbiological studies were collected from 206 healthy children, aged 4-18 years. Additionally, 75 samples of carious lesions from children with dental caries were included. The streptococci were isolated and identified using standard methods and commercial identification kits. For performance of antibacterial susceptibility testing of VGS strains disk diffusion and/or breakpoints procedures were used according to NCCLS standards and criteria. A total of 425 VGS strains were tested against penicillin, ampicillin, erythromycin, clindamycin, tetracycline, doxycycline, ciprofloxacin and vancomycin. A total of 239 VGS strains belonging to 8 species from pharyngeal swabs of 192 (93.2%) children were isolated. VGS strains from supragingival plaques were isolated in 149 (72.3%) healthy children (p mitis species were isolated most frequently from 4-5 year old as compared to 12 and 18 year old children (p or = 2.0 mg/L) was shown in 71 (16.7%) strains, 33 (46.5%) of them belonged to S. mitis species. VGS strains were also resistant to erythromycin (23.5%), clindamycin (23.1%), tetracyclines (T-52%, DOX-16%), gentamycin (25.9%) and ciprofloxacin (55.2%). All VGS strains were vancomycin - susceptible. 1. In the oral cavities of healthy children, approximately 98% of streptococci belonged to two VGS groups, i.e. mitis and salivarius groups. Streptococci of mutans and anginosus groups were isolated sporadically (2%). 2. We observed difference in susceptibility to penicillin and other antibiotics between the various species of viridans groups streptococci. Mitis group strains (except S. pneumoniae) were more frequently penicillin-resistant (23%) in comparison to salivarius group of VGS strains (9%) (p = 0.0001).

  1. Identifying predictors of activity based anorexia susceptibility in diverse genetic rodent populations.

    Directory of Open Access Journals (Sweden)

    Eneda Pjetri

    Full Text Available Animal studies are very useful in detection of early disease indicators and in unravelling the pathophysiological processes underlying core psychiatric disorder phenotypes. Early indicators are critical for preventive and efficient treatment of progressive psychiatric disorders like anorexia nervosa. Comparable to physical hyperactivity observed in anorexia nervosa patients, in the activity-based anorexia rodent model, mice and rats express paradoxical high voluntary wheel running activity levels when food restricted. Eleven inbred mouse strains and outbred Wistar WU rats were exposed to the activity-based anorexia model in search of identifying susceptibility predictors. Body weight, food intake and wheel running activity levels of each individual mouse and rat were measured. Mouse strains and rats with high wheel running activity levels during food restriction exhibited accelerated body weight loss. Linear mixed models for repeated measures analysis showed that baseline wheel running activity levels preceding the scheduled food restriction phase strongly predicted activity-based anorexia susceptibility (mice: Beta  =  -0.0158 (±0.003 SE, P<0.0001; rats: Beta  =  -0.0242 (±0.004 SE, P<0.0001 compared to other baseline parameters. These results suggest that physical activity levels play an important role in activity-based anorexia susceptibility in different rodent species with genetically diverse background. These findings support previous retrospective studies on physical activity levels in anorexia nervosa patients and indicate that pre-morbid physical activity levels could reflect an early indicator for disease severity.

  2. Excretion/defecation patterns in Triatoma infestans populations that are, respectively, susceptible and resistant to deltamethrin.

    Science.gov (United States)

    Lobbia, P; Calcagno, J; Mougabure-Cueto, G

    2018-02-12

    Pyrethroid resistance has been detected in Triatoma infestans (Klug) (Hemiptera: Reduviidae) specimens from different areas of Argentina and Bolivia. Genes conferring resistance can have a pleiotropic effect with epidemiological and evolutionary consequences. This research studied excretion/defecation patterns in deltamethrin-resistant T. infestans in order to elucidate its biological performance, adaptive consequences and role in the transmission of Chagas' disease. One deltamethrin-susceptible strain and two deltamethrin-resistant strains were used. Fifth-instar nymphs were fed ad libitum and their defecations recorded during and after the first or second feeding in the stadium. Resistant insects began to defecate later, defecated less, showed a lower proportion of defecating individuals and lower defecation indices compared with susceptible insects during the first hour after feeding. The number of bloodmeals in the stadium did not affect the main variables determining the pattern of defecation. The present study suggests that alterations in the excretion/defecation pattern in resistant insects entail an adaptive cost and, considering only this pattern, determine a lower capacity for transmission of Trypanosoma cruzi (Kinetoplastida: Trypanosomatidae) compared with susceptible insects. © 2018 The Royal Entomological Society.

  3. The Association between NOS3 Gene Polymorphisms and Hypoxic-Ischemic Encephalopathy Susceptibility and Symptoms in Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Yongqin Wu

    2016-01-01

    Full Text Available Endothelial NOS (NOS3 has a potential role in the prevention of neuronal injury in hypoxic-ischemic encephalopathy (HIE. Thus, we aimed to explore the association between NOS3 gene polymorphisms and HIE susceptibility and symptoms in a Chinese Han population. Three single nucleotide polymorphisms (SNPs in the NOS3 gene, rs1800783, rs1800779, and rs2070744, were detected in 226 children with HIE and 212 healthy children in a Chinese Han population. Apgar scores and magnetic resonance image scans were used to estimate the symptoms and brain damage. The association analyses were conducted by using SNPStats and SPSS 18.0 software. The genotype and allele distributions of rs1800779 and rs1799983 displayed no significant differences between the patients and the controls, while the rs2070744 allele distribution was significantly different (corrected P=0.009. For clinical characteristics, the rs2070744 genotype distribution was significantly different in patients with different Apgar scores (≤5, TT/TC/CC = 6/7/5; 6~7, TT/TC/CC = 17/0/0; 8~9, TT/TC/CC = 6/2/0; 10, TT/TC/CC = 7/1/0; corrected P=0.006 in the 1001 to 1449 g birth weight subgroup. The haplotype test did not show any associations with the risk and clinical characteristics of HIE. The results suggest that NOS3 gene SNP rs2070744 was significantly associated with HIE susceptibility and symptom expression in Chinese Han population.

  4. Relationship between HTRA1 polymorphism and genetic susceptibility of wet age-related macular degeneration in Han population

    Directory of Open Access Journals (Sweden)

    Nan Yang

    2018-05-01

    Full Text Available AIM: To investigate the relationship between high temperature essential factor A-1(HTRA1polymorphism and genetic susceptibility of wet age-related macular degeneration(AMDin Han population. METHODS: Totally 201 patients of wet AMD in Han population were selected from May 2014 to January 2017 in our hospital as disease group, and 201 healthy persons of Han were selected as health group. Blood samples of peripheral vein were collected and genomic DNA was extracted. HTRA1 polymorphism loci were detected, and the rs11200638 and rs2248799 loci of HTRA1 gene were detected by Sequenom mass spectrometry platform. Then the relationship between HTRA1 polymorphism and genetic susceptibility of wet AMD were analyzed. RESULTS: The grade distributions of the genotype of the rs11200638 and rs2248799 loci in the two groups subjects had significant differences(PPPOR values of rs11200638 genotype AA and AG were respectively 5.36 and 3.45, which were the risk factors of wet AMD(POR values of rs2248799 genotype TT and TC were respectively 2.36 and 1.98, which were the risk factors of wet AMD(PCONCLUSION: The rs11200638 and rs2248799 polymorphisms of HTRA1 gene are associated with the incidence of wet AMD, and the genotype AA and TT are closely related to the risk of wet AMD in Han population, of which the higher frequencies can increase the risk of wet AMD.

  5. Prevalence of CYP1A1 and GST polymorphisms in the population of northeastern India and susceptibility of oral cancer.

    Science.gov (United States)

    Chatterjee, Sumana; Chakrabarti, Sila; Sengupta, Bani; Poddar, Sandeep; Biswas, Debolina; Sengupta, Sarthak; Talukder, Geeta

    2009-01-01

    Individual cancer susceptibility is the result of several host factors, including differences in lifestyle habits and genetic susceptibility. There is a correlation between CYP1A1 polymorphism (MspI) and oral cancer susceptibility. Individuals carrying the deletions of GSTM1 and GSTT1 are at high risk of developing oral cancers. In the present study on healthy tribal and nontribal individuals of Assam, we found that the genetic variation of GSST polymorphisms is evident (p = 0.20) with differential dose of toxic exposure. Prevalence of different polymorphic alleles of CYP1A1 also proves the same result. A mini-case-control study with very small sample size showed no marked increase in the risk of developing oral cancer as the frequencies of the studied GST genotypes did not show any statistical significance. But GSTT1-null genotypes were found to have higher risk of developing leukoplakia (OR 1.94, 95% CI 2.61-18.54). CYP1A1 genotype m2 allele was also not found to be associated with the risk of developing leukoplakias in the population.

  6. Association between XPG polymorphisms and stomach cancer susceptibility in a Chinese population.

    Science.gov (United States)

    Chen, Yun-Zhi; Guo, Fang; Sun, Hong-Wei; Kong, Hong-Ru; Dai, Sheng-Jie; Huang, Shi-Hao; Zhu, Wen-Wei; Yang, Wen-Jun; Zhou, Meng-Tao

    2016-05-01

    Xeroderma pigmentosum group G (XPG) protein plays an important role in the DNA repair process by cutting the damaged DNA at the 3' terminus. Previous studies have indicated some polymorphisms in the XPG gene are associated with stomach cancer susceptibility. We performed this hospital-based case-control study to evaluate the association of four potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C and rs873601G>A) with stomach cancer susceptibility. The four single nucleotide polymorphisms (SNPs) were genotyped in 692 stomach cancer cases and 771 healthy controls. Logistic regression analysis was conducted, and odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association of interest. Of the studied SNPs, XPG rs873601G>A polymorphism was found to significantly associate with stomach cancer susceptibility (AA versus OR = 1.31, 95% CI = 1.03-1.66, P = 0.027). Combined analysis of all SNPs revealed that the individuals with two of risk genotypes had a significantly increased stomach cancer risk (OR = 1.52, 95% CI = 1.13-2.06). In the stratification analysis, the association between the rs873601AA genotype and stomach cancer risk was observed in older group (>59 year), as well as patients with non-cardia stomach cancer. Further combined analysis indicated men, smokers, or non-drinkers more than one risk genotypes had a significantly increased stomach cancer risk. Our results indicate that XPG rs873601G>A polymorphism may be associated with the risk of stomach cancer. Further prospective studies with different ethnicities and large sample sizes are needed to validate our findings. © 2016 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

  7. Field-based landslide susceptibility assessment in a data-scarce environment: the populated areas of the Rwenzori Mountains

    Science.gov (United States)

    Jacobs, Liesbet; Dewitte, Olivier; Poesen, Jean; Sekajugo, John; Nobile, Adriano; Rossi, Mauro; Thiery, Wim; Kervyn, Matthieu

    2018-01-01

    landslides such as tangent curvature and total rainfall. Finally, the landslide susceptibility assessment is overlaid with a population density map in order to identify potential landslide risk hotspots, which could direct research and policy action towards reduced landslide risk in this under-researched, landslide-prone region.

  8. Field-based landslide susceptibility assessment in a data-scarce environment: the populated areas of the Rwenzori Mountains

    Directory of Open Access Journals (Sweden)

    L. Jacobs

    2018-01-01

    occurrence of shallow landslides such as tangent curvature and total rainfall. Finally, the landslide susceptibility assessment is overlaid with a population density map in order to identify potential landslide risk hotspots, which could direct research and policy action towards reduced landslide risk in this under-researched, landslide-prone region.

  9. Pandemic influenza A/H1N1pdm in Italy: age, risk and population susceptibility.

    Directory of Open Access Journals (Sweden)

    Stefano Merler

    Full Text Available BACKGROUND: A common pattern emerging from several studies evaluating the impact of the 2009 A/H1N1 pandemic influenza (A/H1N1pdm conducted in countries worldwide is the low attack rate observed in elderly compared to that observed in children and young adults. The biological or social mechanisms responsible for the observed age-specific risk of infection are still to be deeply investigated. METHODS: The level of immunity against the A/H1N1pdm in pre and post pandemic sera was determined using left over sera taken for diagnostic purposes or routine ascertainment obtained from clinical laboratories. The antibody titres were measured by the haemagglutination inhibition (HI assay. To investigate whether certain age groups had higher risk of infection the presence of protective antibody (≥1∶40, was calculated using exact binomial 95% CI on both pre- and post- pandemic serological data in the age groups considered. To estimate age-specific susceptibility to infection we used an age-structured SEIR model. RESULTS: By comparing pre- and post-pandemic serological data in Italy we found age- specific attack rates similar to those observed in other countries. Cumulative attack rate at the end of the first A/H1N1pdm season in Italy was estimated to be 16.3% (95% CI 9.4%-23.1%. Modeling results allow ruling out the hypothesis that only age-specific characteristics of the contact network and levels of pre-pandemic immunity are responsible for the observed age-specific risk of infection. This means that age-specific susceptibility to infection, suspected to play an important role in the pandemic, was not only determined by pre-pandemic levels of H1N1pdm antibody measured by HI. CONCLUSIONS: Our results claim for new studies to better identify the biological mechanisms, which might have determined the observed pattern of susceptibility with age. Moreover, our results highlight the need to obtain early estimates of differential susceptibility with age in

  10. Vitamin D Receptor Gene Polymorphisms in Susceptibility to Tuberculosis in the Kazakh Population in Almaty and Almaty Area

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    Maxat Zhabagin

    2014-01-01

    Full Text Available Introduction: Vitamin D receptor (VDR plays an important role in activating the immune response against various infectious agents. It is known that the active metabolite of ligand receptor Vitamin D (1,25 – dihydroxyvitamin D is encoded by VDR and helps mononuclear phagocytes to suppress the intracellular growth of M. tuberculosis. The VDR gene harbors approximately 200 polymorphisms, some of which are linked to differences in receptor Vitamin D uptake and therefore can be considered as candidate disease risk variants. The relation between VDR gene polymorphisms and susceptibility to TB has been studied in different populations. There is not a great deal of information regarding the association of these SNPs with TB risk in the Kazakh population. The four most commonly investigated VDR polymorphisms in association with different diseases, including susceptibility to tuberculosis, are located in exon 2 (rs2228570 or FokI, intron 8 (rs1544410 or BsmI and rs7975232 or ApaI, and exon 9 (rs731236 or TaqI. The aim of our study was to determine whether these four VDR gene single nucleotide polymorphisms were associated with TB and whether they were a risk for the development of TB in the Kazakh Population in Almaty city and Almaty area. Methods: This study was a hospital-based case-control analysis of 283 individuals (99 TB patients and 184 healthy controls. Genotyping was performed by Taqman SNP allelic discrimination using commercial TaqMan SNP Genotyping assays.  Statistical analysis was conducted using SPSS Version 19.0 software. Results: Genotype frequencies for the Kazakh population are close to world (HapMap data on Asian populations. FokI and ApaI polymorphisms genotypes tend to be associated with TB risk under the co-dominant model [OR=1.18; 95%CI: (0.68, 2.07, p=0.15] for FokI and [OR=1.33; 95%CI: (0.61, 2.91, p=0.6] for ApaI. No significant association between the disease and TaqI, BsmI genotypes was observed. Conclusions: In summary, we

  11. Allelic variation for broad-spectrum resistance and susceptibility to bacterial pathogens identified in a rice MAGIC population.

    Science.gov (United States)

    Bossa-Castro, Ana M; Tekete, Cheick; Raghavan, Chitra; Delorean, Emily E; Dereeper, Alexis; Dagno, Karim; Koita, Ousmane; Mosquera, Gloria; Leung, Hei; Verdier, Valérie; Leach, Jan E

    2018-02-06

    Quantitative trait loci (QTL) that confer broad-spectrum resistance (BSR), or resistance that is effective against multiple and diverse plant pathogens, have been elusive targets of crop breeding programmes. Multiparent advanced generation intercross (MAGIC) populations, with their diverse genetic composition and high levels of recombination, are potential resources for the identification of QTL for BSR. In this study, a rice MAGIC population was used to map QTL conferring BSR to two major rice diseases, bacterial leaf streak (BLS) and bacterial blight (BB), caused by Xanthomonas oryzae pathovars (pv.) oryzicola (Xoc) and oryzae (Xoo), respectively. Controlling these diseases is particularly important in sub-Saharan Africa, where no sources of BSR are currently available in deployed varieties. The MAGIC founders and lines were genotyped by sequencing and phenotyped in the greenhouse and field by inoculation with multiple strains of Xoc and Xoo. A combination of genomewide association studies (GWAS) and interval mapping analyses revealed 11 BSR QTL, effective against both diseases, and three pathovar-specific QTL. The most promising BSR QTL (qXO-2-1, qXO-4-1 and qXO-11-2) conferred resistance to more than nine Xoc and Xoo strains. GWAS detected 369 significant SNP markers with distinguishable phenotypic effects, allowing the identification of alleles conferring disease resistance and susceptibility. The BSR and susceptibility QTL will improve our understanding of the mechanisms of both resistance and susceptibility in the long term and will be immediately useful resources for rice breeding programmes. © 2018 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd.

  12. Susceptible and protective HLA class 1 alleles against dengue fever and dengue hemorrhagic fever patients in a Malaysian population.

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    Ramapraba Appanna

    Full Text Available BACKGROUND: The human leukocyte antigen alleles have been implicated as probable genetic markers in predicting the susceptibility and/or protection to severe manifestations of dengue virus (DENV infection. In this present study, we aimed to investigate for the first time, the genotype variants of HLA Class 1(-A and -B of DENV infected patients against healthy individuals in Malaysia. METHODOLOGY/PRINCIPAL FINDINGS: This study was carried out with 92 dengue disease patients and 95 healthy controls from three different ethnic groups (Malay, Chinese and Indian in Malaysia. All patients with clinical and laboratory confirmation of DENV infection were typed for the HLA-A and B loci, using polymerase chain reaction-sequence specific primer techniques. In our total population, a significant increase for HLA-B*53 (P = 0.042, Pc = 1.008 allele and a significant decrease for A*03 (P = 0.015, Pc = 0.18, OR = 5.23, 95% CI = 1.19-23.02 and B*18 (P = 0.017, Pc = 0.408 alleles were noted in DHF patients as compared to healthy donors. We also observed that in the Malay DHF patients, allele B*13 (P = 0.049, Pc = 1.176, OR = 0.18, 95% CI = 0.03-0.90 was present at a significantly higher frequency in this population while allele HLA-B*18 (P = 0.024, Pc = 0.576 was seen to be negatively associated with DHF. CONCLUSIONS/SIGNIFICANCE: These are the first findings on genetic polymorphisms in our population and we conclude that: (1 In our total population, HLA-B*53 probably involve in disease susceptibility, while the HLA-A*03 and HLA-B*18 may confer protection from progression to severe disease; (2 In the Malay population, HLA-B*13 and B*18 are probably associated in disease susceptibility and protection, respectively. These results could furnish as a valuable predictive tool to identify ethnically different individuals at risk and/or protection from severe forms of DENV infection and would provide valuable informations for the design of future dengue vaccine.

  13. Shower reconstruction in the CLUE experiment

    Energy Technology Data Exchange (ETDEWEB)

    Bartoli, B.; Bastieri, D.; Bigongiari, C. E-mail: bigongiari@pd.infn.it; Ciocci, M.A.; Cosulich, D.; Cresti, M.; Dokoutchaeva, V.; Kartashov, D.; Liello, F.; Malakhov, N.; Mariotti, M.; Marsella, G.; Menzione, A.; Paoletti, R.; Parlavecchio, G.; Peruzzo, L.; Piccioli, A.; Pegna, R.; Rosso, F.; Sacco, R.; Saggion, A.; Sartori, G.; Sartori, P.; Sbarra, C.; Scribano, A.; Smogailov, E.; Stamerra, A.; Turini, N

    2001-04-01

    The CLUE experiment studies primary cosmic rays (E{>=}2 TeV) by detecting UV (190-230 nm) Cherenkov light produced by atmospheric showers. Since atmospheric absorption in the UV range is higher than in the visible range, CLUE cannot apply algorithms normally used in IACT experiments to determine primary cosmic-ray direction. In this paper, we present a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. Preliminary results of the source analysis using this new method are shown.

  14. Shower reconstruction in the CLUE experiment

    International Nuclear Information System (INIS)

    Bartoli, B.; Bastieri, D.; Bigongiari, C.; Ciocci, M.A.; Cosulich, D.; Cresti, M.; Dokoutchaeva, V.; Kartashov, D.; Liello, F.; Malakhov, N.; Mariotti, M.; Marsella, G.; Menzione, A.; Paoletti, R.; Parlavecchio, G.; Peruzzo, L.; Piccioli, A.; Pegna, R.; Rosso, F.; Sacco, R.; Saggion, A.; Sartori, G.; Sartori, P.; Sbarra, C.; Scribano, A.; Smogailov, E.; Stamerra, A.; Turini, N.

    2001-01-01

    The CLUE experiment studies primary cosmic rays (E≥2 TeV) by detecting UV (190-230 nm) Cherenkov light produced by atmospheric showers. Since atmospheric absorption in the UV range is higher than in the visible range, CLUE cannot apply algorithms normally used in IACT experiments to determine primary cosmic-ray direction. In this paper, we present a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. Preliminary results of the source analysis using this new method are shown

  15. Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: Role of vitamin D receptor gene polymorphisms.

    Science.gov (United States)

    Meng, Shuai; He, Shuang-tao; Jiang, Wen-juan; Xiao, Ling; Li, Dan-feng; Xu, Jian; Shi, Xiao-hong; Zhang, Jin-an

    2015-12-01

    Previous studies have found that some immune-related genes were associated with autoimmune thyroid diseases (AITDs). A couple of studies have explored the association between vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR) gene polymorphisms and susceptibility to AITDs in different populations and found conflicting results. This case-control study was designed to evaluate the role of polymorphisms of VDR gene in the predisposition of AITDs in a Chinese Han population. A total of 417 patients with Graves' disease (GD), 250 patients with Hashimoto's thyroiditis (HT) and 301 healthy subjects were enrolled. The Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform was applied to detect four SNPs (rs1544410, rs2228570, rs731236 and rs7975232) in the VDR gene. In the rs7975232 allele A frequency showed a significant increase in GD patients (30.34% vs. 25.42% in controls; P=0.041, OR=1.278, 95%CI=1.010-1.617). However, no relationship was found between clinical phenotypes and the four SNPs. This result suggests that the VDR gene may be one susceptibility gene which contributes to the risk of GD. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  16. Deltamethrin pyrethroid susceptibility characterization of Triatoma sordida Stål, 1859 (Hemiptera: Reduviidae populations in the Northern Region of Minas Gerais, Brazil

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    Grasielle Caldas DÁvila Pessoa

    2014-08-01

    Full Text Available Introduction Triatoma sordida is the most captured Triatomine species in the Brazilian artificial environment. In 2008, the discovery of three Triatomine populations with altered susceptibilities to deltamethrin highlighted the importance of investigating the genetic potential for resistance in triatomines. The purpose of this study was to characterize the susceptibility to deltamethrin of peridomestic T. sordida populations in Minas Gerais, Brazil. Methods A susceptibility reference lineage derived from Uberaba, Minas Gerais, Brazil was used. Serial dilutions of deltamethrin were prepared and applied to the dorsal abdomen of first instar nymphs. The control group received only pure acetone. Mortality was evaluated after 72h. Qualitative tests assessed mortality in response to a diagnostic dose of 1xLD99 of the susceptibility reference lineage. Results Susceptibility profile characterization of T. sordida populations revealed resistance ratios (RR50s ranging from 0.42 to 3.94. The percentage mortality in response to the diagnostic dose varied from 70% to 100%. A comparison of the results obtained in the quantitative and qualitative assays demonstrated a lack of correspondence for some populations. Conclusions We demonstrated that only T. sordida populations that present a RR50>1.0 have altered susceptibility, and the execution of simultaneous field and laboratory tests is required to understand the actual effect of vector control. A possible cause of the observed resistance ratios might be the continuous use of pyrethroids in Brazil since the 1980s.

  17. Susceptibility to mortality related to temperature and heat and cold wave duration in the population of Stockholm County, Sweden

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    Joacim Rocklöv

    2014-03-01

    Full Text Available Background: Ambient temperatures can cause an increase in mortality. A better understanding is needed of how health status and other factors modify the risk associated with high and low temperatures, to improve the basis of preventive measures. Differences in susceptibility to temperature and to heat and cold wave duration are relatively unexplored. Objectives: We studied the associations between mortality and temperature and heat and cold wave duration, stratified by age and individual and medical factors. Methods: Deaths among all residents of Stockholm County between 1990 and 2002 were linked to discharge diagnosis data from hospital admissions, and associations were examined using the time stratified case-crossover design. Analyses were stratified by gender, age, pre-existing disease, country of origin, and municipality level wealth, and adjusted for potential confounding factors. Results: The effect on mortality by heat wave duration was higher for lower ages, in areas with lower wealth, for hospitalized patients younger than age 65. Odds were elevated among females younger than age 65, in groups with a previous hospital admission for mental disorders, and in persons with previous cardiovascular disease. Gradual increases in summer temperatures were associated with mortality in people older than 80 years, and with mortality in groups with a previous myocardial infarction and with chronic obstructive pulmonary disease (COPD in the population younger than 65 years. During winter, mortality was associated with a decrease in temperature particularly in men and with the duration of cold spells for the population older than 80. A history of hospitalization for myocardial infarction increased the odds associated with cold temperatures among the population older than 65. Previous mental disease or substance abuse increased the odds of death among the population younger than 65. Conclusion: To increase effectiveness, we suggest preventive efforts

  18. Association of STAT4 polymorphisms with susceptibility to type-1 autoimmune hepatitis in the Japanese population.

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    Kiyoshi Migita

    Full Text Available BACKGROUND/AIMS: Recent studies demonstrated an association of STAT4 polymorphisms with autoimmune diseases including systemic lupus erythematosus and rheumatoid arthritis, indicating multiple autoimmune diseases share common susceptibility genes. We therefore investigated the influence of STAT4 polymorphisms on the susceptibility and phenotype of type-1 autoimmune hepatitis in a Japanese National Hospital Organization (NHO AIH multicenter cohort study. METHODOLOGY/PRINCIPAL FINDINGS: Genomic DNA from 460 individuals of Japanese origin including 230 patients with type-1 autoimmune hepatitis and 230 healthy controls was analyzed for two single nucleotide polymorphisms in the STAT4 gene (rs7574865, rs7582694. The STAT4 rs7574865T allele conferred risk for type-1 autoimmune hepatitis (OR = 1.61, 95% CI = 1.23-2.11; P = 0.001, and patients without accompanying autoimmune diseases exhibited an association with the rs7574865T allele (OR = 1.50, 95%CI = 1.13-1.99; P = 0.005. Detailed genotype-phenotype analysis of type-1 autoimmune hepatitis patients with (n = 44 or without liver cirrhosis (n = 186 demonstrated that rs7574865 was not associated with the development of liver cirrhosis and phenotype (biochemical data and the presence of auto-antibodies. CONCLUSIONS/SIGNIFICANCE: This is the first study to show a positive association between a STAT4 polymorphism and type-1 autoimmune hepatitis, suggesting that autoimmune hepatitis shares a gene commonly associated with risk for other autoimmune diseases.

  19. DISPARITIES IN CARDIOVASCULAR RISK FROM ORGANOPHOSPHATE-BASED PESTICIDE EXPOSURE IN SUSCEPTIBLE POPULATIONS.

    Science.gov (United States)

    High blood pressure (hypertension), the most common of all cardiovascular (CVD) diseases, is a major cause of morbidity and mortality in the United States, and a large percentage of the population manifests a genetic predisposition. Hypertension is polygenetically inherited, envi...

  20. Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population

    DEFF Research Database (Denmark)

    Ernst, Anja; Jacobsen, Bent Ascanius; Østergaard, Mette

    2007-01-01

    Three CAspase Recruitment Domain (CARD15) mutations have shown to predispose to Crohn's disease in Caucasian populations. The aim of this study was to investigate the mutation frequency in patients with inflammatory bowel disease and in healthy controls in Denmark.......Three CAspase Recruitment Domain (CARD15) mutations have shown to predispose to Crohn's disease in Caucasian populations. The aim of this study was to investigate the mutation frequency in patients with inflammatory bowel disease and in healthy controls in Denmark....

  1. Fingernails Yield Clues to Limb Regeneration

    Science.gov (United States)

    ... Spotlight on Research Fingernails Yield Clues to Limb Regeneration By Kirstie Saltsman, Ph.D. | January 5, 2014 ... Diseases has uncovered chemical signals that drive the regeneration of lost digit tips in mice. The findings, ...

  2. Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test.

    Science.gov (United States)

    Torres, A K; Escartín, N; Monzó, C; Guzmán, C; Ferrer, I; González-Muñoz, C; Peña, P; Monzó, V; Marcaida, G; Rodríguez-López, R

    To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. We studied the prevalence of the genotypes (TA) 6/6 (TA) 6/7 and (TA) 7/7 of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients. By analysing the genomic region of the TATA box of the UGT1A1 gene promotor using Sanger sequencing, we established the correlation between the rs8175347 genotypes and the fasting test results and with the patients' biochemical disorders. The rate of heterozygosity of allele (TA) 7 in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA 7/7 was 81.94% among the patients with hyperbilirubinemia, compared with 11.33% in the control patients. The fasting test showed a 15.79% rate of false negatives and a 5.26% rate of false positives. The high frequency of allele (TA) 7 among the Valencian control population, almost double the 5% reported for European control patients, confirms the high rate of GS reported in the Spanish population, without observing significant differences between the geographical ends of the country. The efficacy and reliability of the fasting test for the diagnosis of GS is questionable. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  3. Anthelmintic resistance: Management of parasite refugia for Haemonchus contortus through the replacement of resistant with susceptible populations.

    Science.gov (United States)

    Muchiut, Sebastián Manuel; Fernández, Alicia Silvina; Steffan, Pedro Eduardo; Riva, Eliana; Fiel, César Alberto

    2018-04-30

    Sheep production in tropical and temperate regions is hampered by the presence of Haemonchus contortus, the blood-sucking nematode that is the major cause of economic losses in small ruminant enterprises. The most limiting factor in the control of this parasitic disease is the steady progress of anthelmintic resistance worldwide. The search for control strategies that minimise the use of anthelmintics is therefore central to various efforts worldwide. One strategy is the introduction of susceptible parasites in refugia when these refugia are at low levels. This strategy could lead to a renewed possibility anthelmintics being effective. At farm level, this management practice could recover the use of anthelmintics in flocks with high levels of resistance. This review explores the possibility of replacing resistant H. contortus populations with susceptible ones through refugia management and. highlights the experiences of on-farm research attempts carried out in different geographical areas, reaching various degrees of success. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. Association between single-nucleotide polymorphism in CISH gene and susceptibility to tuberculosis in Chinese Han population.

    Science.gov (United States)

    Zhao, Lan; Chu, Haiqing; Xu, Xiaogang; Yue, Jun; Li, Huiping; Wang, Minggui

    2014-04-01

    The cytokine-inducible SRC homology 2 domain (CISH) gene is up-regulated by IL-2 in response to infection, and inhibits microbial infection. The objective of the present study was to examine whether genetic variants of CISH (SNPs) are associated with increased susceptibility to tuberculosis (TB) in individuals of Chinese Han ethnicity. We sequenced five previously identified SNPs of CISH in patients with TB or healthy controls. Three of the SNPs, rs148685070 [position -639; C/C], rs414171 [position -292; A/T], and rs6768300 [position -163; C/G]) are located in the promoter region, while the fourth (rs2239751 [position +1320; A/C]) near the translation start site, and the fifth (rs622502 [position +3415; C/G]) in the third intron. The AA genotypes of the SNPs rs2239751 and rs414171 were significantly associated with TB. Multivariate logistic regression analysis demonstrated that subjects with the rs414171 AA genotype were more likely to have TB than those with the AT genotype. By contrast, we did not observe genetic variants of the rs148685070 SNP. In conclusion, two genetic variants in CISH gene appear to increase susceptibility to TB in Chinese Han population.

  5. Genetic testing for breast cancer susceptibility: awareness and interest among women in the general population.

    Science.gov (United States)

    Tambor, E S; Rimer, B K; Strigo, T S

    1997-01-10

    Previous research has suggested that demand for genetic testing for breast cancer susceptibility may be quite high, even among those at relatively low risk of carrying a mutation. This study examined the extent to which a group of female HMO enrollees were aware of the discovery of the BRCA1 gene and, without having received detailed information about the test, whether they would be interested in being tested to find out if they have the gene. Factors associated with awareness of and interest in testing were also examined. Four hundred seventy-three women age 50 and over, almost all of whom did not have an increased risk of breast cancer based on family history, were surveyed by telephone. Fifty-one percent of respondents had heard about the discovery of a breast cancer gene. In logistic regression analysis, women who described themselves as comfortable financially, had at least some college education, and were premenopausal were more likely to have heard of the gene discovery than women who were not comfortable financially, had no more than a high school education, and were postmenopausal. Sixty-nine percent of the respondents said that they would be interested in being tested to find out if they had a breast cancer gene. Women who were younger than 60, white, believed their family would benefit if they had a mammogram, and believed that regular mammograms give them a feeling of control over their health, were more likely to be interested in testing than those who were 60 or older, African-American or other, and did not believe that their family would benefit if they had a mammogram or that mammograms give them a feeling of control over their health. These findings have implications for education and counseling. Women who express an interest in being tested must be made fully aware of the limitations and possible consequences of testing. Special efforts may be needed to make information about testing available to women who have low levels of education.

  6. Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and typhoid susceptibility in Asian Malay population in Malaysia.

    Science.gov (United States)

    Bhuvanendran, Saatheeyavaane; Hussin, Hani M; Meran, Lila P; Anthony, Amy A; Zhang, Leilei; Burch, Lauranell H; Phua, Kia K; Ismail, Asma; Balaram, Prabha

    2011-09-01

    Typhoid fever is a major health problem with frequent outbreaks in Kelantan, Malaysia. Prevalence of TLR4 gene polymorphisms varies with ethnic groups (0-20%) and predisposean individual to gram-negative infections. The prevalence rate of TLR4 Asp299Gly and Thr399lle polymorphisms in the Malay population or the influence of these on typhoid fever susceptibility is not yet reported. 250 normal and 304 susceptible Malay individuals were investigated for these polymorphisms using allele-specific PCR and analysed for its association with typhoid fever susceptibility. The total prevalence of polymorphisms in the normal population was 4.8% in comparison to 12.5% in the susceptible population (p = 0.002). An increased frequency of both polymorphisms was observed in the susceptible population (p population and suggests that these polymorphisms confer a higher risk for typhoid, infection. The higher incidence of typhoid fever in Kelantan could be attributed to the higher percentage of Malays (95%) in this state. In order to reduce the incidence of this disease, people with these polymorphisms, can be prioritised for prophylactic strategies. Copyright © 2011 Institut Pasteur. Published by Elsevier Masson SAS. All rights reserved.

  7. Susceptibility of male oriental fruit moth (Lepidoptera: Tortricidae) populations from New Jersey apple orchards to azinphosmethyl.

    Science.gov (United States)

    Usmani, K A; Shearer, P W

    2001-02-01

    Toxicological responses to azinphosmethyl of male Oriental fruit moth, Grapholita molesta (Busck), from five commercial orchards in which control failures had occurred were examined for azinphosmethyl resistance and for potential resistance mechanisms by using topical pheromone trap bioassay and compared with a reference population that had no history of control failure and had received little selection pressure. The 1998 field survey indicated moderate level of resistance to azinphosmethyl (2.7-4.1-fold); slopes of regressions lines (2.47-2.76) indicate genetically heterogeneous populations. An approximate twofold decline was observed between the fourth flight of 1998 and the first flight of 1999, suggesting the presence of unstable resistance in moths collected from these study sites. The 1999 field surveys indicated lower levels of tolerance to azinphosmethyl. The resistance ratios ranged from 1.17 to 1.86 during the first flight of 1999 and 1.24-2.64 during the fourth flight of 1999. Steep slopes of the concentration-response lines during 1999 season indicated the presence of genetically homogeneous populations with some exceptions. A 1.5-2.0-fold increase was observed between the first and fourth flights of 1999, indicating that resistance can build up during the growing season. S,S,S,-tri-n-butyl phosphorotrithioate (DEF), but not piperonyl butoxide, significantly enhanced the toxicity of azinphosmethyl, suggesting that enhanced metabolism by esterases is involved in the tolerance of azinphosmethyl in moths collected from these study sties.

  8. Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population.

    Science.gov (United States)

    Dong, L; Mao, M; Luo, R; Tong, Y; Yu, D

    2011-10-19

    Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients. Conflicting findings have been reported in different populations; few studies have explored whether this apparent association is affected by other host factors, such as specific epilepsy syndrome. We performed a case-control study to determine whether the risk of infantile spasms is influenced by common ABCB1 polymorphisms in a Han Chinese children's population consisting of 91 patients and 368 healthy individuals. DNA was isolated from whole blood, and three genetic polymorphisms (C1236T, G2677T/A, and C3435T) were assayed by PCR-RFLP. There were significant differences in the distributions of 3435TT [P = 0.001; odds ratio = 2.47; 95% confidence interval (CI) = 1.44-4.27] and 3435CT [P infantile spasm cases and controls. No significant differences were observed in allelic and haplotypic frequencies of ABCB1 polymorphisms between the two groups. This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome.

  9. A TagSNP in SIRT1 gene confers susceptibility to myocardial infarction in a Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Jie Cheng

    Full Text Available SIRT1 exerts protective effects against endothelial cells dysfunction, inflammation and atherosclerosis, indicating an important role on myocardial infarction (MI pathogenesis. Nonetheless, the effects of SIRT1 variants on MI risk remain poorly understood. Here we aimed to investigate the influence of SIRT1 polymorphisms on individual susceptibility to MI. Genotyping of three tagSNPs (rs7069102, rs3818292 and rs4746720 in SIRT1 gene was performed in a Chinese Han population, consisting of 287 MI cases and 654 control subjects. In a logistic regression analysis, we found that G allele of rs7069102 had increased MI risk with odds ratio (OR of 1.57 [95% confidence interval (CI = 1.15-2.16, Bonferroni corrected P (Pc = 0.015] after adjustment for conventional risk factors compared to C allele. Similarly, the combined CG/GG genotypes was associated with the increased MI risk (OR = 1.64, 95% CI = 1.14-2.35, Pc = 0.021 compared to the CC genotype. Further stratified analysis revealed a more significant association with MI risk among younger subjects (≤ 55 years old. Consistent with these results, the haplotype rs7069102G-rs3818292A-rs4746720T containing the rs7069102 G allele was also associated with the increased MI risk (OR = 1.41, 95% CI = 1.09-1.84, Pc = 0.040. However, we did not detect any association of rs3818292 and rs4746720 with MI risk. Our study provides the first evidence that the tagSNP rs7069102 and haplotype rs7069102G-rs3818292A-rs4746720T in SIRT1 gene confer susceptibility to MI in the Chinese Han population.

  10. Human Leukocyte Antigen Class II Alleles Are Associated with Hepatitis C Virus Natural Susceptibility in the Chinese Population

    Directory of Open Access Journals (Sweden)

    Ming Yue

    2015-07-01

    Full Text Available Human leukocyte antigen (HLA class II molecule influences host antigen presentation and anti-viral immune response. The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs within HLA class II gene were associated with different clinical outcomes of hepatitis C virus (HCV infection. Three HLA class II SNPs (rs3077, rs2395309 and rs2856718 were genotyped by TaqMan assay among Chinese population, including 350 persistent HCV infection patients, 194 spontaneous viral clearance subjects and 973 HCV-uninfected control subjects. After logistic regression analysis, the results indicated that the rs2856718 TC genotype was significantly associated with the protective effect of the HCV natural susceptibility (adjusted OR: 0.712, 95% CI: 0.554–0.914 when compared with reference TT genotype, and this remained significant after false discovery rate (FDR correction (p = 0.024. Moreover, the protective effect of rs2856718 was observed in dominant genetic models (adjusted OR: 0.726, 95% CI: 0.574–0.920, and this remained significant after FDR correction (p = 0.024. In stratified analysis, a significant decreased risk was found in rs2856718C allele in the male subgroup (adjusted OR: 0.778, 95% CI: 0.627–0.966 and hemodialysis subgroup (adjusted OR: 0.713, 95% CI: 0.552–0.921. Our results indicated that the genetic variations of rs2856718 within the HLA-DQ gene are associated with the natural susceptibility to HCV infection among the Chinese population.

  11. Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.

    Science.gov (United States)

    Hlousková, Alena; Bonczek, Ondrej; Izakovicová-Hollá, Lydie; Lochman, Jan; Soukalová, Jana; Stembírek, Jan; Mísek, Ivan; Cernochová, Pavlína; Krejcí, Premysl; Vanek, Jirí; Šerý, Omar

    2015-01-01

    Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI). We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study. In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.

  12. RAGE gene three polymorphisms with Crohn's disease susceptibility in Chinese Han population.

    Science.gov (United States)

    Wang, Zheng-Ting; Hu, Jia-Jia; Fan, Rong; Zhou, Jie; Zhong, Jie

    2014-03-07

    To investigate the association of three polymorphisms in the receptor for advanced glycation end product (RAGE) gene with Crohn's disease (CD) risk in a Chinese population. A hospital-based case-control association study involving 312 CD patients and 479 healthy controls was conducted. Peripheral blood samples were collected from 791 study subjects, and genomic DNA was extracted. Genotyping was performed using polymerase chain reaction-ligase detection reaction method. The association between polymorphic genotype and CD predisposition was determined using odds ratio and 95% confidence interval (CI). Data were analyzed using Haplo.stats program. Significant differences were observed between patients and controls in allele/genotype distributions of rs1800624 (P(allele)=0.012; P(genotype)=0.005) and in allele distributions of rs2070600 (P=0.02). The risk for CD associated with the rs1800624-A mutant allele decreased by 36% (95%CI: 0.47-0.88, P = 0.005) under the additive model and by 35% (95%CI: 0.46-0.91, P=0.013) under the dominant model. Carriers of rs2070600-A mutant allele showed a 37% (95%CI: 1.02-1.83, P=0.036) increased risk of developing CD relative to the GG genotype carriers. In haplotype analysis, haplotype T-A-G (in the order rs1800625, rs1800624, and rs2070600) decreased the odds of CD by 33% (95%CI: 0.49-0.94, P=0.018). CD is an immune-related disease with genetic predisposition. Genetic defects in the RAGE gene are strongly associated with CD in Chinese population.

  13. Polymorphisms and functional haplotype in PADI4: further evidence for contribution on rheumatoid arthritis susceptibility and anti-cyclic citrullinated peptide antibodies in a western Mexican population.

    Science.gov (United States)

    Guzmán-Guzmán, Iris Paola; Reyes-Castillo, Zyanya; Muñoz-Barrios, Salvador; Ruiz-Noa, Yeniley; Martínez-Bonilla, Gloria Esther; Parra-Rojas, Isela; Palafox-Sánchez, Claudia Azucena; Muñoz-Valle, José Francisco

    2015-02-01

    Peptidyl arginine deiminase IV (PADI4) enzyme catalyzes the citrullination of proteins, which are recognized by anti-cyclic citrullinated peptide antibodies (anti-CCP) in rheumatoid arthritis (RA) patients. Here, we determined the association between PADI4 gene polymorphisms and haplotypes with RA susceptibility and clinical characteristics in a western Mexican population. The relationship of PADI4 polymorphisms with anti-CCP and PADI4 mRNA expression was also evaluated. PADI4_89, PADI4_90 and PADI4_92 polymorphisms were individually associated with RA susceptibility. The GTG haplotype was significantly associated with: RA susceptibility; disease onset at ≤ 40 years and anti-CCP antibodies. PADI4 expression was three fold higher in RA patients carrying the susceptibility haplotype (GTG) than in non-susceptibility haplotype carriers (ACC). In conclusion, polymorphisms and functional haplotype (GTG) in PADI4 are associated with RA susceptibility as well as anti-CCP antibodies in a Mexican population. This supports the role of PADI4 early in RA pathogenesis by promoting the generation of citrullinated autoantigens. Copyright © 2014 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.

  14. HLA class II alleles may influence susceptibility to adult dermatomyositis and polymyositis in a Han Chinese population

    Science.gov (United States)

    2014-01-01

    Background Polymyositis (PM) and dermatomyositis (DM) are idiopathic inflammatory myopathies. Genetic variability in human leukocyte antigen (HLA) genes plays an important role in the pathogenesis of PM and DM. However, few studies on the subject in Chinese populations have been reported thus far. Methods We studied the influence of HLA polymorphisms on DM and PM susceptibility by analyzing HLA-DRB1, HLA-DQA1, and HLA-DQB1 alleles in 71 adult DM patients, 20 adult PM patients, and 113 controls in a Han Chinese population. Results A positive association was found between HLA-DQA1*0104 and DM (p = 0.01; corrected p (pcorr) NS; odds ratio (OR) = 2.58; 95% confidence interval (CI): 1.18–5.64), while an inverse correlation was noted between HLA-DQB1*0303 and myositis patients with interstitial lung inflammation (p = 0.01; pcorr NS; OR = 0.25; 95% CI: 0.07–0.73). A positive relationship was also observed between HLA-DRB1*07 and DM (p = 0.01; pcorr NS; OR = 2.26; 95% CI: 1.12–4.59), while HLA-DRB1*03 seems to be protective against DM (p = 0.01; pcorr NS; OR = 0.26; 95% CI: 0.06–0.81). The lung complication was closely associated with HLA-DRB1*04 (p = 0.01; pcorr NS; OR = 2.82; 95% CI: 1.15–6.76) and HLA-DRB1*12 (p = 0.02; pcorr NS; OR = 2.52; 95% CI: 1.02–6.07). The frequency of HLA-DRB1*07 was significantly higher among myositis patients with dysphagia than among controls (p = 0.01; pcorr NS; OR = 4.78; 95% CI: 1.03–24.42). The putative haplotype DRB1*07-DQA1*01-DQB1*02 was positively correlated with DM (p = 0.03; pcorr NS; OR = 2.90; 95% CI: 1.02–8.93) and the lung complication (p = 0.02; pcorr NS; OR = 3.45; 95% CI: 1.04–11.58). Conclusions Our results demonstrate that HLA alleles may be involved in susceptibility to adult DM and PM in the Han Chinese population. PMID:24894810

  15. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population.

    Science.gov (United States)

    Han, Yue; Pan, Yongchu; Du, Yifei; Tong, Na; Wang, Meilin; Zhang, Zhengdong; Wan, Linzhong; Wang, Lin

    2011-12-01

    Nonsyndromic orofacial clefts (NSOC) are one of the most common congenital anomalies in humans. Great efforts have been taken to unravel its genetic background. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in folate metabolism and two of its functional polymorphisms, MTHFR C677T and MTHFR A1298C, might be associated with NSOC susceptibility. The aim of the present study was to investigate their associations with risks of NSOC in a southern Chinese population. We found that MTHFR 677 TT and 677 CT/TT were associated with increased risk of cleft lip with or without cleft palate; meanwhile, MTHFR 1298 AC and 1298 AC/CC had protective effects against cleft lip with or without cleft palate. In further stratified analysis, we found that MTHFR 677 CT contributed to elevated risk of cleft lip only, as did MTHFR 677 CT/TT. On the contrary, MTHFR 1298 AC and 1298 AC/CC appeared to be protective against cleft lip with cleft palate. These results suggested that these two polymorphisms were involved in the development of NSOC in a southern Han Chinese population.

  16. Relevance of GSTM1, GSTT1 and GSTP1 Gene Polymorphism to Breast Cancer Susceptibility in Mizoram Population, Northeast India.

    Science.gov (United States)

    Kimi, Lalro; Ghatak, Souvik; Yadav, Ravi Prakash; Chhuani, Lalhma; Lallawmzuali, Doris; Pautu, Jeremy L; Kumar, Nachimuthu Senthil

    2016-02-01

    The enzymes encoded by glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) genes are involved in the metabolism of wide range of carcinogens that are ubiquitous in the environment. Homozygous deletions of the GSTM1 and GSTT1 genes are commonly found and result in lack of enzyme activity. This study was undertaken to evaluate the association between GSTM1, GSTT1 and GSTP1 gene polymorphism and breast cancer risk in Mizoram population. Odd ratio (OR) and 95% confidence interval (CI) from conditional logistic regression model were used to estimate the association between genetic polymorphism and breast cancer risk. The GSTM1 and GSTT1 null genotypes were associated with an increased risk of breast cancer [OR = 10.80 (95% CI 1.16-100.43)]. The risk of breast cancer associated with the GSTT1 null genotype was observed to be low among postmenopausal women. When considered together, GSTM1 and GSTT1 genotypes were found to be associated with an increased risk of breast cancer. The relationship between GSTM1 and GSTT1 gene deletions and breast cancer risk was substantially altered by consumption of Smoked Meat/Vegetable. In the present study, GSTP1Ile105Val (rs1695) polymorphism was related to breast cancer susceptibility or phenotype. Our data provides evidence for substantially increased risk of breast cancer associated with GSTM1 and/or GSTT1 homozygous gene deletions in Mizoram population.

  17. Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal.

    Directory of Open Access Journals (Sweden)

    Lisa M Esteves

    Full Text Available Leptospirosis is a worldwide zoonotic and recognized neglected infectious disease. It has been observed that only a proportion of individuals exposed to pathogenic species of Leptospira become infected and develop clinically evident disease. Moreover, little information is available in subsequent reinfections. In the present study, we determine if a first infection with leptospirosis protects against subsequent reinfection, and investigate which of the host genetic factors are involved in the susceptibility and resistance to leptospirosis.We conducted, in 2011, a retrospective hospital-based case-control study in the São Miguel Island population (Azores archipelago. In order to determine the seropositivity against pathogenic Leptospira after the first episode of leptospirosis, we performed a serological evaluation in 97 unrelated participants diagnosed with leptospirosis between 1992 and 2011. The results revealed that 46.4% of the 97 participants have circulating anti-Leptospira antibodies, and from these participants 35.6% maintained the seroprevalence for the same serogroup. Moreover, three of them were reinfected with unrelated Leptospira serovars. The genetic study was carried out by adding a control group composed of 470 unrelated healthy blood donors, also from São Miguel Island. Twenty five SNPs among twelve innate immune genes - IL1α, IL1β, IL6, IL10, IL12RB1, TLR2, TLR4, TLR9, CD14, CISH, LTA and TNF - were genotyped, as well as HLA class I (-A and -B genes. Association analysis indicates that genotypes -511GG (OR=1.6, 95%CI 1.01-2.56, p=0.04 in IL1β, +1196CG (OR=2.0, 95%CI 1.26-3.27, p=0.003 in IL12RB1, -292TA (OR=1.8, 95% CI 1.06-2.1, p=0.03 and +3415CG (OR=1.8, 95% CI 1.08-3.08, p=0.02, both in CISH confer susceptibility to pathogenic Leptospira.The present study suggests some degree of long-term protection against leptospires with an attenuation of symptoms in case of reinfection. Moreover, our data supports the genetic

  18. Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence.

    Science.gov (United States)

    Zhou, Xiaodong; Tan, Filemon K; Wang, Ning; Xiong, Momiao; Maghidman, Samuel; Reveille, John D; Milewicz, Dianna M; Chakraborty, Ranajit; Arnett, Frank C

    2003-09-01

    Systemic sclerosis (SSc) is a complex, multisystem connective tissue disease in which genetic factors contribute to disease susceptibility. The aim of this study was to localize chromosome regions associated with susceptibility to SSc in a relatively isolated and homogeneous population of Choctaw Indians with a high prevalence of SSc. A genome-wide microsatellite screen at 10 cM resolution (400 markers) was performed in 20 Choctaw patients with SSc and 76 ethically matched controls. Based on the results of the initial screen, fine-scale microsatellite mapping at TOPOI genes, respectively, confirming the results of our previous studies, which used different markers. D1S2800 and D14S63 have been reported to show linkage to systemic lupus erythematosus (SLE) in family-based studies, and D1S206, D6S422, and D6S264 are loci on 1p21.2, 6p22.3, and 6q23-27, respectively, which are in regions reported as showing linkage to SLE and other autoimmune diseases. Other markers showing unique associations with SSc were D7S510 (7p12-11), D7S661 (7q35), D8S514 (8q24.12), D19S221 (19p13.2), D19S220 (19q13.2), D22S423 (22q13.1), DXS1068 (Xp11.4), and DXS8055 (Xq21-23). Further analysis with fine-scale microsatellite mapping revealed at least 14 potential haplotypes associated with SSc. Our findings indicate that a number of genetic loci may contribute to the high prevalence of SSc in the Choctaw and are consistent with the paradigm that some autoimmune rheumatic diseases are likely to share genetic determinants.

  19. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and susceptibility to gastric adenocarcinoma in an Italian population.

    Science.gov (United States)

    Boccia, Stefania; Gianfagna, Francesco; Persiani, Roberto; La Greca, Antonio; Arzani, Dario; Rausei, Stefano; D'ugo, Domenico; Magistrelli, Paolo; Villari, Paolo; Van Duijn, Cornelia M; Ricciardi, Gualtiero

    2007-01-01

    Methylenetetrahydrofolate reductase (MTHFR) plays a central role in the metabolism of folate, which provides a methyl donor for DNA methylation and deoxynucleoside synthesis. We performed a case-control study to explore the relationship between two common MTHFR polymorphisms (C677T and A1298C), their combination and interaction with environmental exposures, on gastric adenocarcinoma susceptibility and progression in an Italian population. One hundred and two cases and 254 hospital controls, matched by age and gender, were enrolled. Individuals carrying the MTHFR 677T allele showed an increased risk of gastric cancer (odds ratio (OR) 1.62, 95% confidence interval (CI) 0.98-2.67), particularly among ever smokers (OR 2.10, 95% CI 1.07-5.33) and, among 677 TT individuals, those with a low intake of fruit and vegetables (OR 2.18, 95% CI 1.05-4.54). The strongest effect, however, was noted for the MTHFR 677 TT genotype among the diffuse gastric cancer histotype (OR 2.92, 95% CI 1.12-7.60). No association was detected for the effect of MTHFR A1298C polymorphism. Survival analysis did not show any association between each polymorphism on the overall survival, although when the analysis was restricted to the first year of follow-up after the surgical intervention an improved survival was noted among MTHFR 677 CC subjects compared with the T allele carriers (p value for log-rank test 0.02). In conclusion, MTHFR 677 (any T genotype) appears to modulate an individual's susceptibility to gastric cancer, particularly when combined with cigarette smoking and among those with a low intake of fruit and vegetables. Our results also suggest that an aberrant DNA methylation pattern, through impaired folate metabolism, might play a key role in gastric carcinogenesis. A possible survival effect of the MTHFR C677T genotype in gastric cancer patients deserves further investigations with larger sample sizes.

  20. Population Genetics and Antimicrobial Susceptibility of Canine Campylobacter Isolates Collected before and after a Raw Feeding Experiment.

    Science.gov (United States)

    Olkkola, Satu; Kovanen, Sara; Roine, Johanna; Hänninen, Marja-Liisa; Hielm-Björkman, Anna; Kivistö, Rauni

    2015-01-01

    In recent years, increasing numbers of consumers have become interested in feeding raw food for their pet dogs as opposed to commercial dry food, in the belief of health advantages. However, raw meat and internal organs, possibly contaminated by pathogens such as Campylobacter spp., may pose a risk of transmission of zoonoses to the pet owners. Campylobacter jejuni is the leading cause of bacterial gastroenteritis in humans but C. upsaliensis has also been associated with human disease. In this study we investigated the effect of different feeding strategies on the prevalence of Campylobacter spp. in Finnish dogs. We further characterized the isolates using multilocus sequence typing (MLST), whole-genome (wg) MLST and antimicrobial susceptibility testing. Dogs were sampled before and after a feeding period consisting of commercial raw feed or dry pellet feed. Altogether 56% (20/36) of the dogs yielded at least one Campylobacter-positive fecal sample. C. upsaliensis was the major species detected from 39% of the dogs before and 30% after the feeding period. Two C. jejuni isolates were recovered, both from raw-fed dogs after the dietary regimen. The isolates represented the same genotype (ST-1326), suggesting a common infection source. However, no statistically significant correlation was found between the feeding strategies and Campylobacter spp. carriage. The global genealogy of MLST types of dog and human C. upsaliensis isolates revealed weakly clonal population structure as most STs were widely dispersed. Major antimicrobial resistance among C. upsaliensis isolates was against streptomycin (STR MIC > 4 mg/l). Apart from that, all isolates were highly susceptible against the antimicrobials tested. Mutations were found in the genes rpsL or rpsL and rsmG in streptomycin resistant isolates. In conclusion, increasing trend to feed dogs with raw meat warrants more studies to evaluate the risk associated with raw feeding of pets in transmission of zoonoses to humans.

  1. Population Genetics and Antimicrobial Susceptibility of Canine Campylobacter Isolates Collected before and after a Raw Feeding Experiment.

    Directory of Open Access Journals (Sweden)

    Satu Olkkola

    Full Text Available In recent years, increasing numbers of consumers have become interested in feeding raw food for their pet dogs as opposed to commercial dry food, in the belief of health advantages. However, raw meat and internal organs, possibly contaminated by pathogens such as Campylobacter spp., may pose a risk of transmission of zoonoses to the pet owners. Campylobacter jejuni is the leading cause of bacterial gastroenteritis in humans but C. upsaliensis has also been associated with human disease. In this study we investigated the effect of different feeding strategies on the prevalence of Campylobacter spp. in Finnish dogs. We further characterized the isolates using multilocus sequence typing (MLST, whole-genome (wg MLST and antimicrobial susceptibility testing. Dogs were sampled before and after a feeding period consisting of commercial raw feed or dry pellet feed. Altogether 56% (20/36 of the dogs yielded at least one Campylobacter-positive fecal sample. C. upsaliensis was the major species detected from 39% of the dogs before and 30% after the feeding period. Two C. jejuni isolates were recovered, both from raw-fed dogs after the dietary regimen. The isolates represented the same genotype (ST-1326, suggesting a common infection source. However, no statistically significant correlation was found between the feeding strategies and Campylobacter spp. carriage. The global genealogy of MLST types of dog and human C. upsaliensis isolates revealed weakly clonal population structure as most STs were widely dispersed. Major antimicrobial resistance among C. upsaliensis isolates was against streptomycin (STR MIC > 4 mg/l. Apart from that, all isolates were highly susceptible against the antimicrobials tested. Mutations were found in the genes rpsL or rpsL and rsmG in streptomycin resistant isolates. In conclusion, increasing trend to feed dogs with raw meat warrants more studies to evaluate the risk associated with raw feeding of pets in transmission of

  2. Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population

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    Hudgens Edward E

    2011-02-01

    Full Text Available Abstract Background Asthma and allergy represent complex phenotypes, which disproportionately burden ethnic minorities in the United States. Strong evidence for genomic factors predisposing subjects to asthma/allergy is available. However, methods to utilize this information to identify high risk groups are variable and replication of genetic associations in African Americans is warranted. Methods We evaluated 41 single nucleotide polymorphisms (SNP and a deletion corresponding to 11 genes demonstrating association with asthma in the literature, for association with asthma, atopy, testing positive for food allergens, eosinophilia, and total serum IgE among 141 African American children living in Detroit, Michigan. Independent SNP and haplotype associations were investigated for association with each trait, and subsequently assessed in concert using a genetic risk score (GRS. Results Statistically significant associations with asthma were observed for SNPs in GSTM1, MS4A2, and GSTP1 genes, after correction for multiple testing. Chromosome 11 haplotype CTACGAGGCC (corresponding to MS4A2 rs574700, rs1441586, rs556917, rs502581, rs502419 and GSTP1 rs6591256, rs17593068, rs1695, rs1871042, rs947895 was associated with a nearly five-fold increase in the odds of asthma (Odds Ratio (OR = 4.8, p = 0.007. The GRS was significantly associated with a higher odds of asthma (OR = 1.61, 95% Confidence Interval = 1.21, 2.13; p = 0.001. Conclusions Variation in genes associated with asthma in predominantly non-African ethnic groups contributed to increased odds of asthma in this African American study population. Evaluating all significant variants in concert helped to identify the highest risk subset of this group.

  3. Magnetic susceptibility of road deposited sediments at a national scale – Relation to population size and urban pollution

    International Nuclear Information System (INIS)

    Jordanova, Diana; Jordanova, Neli; Petrov, Petar

    2014-01-01

    Magnetic properties of road dusts from 26 urban sites in Bulgaria are studied. Temporal variations of magnetic susceptibility (χ) during eighteen months monitoring account for approximately 1/3rd of the mean annual values. Analysis of heavy metal contents and magnetic parameters for the fraction d  2  = −0.84) is observed between the ratio ARM/χ and Pb content. It suggests that Pb is related to brake/tyre wear emissions, releasing larger particles and higher Pb during slow driving – braking. Bulk χ values of road dusts per city show significant correlation with population size and mean annual NO 2 concentration on a log-normal scale. The results demonstrate the applicability of magnetic measurements of road dusts for estimation of mean NO 2 levels at high spatial density, which is important for pollution modelling and health risk assessment. - Highlights: • temporal variations of road dust magnetic susceptibility comprise 1/3 of the signal. • high negative correlation between Pb content and magnetic ratio ARM/χ is obtained. • brake- and tyre ware emissions are the main pollution sources of the road dusts. • road dust magnetic susceptibility rises parallel with logarithm of population size. • linear correlation is found between mean NO 2 concentrations and susceptibility. - Magnetic susceptibility of road dusts on a national scale increases proportionally to the population size and mean NO 2 concentrations due to the effect of traffic related pollution

  4. HSD17B12 gene rs11037575 C>T polymorphism confers neuroblastoma susceptibility in a Southern Chinese population

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    Zhang ZR

    2017-04-01

    Full Text Available Zhuorong Zhang,1,2 Yan Zou,2 Jinhong Zhu,3 Ruizhong Zhang,2 Tianyou Yang,2 Fenghua Wang,2 Huimin Xia,1,2 Jing He,2 Zhichun Feng1,4–6 1Southern Medical University, Guangzhou, Guangdong, 2Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, 3Molecular Epidemiology Laboratory, Department of Laboratory Medicine, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, 4Division of Neonatology, Affiliated BaYi Children’s Hospital, Clinical Medical College in PLA Army General Hospital, Southern Medical University, 5National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, 6Beijing Key Laboratory of Pediatric Organ Failure, Beijing, People’s Republic of China Abstract: A previous genome-wide association study (GWAS identified four genetic polymorphisms (rs1027702 near DUSP12, rs10055201 in IL31RA, rs2619046 in DDX4, and rs11037575 in HSD17B12 gene that were associated with neuroblastoma susceptibility, especially for low-risk subjects. The aim of this study was to examine the association between these four polymorphisms and neuroblastoma susceptibility in a Southern Chinese population composed of 256 cases and 531 controls. Overall, among all the polymorphisms, single-locus analysis only revealed significant association between the HSD17B12 rs11037575 C>T polymorphism and neuroblastoma susceptibility (CT vs CC: adjusted odds ratio [OR] =0.71, 95% confidence interval [CI] =0.51–0.97, P=0.030. Moreover, stratified analysis indicated that the rs11037575 T allele was associated with decreased neuroblastoma risk among the children aged 0–18 months (adjusted OR =0.60, 95% CI =0.37–0.97, P=0.036; regarding the tumor site, this polymorphism protected against tumor in the mediastinum (adjusted OR =0.59, 95% CI =0.37–0.94, P=0.025. When risk genotypes were combined, we found that girls with

  5. Determination of the Baseline Susceptibility of European Populations of Cydia pomonella (Lepidoptera: Tortricidae) to Chlorantraniliprole and the Role of Cytochrome P450 Monooxygenases.

    Science.gov (United States)

    Bosch, Dolors; Rodríguez, Marcela A; Depalo, Laura; Avilla, Jesús

    2018-04-02

    The codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae), is the key pest on pome fruit and walnut orchards worldwide. Its resistance to available insecticides has been widely reported. Chlorantraniliprole is an anthranilic diamide that was introduced in European countries in 2008-2009 and acts by activating the insect's ryanodine receptors. The aims of this study were to determine the baseline susceptibility of European populations of C. pomonella to chlorantraniliprole, to establish the discriminant concentrations (DC) to check the possible development of resistance, and to know the role of cytochrome P450 monooxygenases (P450) in the possible susceptibility decrease of field populations to the insecticide. Ten field populations from Spain along with others were used to calculate the baseline response of larvae to chlorantraniliprole incorporated into the diet. A pooled probit line was calculated, and three DC were established: 0.3 mg a.i./kg (close to the LC50), 1.0 mg a.i./kg (close to the LC90), and 10 mg a.i./kg diets (threefold the LC99). The DC were used to test the susceptibility of 27 field populations from France, Germany, Hungary, Italy, and Spain. The corrected mortality observed in all cases ranged within the expected interval, even with Spanish populations that showed between 12.1 and 100.0% of individuals with high P450 activity. However, the mortality caused by the DC0.3 decreased as the mean P450 activity increased. Field populations resistant to other insecticides were susceptible to chlorantraniliprole. The determined baseline codling moth susceptibility is a valuable reference for tracking possible future alterations in the efficacy of the insecticide.

  6. Haplotypes of nine single nucleotide polymorphisms on chromosome 19q13.2-3 associated with susceptibility of lung cancer in a Chinese population

    DEFF Research Database (Denmark)

    Yin, Jiaoyang; Vogel, Ulla Birgitte; Ma, Yegang

    2008-01-01

    To evaluate the joint effect of nine single nucleotide polymorphisms for three DNA repair genes in the region of chromosome 19q13.2-3 on susceptibility of lung cancer in a Chinese population, we conducted a hospital-based case-control study consisting of 247 lung cancer cases and 253 cancer...

  7. Identifying populations most susceptible to get benefit from broadening the scope for prevention of cervical cancer: Example from Uruguay.

    Science.gov (United States)

    Sequera, Víctor-Guillermo; Mena, Marisa; Hollmann, Malen; Mani, Estefani; Ramas, Viviana; Bonilla, Sylvia; Guerra, Alicia; Borgia, Fernando

    2018-03-16

    To identify factors associated with high-risk human papillomavirus (HPV) infection and high grade squamous intraepithelial lesion (HSIL) among a high-risk group of HPV-unvaccinated women in Montevideo. Participants completed a questionnaire on socio-demographics, sexual behavior and gynecological history and received a gynecological examination. HPV DNA was detected by PCR using MY09/11 primers. Logistic regression analyses were performed to identify factors associated with high-risk HPV infection and HSIL. A total of 469 women with HPV DNA and cytological results completed the questionnaire. Among women older than 30 years, those with high number of sexual partners and regular housing conditions were more likely to be positive for high-risk HPV infection (adjusted OR: 2.94, 95%CI: 1.01-8.51 and 2.68, 95%CI: 1.01-7.21, respectively). A marginally non-statistically significant association between getting a HSIL and having a high number of sexual partners was also observed (adjusted OR: 3.22, 95%CI: 0.97-10.75). In an era of development of new strategies for accelerating the reduction of cervical cancer incidence and mortality, our results may contribute to identify populations most susceptible to get benefit from broadening the scope for prevention of cervical cancer and could be used with other triage strategies. Copyright © 2018. Published by Elsevier B.V.

  8. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

    DEFF Research Database (Denmark)

    Unoki, Hiroyuki; Takahashi, Atsushi; Kawaguchi, Takahisa

    2008-01-01

    diabetes (additive model: rs2237895, P = 7.3 x 10(-9); OR = 1.32, 95% CI = 1.20-1.45, rs2237897, P = 6.8 x 10(-13); OR = 1.41, 95% CI = 1.29-1.55). The association of these SNPs with type 2 diabetes was replicated in samples from Singaporean (additive model: rs2237895, P = 8.5 x 10(-3); OR = 1.14, rs......We conducted a genome-wide association study using 207,097 SNP markers in Japanese individuals with type 2 diabetes and unrelated controls, and identified KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) to be a strong candidate for conferring susceptibility to type 2 diabetes......2237897, P = 2.4 x 10(-4); OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 x 10(-11); OR = 1.24, rs2237897, P = 1.2 x 10(-4); OR = 1.36)....

  9. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  10. Does Mental Health Status Influence Susceptibility to the Physiologic Effects of Air Pollution? A Population Based Study of Canadian Children.

    Science.gov (United States)

    Dales, Robert E; Cakmak, Sabit

    2016-01-01

    Both air pollution exposure and the presence of mental illness are associated with an increased risk of physical illness. To determine whether or not children with less favourable mental health are more susceptible to pulmonary and cardiovascular effects of ambient air pollution, compared to those who are mentally healthy. We carried out a cross-sectional study of 1,883 children between the ages of 6 and 17 years of age who participated in the Canadian Health Measures population survey between 2007 and 2009. Subjects were assigned the air pollution values obtained from the National Air Pollution monitor closest to their neighborhood. Lung function, heart rate and blood pressure were stratified by indicators of mental health. The latter were ascertained by questions about feelings of happiness, a diagnosed mood disorder, and the emotional symptom subscale of the Strengths and Difficulties Questionnaire. Among those who reported a mood disorder, an interquartile increase in ozone was associated with increases in systolic and diastolic pressures of 3.8 mmHg (95% CI 1.6, 5.9) and 3.0mmHg (95%CI 0.9, 5.2) respectively, and a decreases in FVC of 7.6% (95% CI 2.9, 12.3). No significant changes in these variables were observed in those who did not report a mood disorder. Among those with unfavourable emotional symptoms, ozone was associated with a 6.4% (95% CI 1.7, 11.3) increase in heart rate, a 4.1% (95%CI 1.2, 7.1) increase in systolic blood pressure, and a 6.0% (95% CI 1.4, 10.6) decrease in FEVl. No significant effect was seen in these variables among those with no emotional symptoms. In the Canadian population, children who report mood disorders or unfavourable emotional symptoms appear to be more vulnerable to the adverse physiologic effects of air pollution.

  11. IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population.

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    Hongtao Dong

    Full Text Available PURPOSE: The interleukin-23 receptor (IL-23R has been shown to be associated with ankylosing spondylitis (AS in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. METHODS: Three single-nucleotide polymorphisms (SNP, rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR restriction fragment length polymorphism (RFLP assay. RESULTS: The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively. On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively. In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls. CONCLUSIONS: In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.

  12. Association of genetic variations in FOXO3 gene with susceptibility to noise induced hearing loss in a Chinese population.

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    Haoran Guo

    Full Text Available Noise induced hearing loss (NIHL, a multifactorial disease involving both genetic and environmental factors, is one of the most important occupational health hazards. Nonetheless, the influence of FOXO3 variants on NIHL risk have not been illuminated. This research was conducted to explore the effects of FOXO3 polymorphisms on individual susceptibility to NIHL. A total of 2689 industrial workers from one textile factory of east China were recruited to participate in the current research. Venous blood was collected, questionnaire and pure-tone audiometry (PTA was conducted by specialist physicians. Then, we performed genotyping of three selected SNPs (rs2802292, rs10457180, and rs12206094 in FOXO3 gene in 566 NIHL patients and 566 controls. Subsequently, the main effects of genotype and its interactions were evaluated. Our results revealed that individuals with the G allele of rs2802292, G allele of rs10457180, T allele of rs12206094 (OR = 1.43, 1.43, and 1.31 respectively and the haplotype GAC and others (TGT/GGT/GGC/GAT (rs2802292-rs10457180-rs12206094 (OR = 1.49 and 2.09 respectively are associated with an increased risk of NIHL in a Chinese population. Stratified analysis showed that an increased NIHL risk was found in the subjects who exposed to noise >16 years with rs2802292 GG/GT and rs10457180 AG/GG genotype with an OR of 1.62 and 1.66 respectively. Multifactor dimensionality reduction analysis indicated that rs10457180, rs2802292, and rs12206094 have interactions and are related to increased NIHL risk (OR = 1.53. The genetic polymorphism rs2802292, rs10457180, and rs12206094 within FOXO3 gene are associated with an increased risk of NIHL in a Chinese population and have potential to be biomarkers for noise exposed workers.

  13. Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population.

    Science.gov (United States)

    Domínguez, Eduardo; Loza, María Isabel; Padín, Fernando; Gesteira, Alejandro; Paz, Eduardo; Páramo, Mario; Brenlla, Julio; Pumar, Estefanía; Iglesias, Fernanda; Cibeira, Alcira; Castro, Marián; Caruncho, Héctor; Carracedo, Angel; Costas, Javier

    2007-02-01

    The serotonin and dopamine neurotransmitter systems are candidate pathways in the development of schizophrenia because of the assumed causal relationship with the observed symptoms as well as effective targeting of the corresponding receptors by antipsychotic drugs. However, genetic association studies have systematically focused on a limited set of genes and single nucleotide polymorphisms (SNPs), including T102C at HTR2A and Ser9Gly at DRD3. Meta-analyses of the associations between these two markers and schizophrenia revealed a true increase in risk, the magnitude of the effect being very low. In the present study we analyzed 260 schizophrenic patients and 354 control subjects from a homogeneous population, the Galician population, using an extensive linkage disequilibrium (LD) mapping approach, genotyping a total of 47 SNPs to test for the existence of additional variants that confer higher risk. We detected nominal significant association with schizophrenia for several haplotype tag SNPs (htSNPs) at HTR2A, although the significance was lost after multiple test corrections. In addition, haplotype analyses involving a sliding window approach, with window size 2 to 4 SNPs, revealed significant differences in frequencies of the DRD3 haplotypes at the 3' half of the gene region. This difference, which remains clearly significant after multiple test corrections (p=0.002, 0.0001, and 0.0025, for window sizes 2, 3, and 4, respectively), was mainly due to over-representation of several rare haplotypes in patients, at the expense of a single common haplotype; this represents interesting evidence of rare haplotypes for susceptibility detected using common htSNPs due to their strong effect.

  14. Midgut bacteria in deltamethrin-resistant, deltamethrin-susceptible, and field-caught populations of Plutella xylostella, and phenomics of the predominant midgut bacterium Enterococcus mundtii.

    Science.gov (United States)

    Li, Wenhong; Jin, Daochao; Shi, Caihua; Li, Fengliang

    2017-05-16

    Gut bacteria play a significant role in host insect. This study evaluated detail difference of midgut bacteria in deltamethrin-resistant, deltamethrin-susceptible and field-caught populations of diamondback moth, and studied phenomics of the predominant midgut bacterium Enterococcus mundtii. Cultivable bacteria revealed that E. mundtii and Carnobacterium maltaromaticum dominated the bacterial populations from deltamethrin-resistant and deltamethrin-susceptible larval midguts, whereas E. mundtii was predominant in field-caught population. Illumina sequencing analysis indicated that 97% of the midgut bacteria were from the phyla Firmicutes, Proteobacteria and Cyanobacteria. Both resistant and susceptible populations had more Enterococcus and Carnobacterium. Enterococcus, Carnobacterium, Bacillus, and Pseudomonas were predominant in the field-caught population. A phenomics analysis revealed that E. mundtii was able to metabolize 25.26% of the tested carbon sources, 100% of the nitrogen sources, 100% of the phosphorus sources and 97.14% of the sulfur sources, had a wide range of osmolytes and pH conditions, and showed active deaminase activity but no decarboxylase activity. This is the first report regarding different populations of DBM midgut bacteria analyzed using both high-throughput DNA sequencing and cultivation methods, and also first report concerning the phenomics of E. mundtii. The phenomics of E. mundtii provide a basis for the future study of gut bacteria functions.

  15. Genetic variation in bacterial kidney disease (BKD) susceptibility in Lake Michigan Chinook Salmon and its progenitor population from the Puget Sound

    Science.gov (United States)

    Purcell, Maureen K.; Hard, Jeffrey J.; Neely, Kathleen G.; Park, Linda K.; Winton, James R.; Elliott, Diane G.

    2014-01-01

    Mass mortality events in wild fish due to infectious diseases are troubling, especially given the potential for long-term, population-level consequences. Evolutionary theory predicts that populations with sufficient genetic variation will adapt in response to pathogen pressure. Chinook Salmon Oncorhynchus tshawytscha were introduced into Lake Michigan in the late 1960s from a Washington State hatchery population. In the late 1980s, collapse of the forage base and nutritional stress in Lake Michigan were thought to contribute to die-offs of Chinook Salmon due to bacterial kidney disease (BKD). Previously, we demonstrated that Lake Michigan Chinook Salmon from a Wisconsin hatchery have greater survival following BKD challenge relative to their progenitor population. Here, we evaluated whether the phenotypic divergence of these populations in BKD susceptibility was due to selection rather than genetic drift. Comparison of the overall magnitude of quantitative trait to neutral marker divergence between the populations suggested selection had occurred but a direct test of quantitative trait divergence was not significant, preventing the rejection of the null hypothesis of differentiation through genetic drift. Estimates of phenotypic variation (VP), additive genetic variation (VA) and narrow-sense heritability (h2) were consistently higher in the Wisconsin relative to the Washington population. If selection had acted on the Wisconsin population there was no evidence of a concomitant loss of genetic variation in BKD susceptibility. The Renibacterium salmoninarum exposures were conducted at both 14°C and 9°C; the warmer temperature accelerated time to death in both populations and there was no evidence of phenotypic plasticity or a genotype-by-environment (G × E) interaction. High h2 estimates for BKD susceptibility in the Wisconsin population, combined with a lack of phenotypic plasticity, predicts that future adaptive gains in BKD resistance are still possible and

  16. Susceptibility to deltamethrin of wild and domestic populations of Triatoma infestans of the Gran Chaco and the Inter-Andean Valleys of Bolivia.

    Science.gov (United States)

    Gomez, Marinely Bustamante; D'Avila, Grasielle Caldas Pessoa; Orellana, Ana Lineth Garcia; Cortez, Mirko Rojas; Rosa, Aline Cristine Luiz; Noireau, François; Diotaiuti, Liléia Gonçalves

    2014-11-14

    The persistence of Triatoma infestans and the continuous transmission of Trypanosoma cruzi in the Inter-Andean Valleys and in the Gran Chaco of Bolivia are of great significance. Coincidentally, it is in these regions the reach of the vector control strategies is limited, and reports of T. infestans resistance to insecticides, including in wild populations, have been issued. This study aims to characterize the susceptibility to deltamethrin of wild and domestic populations of T. infestans from Bolivia, in order to better understand the extent of this relevant problem. Susceptibility to deltamethrin was assessed in nine, wild and domestic, populations of T. infestans from the Gran Chaco and the Inter-Andean Valleys of Bolivia. Serial dilutions of deltamethrin in acetone (0.2 μL) were topically applied in first instar nymphs (F1, five days old, fasting, weight 1.2 ± 0.2 mg). Dose response results were analyzed with PROBIT version 2, determining the lethal doses, slope and resistance ratios (RR). Qualitative tests were also performed. Three wild T. infestans dark morph samples of Chaco from the Santa Cruz Department were susceptible to deltamethrin with RR50 of Bolivia are less susceptible.

  17. Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population.

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    Xuelong Zhang

    Full Text Available Hepatocyte nuclear factor 1β (HNF1β, a transcription factor encoded by the transcription factor 2 gene (TCF2, plays a critical role in pancreatic cell formation and glucose homeostasis. It has been suggested that single nucleotide polymorphisms (SNPs of TCF2 are associated with susceptibility to type 2 diabetes (T2D. However, published results are inconsistent and inclusive. To further investigate the role of these common variants, we examined the association of TCF2 polymorphisms with the risk of T2D in a Han population in northeastern China. We genotyped five SNPs in 624 T2D patients and 630 healthy controls by using a SNaPshot method, and evaluated the T2D risk conferred by individual SNPs and haplotypes. In the single-locus analysis, we found that rs752010, rs4430796 and rs7501939 showed allelic differences between T2D patients and healthy controls, with an OR of 1.26 (95% CI 1.08-1.51, P = 0.003, an OR of 1.23 (95% CI 1.06-1.55, P = 0.001 and an OR of 1.28 (95% CI 1.10-1.61, P = 0.001, respectively. Genotype association analysis of each locus also revealed that the homozygous carriers of the at-risk allele had a significant increased T2D risk compared to homozygous carriers of the other allele (OR 1.78, 95% CI 1.20-2.64 for rs752010; OR 1.82, 95% CI 1.24-2.67 for rs4430796; OR 1.95, 95% CI 1.31-2.90 for rs7501939, even after Bonferroni correction for multiple comparisons. Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 was associated with about 30% increase in T2D risk (OR 1.31, 95% CI 1.09-1.57, P = 0.01. Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. Larger studies with ethnically diverse populations are warranted to confirm the results reported in this investigation.

  18. Association between a C8orf13–BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility

    Science.gov (United States)

    Sugiura, Tomoko; Kawaguchi, Yasushi; Goto, Kanako; Hayashi, Yukiko; Gono, Takahisa; Furuya, Takefumi; Nishino, Ichizo; Yamanaka, Hisashi

    2014-01-01

    Background Accumulating evidence has shown that several non-HLA genes are involved in the susceptibility to polymyositis/dermatomyositis. This study aimed to investigate the involvement of C8orf13–BLK, one of the strongest candidate genes for autoimmune diseases, in susceptibility to polymyositis/dermatomyositis in the Japanese population. A possible gene–gene interaction between C8orf13–BLK and STAT4, which we recently showed to be associated with Japanese polymyositis/dermatomyositis, was also analyzed. Methods A single-nucleotide polymorphism in C8orf13–BLK (dbSNP ID: rs13277113) was investigated in the Japanese population using a TaqMan assay in 283 polymyositis patients, 194 dermatomyositis patients, and 656 control subjects. Results The C8orf13–BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (Pdermatomyositis (Pdermatomyositis susceptibility. The strongest association was observed in dermatomyositis, with an OR of 3.07 (95% CI; 1.57–6.02) for the carriers of four risk alleles at the two SNP sites, namely, rs1327713 and rs7574865. Conclusions This study established C8orf13–BLK as a new genetic susceptibility factor for polymyositis/dermatomyositis. Both C8orf13–BLK and STAT4 exert additive effects on disease susceptibility. These observations suggested that C8orf13–BLK, in combination with STAT4, plays a pivotal role in creating genetic susceptibility to polymyositis/dermatomyositis in Japanese individuals. PMID:24632671

  19. Polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) are associated with susceptibility to adult acute myeloid leukemia in a Chinese population.

    Science.gov (United States)

    Huang, Lulu; Deng, Donghong; Peng, Zhigang; Ye, Fanghui; Xiao, Qiang; Zhang, Bing; Ye, Bingbing; Mo, Zengnan; Yang, Xiaobo; Liu, Zhenfang

    2015-06-01

    Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in the metabolism of folate. Since acute myeloid leukemia (AML) is characterized by rapidly proliferating tissues that have a high requirement for DNA synthesis, it is possible that the presence of MTHFR polymorphisms could be linked to the multifactorial process of AML development. We evaluated the role of MTHFR C677T and A1298C polymorphisms in a case-control study comprising 98 AML patients and 2016 healthy controls in a Southern Chinese population. We further conducted a sub-study restricted to individuals who neither smoked nor drank alcohol (70 AML patients and 160 healthy controls). MTHFR polymorphisms in the patient and control groups were evaluated by SNaP shot genotype techniques and Illumina BeadChip, respectively. Logistic regression was used to assess the adjusted odds ratios (ORs) and 95% confidence intervals (95% CIs). The MTHFR 1298AC genotype and the 677CC/1298AC haplotype were significantly associated with a decreased risk of AML compared with the AA genotype and 677CC/1298AA haplotype (OR=0.60, 95% CI: 0.38-0.95, P=0.03; OR=0.49, 95% CI: 0.27-0.90, P=0.02, respectively). In addition, the 677TT genotype was significantly associated with an increased risk of AML compared with the AA genotype only in non-smokers and non-drinkers (OR=4.78; 95% CI=1.38-16.61, P=0.01). The results might suggest that MTHFR polymorphisms are significantly associated with AML risk. In addition, the role of MTHFR genetic susceptibility could be greater among non-smokers and non-drinkers. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Associations between the Genetic Polymorphisms of Osteopontin Promoter and Susceptibility to Cancer in Chinese Population: A Meta-Analysis.

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    Yulan Liu

    Full Text Available Several studies have been conducted to examine the associations between osteopontin (OPN promoter gene SPP1 polymorphisms with human cancers in Chinese population, but the results remain inconsistent. The aim of this meta-analysis is to clarify the associations between SPP1 polymorphisms and cancer susceptibility.All eligible case-control studies published up to March 2015 were identified by searching PubMed, Web of Science, Embase, and Cochrane Library without language restrictions. Pooled odds ratio (OR and 95% confidence interval (95% CI were calculated using fixed- or random-effect model.A total of 11 case-control studies were included; of those, there were eleven studies (3130 cases and 3828 controls for -443T>C polymorphism, ten studies (3019 cases and 3615 controls for -156G>GG polymorphism, eight studies (2258 cases and 2846 controls for -66T>G polymorphism. Overall, no evidence indicated that the -443 T>C polymorphism was associated with cancer risk (OR = 0.93, 95%CI 0.62-1.38 for dominant model, OR = 1.06, 95%CI 0.73-1.55 for recessive model, OR = 0.88, 95%CI 0.62-1.26 for CT vs TT model, OR = 1.03, 95%CI 0.61-1.73 for CC vs TT model. While, a significantly increase risk was found for -156 G>GG polymorphism (OR = 1.22, 95%CI 1.10-1.35 for dominant model, OR = 1.25, 95%CI 1.10-1.41 for recessive model, OR = 1.18, 95%CI 1.06-1.32 for GGG vs GG model, OR = 1.35, 95%CI 1.09-1.68 for GGGG vs GG model. For -66T>G polymorphism, we found a decrease risk of cancer (OR = 0.84, 95% CI 0.71-0.98 for dominant model, but this result changed (OR = 0.93, 95% CI 0.77-1.12 for dominant model when we excluded a study.This meta-analysis suggests that in Chinese population the -156G>GG polymorphism of SPP1 might be a risk factor for human cancers, while -443T>C mutation is not associated with cancer risk. For -66T>G polymorphism, it may be a protective factor for human cancers.

  1. The role of genetic diversity and past-history selection pressures in the susceptibility of Chironomus riparius populations to environmental stress.

    Science.gov (United States)

    Pedrosa, João A M; Cocchiararo, Berardino; Bordalo, Maria D; Rodrigues, Andreia C M; Soares, Amadeu M V M; Barata, Carlos; Nowak, Carsten; Pestana, João L T

    2017-01-15

    Natural populations experiencing intense selection and genetic drift may exhibit limited potential to adapt to environmental change. The present study addresses the following aspects of the "genetic erosion" hypothesis in the midge Chironomus riparius: does long-term mercury (Hg) contamination affect the Hg tolerance of midge populations inhabiting such impacted areas? If so, is there any fitness cost under changing environmental conditions? And does genetic impoverishment influence the susceptibility of C. riparius to cope with environmental stressful conditions? For this end, we tested the acute and chronic tolerance to Hg and salinity in four C. riparius populations differing in their levels of genetic diversity (assessed through microsatellite markers) and past-histories of Hg exposure. Results showed that the midge population collected from a heavily Hg-contaminated site had higher Hg tolerance compared to the population collected from a closely-located reference site suggesting directional selection for Hg-tolerant traits in its native environment despite no genetic erosion in the field. No increased susceptibility under changing environmental conditions of salinity stress was observed. Moreover, results also showed that populations with higher genetic diversity performed better in the partial life-cycle assays providing evidence on the key role that genetic diversity plays as mediator of populations' susceptibility to environmental stress. Our findings are discussed in terms of the suitability of C. riparius as a model organism in evolutionary toxicology studies as well as the validity of ecotoxicological assessments using genetically eroded laboratory populations. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. An association study of NRAMP1, VDR, MBL and their interaction with the susceptibility to tuberculosis in a Chinese population

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    Linlin Wu

    2015-09-01

    Conclusions: Our study suggests that genotypes of many polymorphic genes are associated with TB, it is necessary to further explore the mechanism of genotypes and gene-gene interaction in susceptibility to tuberculosis.

  3. The use of simple indicators for detecting potential coronary heart disease susceptibility in the air traffic controller population.

    Science.gov (United States)

    1972-05-01

    An analysis was made of an eight-year interval change in several indicators of coronary heart disease (CHD) susceptibility as measured on 475 male air traffic control (ATC) personnel. The initial measurements were obtained from these personnel as ATC...

  4. The use of simple indicators for detecting potential coronary heart disease susceptibility in the third-class airman population.

    Science.gov (United States)

    1972-07-01

    An analysis was made of an eight-year interval change in several Framingham Heart Study (FHS) indicators of coronary heart disease (CHD) susceptibility as measured on 475 male air traffic control (ATC) personnel. The initial measurements were obtaine...

  5. Genetic variation and significant association of polymorphism rs7700944 G>A of TIM-4 gene with rheumatoid arthritis susceptibility in Chinese Han and Hui populations.

    Science.gov (United States)

    Xu, J; Yang, Y; Liu, X; Wang, Y

    2012-10-01

    The T-cell immunoglobulin and mucin domains 1 (TIM-1) and 3 (TIM-3) have been shown to be associated with susceptibility to rheumatoid arthritis (RA) in many ethnicities. In this study, we investigated the rs7700944 polymorphism of the intron region of TIM-4 gene in Chinese Han and Hui populations, with and without RA in Ningxia Hui Autonomous Region of China. Our results demonstrated genetic variations of the TIM-4 gene, along with significantly different distributions of genotypes and alleles at rs7700944 site in these two populations, with or without RA (P Hui ethnic groups (P Hui groups (P Hui ethnicity. In addition to the genotype, the risk alleles of this single nucleotide polymorphism for RA in these two populations were also different, individuals with A allele was more susceptible to RA in Chinese Han [odds ratio (OR) = 1.930; 95% CI 1.412, 2.636; P Hui was G in this study (OR = 1.823; 95% CI 1.330, 2.498; P < 0.01). These findings strongly suggest that polymorphism of rs7700944 of TIM-4 may be a potential genetic variant among distinguished populations, as well as an important genetic factor associated with the RA susceptibility in many ethnicities. © 2012 Blackwell Publishing Ltd.

  6. A comparative antibody study of the potential susceptibility of Thoroughbred and non?Thoroughbred horse populations in Ireland to equine influenza virus

    OpenAIRE

    Gildea, Sarah; Arkins, Sean; Cullinane, Ann

    2010-01-01

    Please cite this paper as: Gildea et?al. (2010) A comparative antibody study of the potential susceptibility of Thoroughbred and non?Thoroughbred horse populations in Ireland to equine influenza virus. Influenza and Other Respiratory Viruses 4(6), 363?372. Background? In Ireland, horses may be protected against equine influenza virus (EIV) as a result of natural exposure or vaccination. Current mandatory vaccination programmes are targeted at highly mobile horses. A correlation between antibo...

  7. Schizophrenia susceptibility and age of diagnosis--a frailty approach.

    Science.gov (United States)

    Svensson, Elisabeth; Rogvin, Maria; Hultman, Christina M; Reichborn-Kjennerud, Ted; Sandin, Sven; Moger, Tron A

    2013-06-01

    Using a frailty model approach, we aim to evaluate the effect of early-life risk factors on susceptibility and age at diagnosis of schizophrenia. We assume paternal age and familial schizophrenia influence the susceptibility, while these and several early risk factors influence the age of diagnosis. Schizophrenia incidence data were derived from the population-based Swedish Patient Registry; including individuals aged 18 to 45 years, diagnosed between 1974 and 2008. Data were analyzed by a frailty model, a random effects model in survival analysis, using a compound Poisson model. 15,340 incident schizophrenia cases were included. For individuals without familial schizophrenia, a protective effect was seen across most ages of diagnosis for females, low paternal age, born in rural areas, and being born in later cohorts. For individuals with familial schizophrenia, a protective effect is found for females diagnosed between ages 18 and 30 years, corresponding values were 18-25 years for low paternal age. Being born in rural areas and in the last birth cohort was protective for all. The estimated proportion of susceptible was 5% for those without familial schizophrenia and 18% for individuals with familial schizophrenia. There was no statistically significant effect of paternal age on the proportion of susceptible. To our knowledge, this is the first regression modeling of time to schizophrenia diagnosis allowing for a non-susceptible fraction of the population, including age dependent modeling of covariate effects and an interaction. Applying frailty model to schizophrenia provide etiological clues, elucidating patterns of susceptibility and age-at-diagnosis for which early-life factors are of importance. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. Susceptibility in field populations of codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae), in Ontario and Quebec apple orchards to a selection of insecticides.

    Science.gov (United States)

    Grigg-McGuffin, Kristy; Scott, Ian M; Bellerose, Sylvie; Chouinard, Gérald; Cormier, Daniel; Scott-Dupree, Cynthia

    2015-02-01

    Codling moth is a major pest of pome fruit worldwide. Insecticide resistance has become a widespread pest management issue. However, the current status of insecticide resistance in Ontario and Quebec codling moth populations is unknown. Codling moth populations were collected from 27 orchards in Ontario and Quebec from 2008 to 2010. A series of laboratory bioassays were performed to establish baseline susceptibility of adults and larvae to azinphos-methyl, thiacloprid, chlorantraniliprole and methoxyfenozide. Adult codling moth percentage mortality ranged from 22 to 97% and from 21 to 85% when exposed to topical bioassays using azinphos-methyl and thiacloprid respectively. Azinphos-methyl LC50 values from three selected orchards were ca fivefold greater than those from an insecticide-susceptible population. Neonate larva percentage mortality ranged from 5 to 50%, from 15 to 65%, from 90 to 100% and from 10 to 40% when exposed to diet bioassays using azinphos-methyl, thiacloprid, chlorantraniliprole and methoxyfenozide respectively. Based on the response of the field-collected populations, resistance development to some registered insecticides was evident in some Ontario and Quebec populations. With the present status of insecticide resistance documented in these regions, modifications to codling moth management strategies should be initiated before changes in field efficacy occur. © 2014 Society of Chemical Industry.

  9. Identification and characterisation of microsatellite DNA markers in order to recognise the WSSV susceptible populations of marine giant black tiger shrimp, Penaeus monodon.

    Science.gov (United States)

    Chakrabarty, Usri; Dutta, Sourav; Mallik, Ajoy; Mondal, Debabrata; Mandal, Nripendranath

    2015-09-25

    White spot disease (WSD) which is caused by white spot syndrome virus (WSSV) creates severe epizootics in captured and cultured black tiger shrimp, resulting a huge loss in the economic output of the aquaculture industry worldwide. Performing selective breeding using DNA markers would prove to be a potential cost effective strategy for long term disease control in shrimps. In the present investigation, microsatellite DNA fingerprints were compared between naturally occurring WSSV resistant and susceptible populations of Penaeus monodon. After PCR with a set of shrimp specific primers three reproducible DNA fragments of varying sizes were found, among which 442 bp and 236 bp fragments were present in considerably higher frequencies in the WSSV susceptible shrimp population (p ≤ 0.0001). After WSSV challenge experiment the copy no. of WSSV was determined using real-time PCR, where it was found to be almost 4 × 10(3) fold higher in WSSV susceptible shrimps than in the resistant ones. Thus, these microsatellite DNA markers will be useful to distinguish between WSSV susceptible and resistant brood stocks of P. monodon. Sequencing studies revealed that these DNA markers were novel in P. monodon. Highest WSSV resistance using these DNA markers, was observed in the shrimp populations of Andaman Island and Chennai among the different coastal areas of India, suggesting these places as safe for specific pathogen resistant brood stock shrimp collection. This study will be a very effective platform towards understanding the molecular pathogenesis of WSD for generation of disease free shrimp aquaculture industry.

  10. Establishment of six homozygous MHC-B haplotype populations associated with susceptibility to Marek's disease in Chinese specific pathogen-free BWEL chickens.

    Science.gov (United States)

    Gao, Caixia; Han, Lingxia; Han, Jianlin; Liu, Jiasen; Jiang, Qian; Guo, Dongchun; Qu, Liandong

    2015-01-01

    The highly polymorphic chicken major histocompatibility complex (MHC) is associated with different levels of immunologic responses to certain avian pathogens. MHC-B haplotype chickens are an important genetic resource for studying the genetic determination of pathogen resistance and susceptibility. The BWEL chicken population is the only specific pathogen-free (SPF) chickens bred and developed by the State Center of Poultry Genetic Resources of Laboratory Animals in China. In this study, we successfully established six homozygous MHC-B haplotype populations from the BWEL chickens using microsatellite marker technology, named as BW/G(1, 2, 3, 5, 6, 7) lines, and their molecular genotypes were matched to six serologically defined MHC-B haplotypes, B13, B15, B2, B5, B21 and B19, respectively. The sequences of BF genes exons 2 and 3 from four successive generations (F1-F4) of the BW/G(n) lines were completely consistent with those of serologically defined MHC-B haplotypes. Subsequently, six BW/G(n) line specific allo-antisera were prepared by immunization with red blood cells (RBCs) and hemagglutination tests results showed the BW/G(n) SPF chickens could be serologically differentiated. Additionally, susceptibility to Marek's disease (MD) in the BW/G3 (B2 haplotype) and BW/G7 (B19 haplotype) lines were determined by comparing mortality, macroscopic and histopathological lesions, and viral loads in feather pulp. The BW/G7 line showed greater genetic susceptibility to the very virulent MD virus (MDV) strain than the BW/G3 line. The establishment of MHC-B haplotype chicken populations associated with susceptibility to MD will be helpful for studying host immune responses and further developing the more effective vaccines in the context of MHC specificities, and they are also very useful for an understanding of MHC genes architecture and function. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Alternative states and population crashes in a resource-susceptible-infected model for planktonic parasites and hosts

    NARCIS (Netherlands)

    Gerla, D.J.; Gsell, A.S.; Kooi, B.W.; Ibelings, B.W.; Donk, van E.; Mooij, W.M.

    2013-01-01

    1. Despite the strong impact parasites can have, only few models of phytoplankton ecology or aquatic food webs have specifically included parasitism. 2. Here, we provide a susceptible-infected model for a diatom-chytrid hostparasite system that explicitly includes nutrients, infected and uninfected

  12. Baseline Susceptibility of Field Populations of Helicoverpa armigera to Bacillus thuringiensis Vip3Aa Toxin and Lack of Cross-Resistance between Vip3Aa and Cry Toxins

    Directory of Open Access Journals (Sweden)

    Yiyun Wei

    2017-04-01

    Full Text Available The cotton bollworm Helicoverpa armigera (Hübner is one of the most damaging cotton pests worldwide. In China, control of this pest has been dependent on transgenic cotton producing a single Bacillus thuringiensis (Bt protein Cry1Ac since 1997. A small, but significant, increase in H. armigera resistance to Cry1Ac was detected in field populations from Northern China. Since Vip3Aa has a different structure and mode of action than Cry proteins, Bt cotton pyramids containing Vip3Aa are considered as ideal successors of Cry1Ac cotton in China. In this study, baseline susceptibility of H. armigera to Vip3Aa was evaluated in geographic field populations collected in 2014 from major cotton-producing areas of China. The LC50 values of 12 field populations ranged from 0.053 to 1.311 μg/cm2, representing a 25-fold range of natural variation among populations. It is also demonstrated that four laboratory strains of H. armigera with high levels of resistance to Cry1Ac or Cry2Ab have no cross-resistance to Vip3Aa protein. The baseline susceptibility data established here will serve as a comparative reference for detection of field-evolved resistance to Vip3Aa in H. armigera after future deployment of Bt cotton pyramids in China.

  13. The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.

    Science.gov (United States)

    López, Saioa; García, Oscar; Yurrebaso, Iñaki; Flores, Carlos; Acosta-Herrera, Marialbert; Chen, Hua; Gardeazabal, Jesús; Careaga, Jesús María; Boyano, María Dolores; Sánchez, Ana; Ratón-Nieto, Juan Antonio; Sevilla, Arrate; Smith-Zubiaga, Isabel; de Galdeano, Alicia García; Martinez-Cadenas, Conrado; Izagirre, Neskuts; de la Rúa, Concepción; Alonso, Santos

    2014-01-01

    We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.

  14. Population genetics of GYPB and association study between GYPB*S/s polymorphism and susceptibility to P. falciparum infection in the Brazilian Amazon.

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    Eduardo Tarazona-Santos

    2011-01-01

    Full Text Available Merozoites of Plasmodium falciparum invade through several pathways using different RBC receptors. Field isolates appear to use a greater variability of these receptors than laboratory isolates. Brazilian field isolates were shown to mostly utilize glycophorin A-independent invasion pathways via glycophorin B (GPB and/or other receptors. The Brazilian population exhibits extensive polymorphism in blood group antigens, however, no studies have been done to relate the prevalence of the antigens that function as receptors for P. falciparum and the ability of the parasite to invade. Our study aimed to establish whether variation in the GYPB*S/s alleles influences susceptibility to infection with P. falciparum in the admixed population of Brazil.Two groups of Brazilian Amazonians from Porto Velho were studied: P. falciparum infected individuals (cases; and uninfected individuals who were born and/or have lived in the same endemic region for over ten years, were exposed to infection but have not had malaria over the study period (controls. The GPB Ss phenotype and GYPB*S/s alleles were determined by standard methods. Sixty two Ancestry Informative Markers were genotyped on each individual to estimate admixture and control its potential effect on the association between frequency of GYPB*S and malaria infection.GYPB*S is associated with host susceptibility to infection with P. falciparum; GYPB*S/GYPB*S and GYPB*S/GYPB*s were significantly more prevalent in the in the P. falciparum infected individuals than in the controls (69.87% vs. 49.75%; P<0.02. Moreover, population genetics tests applied on the GYPB exon sequencing data suggest that natural selection shaped the observed pattern of nucleotide diversity.Epidemiological and evolutionary approaches suggest an important role for the GPB receptor in RBC invasion by P. falciparum in Brazilian Amazons. Moreover, an increased susceptibility to infection by this parasite is associated with the GPB S

  15. [A study on relationship between single nucleotide polymorphisms of vascular endothelial growth factor gene and susceptibility to systemic lupus erythematosus in China north Han population].

    Science.gov (United States)

    Lv, Hao-Zhe; Lin, Tao; Zhu, Xiang-Yang; Zhang, Jin-Tao; Lu, Jing

    2010-12-01

    To investigate relationship between single nucleotide polymorphism(SNP) of VEGF gene and susceptibility to systemic lupus erythematosus(SLE) in China north population. Six VEGF SNPs (rs2010963, rs3024994, rs3025000, rs3025010, rs3025035 and rs833070) of forty-four patients with SLE and one hundred healthy controls were examined by Sequenom chip-based MALDI-TOF mass spectomery platform. Different genotypes were analyzed statistically by SPSS 11.5. There was no significant difference between SLE patients and controls in frequency of rs2010963, rs3024994, rs3025000, rs3025010, rs3025035 genotype and allele (P>0.05). The frequency of rs833070 A allele was significantly higher in SLE than that in controls. (31.2% vs 20%, x(2);=4.547, P=0.033, OR=1.818 , 95% CI 1.045-3.162). In the patient with SLE, rs833070 G decreased the susceptibility of arthritis(56% vs 80.4%, x(2);=5.613, P=0.018, OR=0.336, 95% CI 0.134-0.843), while the genotype of rs833070 GG significantly decreased the susceptibility to arthritis(GGvsAG+AA: 28% vs 65.2%, x(2);=6.684, P=0.010, OR=0.207, 95% CI 0.061-0.705). VEGF rs833070 A may represent an inreased susceptibility to SLE in China north Han population. VEGF rs833070 G and rs833070 GG may play protective roles in the case of lupus arthritis.

  16. High temperature and temperature variation undermine future disease susceptibility in a population of the invasive garden ant Lasius neglectus

    Science.gov (United States)

    Pamminger, Tobias; Steier, Thomas; Tragust, Simon

    2016-06-01

    Environmental temperature and temperature variation can have strong effects on the outcome of host-parasite interactions. Whilst such effects have been reported for different host systems, long-term consequences of pre-infection temperatures on host susceptibility and immunity remain understudied. Here, we show that experiencing both a biologically relevant increase in temperature and temperature variation undermines future disease susceptibility of the invasive garden ant Lasius neglectus when challenged with a pathogen under a constant temperature regime. In light of the economic and ecological importance of many social insects, our results emphasise the necessity to take the hosts' temperature history into account when studying host-parasite interactions under both natural and laboratory conditions, especially in the face of global change.

  17. A functional 12T-insertion polymorphism in the ATP1A1 promoter confers decreased susceptibility to hypertension in a male Sardinian population.

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    Victoria L Herrera

    Full Text Available Identification of susceptibility genes for essential hypertension in humans has been a challenge due to its multifactorial pathogenesis complicated by gene-gene and gene-environment interactions, developmental programing and sex specific differences. These concurrent features make identification of causal hypertension susceptibility genes with a single approach difficult, thus requiring multiple lines of evidence involving genetic, biochemical and biological experimentation to establish causal functional mutations. Here we report experimental evidence encompassing genetic, biochemical and in vivo modeling that altogether support ATP1A1 as a hypertension susceptibility gene in males in Sardinia, Italy. ATP1A1 encodes the α1Na,K-ATPase isoform, the sole sodium pump in vascular endothelial and renal tubular epithelial cells. DNA-sequencing detected a 12-nucleotide long thymidine (12T insertion(ins/deletion(del polymorphism within a poly-T sequence (38T vs 26T in the ATP1A1 5'-regulatory region associated with hypertension in a male Sardinian population. The 12T-insertion allele confers decreased susceptibility to hypertension (P = 0.035; OR = 0.50 [0.28-0.93] accounting for 12.1 mmHg decrease in systolic BP (P = 0.02 and 6.6 mmHg in diastolic BP (P = 0.046. The ATP1A1 promoter containing the 12T-insertion exhibited decreased transcriptional activity in in vitro reporter-assay systems, indicating decreased α1Na,K-ATPase expression with the 12T-insertion, compared with the 12T-deletion ATP1A1 promoter. To test the effects of decreased α1Na,K-ATPase expression on blood pressure, we measured blood pressure by radiotelemetry in three month-old, highly inbred heterozygous knockout ATP1A1+/- male mice with resultant 58% reduction in ATP1A1 protein levels. Male ATP1A1+/- mice showed significantly lower blood pressure (P < 0.03 than age-matched male wild-type littermate controls. Concordantly, lower ATP1A1 expression is expected to lower Na

  18. Molecular and cellular analyses of HLA class II-associated susceptibility to autoimmune diseases in the Japanese population.

    Science.gov (United States)

    Nishimura, Y; Ito, H; Fujii, S; Tabata, H; Tokano, Y; Chen, Y Z; Matsuda, I; Mitsuya, H; Kira, J; Hashimoto, H; Senju, S; Matsushita, S

    2001-06-01

    Abstract It is well known that individuals who are positive for particular HLA class II alleles show a high risk of developing autoimmune diseases. HLA class II molecules expressed on antigen-presenting cells present antigenic peptides to CD4(+) T cells. Their extensive polymorphism affects the structures of peptides bound to HLA class II molecules to create individual differences in immune responses to antigenic peptides. In order to gain a better understanding of mechanisms of the association between HLA class II alleles and susceptibility to autoimmune diseases, it is important to identify self-peptides presented by disease-susceptible HLA class II molecules and triggering disease-causative T cells. Many of the autoimmune diseases are observed in all ethnic groups, whereas the incidence of diseases, clinical manifestations and disease-susceptible HLA class II alleles are different among various ethnic groups for some autoimmune diseases. These phenomena suggest that differences in autoimmune self-peptide(s) in the context of disease-susceptible HLA class II molecules may cause these differences. Therefore, comparisons among disease-susceptible HLA class II alleles, autoantigenic peptides, and clinical manifestations of autoimmune diseases in different ethnic groups would be helpful in elucidating the pathogenesis of the diseases. In this review, we describe our recent findings on (1) the uniqueness of both clinical manifestations and the HLA-linked genetic background of Asian-type (opticospinal form) multiple sclerosis, (2) the characteristics of glutamic acid decarboxylase 65 (GAD65) or β2-glycoprotein I (β2-GPI) autoreactive T cells in Japanese patients with insulin-dependent diabetes mellitus (IDDM) or anti-β2-GPI antibody-associated autoimmunity, respectively, and (3) the generation of an efficient delivery system of peptides to the HLA class II-restricted antigen presentation path-way by utilizing a class II-associated invariant chain peptide (CLIP

  19. Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study.

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    Magda K Ellis

    Full Text Available Although rare variants within the Toll-like receptor signalling pathway genes have been found to underlie human primary immunodeficiencies associated with selective predisposition to invasive pneumococcal disease (IPD, the contribution of variants in these genes to IPD susceptibility at the population level remains unknown. Complete re-sequencing of IRAK4, MYD88 and IKBKG genes was undertaken in 164 IPD cases from the UK and 164 geographically-matched population-based controls. 233 single-nucleotide variants (SNVs were identified, of which ten were in coding regions. Four rare coding variants were predicted to be deleterious, two variants in MYD88 and two in IRAK4. The predicted deleterious variants in MYD88 were observed as two heterozygote cases but not seen in controls. Frequencies of predicted deleterious IRAK4 SNVs were the same in cases and controls. Our findings suggest that rare, functional variants in MYD88, IRAK4 or IKBKG do not significantly contribute to IPD susceptibility in adults at the population level.

  20. Population genetics of GYPB and association study between GYPB*S/s polymorphism and susceptibility to P. falciparum infection in the Brazilian Amazon.

    Science.gov (United States)

    Tarazona-Santos, Eduardo; Castilho, Lilian; Amaral, Daphne R T; Costa, Daiane C; Furlani, Natália G; Zuccherato, Luciana W; Machado, Moara; Reid, Marion E; Zalis, Mariano G; Rossit, Andréa R; Santos, Sidney E B; Machado, Ricardo L; Lustigman, Sara

    2011-01-24

    Merozoites of Plasmodium falciparum invade through several pathways using different RBC receptors. Field isolates appear to use a greater variability of these receptors than laboratory isolates. Brazilian field isolates were shown to mostly utilize glycophorin A-independent invasion pathways via glycophorin B (GPB) and/or other receptors. The Brazilian population exhibits extensive polymorphism in blood group antigens, however, no studies have been done to relate the prevalence of the antigens that function as receptors for P. falciparum and the ability of the parasite to invade. Our study aimed to establish whether variation in the GYPB*S/s alleles influences susceptibility to infection with P. falciparum in the admixed population of Brazil. Two groups of Brazilian Amazonians from Porto Velho were studied: P. falciparum infected individuals (cases); and uninfected individuals who were born and/or have lived in the same endemic region for over ten years, were exposed to infection but have not had malaria over the study period (controls). The GPB Ss phenotype and GYPB*S/s alleles were determined by standard methods. Sixty two Ancestry Informative Markers were genotyped on each individual to estimate admixture and control its potential effect on the association between frequency of GYPB*S and malaria infection. GYPB*S is associated with host susceptibility to infection with P. falciparum; GYPB*S/GYPB*S and GYPB*S/GYPB*s were significantly more prevalent in the in the P. falciparum infected individuals than in the controls (69.87% vs. 49.75%; Pselection shaped the observed pattern of nucleotide diversity. Epidemiological and evolutionary approaches suggest an important role for the GPB receptor in RBC invasion by P. falciparum in Brazilian Amazons. Moreover, an increased susceptibility to infection by this parasite is associated with the GPB S+ variant in this population.

  1. A comparative antibody study of the potential susceptibility of Thoroughbred and non-Thoroughbred horse populations in Ireland to equine influenza virus.

    Science.gov (United States)

    Gildea, Sarah; Arkins, Sean; Cullinane, Ann

    2010-11-01

    In Ireland, horses may be protected against equine influenza virus (EIV) as a result of natural exposure or vaccination. Current mandatory vaccination programmes are targeted at highly mobile horses. A correlation between antibody levels as measured by single radial haemolysis (SRH) and protective immunity against EIV has been established. The objective of this study was to determine the susceptibility of selected populations of horses by quantifying their antibodies to EIV. Blood samples were collected from Thoroughbred weanlings, yearlings, racehorses and broodmares, teaser stallions and non-Thoroughbred horses. Antibodies against EIV H3N8 and H7N7 were measured by SRH. The order of susceptibility to Equine Influenza (EI) in the populations examined in Ireland was as follows: Thoroughbred weanlings > teasers > non-Thoroughbred horses and ponies > Thoroughbred yearlings > Thoroughbred horses in training > Thoroughbred broodmares. The H3N8 antibody levels of the weanlings, yearlings, broodmares and horses in training were similar to their H7N7 antibody levels, suggesting that their antibodies were primarily vaccinal in origin. The teasers and non-Thoroughbreds had higher H3N8 antibody levels than H7N7 antibody levels, suggesting that the majority of seropositive horses in these populations had been exposed to H3N8 by natural infection. Weanlings, teasers and non-Thoroughbred horses were identified as most susceptible to EIV. The results suggest that it would be advisable that weanlings are vaccinated prior to attendance at public sales, that teaser stallions are vaccinated prior to each breeding season and that mandatory vaccination be implemented for participation in non-Thoroughbred events. © 2010 Blackwell Publishing Ltd.

  2. Association of methylenetetrahytrofolate reductase (MTHFR) C677T and A1298C polymorphisms with the susceptibility of childhood acute lymphoblastic leukaemia (ALL) in Chinese population.

    Science.gov (United States)

    Li, Xiaolei; Liao, Qingchuan; Zhang, Shunguo; Chen, Minling

    2014-01-29

    The aim of this study was to investigate the relationship between the polymorphisms of the methylenetetrahytrofolate reductase (MTHFR) gene and susceptibility to childhood acute lymphoblastic leukemia (ALL). A case-control study was conducted among 98 children with ALL and 93 age- and sex- matched non-ALL controls. Genotyping of MTHFR C677T and A1298C polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) of MTHFR genotypes were used to assess the associations of these polymorphisms with childhood ALL susceptibility. No significant differences were observed for frequencies of the 677CC, 677CT and 677TT genotypes between patients and controls. Frequencies of the 1298AA, 1298 AC and 1298CC genotypes between the two groups were significantly different. The risk of ALL with the 1298C allele carriers (AC + CC) was elevated by 1.1 times compared with the AA genotype [OR = 2.100; 95% CI (1.149; 3.837); P = 0.015]. The MTHFR A1298C polymorphism is associated with susceptibility to childhood ALL in the Chinese population.

  3. Genetic variant of miR-4293 rs12220909 is associated with susceptibility to non-small cell lung cancer in a Chinese Han population.

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    Lixia Fan

    Full Text Available Non-small cell lung cancer is one of the most common cancers and the leading cause of cancer death worldwide. Genetic variants in regulatory regions of some miRNAs might be involved in non-small cell lung cancer susceptibility and survival. rs12220909 (G/C genetic polymorphism in miR-4293 has been shown to be associated with decreased risk of esophageal squamous cell carcinoma. However, the influence of rs12220909 genetic variation on non-small cell lung cancer susceptibility has not been reported. In order to evaluate the potential association between miR-4293 rs12220909 and non-small cell lung cancer risk in a Chinese population, we performed a case-control study among 998 non-small cell lung cancer cases and 1471 controls. The data shows that miR-4293 rs12220909 was significantly associated with decreased susceptibility to non-small cell lung cancer (GC vs.GG: OR = 0.681, 95%CI = 0.555-0.835, P = 2.19E-4; GG vs. GC+CC: OR = 0.687, 95%CI = 0.564-0.837, P = 1.95E-4, which indicates that rs12220909 in miR-4293 may play a significant role in the development of non-small cell lung cancer.

  4. Recurrent Syncope, a Clue in Amyloid Cardiomyopathy

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    Julian A. Marin-Acevedo

    2018-01-01

    Full Text Available Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyopathy. The disease usually presents with subtle, nonspecific symptoms. Herein, we illustrate a case of recurrent syncope as the initial presenting symptom for systemic amyloid with polyneuropathy and cardiomyopathy as a cause of syncope. The article illustrates the role of advanced cardiac imaging in the diagnosis of the disease with a focused literature review. We also highlight the role of early, shared decision-making between patient, family, and medical team in the management of cardiac amyloidosis.

  5. HLA alleles and HLA-B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population.

    Science.gov (United States)

    Pimentel-Santos, F M; Matos, M; Ligeiro, D; Mourão, A F; Ribeiro, C; Costa, J; Santos, H; Barcelos, A; Pinto, P; Cruz, M; Sousa, E; Santos, R A; Fonseca, J E; Trindade, H; Guedes-Pinto, H; Branco, J C

    2013-12-01

    Human leukocyte antigen (HLA)-B27 is the mostly known major histocompatibility complex (MHC) gene associated with ankylosing spondylitis (AS). Nonetheless, there is substantial evidence that other MHC genes appear to be associated with the disease, although it has not yet been established whether these associations are driven by direct associations or by linkage disequilibrium (LD) mechanisms. We aimed to investigate the contributions of HLA class I and II alleles and B27-haplotypes for AS in a case-control study. A total of 188 HLA-B27 AS cases and 189 HLA-B27 healthy controls were selected and typed for HLA class I and II by the Luminex polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. Allelic and haplotypic distributions were estimated by maximum likelihood method using Arlequin v3.11 and statistical analysis were performed by Stata10.1. No associations were found between non-HLA-B27 loci and AS susceptibility, but several associations were observed for phenotypic features of the disease. DRB1*08 was identified as a risk factor for uveitis and DQB1*04 seems to provide protection for AS severity (functional, metrological and radiological indexes). A*02/B27/C*02/DRB1*01/DQB1*05 [P<0.0001; odds ratio (OR) = 39.06; 95% confidence interval (CI) (2.34-651)] is the only haplotype that seems to confer susceptibility to AS. Moreover, the haplotype A*02/B27/C*01/DRB1*08/DQB1*04 seems to provide protection for disease functional and radiological repercussions. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 might play some role in AS susceptibility and severity. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Association of polymorphism in TP53 gene with susceptibility and radiation sensitivity of non-small-cell-lung cancer in Chinese population

    International Nuclear Information System (INIS)

    Shao Guoguang; Liu Linlin; Xu Chuanjie

    2005-01-01

    Objective: To study the association of polymorphism in TP53 gene with the susceptibility and radiation sensitivity of non-small-cell-lung cancer (NSCLC) of the population in the North of China. Methods: Using RFLP-PCR assays, TP53 genotypes were detected by amplifying DNA fragments with sequence specific primers and digested by FnuD II enzyme in 88 patients with NSCLC as well as 112 healthy controls. Results: The C/C allele frequency was significantly higher in NSCLC patients than that in the healthy controls (χ 2 =5.65, P=0.017). The C/C genotype frequency was significantly higher in NSCLC patients than that of the healthy controls (χ 2 =9.33, P=0.0023). The risk of C/C homozygotes in NSCLC patients was about 2.7 times against G/G homozygotes with odds ratio of 2.43(95% CI=1.32-4.51). Conclusion: In the population in the North of China, TP53 C/C genotype is closely associated with the susceptibility of NSCLC. There is no significant relationship between the polymorphism in TP53 gene and radiation sensitivity in NSCLC. (authors)

  7. Genetic association of rs1520333 G/A polymorphism in the IL7 gene with multiple sclerosis susceptibility in Isfahan population

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    Reza Ghavimi

    2014-01-01

    The purpose of the present study is to explore the association of rs1520333 C/T polymorphism in the IL7 gene variants with the risk of MS in a subset of Iranian population. Materials and Methods: In this case - control study, 110 cases with MS and 110 controls were contributed. DNA was extracted from blood samples and to amplify the fragment of interest contain rs1520333 SNP, polymerase chain reaction - restriction fragment length polymorphism method was implemented for genotyping of the DNA samples with a specific restriction enzyme (MwoI. SPSS for Windows software (version 18.0; SPSS, Chicago, IL, USA was used for statistical analysis. Result: We demonstrated the important association between G allele [odds ratio (OR =1.6614, confidence interval (CI =1.12-2.47, P = 0.0124] and GG genotype (OR = 7.45, 95% CI = 2.13-25.97, P 0.0016 of the rs1520333 SNP for susceptibility to MS after adjustment for age, and gender. OR adjusted for age, gender, and body mass index has displayed similar outcomes. Conclusion: These results indicate that the rs1520333 SNP is a significant susceptibility gene variant for development of MS in the Iranian population. Nevertheless, functional studies are required to completely elucidate how this SNP contributed to MS pathogenesis.

  8. Toxicological, Enzymatic, and Molecular Assessment of the Insecticide Susceptibility Profile of Triatoma infestans (Hemiptera: Reduviidae, Triatominae) Populations From Rural Communities of Santa Cruz, Bolivia.

    Science.gov (United States)

    Santo-Orihuela, Pablo L; Vassena, Claudia V; Carvajal, Guillermo; Clark, Eva; Menacho, Silvio; Bozo, Ricardo; Gilman, Robert H; Bern, Caryn; Marcet, Paula L

    2017-01-01

    A wide range of insecticide resistance profiles has been reported across Bolivian domestic and sylvatic populations of Triatoma infestans (Klug, 1834) (Hemiptera, Reduviidae), including some with levels proven to be a threat for vector control. In this work, the insecticide profile of domestic T. infestans was studied with standardized toxicological bioassays, in an area that has not undergone consistent vector control. F1 first-instar nymphs hatched in laboratory from bugs captured in three communities from the Santa Cruz Department were evaluated with different insecticides. Moreover, the enzymatic activity of esterases and cytochrome P450 monooxygenases was measured in individual insects to evaluate the possible mechanism of metabolic resistance to pyrethroids. In addition, the DNA sequence of sodium channel gene (kdr) was screened for two point mutations associated with pyrethroid resistance previously reported in T. infestans.All populations showed reduced susceptibility to deltamethrin and α-cypermethrin, albeit the RR50 values varied significantly among them. Increased P450 monooxygenases and permethrate esterases suggest the contribution, as detoxifying mechanisms, to the observed resistance to deltamethrin in all studied populations. No individuals presented either mutation associated to resistance in the kdr gene. The level of susceptibility to α-cypermethrin, the insecticide used by the local vector control program, falls within an acceptable range to continue its use in these populations. However, the observed RR50 values evidence the possibility of selection for resistance to pyrethroids, especially to deltamethrin. Consequently, the use of pyrethroid insecticides should be closely monitored in these communities, which should be kept under entomological surveillance and sustained interventions. © The Authors 2016. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email

  9. Replication and Relevance of Multiple Susceptibility Loci Discovered from Genome Wide Association Studies for Type 2 Diabetes in an Indian Population.

    Directory of Open Access Journals (Sweden)

    Nagaraja M Phani

    Full Text Available Several genetic variants for type 2 diabetes (T2D have been identified through genome wide association studies (GWAS from Caucasian population; however replication studies were not consistent across various ethnicities. Objective of the current study is to examine the possible correlation of 9 most significant GWAS single nucleotide polymorphisms (SNPs for T2D susceptibility as well as the interactive effect of these variants on the risk of T2D in an Indian population.Case-control cohorts of 1156 individuals were genotyped for 9 SNPs from an Indian population. Association analyses were performed using logistic regression after adjusting for covariates. Multifactor dimensionality reduction (MDR analysis was adopted to determine gene-gene interactions and discriminatory power of combined SNP effect was assessed by grouping individuals based on the number of risk alleles and by calculating area under the receiver-operator characteristic curve (AUC.We confirm the association of TCF7L2 (rs7903146 and SLC30A8 (rs13266634 with T2D. MDR analysis showed statistically significant interactions among four SNPs of SLC30A8 (rs13266634, IGF2BP2 (rs4402960, HHEX (rs1111875 and CDKN2A (rs10811661 genes. Cumulative analysis showed an increase in odds ratio against the baseline group of individuals carrying 5 to 6 risk alleles and discriminatory power of genetic test based on 9 variants showed higher AUC value when analyzed along with body mass index (BMI.These results provide a strong evidence for independent association between T2D and SNPs for in TCF7L2 and SLC30A8. MDR analysis demonstrates that independently non-significant variants may interact with one another resulting in increased disease susceptibility in the population tested.

  10. Genetic variants in microsomal epoxide hydrolase and N-acetyltransferase 2 in susceptibility of IBD in the Danish population

    DEFF Research Database (Denmark)

    Ernst, Anja; Andersen, Vibeke; Østergaard, Mette

    , or severity of disease measured either as need for surgery or azathioprine treatment. Smoking was found to be a risk factor of CD (OR=1.8(1.4; 2.3) Pfactor regarding UC (0.7 (0.5-0.9) P=0.02) which is in agreement with previous findings in other study...... induce or sustain an immune response. Changes in detoxification of substances that causes epithelial damage may confer susceptibility to IBD. Hence, polymorphic enzymes involved in the detoxification processes may be risk factors of IBD. Methods. The two biotransformation enzymes microsomal epoxide...... hydrolase and N-acetyltransferase 2 were genotyped using TaqMan based Real-Time PCR in 388 patients with Crohn's disease (CD), 565 patients with ulcerative colitis (UC) and 796 healthy Danish controls. Results. No association was found between low microsomal epoxide hydrolase activity or slow N...

  11. Genotyping and drug susceptibility testing of mycobacterial isolates from population-based tuberculosis prevalence survey in Ghana.

    Science.gov (United States)

    Addo, Kennedy Kwasi; Addo, Samuel Ofori; Mensah, Gloria Ivy; Mosi, Lydia; Bonsu, Frank Adae

    2017-12-02

    Mycobacterium tuberculosis complex (MTBC) and Non-tuberculosis Mycobacterium (NTM) infections differ clinically, making rapid identification and drug susceptibility testing (DST) very critical for infection control and drug therapy. This study aims to use World Health Organization (WHO) approved line probe assay (LPA) to differentiate mycobacterial isolates obtained from tuberculosis (TB) prevalence survey in Ghana and to determine their drug resistance patterns. A retrospective study was conducted whereby a total of 361 mycobacterial isolates were differentiated and their drug resistance patterns determined using GenoType Mycobacterium Assays: MTBC and CM/AS for differentiating MTBC and NTM as well MTBDRplus and NTM-DR for DST of MTBC and NTM respectively. Out of 361 isolates, 165 (45.7%) MTBC and 120 (33.2%) NTM (made up of 14 different species) were identified to the species levels whiles 76 (21.1%) could not be completely identified. The MTBC comprised 161 (97.6%) Mycobacterium tuberculosis and 4 (2.4%) Mycobacterium africanum. Isoniazid and rifampicin monoresistant MTBC isolates were 18/165 (10.9%) and 2/165(1.2%) respectively whiles 11/165 (6.7%) were resistant to both drugs. Majority 42/120 (35%) of NTM were M. fortuitum. DST of 28 M. avium complex and 8 M. abscessus complex species revealed that all were susceptible to macrolides (clarithromycin, azithromycin) and aminoglycosides (kanamycin, amikacin, and gentamicin). Our research signifies an important contribution to TB control in terms of knowledge of the types of mycobacterium species circulating and their drug resistance patterns in Ghana.

  12. Polymorphism in the KCNA3 Gene Is Associated with Susceptibility to Autoimmune Pancreatitis in the Japanese Population

    Directory of Open Access Journals (Sweden)

    Masao Ota

    2011-01-01

    Full Text Available Autoimmune pancreatitis (AIP, characterized by irregular narrowing of the main pancreatic duct, swelling of the pancreas, and histological evidence of lymphoplasmacytic inflammation by high serum immunoglobulin G4, is distinct from ordinary pancreatitis. However, genetic factors involved in the etiology and pathophysiology of AIP remain unclear. Sixty-four patients with autoimmune pancreatitis (53 men, 11 women; mean age, 62.4 years and 104 healthy Japanese controls were enrolled in this study. We performed an association analysis using 400 microsatellite markers with an average spacing of 10.8 cM in the genome. We also evaluated the association of AIP with seven single nucleotide polymorphisms (SNPs within the 20-kb region around the potassium voltage-gated channel, shaker-related subfamily, member 3 gene (KCNA3. We identified six statistically significant markers (D1S2726, D5S410, D6S460, D10S548, D15S128, and D20S186; P < 0.05 related to susceptibility. The surrounding region showing the strong association (P = 7.4 × 10−7, Pc = 0.0015 contained the KCNA3 gene. Further analysis by SNP genotyping in KCNA3 gene revealed that four SNPs (rs2840381, rs1058184, rs2640480, rs1319782 were significantly associated with the AIP susceptibility (P < 0.007. KCNA3 is known to be involved in immunomodulation of autoreactive effector and memory T cell–mediated autoimmune diseases. Our findings provide the first evidence that KCNA3 is associated with AIP and suggest that KCNA3 may influence the risk for AIP.

  13. Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.

    Science.gov (United States)

    Zhan, Ming; Chen, Gang; Pan, Chun-Ming; Gu, Zhao-Hui; Zhao, Shuang-Xia; Liu, Wei; Wang, Hai-Ning; Ye, Xiao-Ping; Xie, Hui-Jun; Yu, Sha-Sha; Liang, Jun; Gao, Guan-Qi; Yuan, Guo-Yue; Zhang, Xiao-Mei; Zuo, Chun-Lin; Su, Bin; Huang, Wei; Ning, Guang; Chen, Sai-Juan; Chen, Jia-Lun; Song, Huai-Dong

    2014-10-15

    Thyroid-stimulating hormone (TSH) is a sensitive indicator of thyroid function. High and low TSH levels reflect hypothyroidism and hyperthyroidism, respectively. Even within the normal range, small differences in TSH levels, on the order of 0.5-1.0 mU/l, are associated with significant differences in blood pressure, BMI, dyslipidemia, risk of atrial fibrillation and atherosclerosis. Most of the variance in TSH levels is thought to be genetically influenced. We conducted a genome-wide association study of TSH levels in 1346 Chinese Han individuals. In the replication study, we genotyped four candidate SNPs with the top association signals in an independent isolated Chinese She cohort (n = 3235). We identified a novel serum TSH susceptibility locus within XKR4 at 8q12.1 (rs2622590, Pcombined = 2.21 × 10(-10)), and we confirmed two previously reported TSH susceptibility loci near FOXE1 at 9q22.33 and near CAPZB at 1p36.13, respectively. The rs2622590_T allele at XKR4 and the rs925489_C allele near FOXE1 were correlated with low TSH levels and were found to be nominally associated to patients with papillary thyroid carcinoma (PTC) (OR = 1.41, P= 0.014 for rs2622590_T, and OR = 1.61, P= 0.030 for rs925489_C). The rs2622590 and rs925489 genotypes were also correlated with the expression levels of FOXE1 and XKR4, respectively, in PTC tissues (P = 2.41 × 10(-4) and P= 0.02). Our findings suggest that the SNPs in XKR4 and near FOXE1 are involved in the regulation of TSH levels. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

    Science.gov (United States)

    Brandom, Barbara W; Bina, Saiid; Wong, Cynthia A; Wallace, Tarina; Visoiu, Mihaela; Isackson, Paul J; Vladutiu, Georgirene D; Sambuughin, Nyamkhishig; Muldoon, Sheila M

    2013-05-01

    Mutations in the ryanodine receptor type 1 gene (RYR1) that encodes the skeletal muscle-specific intracellular calcium (Ca(2+)) release channel are a cause of malignant hyperthermia (MH). In this study, we examined RYR1 mutations in a large number of North American MH-susceptible (MHS) subjects without prior genetic diagnosis. RYR1 was examined in 120 unrelated MHS subjects from the United States in a tiered manner. The α-1 subunit of the dihydropyridine receptor gene (CACNA1S) was screened for 4 variants in subjects in whom no abnormality was found in ≥ 100 exons of RYR1. Ten known causative MH mutations were found in 26 subjects. Variants of uncertain significance in RYR1 were found in 36 subjects, 16 of which are novel. Novel variants in both RYR1 and CACNA1S were found in the 1 subject who died of MH. Two RYR1 variants were found in 4 subjects. Variants of uncertain significance were found outside and inside the hotspots of RYR1. Maximal contractures in the caffeine-halothane contracture test were greater in those who had a known MH mutation or variant of uncertain significance in RYR1 than in those who did not. The identification of novel RYR1 variants and previously observed RYR1 variants of uncertain significance in independent MHS families is necessary for demonstrating the significance of these variants for MH susceptibility and supports the need for functional studies of these variants. Continued reporting of the clinical phenotypes of MH is necessary for interpretation of genetic findings, especially because the pathogenicity of most of these genetic variants associated with MHS remains to be elucidated.

  15. Genetic diversity of Tamarindus indica populations: Any clues on the ...

    African Journals Online (AJOL)

    Tamarindus indica is a domesticated species of high economic value for the Sahel region. Despite this importance, very few data is available on its diversity as well as its structure leading to controversial discussions on its origin. Thus it is questionable whether the knowledge of its genetic diversity and organisation may ...

  16. High-Resolution Genome-Wide Linkage Mapping Identifies Susceptibility Loci for BMI in the Chinese Population

    DEFF Research Database (Denmark)

    Zhang, Dong Feng; Pang, Zengchang; Li, Shuxia

    2012-01-01

    The genetic loci affecting the commonly used BMI have been intensively investigated using linkage approaches in multiple populations. This study aims at performing the first genome-wide linkage scan on BMI in the Chinese population in mainland China with hypothesis that heterogeneity in genetic...... linkage could exist in different ethnic populations. BMI was measured from 126 dizygotic twins in Qingdao municipality who were genotyped using high-resolution Affymetrix Genome-Wide Human SNP arrays containing about 1 million single-nucleotide polymorphisms (SNPs). Nonparametric linkage analysis...... in western countries. Multiple loci showing suggestive linkage were found on chromosome 1 (lod score 2.38 at 242 cM), chromosome 8 (2.48 at 95 cM), and chromosome 14 (2.2 at 89.4 cM). The strong linkage identified in the Chinese subjects that is consistent with that found in populations of European origin...

  17. "Population structure of drug-susceptible, -resistant and ESBL-producing Escherichia coli from community-acquired urinary tract infections"

    DEFF Research Database (Denmark)

    Hertz, Frederik Boetius; Nielsen, Jesper Boye; Schønning, Kristian

    2016-01-01

    BACKGROUND: Escherichia coli is the most common cause of urinary tract infection (UTI). The pathogenic isolates are becoming increasingly resistant to antibiotics; with a worldwide dissemination of resistant sequence types (ST). We characterized three different uropathogenic E. coli populations...

  18. CLUE: cluster-based retrieval of images by unsupervised learning.

    Science.gov (United States)

    Chen, Yixin; Wang, James Z; Krovetz, Robert

    2005-08-01

    In a typical content-based image retrieval (CBIR) system, target images (images in the database) are sorted by feature similarities with respect to the query. Similarities among target images are usually ignored. This paper introduces a new technique, cluster-based retrieval of images by unsupervised learning (CLUE), for improving user interaction with image retrieval systems by fully exploiting the similarity information. CLUE retrieves image clusters by applying a graph-theoretic clustering algorithm to a collection of images in the vicinity of the query. Clustering in CLUE is dynamic. In particular, clusters formed depend on which images are retrieved in response to the query. CLUE can be combined with any real-valued symmetric similarity measure (metric or nonmetric). Thus, it may be embedded in many current CBIR systems, including relevance feedback systems. The performance of an experimental image retrieval system using CLUE is evaluated on a database of around 60,000 images from COREL. Empirical results demonstrate improved performance compared with a CBIR system using the same image similarity measure. In addition, results on images returned by Google's Image Search reveal the potential of applying CLUE to real-world image data and integrating CLUE as a part of the interface for keyword-based image retrieval systems.

  19. Fine-mapping the MHC region in Asian populations identified novel variants modifying susceptibility to lung cancer.

    Science.gov (United States)

    Qin, Na; Wang, Cheng; Zhu, Meng; Lu, Qun; Ma, Zijian; Huang, Mingtao; Dai, Juncheng; Ma, Hongxia; Jin, Guangfu; Hu, Zhibin; Shen, Hongbing

    2017-10-01

    The polymorphic major histocompatibility complex (MHC) plays a vital role in the immune system and drives predisposition to multiple cancers. A number of lung cancer-related genetic variants in the MHC have been identified in recent genome-wide association studies; however, the causal variants remain unclear. In the present study, we conducted a large-scale fine-mapping study of lung cancer in the MHC region of 13,945 unrelated Asian individuals to search for potential causal variants. We used the recently constructed Pan-Asian panel as the reference and imputed eight HLA genes (HLA-A, HLC-B, HLA-C, HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1) using SNP2HLA software. We identified one single nucleotide polymorphism, rs12333226 (OR=1.41, P=3.97×10 -7 ), five HLA amino acid polymorphisms in HLA-DRB1 (OR=0.89, P=7.51×10 -6 -8.57×10 -6 ), and one two-digit classic HLA allele HLA-A*11 (OR=0.87, P=9.68×10 -6 ) that were strongly associated with the risk of lung cancer. Rs12333226 was an expression quantitative trait locus of HLA-A and HLA-H in circulating monocytes, and exerted effect on lung cancer risk especially in the younger. HLA-DRβ1 positions 10, 16, and 25 drove the effect of one reported SNP rs2395185. The peptide position analysis identified additional lung cancer susceptibility amino acid positions, including HLA-DRβ1 position 30 and 11 (P omnibus =6.11×10 -5 and 6.91×10 -5 ), HLA-DQa1 47 and 76 (P omnibus =3.96×10 -4 and 1.41×10 -2 ) and HLA-A 152 (P omnibus =4.86×10 -4 ). Most of the peptide positions were located in the peptide-binding grooves and seemed to affect antigen presentation. All the existing and novel variants explained approximately 2.37% of the phenotypic variances, while 21.10% was attributed to the variants identified in this study. We identified seven novel bi-allelic variants and five polymorphic amino acid positions in HLA-DRβ1, HLA-DQα1, and HLA-A that confer a risk of lung cancer. This finding provides evidence for

  20. Comparison of tau-fluvalinate, acrinathrin, and amitraz effects on susceptible and resistant populations of Varroa destructor in a vial test.

    Science.gov (United States)

    Kamler, Martin; Nesvorna, Marta; Stara, Jitka; Erban, Tomas; Hubert, Jan

    2016-05-01

    The parasitic mite Varroa destructor is a major pest of the western honeybee, Apis mellifera. The development of acaricide resistance in Varroa populations is a global issue. Discriminating concentrations of acaricides are widely used to detect pest resistance. Two methods, using either glass vials or paraffin capsules, are used to screen for Varroa resistance to various acaricides. We found the glass vial method to be useless for testing Varroa resistance to acaridices, so we developed a polypropylene vial bioassay. This method was tested on tau-fluvalinate-, acrinathrin-, and amitraz-resistant mite populations from three apiaries in Czechia. Acetone was used as a control and technical grade acaricide compounds diluted in acetone were applied to the polypropylene vials. The solutions were spread on the vial surface by rolling the vial, and were then evaporated. Freshly collected Varroa females were placed in the vials and the mortality of the exposed mites was measured after 24 h. The Varroa populations differed in mortality between the apiaries and the tested compounds. Mites from the Kyvalka site were resistant to acrinathrin, tau-fluvalinate, and amitraz, while mites from the Postrizin site were susceptible to all three acaricides. In Prelovice apiary, the mites were susceptible to acrinathrin and amitraz, but not to tau-fluvalinate. The calculated discriminating concentrations for tau-fluvalinate, acrinathrin, and amitraz were 0.66, 0.26 and 0.19 µg/mL, respectively. These results indicate that polyproplyne vial tests can be used to determine discriminating concentrations for the early detection of acaricide resistant Varroa. Finally, multiple-resistance in Kyvalka may indicate metabolic resistance.

  1. [Correlation between HLA-DB1 genes and susceptibility to echinococcosis in Tibetan population in Tibetan Plateau].

    Science.gov (United States)

    Shu-Feng, Gao; Xiu-Min, Han; Xue-Fei, Zhang; Yong-Shun, Wang; Wei, Wang; Ya-Min, Guo; Yong-Shou, Li

    2017-10-23

    To determine the susceptibility genes and resistance genes in HLA-DRB1 alleles in Tibetan patients with cystic and alveolar hydatid diseases, so as to provide the references for the research of the genetic characteristics and infection mechanism of Tibetan hydatid diseases. The case control method was applied. The Tibetan patients with cystic and alveolar hydatid diseases (63 and 73 cases respectively) in Yushu and Guoluo Tibetan Autonomous Prefecture, and unrelated healthy people (60 cases) in this area were selected as the study subjects. The polymerase chain reaction-sequence based typing (PCR-SBT) technique was applied for genotyping of HLA-DRB1, and the comparison of the gene frequency. The frequency of HLA-DRB1*04 in the alveolar/cystic echinococcosis group was lower than that in the control group ( χ 2 = 4.71, 4.31, both P < 0.05). HLA-DRB1*04 genotypes may be associated with the resistance of cystic and alveolar echinococcosis and its resistance genes.

  2. Air pollution and mortality in São Paulo, Brazil: Effects of multiple pollutants and analysis of susceptible populations.

    Science.gov (United States)

    Bravo, Mercedes A; Son, Jiyoung; de Freitas, Clarice Umbelino; Gouveia, Nelson; Bell, Michelle L

    2016-01-01

    Health impacts of air pollution may differ depending on sex, education, socioeconomic status (SES), location at time of death, and other factors. In São Paulo, Brazil, questions remain regarding roles of individual and community characteristics. We estimate susceptibility to air pollution based on individual characteristics, residential SES, and location at time of death (May 1996-December 2010). Exposures for particulate matter with an aerodynamic diameter ≤ 10 μm (PM10), nitrogen dioxide (NO2), sulfur dioxide (SO2), carbon monoxide (CO), and ozone (O3) were estimated using ambient monitors. Time-stratified case-crossover analysis was used with individual-level health data. Increased risk of non-accidental, cardiovascular, and respiratory mortality were associated with all pollutants (P 11 years education were lower than estimates for those with 0 years education for NO2, SO2, and CO (1.66% (95% confidence interval: 0.23%, 3.08%); 1.51% (0.51%, 2.51%); and 2.82% (0.23%, 5.35%), respectively). PM10 cardiovascular mortality effects were (3.74% (0.044%, 7.30%)) lower for the high education group (> 11 years) compared with the no education group. Positive, significant associations between pollutants and mortality were observed for in-hospital deaths, but evidence of differences in air pollution-related mortality risk by location at time of death was not strong.

  3. Genetic polymorphism of CCL2-2510 and susceptibility to enterovirus 71 encephalitis in a Chinese population.

    Science.gov (United States)

    Han, Zhen-liang; Li, Ji-an; Chen, Zong-bo

    2014-09-01

    The study was performed in 36 Chinese patients with enterovirus 71 (EV71) encephalitis and 141 patients with EV71-related hand, foot and mouth disease (HFMD) without encephalitis. Genotyping was done by the polymerase chain reaction-restriction fragment length polymorphism technique. Patients with EV71 encephalitis had a significantly higher frequency of the CCL2-2510GG genotypes when compared to patients with EV71-related HFMD without encephalitis (66.7% vs. 41.8%, p=0.028). The frequency of CCL2-2510G alleles was also significantly higher among the patients with EV71 encephalitis than among patients with EV71-related HFMD without encephalitis (79.2% vs. 64.9%, OR=2.1, 95% CI=1.1-3.8, P=0.023). Significant differences were found in gender, age, fever days, white blood cell count, C-reactive protein level, blood glucose concentration, and CCL2 level among genotypes of CCL2-2510A/G in EV71-infected patients, but no significant differences were found in alanine aminotransferase, aspartate aminotransferase, or creatine kinase myocardial isozyme levels or in cerebrospinal fluid evaluations (except monocytes) in patients with EV71 encephalitis. These findings suggest that the CCL2-2510G allele is associated with susceptibility to EV71 encephalitis in Chinese patients.

  4. Copy Number Variation of HLA-DQA1 and APOBEC3A/3B Contribute to the Susceptibility of Systemic Sclerosis in the Chinese Han Population.

    Science.gov (United States)

    Guo, Shicheng; Li, Yuan; Wang, Yi; Chu, Haiyan; Chen, Yulin; Liu, Qingmei; Guo, Gang; Tu, Wenzhen; Wu, Wenyu; Zou, Hejian; Yang, Li; Xiao, Rong; Ma, Yanyun; Zhang, Feng; Xiong, Momiao; Jin, Li; Zhou, Xiaodong; Wang, Jiucun

    2016-05-01

    Systemic sclerosis (SSc) is a systemic connective tissue disease caused by a genetic aberrant. The involvement of the copy number variations (CNV) in the pathogenesis of SSc is unclear. We tried to identify some CNV that are involved with the susceptibility to SSc. A genome-wide CNV screening was performed in 20 patients with SSc. Five SSc-associated common CNV that included HLA-DRB5, HLA-DQA1, IRGM, CDC42EP3, and APOBEC3A/3B were identified from the screening and were then validated in 365 patients with SSc and 369 matched healthy controls. Three hundred forty-four CNV (140 gains and 204 losses) and 2 CNV hotspots (6q21.3 and 22q11.2) were found in the SSc genomes (covering 24.2 megabases), suggesting that CNV were ubiquitous in the SSc genome and played important roles in the pathogenesis of SSc. The high copy number of HLA-DQA1 was a significantly protective factor for SSc (OR 0.07, p = 2.99 × 10(-17)), while the high copy number of APOBEC3A/B was a significant risk factor (OR 3.45, p = 6.4 × 10(-18)), adjusted with sex and age. The risk prediction model based on genetic factors in logistic regression showed moderate prediction ability, with area under the curve = 0.80 (95% CI 0.77-0.83), which demonstrated that APOBEC3A/B and HLA-DQA1 were powerful biomarkers for SSc risk evaluation and contributed to the susceptibility to SSc. CNV of HLA-DQA1 and APOBEC3A/B contribute to the susceptibility to SSc in a Chinese Han population.

  5. The Electrogenic Na+/K+ Pump Is a Key Determinant of Repolarization Abnormality Susceptibility in Human Ventricular Cardiomyocytes: A Population-Based Simulation Study

    Directory of Open Access Journals (Sweden)

    Oliver J. Britton

    2017-05-01

    Full Text Available Background: Cellular repolarization abnormalities occur unpredictably due to disease and drug effects, and can occur even in cardiomyocytes that exhibit normal action potentials (AP under control conditions. Variability in ion channel densities may explain differences in this susceptibility to repolarization abnormalities. Here, we quantify the importance of key ionic mechanisms determining repolarization abnormalities following ionic block in human cardiomyocytes yielding normal APs under control conditions.Methods and Results: Sixty two AP recordings from non-diseased human heart preparations were used to construct a population of human ventricular models with normal APs and a wide range of ion channel densities. Multichannel ionic block was applied to investigate susceptibility to repolarization abnormalities. IKr block was necessary for the development of repolarization abnormalities. Models that developed repolarization abnormalities over the widest range of blocks possessed low Na+/K+ pump conductance below 50% of baseline, and ICaL conductance above 70% of baseline. Furthermore, INaK made the second largest contribution to repolarizing current in control simulations and the largest contribution under 75% IKr block. Reversing intracellular Na+ overload caused by reduced INaK was not sufficient to prevent abnormalities in models with low Na+/K+ pump conductance, while returning Na+/K+ pump conductance to normal substantially reduced abnormality occurrence, indicating INaK is an important repolarization current.Conclusions: INaK is an important determinant of repolarization abnormality susceptibility in human ventricular cardiomyocytes, through its contribution to repolarization current rather than homeostasis. While we found IKr block to be necessary for repolarization abnormalities to occur, INaK decrease, as in disease, may amplify the pro-arrhythmic risk of drug-induced IKr block in humans.

  6. The Electrogenic Na+/K+ Pump Is a Key Determinant of Repolarization Abnormality Susceptibility in Human Ventricular Cardiomyocytes: A Population-Based Simulation Study.

    Science.gov (United States)

    Britton, Oliver J; Bueno-Orovio, Alfonso; Virág, László; Varró, András; Rodriguez, Blanca

    2017-01-01

    Background: Cellular repolarization abnormalities occur unpredictably due to disease and drug effects, and can occur even in cardiomyocytes that exhibit normal action potentials (AP) under control conditions. Variability in ion channel densities may explain differences in this susceptibility to repolarization abnormalities. Here, we quantify the importance of key ionic mechanisms determining repolarization abnormalities following ionic block in human cardiomyocytes yielding normal APs under control conditions. Methods and Results: Sixty two AP recordings from non-diseased human heart preparations were used to construct a population of human ventricular models with normal APs and a wide range of ion channel densities. Multichannel ionic block was applied to investigate susceptibility to repolarization abnormalities. I Kr block was necessary for the development of repolarization abnormalities. Models that developed repolarization abnormalities over the widest range of blocks possessed low Na + /K + pump conductance below 50% of baseline, and I CaL conductance above 70% of baseline. Furthermore, I NaK made the second largest contribution to repolarizing current in control simulations and the largest contribution under 75% I Kr block. Reversing intracellular Na + overload caused by reduced I NaK was not sufficient to prevent abnormalities in models with low Na + /K + pump conductance, while returning Na + /K + pump conductance to normal substantially reduced abnormality occurrence, indicating I NaK is an important repolarization current. Conclusions: I NaK is an important determinant of repolarization abnormality susceptibility in human ventricular cardiomyocytes, through its contribution to repolarization current rather than homeostasis. While we found I Kr block to be necessary for repolarization abnormalities to occur, I NaK decrease, as in disease, may amplify the pro-arrhythmic risk of drug-induced I Kr block in humans.

  7. Whole Genome Association Study in a Homogenous Population in Shandong Peninsula of China Reveals JARID2 as a Susceptibility Gene for Schizophrenia

    Directory of Open Access Journals (Sweden)

    Yang Liu

    2009-01-01

    Full Text Available DNA pooling can provide an economic and efficient way to detect susceptibility loci to complex diseases. We carried out a genome screen with 400 microsatellite markers spaced at approximately 10 cm in two DNA pools consisting of 119 schizophrenia (SZ patients and 119 controls recruited from a homogenous population in the Chang Le area of the Shandong peninsula of China. Association of D6S289, a dinucleotide repeat polymorphism in the JARID2 gene with SZ, was found and confirmed by individual genotyping (X2=17.89; P=.047. In order to refine the signal, we genotyped 14 single nucleotide polymorphisms (SNPs covering JARID2 and the neighboring gene, DNTBP1, in an extended sample of 309 cases and 309 controls from Shandong peninsula (including the samples from the pools. However, rs2235258 and rs9654600 in JARID2 showed association in allelic, genotypic and haplotypic tests with SZ patients from Chang Le area. This was not replicates in the extended sample, we conclude that JARID2 could be a susceptibility gene for SZ.

  8. Prevalence of diphtheria and tetanus antibodies among adults in Singapore: a national serological study to identify most susceptible population groups.

    Science.gov (United States)

    Ang, L W; James, L; Goh, K T

    2016-03-01

    In view of waning antitoxin titres over time after the last vaccine dose against diphtheria and tetanus, we determined the immunity levels in adults to identify most susceptible groups for protection in Singapore. Our study involved residual sera from 3293 adults aged 18-79 who had participated in a national health survey in 2010. IgG antibody levels were determined using commercial enzyme-linked immunosorbent assay. Overall, 92.0% (95% confidence interval [CI]: 91.1-92.9%) had at least basic protection against diphtheria (antibody levels ≥0.01 IU/ml), while 71.4% (95% CI: 69.8-72.9%) had at least short-term protection against tetanus (antibody levels >0.1 IU/ml). The seroprevalence declined significantly with age for both diseases; the drop was most marked in the 50- to 59-year age group for diphtheria and 60- to 69-year age group for tetanus. There was a significant difference in seroprevalence by residency for diphtheria (92.8% among Singapore citizens versus 87.1% among permanent residents; P = 0.001). The seroprevalence for tetanus was significantly higher among males (83.2%) than females (62.4%) (P < 0.0005). It may be of value to consider additional vaccination efforts to protect older adults at higher risk for exposure against diphtheria and tetanus, particularly those travelling to areas where diphtheria is endemic or epidemic. © The Author 2015. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. A Large Proportion of the Mexican Population Remained Susceptible to A(H1N1)pdm09 Infection One Year after the Emergence of 2009 Influenza Pandemic.

    Science.gov (United States)

    Veguilla, Vic; López-Gatell, Hugo; López-Martínez, Irma; Aparicio-Antonio, Rodrigo; Barrera-Badillo, Gisela; Rojo-Medina, Julieta; Gross, Felicia Liaini; Jefferson, Stacie N; Katz, Jacqueline M; Hernández-Ávila, Mauricio; Alpuche-Aranda, Celia M

    2016-01-01

    The 2009 H1N1 influenza pandemic initially affected Mexico from April 2009 to July 2010. By August 2010, a fourth of the population had received the monovalent vaccine against the pandemic virus (A(H1N1)pdm09). To assess the proportion of the Mexican population who remained potentially susceptible to infection throughout the summer of 2010, we estimated the population seroprevalence to A(H1N1)pdm09 in a serosurvey of blood donors. We evaluated baseline cross-reactivity to the pandemic strain and set the threshold for seropositivity using pre-pandemic (2005-2008) stored serum samples and sera from confirmed A(H1N1)pdm09 infected individuals. Between June and September 2010, a convenience sample serosurvey of adult blood donors, children, and adolescents was conducted in six states of Mexico. Sera were tested by the microneutralization (MN) and hemagglutination inhibition (HI) assays, and regarded seropositive if antibody titers were equal or exceeded 1:40 for MN and 1:20 for HI. Age-standardized seroprevalence were calculated using the 2010 National Census population. Sera from 1,484 individuals were analyzed; 1,363 (92%) were blood donors, and 121 (8%) children or adolescents aged ≤19 years. Mean age (standard deviation) was 31.4 (11.5) years, and 276 (19%) were women. A total of 516 (35%) participants declared history of influenza vaccination after April 2009. The age-standardized seroprevalence to A(H1N1)pdm09 was 48% by the MN and 41% by the HI assays, respectively. The youngest quintile, aged 1 to 22 years, had the highest the seroprevalence; 61% (95% confidence interval [CI]: 56, 66%) for MN, and 56% (95% CI: 51, 62%) for HI. Despite high transmission of A(H1N1)pdm09 observed immediately after its emergence and extensive vaccination, over a half of the Mexican population remained potentially susceptible to A(H1N1)pdm09 infection. Subsequent influenza seasons with high transmission of A(H1N1)pdm09, as 2011-2012 and 2013-2014, are compatible with these

  10. Another Round of "Clue" to Uncover the Mystery of Complex Traits.

    Science.gov (United States)

    Verma, Shefali Setia; Ritchie, Marylyn D

    2018-01-25

    A plethora of genetic association analyses have identified several genetic risk loci. Technological and statistical advancements have now led to the identification of not only common genetic variants, but also low-frequency variants, structural variants, and environmental factors, as well as multi-omics variations that affect the phenotypic variance of complex traits in a population, thus referred to as complex trait architecture. The concept of heritability, or the proportion of phenotypic variance due to genetic inheritance, has been studied for several decades, but its application is mainly in addressing the narrow sense heritability (or additive genetic component) from Genome-Wide Association Studies (GWAS). In this commentary, we reflect on our perspective on the complexity of understanding heritability for human traits in comparison to model organisms, highlighting another round of clues beyond GWAS and an alternative approach, investigating these clues comprehensively to help in elucidating the genetic architecture of complex traits.

  11. [Susceptibility of populations of Simulium (Chirostilbia) pertinax Kollar, 1832 (Culicomorpha, Simuliidae) to eemephos and to Bacillus thuringiensis var. israelensis-based formulation].

    Science.gov (United States)

    de Andrade, C F; Castello Branco Júnior, A

    1991-10-01

    The use of wooden troughs on stream beds, artificially colonized by blackfly larvae, is proposed for larvicide evaluations. Mortality was recorded 3 or 4 hours after treatment. Larval susceptibility was also evaluated utilizing the LT50 criterion. In there field assays Simulium (C.) pertinax populations from the litoral of S. Paulo and Rio de Janeiro States were shown to be resistant to temephos, even when subjected to high concentrations. Vectobac 12 AS, a Bacillus thuringiensis var. israelensis product, was shown to be more potent against late instar larvae and efficient in concentrations higher than 7,200 ITU/l (10 min). The LT50 to 3,744 ITU/l (10 min) was calculated as 70.9 min.

  12. [Research advances in susceptible genes for developmental dyslexia in children].

    Science.gov (United States)

    Kong, Rui; Song, Ran-Ran

    2016-12-01

    Developmental dyslexia in children is one of the neurodevelopmental disorders and is affected by various susceptible genes. In recent years, researchers have found some susceptible genes for dyslexia via chromosome analysis, genome-wide association studies, association analysis, gene function research, neuroimaging, and neurophysiological techniques. This article reviews the research advances in susceptible genes for developmental dyslexia, and with the study on susceptible genes for dyslexia, it lays a foundation for in-depth studies on the "gene-brain-behavior" level and provides scientific clues for exploring etiology and pathogenesis of dyslexia.

  13. Identification of three cytochrome P450 genes in the Chagas' disease vector Triatoma infestans: Expression analysis in deltamethrin susceptible and resistant populations.

    Science.gov (United States)

    Grosso, Carla G; Blariza, María J; Mougabure-Cueto, Gastón; Picollo, María I; García, Beatriz A

    2016-10-01

    Cytochrome P450 monooxygenases play a predominant role in the metabolism of insecticides. Many insect P450 genes have frequently been associated with detoxification processes allowing the insect to become tolerant or resistant to insecticides. The increases of expression of P450 genes at transcriptional level are often consider responsible for increasing the metabolism of insecticides and seems to be a common phenomenon in the evolution of resistance development in insects. As pyrethroid resistance has been detected in Triatoma infestans, it was of interest to analyze genes associated with resistance to insecticides such as those encoding for cytochromes P450. With this purpose, the cDNA sequences of three cytochrome P450 genes (CYP4EM7, CYP3085B1, and CYP3092A6) were identified in this species. Primers and specific Taqman probes were designed from these sequences to determine their expression by quantitative PCR. The mRNA levels of the cytochrome P450 genes identified were determined from total RNA extracted from pools of fat body collected from individuals of different resistant and susceptible strains of T. infestans, and at different interval times after the topical application of the lethal doses 50% (LD50) of deltamethrin on the ventral abdomen of insects belonging to the different populations analyzed. It was detected overexpression of the CYP4EM7 gene in the most resistant strain of T. infestans and the expression of the three cytochrome P450 genes isolated was induced by deltamethrin in the susceptible and resistant populations included in this study. These results suggest that these genes would be involved in the detoxification of deltamethrin and support the hypothesis that considers to the cytochrome P450 genes of importance in the development of pyrethroid resistance. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Association of serotonin transporter gene (SLC6A4) polymorphisms with schizophrenia susceptibility and symptoms in a Chinese-Han population.

    Science.gov (United States)

    Li, Wenqiang; Yang, Yongfeng; Lin, Juntang; Wang, Shuai; Zhao, Jingyuan; Yang, Ge; Wang, Xiujuan; Ding, Minli; Zhang, Hongxing; Lv, Luxian

    2013-07-01

    Schizophrenia (SZ) is a complex psychiatric disorder with a strong genetic component. The serotonin transporter (SERT), encoded by solute carrier family 6 member 4 (SLC6A4), regulates synaptic concentrations of serotonin and thereby strongly influences perception, mood, emotion, behavior, and cognition, all of which are severely disturbed in SZ. Two variable numbers of tandem repeat (VNTR) polymorphisms and several single nucleotide polymorphisms (SNPs) spread throughout SLC6A4 are involved in both neuropsychiatric diseases (including SZ) and personality traits. In this study, case-control association analysis was performed in the Chinese-Han population to identify additional allelic variants of the SLC6A4 gene that may confer susceptibility to SZ. Ten relatively common SNPs (minor allele frequency >5%) were genotyped in 528 paranoid SZ patients and 528 control subjects. Significant associations were found between SZ and the allele and genotypic frequencies of rs140700G/A (p=2.45×10(-12), 2.34×10(-11), respectively). The frequency of the A allele was lower in SZ patients (17.7%) than in controls (30.9%; OR=1.93, 95%CI=1.58-2.36). In five factor analysis of the positive and negative syndrome scale (PANSS) scores of first episode SZ patients, mean negative factor score (F2,249=3.986, p=0.02) and depression/anxiety factor score (F2, 249=8.766, p=2.11×10(-4)) were significantly different among the rs140700G/A genotypes, with both scores higher for genotype AA than AG+GG. The rs140700G/A allele of SLC6A4 is strongly associated with SZ susceptibility and symptom expression in the Chinese-Han population. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. A functional polymorphism C-509T in TGFβ-1 promoter contributes to susceptibility and prognosis of lone atrial fibrillation in Chinese population.

    Directory of Open Access Journals (Sweden)

    Hailong Cao

    Full Text Available Transforming growth factor-β1 (TGF-β1 is an important mediator of atrial fibrosis and atrial fibrillation (AF. But the involved genetic mechanism is unknown. Herein, the TGF-β1 C-509 T polymorphism (rs1800469 was genotyped in a case-control study of 840 patients and 845 controls in Chinese population to explore the association between the polymorphism and susceptibility and prognosis of lone AF. As a result, the CT and/or TT genotypes had an increased lone AF risk [adjusted odds ratio (OR = 1.50 for CT, OR = 3.72 for TT, and OR = 2.15 for CT/TT], compared with the TGF-β1CC genotype. Moreover, patients carrying CT/TT genotypes showed a higher possibility of AF recurrence after catheter ablation, compared with patients carrying CC genotype. In a genotype-phenotype correlation analysis using 24 normal left atrial appendage samples, increasing gradients of atrial TGF-β1 expression levels positively correlated with atrial collagen volume fraction were identified in samples with CC, CT and TT genotypes. The in vitro luciferase assays also showed a higher luciferase activity of the -509 T allele than that of the -509 C allele. In conclusion, the TGF-β1 C-509 T polymorphism is involved in the etiology of lone AF and thus may be a marker for genetic susceptibility to lone AF and predicting prognosis after catheter ablation in Chinese populations. Therefore, we provide new information about treatment strategies and our understanding of TGF-β1 in AF.

  16. A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis.

    Directory of Open Access Journals (Sweden)

    Luis M Real

    Full Text Available BACKGROUND: Non-hereditary colorectal cancer (CRC is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNPs from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8, and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11. Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599, 8q24 (rs10505477, 8q24.21(rs6983267, 11q13.4 (rs3824999 and 14q22.2 (rs4444235. CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses.

  17. Replication Study Confirms the Association of the Common rs1800629 Variant of the TNF Gene with Postmenopausal Osteoporosis Susceptibility in the Han Chinese Population.

    Science.gov (United States)

    Jin, Xiaona; Zhou, Baozhen; Zhang, Dangfeng

    2018-02-26

    Previous studies have suggested that tumor necrosis factor a (TNF-a), encoded by TNF gene, can increase osteoclast formation, and that specific alleles of the TNF gene are associated with postmenopausal osteoporosis susceptibility in some populations; however, the exact molecular mechanism remains unknown. To investigate the potential association of nineteen polymorphisms of the TNF gene with postmenopausal osteoporosis and bone mineral density (BMD) traits in a sample of 1288 postmenopausal women from the Han Chinese population. A total of 437 postmenopausal osteoporosis patients and 851 unrelated age-matched healthy women were recruited in the study. Single marker and haplotype based analyses were conducted to evaluate the association of nineteen single nucleotide polymorphisms (SNPs) in both patient and control groups. The SNP rs1800629 was identified as being highly significantly associated with postmenopausal osteoporosis after accounting for age and body mass index (p = 0.000087). In addition, the GG genotype of this SNP was associated with significantly lower measures of femoral neck BMD and lumbar spine BMD. Moreover, haplotype based analyses suggested significant association signals between the haplotype block, including rs1800629 with postmenopausal osteoporosis (p osteoporosis and BMD in the female Han Chinese population. Additional sequencing-based studies are needed to investigate the genetic architecture of this genomic region and its relationship with osteoporosis-related phenotypes.

  18. [Detection of the largest population susceptible to prescription of a program of exercises in Primary Care to prevent frailty].

    Science.gov (United States)

    Rosas Hernández, Ana María; Alejandre Carmona, Sergio; Rodríguez Sánchez, Javier Enrique; Castell Alcalá, Maria Victoria; Otero Puime, Ángel

    2018-03-16

    Identify the population over 70 year's old treated in primary care who should participate in a physical exercise program to prevent frailty. Analyze the concordance among 2criteria to select the beneficiary population of the program. Population-based cross-sectional study. Primary Care. Elderly over 70 years old, living in the Peñagrande neighborhood (Fuencarral district of Madrid) from the Peñagrande cohort, who accepted to participate in 2015 (n = 332). The main variable of the study is the need for exercise prescription in people over 70 years old at the Primary Care setting. It was identified through 2different definitions: Prefrail (1-2 of 5 Fried criteria) and Independent individuals with physical performance limited, defined by Consensus on frailty and falls prevention among the elderly (independent and with a total SPPB score <10). The 63,8% of participants (n = 196) need exercise prescription based on criteria defined by Fried and/or the consensus for prevention of frailty and falls in the elderly. In 82 cases the 2criteria were met, 80 were prefrail with normal physical performance and 34 were robust with a limited physical performance. The concordance among both criteria is weak (kappa index 0, 27). Almost 2thirds of the elderly have some kind of functional limitation. The criteria of the consensus document to prevent frailty detect half of the pre-frail individuals in the community. Copyright © 2018 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Predictive Characteristics of Diabetes-Associated Autoantibodies Among Children With HLA-Conferred Disease Susceptibility in the General Population

    Science.gov (United States)

    Siljander, Heli T.A.; Simell, Satu; Hekkala, Anne; Lähde, Jyrki; Simell, Tuula; Vähäsalo, Paula; Veijola, Riitta; Ilonen, Jorma; Simell, Olli; Knip, Mikael

    2009-01-01

    OBJECTIVE As data on the predictive characteristics of diabetes-associated autoantibodies for type 1 diabetes in the general population are scarce, we assessed the predictive performance of islet cell autoantibodies (ICAs) in combination with autoantibodies against insulin (IAAs), autoantibodies against GAD, and/or islet antigen 2 for type 1 diabetes in children with HLA-defined disease predisposition recruited from the general population. RESEARCH DESIGN AND METHODS We observed 7,410 children from birth (median 9.2 years) for β-cell autoimmunity and diabetes. If a child developed ICA positivity or diabetes, the three other antibodies were measured in all samples available from that individual. Persistent autoantibody positivity was defined as continued positivity in at least two sequential samples including the last available sample. RESULTS Pre-diabetic ICA positivity was observed in 1,173 subjects (15.8%), 155 of whom developed type 1 diabetes. With ICA screening, 86% of 180 progressors (median age at diagnosis 5.0 years) were identified. Positivity for four antibodies was associated with the highest disease sensitivity (54.4%) and negative predictive values (98.3%) and the lowest negative likelihood ratio (0.5). The combination of persistent ICA and IAA positivity resulted in the highest positive predictive value (91.7%), positive likelihood ratio (441.8), cumulative disease risk (100%), and specificity (100%). Young age at seroconversion, high ICA level, multipositivity, and persistent positivity for IAA were significant risk markers for type 1 diabetes. CONCLUSIONS Within the general population, the combination of HLA and autoantibody screening resulted in disease risks that are likely to be as high as those reported among autoantibody-positive siblings of children with type 1 diabetes. PMID:19755526

  20. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

    Science.gov (United States)

    Huang, Hailiang; Ng, Siew C; Alberts, Rudi; Takahashi, Atsushi; Ripke, Stephan; Lee, James C; Jostins, Luke; Shah, Tejas; Abedian, Shifteh; Cheon, Jae Hee; Cho, Judy; Dayani, Naser E; Franke, Lude; Fuyuno, Yuta; Hart, Ailsa; Juyal, Ramesh C; Juyal, Garima; Kim, Won Ho; Morris, Andrew P; Poustchi, Hossein; Newman, William G; Midha, Vandana; Orchard, Timothy R; Vahedi, Homayon; Sood, Ajit; Sung, Joseph Y; Malekzadeh, Reza; Westra, Harm-Jan; Yamazaki, Keiko; Yang, Suk-Kyun; Barrett, Jeffrey C; Alizadeh, Behrooz Z; Parkes, Miles; BK, Thelma; Daly, Mark J; Kubo, Michiaki; Anderson, Carl A; Weersma, Rinse K

    2016-01-01

    Ulcerative colitis and Crohn’s disease are the two main forms of inflammatory bowel disease (IBD). Here, we report the first trans-ethnic association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East-Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of IBD risk loci, the direction and magnitude of effect is consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by a combination of differences in allele frequencies (NOD2), effect sizes (TNFSF15, ATG16L1) or a combination of both (IL23R, IRGM). Our results provide biological insights into the pathogenesis of IBD, and demonstrate the utility of trans-ethnic association studies for mapping complex disease loci and understanding genetic architecture across diverse populations. PMID:26192919

  1. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

    Science.gov (United States)

    Liu, Jimmy Z; van Sommeren, Suzanne; Huang, Hailiang; Ng, Siew C; Alberts, Rudi; Takahashi, Atsushi; Ripke, Stephan; Lee, James C; Jostins, Luke; Shah, Tejas; Abedian, Shifteh; Cheon, Jae Hee; Cho, Judy; Dayani, Naser E; Franke, Lude; Fuyuno, Yuta; Hart, Ailsa; Juyal, Ramesh C; Juyal, Garima; Kim, Won Ho; Morris, Andrew P; Poustchi, Hossein; Newman, William G; Midha, Vandana; Orchard, Timothy R; Vahedi, Homayon; Sood, Ajit; Sung, Joseph Y; Malekzadeh, Reza; Westra, Harm-Jan; Yamazaki, Keiko; Yang, Suk-Kyun; Barrett, Jeffrey C; Alizadeh, Behrooz Z; Parkes, Miles; Bk, Thelma; Daly, Mark J; Kubo, Michiaki; Anderson, Carl A; Weersma, Rinse K

    2015-09-01

    Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease (IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of the IBD risk loci, the direction and magnitude of effect are consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG16L1) or a combination of these factors (IL23R and IRGM). Our results provide biological insights into the pathogenesis of IBD and demonstrate the usefulness of trans-ancestry association studies for mapping loci associated with complex diseases and understanding genetic architecture across diverse populations.

  2. Association of GST genetic polymorphisms with the susceptibility to hepatocellular carcinoma (HCC in Chinese population evaluated by an updated systematic meta-analysis.

    Directory of Open Access Journals (Sweden)

    Kui Liu

    Full Text Available BACKGROUND: Due to the possible involvement of Glutathione S-transferase Mu-1 (GSTM1 and Glutathione S-transferase theta-1 (GSTT1 in the detoxification of environmental carcinogens, environmental toxins, and oxidative stress products, genetic polymorphisms of these two genes may play important roles in the susceptibility of human being to hepatocellular carcinoma. However, the existing research results are not conclusive. METHODS: A systematic literature search using databases (PubMed, Scopus, Embase, Chinese Biomedical Database, Chinese National Knowledge Infrastructure, Wanfang Data, etc. for the eligible studies meeting the inclusion criteria including case-control studies or cohort studies is evaluated using an updated systematic meta-analysis. RESULTS: Significant increase in the risk of HCC in the Chinese population is found in GSTM1 null genotype (OR = 1.47, 95% CI: 1.21 to 1.79, P<0.001 and GSTT1 null genotype (OR = 1.38, 95% CI: 1.14 to 1.65, P<0.001. Analysis using the random-effects model found an increased risk of HCC in GSTM1-GSTT1 dual null population (OR = 1.79, 95% CI: 1.26 to 2.53, P<0.001. In addition, subgroup analyses showed a significant increase in the association of GST genetic polymorphisms (GSTM1, GSTT1, and GSTM1-GSTT1 with HCC in southeast and central China mainland. However, available data collected by this study fail to show an association between GST genetic polymorphisms and HCC in people from the Taiwan region (for GSTM1: OR = 0.78, 95% CI: 0.60 to 1.01, P = 0.06; for GSTT1: OR = 0.94, 95% CI: 0.78 to 1.14, P = 0.546; for GSTM1-GSTT1: OR = 1.04, 95% CI: 0.81 to 1.32, P = 0.77. Sensitivity analysis and publication bias diagnostics confirmed the reliability and stability of this meta-analysis. CONCLUSIONS: Our results indicate that both GSTM1 and GSTT1 null genotypes are associated with an increased HCC risk in Chinese population. Peoples with dual null genotypes of GSTM1-GSTT1

  3. XAB2 tagSNPs contribute to non-small cell lung cancer susceptibility in Chinese population

    International Nuclear Information System (INIS)

    Pei, Na; Cao, Lei; Liu, Yingwen; Wu, Jing; Song, Qinqin; Zhang, Zhi; Yuan, Juxiang; Zhang, Xuemei

    2015-01-01

    XPA-binding protein 2 (XAB2) interacts with Cockayne syndrome complementation group A (CSA), group B (CSB) and RNA polymerase II to initiate nucleotide excision repair. This study aims to evaluate the association of XAB2 genetic variants with the risk of non-small cell lung cancer (NSCLC) using a tagging approach. A hospital-based case-control study was conducted in 470 patients with NSCLC and 470 controls in Chinese population. Totally, 5 tag single nucleotide polymorphisms (SNPs) in XAB2 gene were selected by Haploview software using Hapmap database. Genotyping was performed using iPlex Gold Genotyping Asssy and Sequenom MassArray. Unconditional logistic regression was conducted to estimate odd ratios (ORs) and 95 % confidence intervals (95 % CI). Unconditional logistic regression analysis showed that the XAB2 genotype with rs794078 AA or at least one rs4134816 C allele were associated with the decreased risk of NSCLC with OR (95 % CI) of 0.12 (0.03–0.54) and 0.46 (0.26–0.84). When stratified by gender, we found that the subjects carrying rs4134816 CC or CT genotype had a decreased risk for developing NSCLC among males with OR (95 % CI) of 0.39 (0.18–0.82), but not among females. In age stratification analysis, we found that younger subjects (age ≤ 60) with at least one C allele had a decreased risk of NSCLC with OR (95 % CI) of 0.35 (0.17–0.74), but older subjects didn’t. We didn’t find that XAB2 4134816 C > T variant effect on the risk of NSCLC when stratified by smoking status. The environmental factors, such as age, sex and smoking had no effect on the risk of NSCLC related to XAB2 genotypes at other polymorphic sites. The XAB2 tagSNPs (rs794078 and rs4134816) were significantly associated with the risk of NSCLC in Chinese population, which supports the XAB2 plays a significant role in the development of NSCLC

  4. Appetitive traits as behavioural pathways in genetic susceptibility to obesity: a population-based cross-sectional study.

    Science.gov (United States)

    Konttinen, Hanna; Llewellyn, Clare; Wardle, Jane; Silventoinen, Karri; Joensuu, Anni; Männistö, Satu; Salomaa, Veikko; Jousilahti, Pekka; Kaprio, Jaakko; Perola, Markus; Haukkala, Ari

    2015-10-01

    The mechanisms through which genes influence body weight are not well understood, but appetite has been implicated as one mediating pathway. Here we use data from two independent population-based Finnish cohorts (4632 adults aged 25-74 years from the DILGOM study and 1231 twin individuals aged 21-26 years from the FinnTwin12 study) to investigate whether two appetitive traits mediate the associations between known obesity-related genetic variants and adiposity. The results from structural equation modelling indicate that the effects of a polygenic risk score (90 obesity-related loci) on measured body mass index and waist circumference are partly mediated through higher levels of uncontrolled eating (βindirect = 0.030-0.032, P < 0.001 in DILGOM) and emotional eating (βindirect = 0.020-0.022, P < 0.001 in DILGOM and βindirect = 0.013-0.015, P = 0.043-0.044 in FinnTwin12). Our findings suggest that genetic predispositions to obesity may partly exert their effects through appetitive traits reflecting lack of control over eating or eating in response to negative emotions. Obesity prevention and treatment studies should examine the impact of targeting these eating behaviours, especially among individuals having a high genetic predisposition to obesity.

  5. Susceptibility to aplastic anemia is associated with HLA-DRB1*1501 in an aboriginal population in Sabah, Malaysia.

    Science.gov (United States)

    Dhaliwal, J S; Wong, Lily; Kamaluddin, Muhammad Amir; Yin, Lee Yin; Murad, Shahnaz

    2011-10-01

    The incidence of aplastic anemia is reported to be higher in Asia than elsewhere. We studied the frequency of human leukocyte antigen (HLA) DRB1 alleles in aplastic anemia patients from 2 genetically similar aboriginal groups, the Kadazan and the Dusun, and compared them with genetically matched community and hospital controls. HLA-DRB1*15 was significantly higher in the patients compared with controls (p = 0.005), confirming similar findings in Japanese and Caucasian studies. Further testing indicated a significantly higher frequency of HLA-DRB1*1501 in patients compared with controls (p = 0.0004) but no significant difference in the frequency of HLA-DRB1*1502. The high frequency of HLA-DRB1*15 in the Kadazan and Dusun population combined with the wide variety of environmental factors associated with aplastic anemia could be the reason for the elevated incidence of aplastic anemia in the Kadazan and Dusun in Sabah. Copyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  6. Appetitive traits as behavioural pathways in genetic susceptibility to obesity: a population-based cross-sectional study

    Science.gov (United States)

    Konttinen, Hanna; Llewellyn, Clare; Wardle, Jane; Silventoinen, Karri; Joensuu, Anni; Männistö, Satu; Salomaa, Veikko; Jousilahti, Pekka; Kaprio, Jaakko; Perola, Markus; Haukkala, Ari

    2015-01-01

    The mechanisms through which genes influence body weight are not well understood, but appetite has been implicated as one mediating pathway. Here we use data from two independent population-based Finnish cohorts (4632 adults aged 25–74 years from the DILGOM study and 1231 twin individuals aged 21–26 years from the FinnTwin12 study) to investigate whether two appetitive traits mediate the associations between known obesity-related genetic variants and adiposity. The results from structural equation modelling indicate that the effects of a polygenic risk score (90 obesity-related loci) on measured body mass index and waist circumference are partly mediated through higher levels of uncontrolled eating (βindirect = 0.030–0.032, P emotional eating (βindirect = 0.020–0.022, P obesity may partly exert their effects through appetitive traits reflecting lack of control over eating or eating in response to negative emotions. Obesity prevention and treatment studies should examine the impact of targeting these eating behaviours, especially among individuals having a high genetic predisposition to obesity. PMID:26423639

  7. Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

    Science.gov (United States)

    Andlauer, Till F. M.; Buck, Dorothea; Antony, Gisela; Bayas, Antonios; Bechmann, Lukas; Berthele, Achim; Chan, Andrew; Gasperi, Christiane; Gold, Ralf; Graetz, Christiane; Haas, Jürgen; Hecker, Michael; Infante-Duarte, Carmen; Knop, Matthias; Kümpfel, Tania; Limmroth, Volker; Linker, Ralf A.; Loleit, Verena; Luessi, Felix; Meuth, Sven G.; Mühlau, Mark; Nischwitz, Sandra; Paul, Friedemann; Pütz, Michael; Ruck, Tobias; Salmen, Anke; Stangel, Martin; Stellmann, Jan-Patrick; Stürner, Klarissa H.; Tackenberg, Björn; Then Bergh, Florian; Tumani, Hayrettin; Warnke, Clemens; Weber, Frank; Wiendl, Heinz; Wildemann, Brigitte; Zettl, Uwe K.; Ziemann, Ulf; Zipp, Frauke; Arloth, Janine; Weber, Peter; Radivojkov-Blagojevic, Milena; Scheinhardt, Markus O.; Dankowski, Theresa; Bettecken, Thomas; Lichtner, Peter; Czamara, Darina; Carrillo-Roa, Tania; Binder, Elisabeth B.; Berger, Klaus; Bertram, Lars; Franke, Andre; Gieger, Christian; Herms, Stefan; Homuth, Georg; Ising, Marcus; Jöckel, Karl-Heinz; Kacprowski, Tim; Kloiber, Stefan; Laudes, Matthias; Lieb, Wolfgang; Lill, Christina M.; Lucae, Susanne; Meitinger, Thomas; Moebus, Susanne; Müller-Nurasyid, Martina; Nöthen, Markus M.; Petersmann, Astrid; Rawal, Rajesh; Schminke, Ulf; Strauch, Konstantin; Völzke, Henry; Waldenberger, Melanie; Wellmann, Jürgen; Porcu, Eleonora; Mulas, Antonella; Pitzalis, Maristella; Sidore, Carlo; Zara, Ilenia; Cucca, Francesco; Zoledziewska, Magdalena; Ziegler, Andreas; Hemmer, Bernhard; Müller-Myhsok, Bertram

    2016-01-01

    We conducted a genome-wide association study (GWAS) on multiple sclerosis (MS) susceptibility in German cohorts with 4888 cases and 10,395 controls. In addition to associations within the major histocompatibility complex (MHC) region, 15 non-MHC loci reached genome-wide significance. Four of these loci are novel MS susceptibility loci. They map to the genes L3MBTL3, MAZ, ERG, and SHMT1. The lead variant at SHMT1 was replicated in an independent Sardinian cohort. Products of the genes L3MBTL3, MAZ, and ERG play important roles in immune cell regulation. SHMT1 encodes a serine hydroxymethyltransferase catalyzing the transfer of a carbon unit to the folate cycle. This reaction is required for regulation of methylation homeostasis, which is important for establishment and maintenance of epigenetic signatures. Our GWAS approach in a defined population with limited genetic substructure detected associations not found in larger, more heterogeneous cohorts, thus providing new clues regarding MS pathogenesis. PMID:27386562

  8. Genetic polymorphism of NOS3 with susceptibility to deep vein thrombosis after orthopedic surgery: a case-control study in Chinese Han population.

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    Jizheng Qin

    Full Text Available Deep vein thrombosis is one of the common complications of orthopedic surgery. Studies indicated that genetic factors played a considerable role in the pathogenesis of deep vein thrombosis. Endothelial nitric oxide synthase which encoded by nitric oxide synthase 3 (NOS3, can generate nitric oxide in endothelial cells. As a predominant regulator for vascular homeostasis, nitric oxide might be involved in the pathogenesis of thrombosis. It had been proved that the NOS3 polymorphism (rs1799983 was associated with the development of cardiovascular diseases. Our objective was to evaluate the association between the NOS3 polymorphism (rs1799983 and deep vein thrombosis after orthopedic surgery in Chinese Han population. The polymorphism was genotyped in 224 subjects with deep vein thrombosis after orthopedic surgery and 580 controls. Allele and genotype frequencies were compared between subjects with deep vein thrombosis and control subjects. The allele and genotype frequencies of the NOS3 polymorphism (rs1799983 were significantly different between subjects with deep vein thrombosis and control subjects. There were also significant differences when the subjects were stratified by gender, surgery type and hypertension status. These findings suggested that the NOS3 polymorphism (rs1799983 was associated with susceptibility to the deep vein thrombosis after orthopedic surgery in Chinese Han population, and NOS3 might play a role in the development of deep vein thrombosis after orthopedic surgery.

  9. NRAMP1 and VDR gene polymorphisms in susceptibility to pulmonary tuberculosis among Andhra Pradesh population in India: a case-control study.

    Science.gov (United States)

    Medapati, Rooth Vasantha; Suvvari, Sridevi; Godi, Sudhakar; Gangisetti, Paddaiah

    2017-06-05

    The aim of the present study was to evaluate the association of NRAMP1 -3'UTR, 274-CT,VDR- Fok1 VDR-Taq1 Polymorphisms with the risk of pulmonary tuberculosis. A case -control study was conducted on Andhra Pradesh Population of India. Analysis of gene polymorphisms of NRAMP1 gene (3'UTR, 274CT) and VDR gene (Fok1 and Taq1) was done by using Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in Tuberculosis (TB) patients and healthy controls. The obtained results were observed using 2% Agarose Gel electrophoresis and analysed statistically using Chi-square test and Odds Ratio. Statistical significance was observed between the patients and the controls in the NRAMP1-3'UTR (P = 0.005; OR = 2.997; 95% CI = 1.019-8.813) and VDR-Taq1 (P  0.05). 3'UTR-NRAMP1 gene and VDR-Taq1 gene Polymorphisms are statistically associated with the susceptibility of TB in Andhra Pradesh Population in India.

  10. Quantitative assessment of the association between Fas/FasL gene polymorphism and susceptibility to esophageal carcinoma in a north Chinese population

    International Nuclear Information System (INIS)

    Zhang, Meijuan; Wu, Cuiping; Li, Baohuan; Du, Wenjun; Zhang, Chuanzhen; Chen, Ziping

    2016-01-01

    The case–control study aims to investigate the association of Fas and FasL genetic polymorphisms (Fas-670A/G (rs1800682), Fas-1377G/A (rs2234767) and FasL-844T/C (rs763110)) with esophageal carcinoma susceptibility in a north Chinese population. A total of 204 patients with esophageal carcinoma and 248 healthy controls were enrolled from Henan, China and genotyped by the polymerase chain reaction and restriction fragment length polymorphism method. There were no significant differences in distributions of their genotypes frequencies between patients and controls in Fas-670A/G, Fas-1377G/A and FasL-844T/C polymorphisms (P > 0.05). Stratified analysis showed that no significant association was found between esophageal carcinoma and gene polymorphisms of Fas-670 A/G, Fas-1377G/A, and FasL-844T/C (P > 0.05). Genetic polymorphisms in the death pathway genes Fas and FasL were not associated with risk of developing esophageal carcinoma in a north Chinese population

  11. The relationship between IGF2BP2 and PPARG polymorphisms and susceptibility to esophageal squamous-cell carcinomas in the eastern Chinese Han population

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    Qiu H

    2017-11-01

    findings highlight that PPARG rs1801282 C>G and rs3856806 C>T polymorphisms are candidates for susceptibility to ESCC in the eastern Chinese Han population. The Crs1470579Grs4402960Crs1801282Crs3856806 haplotype is associated with susceptibility to ESCC. Keywords: PPARG, IGF2BP2, polymorphism, risk, ESCC

  12. Correlation between single nucleotide polymorphism of rs3811047 in IL-1 F7 gene and rheumatoid arthritis susceptibility among Han population in central plains of China.

    Science.gov (United States)

    Shi, Li-Pu; He, Ya; Liu, Zhi-Dui

    2013-01-01

    To discuss the association between single nucleotide polymorphism (SNP) of rs3811047 in IL-1 F7 gene and rheumatoid arthritis (RA) susceptibility among the Han population in central plains of China. A total of 276 RA patients admitted to our hospital from December 2009 to December 2011 together with 276 healthy physical examinees in the same period were chosen as the subjects. The typing for rs3811047 SNP in IL-1 F7 gene was carried out by using ligase detection reaction and polymerase chain reaction technique. And the frequency of each allele and genotypes distribution was calculated so as to evaluate the association between genotype distribution and RA susceptibility. The frequency of A allele of rs3811047 in IL-1 F7 gene in RA group and control group was 16.27% and 17.68%, respectively, and that of G allele in two groups was 83.73% and 82.32%, respectively. The difference between two groups wasn't statistical significant (P >0.05). The frequency of genotype AA, AG and GG in RA group was 2.19%, 27.84% and 69.97%, respectively, while that in control group was 2.94%, 29.78% and 67.28%, respectively. The difference of distribution of three genotypes was not statistically significant (P >0.05). RA patients with A allele were better than those without A allele in joint swelling index, rest pain, HAQ scoring and blood sedimentation. There was significant difference between two groups in above indexes (PF7 gene is observed. However, A allele of rs3811047 has certain influence on the condition of RA patients. Copyright © 2013 Hainan Medical College. Published by Elsevier B.V. All rights reserved.

  13. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809 and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.

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    Miao He

    Full Text Available Grainyhead-like-3 (GRHL3 was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC and lower lip pits. In addition, a missense variant (rs41268753 in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6, GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations.The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting.Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs spanning GRHL3 with minor allele frequencies (MAFs > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5'-exonuclease allelic discrimination assay.SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC.The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809 and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population, further studies with a larger sample

  14. Methylenetetrahydrofolate reductase genotypes and haplotypes associated with susceptibility to colorectal cancer in an eastern Chinese Han population.

    Science.gov (United States)

    Li, H; Xu, W L; Shen, H L; Chen, Q Y; Hui, L L; Long, L L; Zhu, X L

    2011-12-14

    Methylenetetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism and is involved in DNA synthesis, DNA repair and DNA methylation. The two common functional polymorphisms of MTHFR, C677T and A1298C have been associated with several diseases, including cancer. We made a case-control study to analyze a possible association of MTHFR gene polymorphisms C677T and A1298C with risk for colorectal cancer in an eastern Chinese Han population of 137 patients with a confirmed histopathological diagnosis of CRC and 145 age- and gender-matched controls with no history of cancer. DNA was isolated from peripheral blood samples and the genotypes were determined by PCR-RFLP. The concentrations of folate in plasma were measured by chemiluminescence immunoassay. The MTHFR 677TT genotype had a protective effect against colorectal cancer, with an odds ratio (OR) = 0.467 (95% confidence interval (CI) = 0.225-0.966). The 1298CC genotype was significantly correlated with a reduced risk of colorectal cancer (OR = 0.192; 95%CI = 0.040-0.916). Compared with the MTHFR 677CC and MTHFR 1298 AA genotypes, for individuals who carried both MTHFR 677CC and 1298CC genotypes, the OR of colorectal cancer was 0.103 (95%CI = 0.012-0.900); among individuals who carried both MTHFR 677TT and 1298AC genotypes, the OR for risk of colorectal cancer was 0.169 (95%CI = 0.044-0.654). MTHFR 677TT+CT genotypes had a significantly lower plasma folate concentration than those with the MTHFR 677CC genotype. MTHFR 1298AC+CC genotypes had a lower plasma folate concentration than those with the MTHFR 1298AA genotype (P < 0.05). In conclusion, subjects with the MTHFR 677TT and MTHFR 1298CC genotypes appeared to have a significantly lower risk for colorectal cancer. MTHFR haplotypes 677CC/1298CC and 677TT/1298AC were less common in cases than in controls. These haplotypes, when compared to the most common haplotype 677CC/1298AA, were associated with a decreased risk for colorectal cancer. We

  15. Ultrasonographic clues for diagnosis of spina bifida occulta in children.

    Science.gov (United States)

    Cakmakci, Emin; Cinar, Hasibe Gokce; Uner, Cigdem; Ucan, Berna; Eksioglu, Ayse Secil; Pala, Melek; Yildiz, Yasemin Tasci; Cakmakci, Selma; Yikmaz, Hulya Seker

    2016-10-01

    The aim of the current study was to find out if spinal ultrasonography might have a predictive potential for detection of spina bifida occulta (SBO) in pediatric nocturnal enuresis patients. A total of 108 children (58 females, 50 males) with a mean age of 8 (range, 6-15) years diagnosed for nocturnal enuresis in our tertiary care center were included in this cross-sectional analysis. Half of the cases (n=54, 50%) were found to have SBO, while the other half did not have SBO. After obtaining radiographs and computed tomography examinations of L5-S1 vertebra, patients were examined by spinal ultrasound regarding radiologic clues which may aid in the detection of SBO. The clues of "single and double echogeneous cap signs and the V-shaped tip of spine" were found useful for diagnosing SBO at levels of L5 and S1 in pediatric patients suspected for SBO. Receiver operating curve (ROC) curve analysis of CT and ultrasonographic clues for diagnosis of SBO on S1 level revealed that these clues yielded a comparable diagnostic accuracy to CT. Areas under curve for CT and studied ultrasonographic clues were are 0.667±0.053 and 0.907±0.032 (Pbifida. However, to implement our ultrasonographic criteria in routine radiological practice, further studies in larger series are warranted.

  16. Development of the Contact Lens User Experience: CLUE Scales.

    Science.gov (United States)

    Wirth, R J; Edwards, Michael C; Henderson, Michael; Henderson, Terri; Olivares, Giovanna; Houts, Carrie R

    2016-08-01

    The field of optometry has become increasingly interested in patient-reported outcomes, reflecting a common trend occurring across the spectrum of healthcare. This article reviews the development of the Contact Lens User Experience: CLUE system designed to assess patient evaluations of contact lenses. CLUE was built using modern psychometric methods such as factor analysis and item response theory. The qualitative process through which relevant domains were identified is outlined as well as the process of creating initial item banks. Psychometric analyses were conducted on the initial item banks and refinements were made to the domains and items. Following this data-driven refinement phase, a second round of data was collected to further refine the items and obtain final item response theory item parameters estimates. Extensive qualitative work identified three key areas patients consider important when describing their experience with contact lenses. Based on item content and psychometric dimensionality assessments, the developing CLUE instruments were ultimately focused around four domains: comfort, vision, handling, and packaging. Item response theory parameters were estimated for the CLUE item banks (377 items), and the resulting scales were found to provide precise and reliable assignment of scores detailing users' subjective experiences with contact lenses. The CLUE family of instruments, as it currently exists, exhibits excellent psychometric properties.

  17. Psychometric evaluation of the Swedish version of the pure procrastination scale, the irrational procrastination scale, and the susceptibility to temptation scale in a clinical population.

    Science.gov (United States)

    Rozental, Alexander; Forsell, Erik; Svensson, Andreas; Forsström, David; Andersson, Gerhard; Carlbring, Per

    2014-01-01

    Procrastination is a prevalent self-regulatory failure associated with stress and anxiety, decreased well-being, and poorer performance in school as well as work. One-fifth of the adult population and half of the student population describe themselves as chronic and severe procrastinators. However, despite the fact that it can become a debilitating condition, valid and reliable self-report measures for assessing the occurrence and severity of procrastination are lacking, particularly for use in a clinical context. The current study explored the usefulness of the Swedish version of three Internet-administered self-report measures for evaluating procrastination; the Pure Procrastination Scale, the Irrational Procrastination Scale, and the Susceptibility to Temptation Scale, all having good psychometric properties in English. In total, 710 participants were recruited for a clinical trial of Internet-based cognitive behavior therapy for procrastination. All of the participants completed the scales as well as self-report measures of depression, anxiety, and quality of life. Principal Component Analysis was performed to assess the factor validity of the scales, and internal consistency and correlations between the scales were also determined. Intraclass Correlation Coefficient, Minimal Detectable Change, and Standard Error of Measurement were calculated for the Irrational Procrastination Scale. The Swedish version of the scales have a similar factor structure as the English version, generated good internal consistencies, with Cronbach's α ranging between .76 to .87, and were moderately to highly intercorrelated. The Irrational Procrastination Scale had an Intraclass Correlation Coefficient of .83, indicating excellent reliability. Furthermore, Standard Error of Measurement was 1.61, and Minimal Detectable Change was 4.47, suggesting that a change of almost five points on the scale is necessary to determine a reliable change in self-reported procrastination severity. The

  18. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study

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    Barberá Víctor-Manuel

    2009-06-01

    Full Text Available Abstract Background TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445 is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. Methods The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR and 95% confidence interval (95% CI for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. Results There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05. The OR was 1.147 (95% CI: 0.799–1.647 for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520 for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%. Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage

  19. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study

    International Nuclear Information System (INIS)

    Castillejo, Adela; Guillén-Ponce, Carmen; Carrato, Alfredo; Soto, José-Luís; Mata-Balaguer, Trinidad; Montenegro, Paola; Ochoa, Enrique; Lázaro, Rafael; Martínez-Cantó, Ana; Castillejo, María-Isabel; Guarinos, Carla; Barberá, Víctor-Manuel

    2009-01-01

    TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445) is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR) and 95% confidence interval (95% CI) for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05). The OR was 1.147 (95% CI: 0.799–1.647) for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520) for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%). Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage disequilibrium of the TGFBR1*6A allele with

  20. Susceptibility of field populations of the fall armyworm (Lepidoptera: Noctuidae) from Florida and Puerto Rico to purified Cry1F protein and corn leaf tissue containing single and pyramided Bt genes

    Science.gov (United States)

    Larval survival of Cry1F-susceptible (FL), -resistant (PR and Cry1F-RR), and -heterozygous (FL x PR and Cry1F-RS) populations of the fall armyworm, Spodoptera frugiperda (J.E. Smith) to purified Cry1F protein and corn leaf tissue of seven Bacillus thuringiensis (Bt) corn hybrids and five non-Bt corn...

  1. Factors associated with non-vaccination against measles in northeastern Brazil: Clues about causes of the 2015 outbreak.

    Science.gov (United States)

    Rocha, Hermano A L; Correia, Luciano L; Campos, Jocileide S; Silva, Anamaria C; Andrade, Francisca O; Silveira, Dirlene I; Machado, Márcia M; Leite, Álvaro J; Cunha, Antônio J L A

    2015-09-11

    Measles is a highly contagious disease that can be effectively prevented through vaccination. The recent increase in vaccination coverage was successful in reducing the mortality globally of the disease by 74%. As a whole, the Americas have been considered a disease-free zone. However, it is known that if an immunization programs fails, there will be an accumulation of susceptible people that can lead to disease outbreaks. Recently, both the United States and Brazil faced outbreaks of measles. The present study aims to identify the determining factors of non-vaccination in Brazil in two different vaccination coverage moments, to provide clues as to the causes of current outbreaks. Data were drawn from five population-based cross-sectional studies that surveyed a representative sample of preschool children from 1987 to 2007 (9585 children in total). To assess children's vaccination status, two different information sources were used: information provided by mothers and information from children's health cards. Multivariate analyses with logistic binary regression models were conducted. After adjustment for confounding factors, it was observed that in 1987, with 48.2% vaccination coverage, socioeconomic, maternal, nutritional factors and access to health facilities were important, while in 2007 (96.7% coverage), nutritional and maternal factors were important. Distinct patterns of determinants of non-vaccination were also found. In addition, the low coverage in 1987 resulted in a current pool of adults who were not immunized as children; this may have contributed to the beginning of the current Brazilian outbreak. Globally, there are two standards of vaccination coverage (low and high). Therefore, discussion of the determinants of non-vaccination is important. Our findings suggest vulnerable groups should receive special attention to ensure they are protected. It is also important to consider the possible impact of pools of adults not immunized. Copyright © 2015

  2. Polymorphism in the tumor necrosis factor-alpha gene (TNFA -308 G/A is not associated with susceptibility to chronic periodontitis in a Brazilian population

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    Paula Cristina Trevilatto

    2016-02-01

    Full Text Available Objective: Tumor necrosis factor-alpha (TNF-α is a major mediator of the immune-inflammatory response and may play an important role in the pathogenesis and progression of chronic periodontitis. Polymorphisms in the promoter of the TNFA gene have been associated with some types of inflammatory diseases. The present study investigated the association between a single-nucleotide polymorphism (SNP of the TNFA (G-308A gene and chronic periodontitis in Brazilians. Methods: One hundred and thirteen (113 over 25 years were divided according to the severity level of periodontal disease: 44 healthy individuals (control group, 31 subjects with moderate and 38 patients with severe periodontitis. Genomic DNA was obtained from epithelial cells. The samples were analyzed for TNFA (G-308A polymorphism using polymerase chain reaction-restriction fragment length polymorphism techniques. The significance of the differences in the genotype frequencies of the polymorphism was assessed by Chi-square test (p<0.05. Results: No significant differences in the genotype distribution and allele frequency were found between control and groups with periodontitis. Conclusion: It was concluded that TNFA (-308 polymorphism was not associated with chronic periodontitis. Other polymorphisms in this or/and other genes of the host inflammatory response might be involved in determining susceptibility to periodontitis in the study population.

  3. Pre-micro RNA-499 Gene Polymorphism rs3746444 T/C is Associated with Susceptibility to Rheumatoid Arthritis in Egyptian Population.

    Science.gov (United States)

    Fattah, Shaimaa A; Ghattas, Maivel H; Saleh, Samy M; Abo-Elmatty, Dina M

    2018-01-01

    Pre-miRNA-499 gene is associated with autoimmune disease. Mir-449 rs3746444 polymorphism is inconsistent for rheumatoid arthritis (RA). This study aimed to investigate association of mir-499 rs3746444 polymorphism with RA activity and severity in Egyptian population. The study population was conducted as case control study in 100 RA patients diagnosed according to the American College of Rheumatology classification criteria for RA, and the control group included 100 healthy subjects who were age-and sex-matched to the RA group. Different genotypes were assessed using polymerase chain reaction-restriction fragment length polymorphism. 95% Confidence interval and odds ratio were defined to assess the strength of association. Regarding patients, thirty-three patients carried TT genotype, fifty-three patients carried TC genotype and fourteen patients carried CC genotype. So the frequency of the minor C allele in RA patients was significantly higher than the control subjects ( P  = 0.037). TC, CC genotypes and C allele frequencies were significantly associated with disease severity as they had high rheumatoid factor (55.78 µIU/ml) and anti-cyclic citrullinated peptide (Anti-CCP) antibody (297.32 µIU/ml). Moreover, the heterozygote TC had more severe and more active form of the disease compared with homozygote CC or TT as they had high Anti-CCP antibody, and disease activity score 28 (score 5). Our work suggests that C allele of Pre-miRNA rs3746444 polymorphism contributes to heritability of susceptibility to RA compared to T allele. This polymorphism was associated with the activity and severity of the disease.

  4. Association of Inducible T Cell Costimulator Polymorphisms with Susceptibility and Outcome of Hepatitis B Virus Infection in a Chinese Han Population.

    Science.gov (United States)

    Hu, J; Li, Q-L; Hou, S-H; Peng, H; Guo, J-J

    2015-09-01

    Inducible T cell costimulator (ICOS) functions to regulate cell-cell signalling, immune responses and cell proliferation. ICOS single nucleotide polymorphism (SNP) may affect protein expression and functions. This study investigated the association of ICOS SNPs with hepatitis B virus (HBV) infection and outcome in a Chinese population. A total of 1290 Chinese Han individuals were enrolled, including 63 asymptomatic HBV carriers, 220 chronic hepatitis B patients (CHB), 249 HBV-related liver cirrhosis patients (LC), 108 patients with HBV-related hepatocellular carcinoma (HCC), 338 patients with natural HBV clearance and 312 healthy subjects (as controls). DNA samples from these subjects were genotyped for four ICOS SNPs (rs11883722, rs10932029, rs1559931 and rs4675379) using TaqMan SNP Genotyping Assay and analysed. The data showed that genotype and allele frequencies of ICOS SNPs in cases and controls followed the Hardy-Weinberg distribution. The CC genotype of rs4675379 was higher in patients with HBV infection (including AC, CHB, LC and HCC) than in patients with HBV clearance (P = 0.006). Furthermore, the genotype 'GA' and the minor allele 'A' of rs1559931 were associated with a decreased HCC susceptibility (P a lower frequency in patients than in HBV-cleared subjects (P = 0.034), although its overall frequency was only 1.6%. Our study found that ICOS rs1559931 SNP was associated with decreased HBV-related HCC risk in the studied Chinese Han population, except for patients with natural clearance of HBV. © 2015 The Foundation for the Scandinavian Journal of Immunology.

  5. Genetic study of two single nucleotide polymorphisms within corresponding microRNAs and susceptibility to tuberculosis in a Chinese Tibetan and Han population.

    Science.gov (United States)

    Li, Dongdong; Li, Dingdong; Wang, Tingting; Song, Xingbo; Qucuo, MeiLang; Yang, Bin; Zhang, Junlong; Wang, Jun; Ying, Binwu; Tao, Chuanmin; Wang, Lanlan

    2011-07-01

    MicroRNAs (miRNA) are thought to play important roles in the pathogenesis of diseases. Single nucleotide polymorphisms (SNPs) within miRNAs can change their characteristics via altering their target selection and/or expression, resulting in functional and/or phenotypic changes. We decided to investigate the genetic association with pulmonary tuberculosis with 2 nucleotide variations within corresponding microRNAs regulating the Toll-like receptor (TLR)-mediating signal pathway. MiRNAs potentially regulating the TLR-mediating signal pathway were predicted via bioinformatics. Finally, 2 SNPs, rs2910164 G>C and rs3746444 T>C within miR-146a and miR-499, were selected as candidates in accordance with some criteria. SNPs were genotyped by polymerase chain reaction-restriction fragment length polymorphism and validated by sequencing to demonstrate their association with susceptibility to pulmonary tuberculosis (PTB) in 337 PTB cases and 738 healthy controls, including 318 Tibetan and 757 Han individuals. Bioinformatics databases were searched to support the association between miRNAs and PTB. There was no association between rs3746444 and PTB risk (p = 0.118) in the Han population, but subjects carrying the C allele exhibited decreased PTB risk (odds ratio [OR] = 0.403 [95% confidence interval (95% CI) 0.278-0.583]). However, there was an association between rs3746444 and PTB in the Tibetan population, and individuals carrying the C allele exhibited increased PTB risk (OR = 1.870 [95% CI 1.218-2.871]). A polymorphism (rs2910164 G>C) indicated an association with PTB risk in both Tibetan (p = 0.031) and Han (p = 0.000) populations. However, the role of the G allele of rs2910164, like the C allele in rs3746444, differed in the Tibetan (OR = 1.509, p tuberculosis with SNPs within the corresponding miRNAs potentially regulates the TLR signal pathway. It is interesting that both the G allele (rs2910164) and the C allele (rs3746444) play different roles in 2 populations

  6. The effects of killer cell immunoglobulin-like receptor (KIR) genes on susceptibility to HIV-1 infection in the Polish population.

    Science.gov (United States)

    Zwolińska, Katarzyna; Błachowicz, Olga; Tomczyk, Tomasz; Knysz, Brygida; Gąsiorowski, Jacek; Zalewska, Małgorzata; Orzechowska, Beata U; Sochocka, Marta; Piasecki, Egbert

    2016-05-01

    Killer cell immunoglobulin-like receptors (KIR) are the most polymorphic receptors of natural killer (NK) cells. Their activity diversifies the functions of NK cells in the antiviral immune response, so the presence of certain KIR may affect transmission of HIV-1. The aim of the study was to evaluate the influence of KIR genes on the susceptibility to HIV-1 infection in the Polish population depending on the route of exposure. We determined the frequencies of activating (2DS1, 2DS2, 2DS3, 2DS4f, 2DS4del, 2DS5, 3DS1) and inhibitory (2DL1, 2DL2, 2DL3, 2DL5, 3DL1) KIRs in HIV-1-positive patients (n = 459), individuals exposed to HIV-1 but uninfected (EU, n = 118) and in uninfected, healthy blood donors (BD, n = 98). Analysis was performed using stepwise logistic regression. Apart from KIRs, CCR5-∆32, and CCR2-64I, alleles were also analyzed, as we knew or suspected that these features could affect susceptibility to HIV infection. The regression confirmed the protective effect of CCR5-∆32 (OR = 0.25, p = 0.006) and CCR2-64I (OR = 0.59, p = 0.032) against HIV infection. Among KIR genes, 2DL3 was found to be a protective factor (OR = 0.30, p = 0.015). A similar effect was seen for 3DS1 but only in intravenous drug users (IDUs) (OR = 0.30, p = 0.019), not in sexually exposed people. 2DL5 was found to be a factor facilitating HIV infection (OR = 2.13, p = 0.013). A similar effect was observed for 2DL2 but only in females (OR = 2.15, p = 0.040), and 2DS1 in IDUs (OR = 3.03, p = 0.022). Our results suggest a beneficial role of KIR3DS1 and 2DL3 supporting resistance to HIV infection and a harmful effect of 2DS1, 2DL5, and 2DL2 genes promoting HIV acquisition.

  7. Associations of genetic variants in the PSCA, MUC1 and PLCE1 genes with stomach cancer susceptibility in a Chinese population.

    Science.gov (United States)

    Sun, Hongwei; Wu, Xiaoli; Wu, Fang; Li, Ying; Yu, Zhengping; Chen, Xiangrong; Chen, Yunzhi; Yang, Wenjun

    2015-01-01

    Several genetic variants including PSCA rs2294008 C>T and rs2976392 G>A, MUC1 rs4072037 T>C, and PLCE1 rs2274223 A>G have shown significant association with stomach cancer risk in the previous genome-wide association studies (GWASs). To evaluate associations of these SNPs in the Han Chinese, an independent hospital based case-control study was performed by genotyping these four polymorphisms in a total of 692 stomach cancer cases and 774 healthy controls acquired by using frequency matching for age and gender. False-positive report probability (FPRP) analysis was also performed to validate all statistically significant findings. In the current study, significant association with stomach cancer susceptibility was observed for all the four polymorphisms of interest. Specifically, a significant increased stomach cancer risk was associated with PSCA rs2294008 (CT vs. CC: adjusted OR = 1.37, 95% CI = 1.07-1.74, and CT/TT vs.CC: adjusted OR = 1.30, 95% CI = 1.03-1.63), PSCA rs2976392 (AG vs. GG: adjusted OR = 1.30, 95% CI = 1.02-1.65, and AG/AA vs. GG: adjusted OR = 1.26, 95% CI = 1.00-1.59), or PLCE1 rs2274223 (AG vs. AA: adjusted OR = 1.48, 95% CI = 1.15-1.90, and AG/GG vs. AA: adjusted OR = 1.45, 95% CI = 1.14-1.84), respectively. In contrast, MUC1 rs4072037 was shown to decrease the cancer risk (CT vs. TT: adjusted OR = 0.77, 95% CI = 0.60-0.98). Patients with more than one risk genotypes had significant increased risk to develop stomach cancer (adjusted OR = 1.30, 95% CI = 1.03-1.64), when compared with those having 0-1 risk genotypes. Stratified analysis indicated that the increased risk was more pronounced in younger subjects, men, ever smokers, smokers with pack years ≤ 27, patients with high BMI, or non-cardia stomach cancer. This study substantiated the associations between four previous reported genetic variants and stomach cancer susceptibility in an independent Han Chinese population. Further studies with larger sample size and different ethnicities are

  8. Susceptibilidade larval de duas populações de Aedes egypti a inseticidas químicos Larval susceptibility to chemical insecticides of two Aedes egypti populations

    Directory of Open Access Journals (Sweden)

    Jairo Campos

    2001-06-01

    Aedes aegypti larvae in both areas under vector control and no vector control. METHODS: World Health Organization standard bioassays for diagnostic concentration and multiple concentrations were performed in mosquito larvae collected in an area under no vector control (Campinas, SP and an area under vector chemical control (Campo Grande, MS, in Brazil. RESULTS: Potential resistance to a diagnostic concentration of temephos (DC=0.04 ppm was registered for an Ae. aegypti larval population collected in Campinas. Multiple concentration tests confirmed the larvae resistance, with 24.5% of them surviving at the 0.0125 ppm concentration. Bioassays with the organophosphate fenitrothion (DC=0.08 ppm and pyrethroid cypermethrin (DC=0.01 ppm in the same population revealed their susceptibility to these agents. Bioassays carried out in an Ae. aegypti larval population collected in Campo Grande showed their susceptibility to temephos (DC=0.04 ppm and cypermethrin (DC=0.01 ppm. LC50 and LC95 for cypermethrin (CE25, cyfluthrin (CE5, betacyfluthrin (SC1.25 and propoxur (CE20 were determined for Ae. aegypti . Using the Rockefeller standard strain values, ratios of resistance were estimated: 2.9, 2.2, 2.4 and 1.3 for LC50 and 3.5, 2.6, 3.9 and 1.3 for LC95, respectively. CONCLUSION: The findings reinforce the need for routinely monitoring pesticide efficacy as a very important step in vector control management programs.

  9. Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population

    International Nuclear Information System (INIS)

    Peña-Chilet, Maria; Ribas, Gloria; Blanquer-Maceiras, Maite; Ibarrola-Villava, Maider; Martinez-Cadenas, Conrado; Martin-Gonzalez, Manuel; Gomez-Fernandez, Cristina; Mayor, Matias; Aviles, Juan Antonio; Lluch, Ana

    2013-01-01

    Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed. Lately, genome-wide association studies (GWAS) have been the ideal strategy to identify new common, low-penetrance susceptibility loci. In this case–control study, we try to validate in our population nine melanoma associated markers selected from published GWAS in melanoma predisposition. We genotyped the 9 markers corresponding to 8 genes (PARP1, MX2, ATM, CCND1, NADSYN1, CASP8, IRF4 and CYP2R1) in 566 cases and 347 controls from a Spanish population using KASPar probes. Genotypes were analyzed by logistic regression and adjusted by phenotypic characteristics. We confirm the protective role in MM of the rs3219090 located on the PARP1 gene (p-value 0.027). Additionally, this SNP was also associated with eye color (p-value 0.002). A second polymorphism, rs12203592, located on the IRF4 gene was associated with protection to develop MM for the dominant model (p-value 0.037). We have also observed an association of this SNP with both lentigines (p-value 0.014) and light eye color (p-value 3.76 × 10 -4 ). Furthermore, we detected a novel association with rs1485993, located on the CCND1 gene, and dark eye color (p-value 4.96 × 10 -4 ). Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. To our knowledge, this is the first time that these SNPs have been associated with MM in a Spanish population. We confirmed the proposed role of rs3219090, located on the PARP1 gene, and rs12203592, located on the IRF4 gene, as protective to MM along the same lines as have previous genome-wide associated works. Finally, we have seen associations between IRF4, PARP1, and CCND1 and phenotypic characteristics, confirming previous results for the IRF4 gene and presenting novel data for the last two, suggesting that

  10. Contextual Clues Vocabulary Strategies Choice among Business Management Students

    Science.gov (United States)

    Ahmad, Siti Nurshafezan; Muhammad, Ahmad Mazli; Kasim, Aini Mohd

    2018-01-01

    New trends in vocabulary learning focus on strategic vocabulary learning to create more active and independent language learners. Utilising suitable contextual clues strategies is seen as vital in enabling and equipping language learners with the skill to guess word meaning accurately, moving away from dependency on a dictionary to improve their…

  11. Comparative susceptibility to permethrin of two Anopheles gambiae s.l. populations from Southern Benin, regarding mosquito sex, physiological status, and mosquito age

    Directory of Open Access Journals (Sweden)

    Nazaire Aïzoun

    2014-04-01

    Conclusions: The resistance is a hereditary and dynamic phenomenon which can be due to metabolic mechanisms like overproduction of detoxifying enzymes activity. Many factors influence vector susceptibility to insecticide. Among these factors, there are mosquito sex, mosquito age, its physiological status. Therefore, it is useful to respect the World Health Organization criteria in the assessment of insecticide susceptibility tests in malaria vectors. Otherwise, susceptibility testing is conducted using unfed female mosquitoes aged 3-5 days old. Tests should also be carried out at (25±2 °C and (80±10% relative humidity.

  12. The SLC6A3 gene possibly affects susceptibility to late-onset alcohol dependence but not specific personality traits in a Han Chinese population.

    Directory of Open Access Journals (Sweden)

    Chang-Chih Huang

    Full Text Available Dopaminergic dysfunction has an important role in the pathoetiology of alcohol dependence (AD. The purpose of this study was to determine whether the solute carrier family 6 member 3 (SLC6A3 gene (also known as the dopamine transporter DAT gene was associated with AD, and whether variants in the SLC6A3 locus were associated with specific personality traits in patients with AD. Sixteen polymorphisms in SLC6A3 were analyzed using 637 patients with AD and 523 healthy controls. To reduce clinical heterogeneity, patients were classified into two subgroups: early-onset AD (EOAD and late-onset AD (LOAD. The Tridimensional Personality Questionnaire was used to assess the personality traits novelty seeking (NS and harm avoidance (HA in the patients with AD. Using allele frequency and genotype distribution comparisons and logistic regression analysis, we found evidence of association between rs6350 and AD (P < 0.05. Following subgroup analysis, we confirmed evidence of an association in patients with LOAD (P = 0.003, but not in patients with EOAD. Heterozygous carriers of the A allele have a nearly 3 times greater risk to develop LOAD compared to individuals who do not have an A allele. Although we found that patients with AD had higher NS and HA scores compared to controls (P < 0.001, we did not find evidence of association between SLC6A3 polymorphisms and either NS or HA in patients with AD using linear regression analysis. The findings from our study indicate that the SLC6A3 gene may have a role in susceptibility to late-onset AD in the Han Chinese population.

  13. Susceptibility of MED-Q1 and MED-Q3 Biotypes of Bemisia tabaci (Hemiptera: Aleyrodidae) Populations to Essential and Seed Oils.

    Science.gov (United States)

    Samuel Fogné, Drabo; Olivier, Gnankine; Bassolé, Imael H N; Nébié, Roger Charles; Laurence, Mouton

    2017-06-01

    Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae) is a major pest of many agricultural and ornamental crops in tropical and subtropical regions causing damages that result in important economic losses. Insecticides are commonly used in greenhouses or fields to control B. tabaci populations leading to rapid evolution of resistance that render treatments inefficient. Therefore, and for environmental and human health concerns, other approaches must be developed for this pest management. In the present study, we compare, using the leaf dip method, the toxicity of three essential oils (Cymbopogon citratus, Ocimum americanum, and Hyptis spicigera) and three seed oils (Lannea microcarpa, Lannea acida, and Carapa procera) with three chemical insecticides (acetamiprid, deltamethrin, and chlorpyrifos-ethyl) on adults. Two B. tabaci biotypes (MED-Q1 and MED-Q3) belonging to the Mediterranean species and collected in Burkina Faso were used. Essential oils were analyzed by gas chromatography-mass spectrometry and gas chromatography-flame ionization detector. We showed that these two biotypes have different levels of resistance to the three insecticides, MED-Q3 being more sensitive than MED-Q1. Moreover, they differ in the frequency of resistance alleles to insecticides, especially for organophosphates, as these alleles are almost fixed in MED-Q1. On the other hand, the two biotypes prove to be more susceptible to the plant extracts than to insecticides except for chlorpyrifos-ethyl, with essential oils that showed the highest insecticidal activities. Monoterpenes content were the most abundant and showed the highest insecticidal activities. Our results indicated that essential oils, but also seed oils, have the potential to constitute an alternative strategy of pest management. © The Authors 2017. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. Highly diverse and antimicrobial susceptible Escherichia coli display a naïve bacterial population in fruit bats from the Republic of Congo

    Science.gov (United States)

    Nowak, Kathrin; Fahr, Jakob; Weber, Natalie; Lübke-Becker, Antina; Semmler, Torsten; Weiss, Sabrina; Mombouli, Jean-Vivien; Wieler, Lothar H.; Guenther, Sebastian

    2017-01-01

    Bats are suspected to be a reservoir of several bacterial and viral pathogens relevant to animal and human health, but studies on Escherichia coli in these animals are sparse. We investigated the presence of E. coli in tissue samples (liver, lung and intestines) collected from 50 fruit bats of five different species (Eidolon helvum, Epomops franqueti, Hypsignathus monstrosus, Myonycteris torquata, Rousettus aegyptiacus) of two different areas in the Republic of Congo between 2009 and 2010. To assess E. coli pathotypes and phylogenetic relationships, we determined the presence of 59 virulence associated genes and multilocus sequence types (STs). Isolates were further tested for their susceptibility to several antimicrobial substances by agar disk diffusion test and for the presence of an Extended-Spectrum Beta-Lactamase phenotype. E. coli was detected in 60% of the bats analysed. The diversity of E. coli strains was very high, with 37 different STs within 40 isolates. Occasionally, we detected sequence types (e.g. ST69, ST127, and ST131) and pathotypes (e.g. ExPEC, EPEC and atypical EPEC), which are known pathogens in human and/or animal infections. Although the majority of strains were assigned to phylogenetic group B2 (46.2%), which is linked with the ExPEC pathovar, occurrence of virulence-associated genes in these strains were unexpectedly low. Due to this, and as only few of the E. coli isolates showed intermediate resistance to certain antimicrobial substances, we assume a rather naïve E. coli population, lacking contact to humans or domestic animals. Future studies featuring in depth comparative whole genome sequence analyses will provide insights into the microevolution of this interesting strain collection. PMID:28700648

  15. Correlates of smoking susceptibility among adolescents in a peri-urban area of Nepal: a population-based cross-sectional study in the Jhaukhel-Duwakot Health Demographic Surveillance Site

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    Umesh R. Aryal

    2014-07-01

    Full Text Available Background: Susceptibility to smoking is defined as an absence of firm commitment not to smoke in the future or when offered a cigarette by best friends. Susceptibility begins in adolescence and is the first step in the transition to becoming an established smoker. Many scholars have hypothesized and studied whether psychosocial risk factors play a crucial role in preventing adolescent susceptibility to smoking or discourage susceptible adolescents from becoming established smokers. Our study examined sociodemographic and family and childhood environmental factors associated with smoking susceptibility among adolescents in a peri-urban area of Nepal. Design: We conducted a population-based cross-sectional study during October–November 2011 in the Jhaukhel-Duwakot Health Demographic Surveillance Site (JD-HDSS located in a peri-urban area near Kathmandu, the capital city of Nepal, where tobacco products are easily available. Trained local enumerators conducted face-to-face interviews with 352 respondents aged 14–16. We used stepwise logistic regression to assess sociodemographic and family and childhood environmental factors associated with smoking susceptibility. Results: The percentage of smoking susceptibility among respondents was 49.70% (95% CI: 44.49; 54.93. Multivariable analysis demonstrated that smoking susceptibility was associated with smoking by exposure of adolescents to pro-tobacco advertisements (AOR [adjusted odds ratio] =2.49; 95% CI: 1.46–4.24, the teacher (2.45; 1.28–4.68, adolescents attending concerts/picnics (2.14; 1.13–4.04, and smoking by other family members/relatives (1.76; 1.05–2.95. Conclusions: Smoking susceptible adolescents are prevalent in the JD-HDSS, a peri-urban community of Nepal. Several family and childhood environmental factors increased susceptibility to smoking among Nepalese non-smoking adolescents. Therefore, intervention efforts need to be focused on family and childhood environmental factors

  16. Effects of Population Density and Host Availability on The Migration Process of Brown Planthopper Fed Using Susceptible and Resistant Rice Varieties

    Directory of Open Access Journals (Sweden)

    Imam Habibi

    2016-12-01

    Full Text Available Brown planthopper, Nilaparvata lugens Stal. (Hemiptera: Delphacidae, is an important pest of rice. This pest can cause hopperburn and field failure. This research aimed to determine the effects of population density and host availability on migration of N. lugens. The criteria used to justify the effects of host availability and population density on migration of N. lugens were based the hardness and tannin tests of the rice stems, fecundity of N. lugens, and the life cycle of N. lugens. The research was conducted under the temperature of 29.42°C with relative humidity of 61% and Light 12: Dark 12 times, using ten pairs of N. lugens brachypterous (F0 constant and then was added with five male adults on fifth days after the first infestation (F0 changed. The varieties used were IR64, as a resistant variety, and Ketan Lusi, as a susceptible variety. The results showed that the adding of the macropterous males did not affect the number of macropterous, because of that has been preplanned by the F0. Therefore, the percentage of existing macropterous was 51−52%.   INTISARI   Wereng Batang Cokelat (WBC merupakan salah satu hama tanaman padi yang sangat penting. Kerusakan parah dapat menyebabkan hopperburn dan puso (gagal panen. Tujuan penelitian ini adalah mengetahui pengaruh kepadatan populasi dan tanaman inang sebagai tempat migrasi WBC. Parameter yang dikaji untuk mengetahui pengaruh kepadatan populasi WBC dan tanaman inang tempat migrasi WBC berdasarkan tingkat kekerasan dan kandungan tanin batang tanaman padi, fekunditas WBC, dan siklus hidup WBC. Penelitian ini dilakukan pada temperatur 29.42˚C dengan kelembapan relatif 61% dan durasi siang hari 12 jam: durasi malam hari 12 jam. Metode yang dilakukan adalah dengan menggunakan 10 pasang imago WBC brakhiptera (F0 konstan, kemudian dilakukan penambahan 5 ekor imago jantan pada hari kelima setelah infestasi awal (F0 diubah. Varietas padi yang digunakan yaitu padi varietas IR64 sebagai varietas

  17. The genetic basis of leukaemia and clues to radiogenic causation

    International Nuclear Information System (INIS)

    Taylor, G.M.

    1996-01-01

    Work by the author and others on the genetic basis of leukemia is briefly reviewed. The somatic changes that cause leukemia typically take the form of reciprocal translocations between non-homologous autosomes, though non-random duplications and deletions also occur. There is currently no evidence that leukemic translocations are transmitted in the germ line causing leukemia in offspring, but there is evidence that constitutional chromosomal abnormality in general is associated with an increased risk of leukemia. Hereditary effects probably increase the risk of sporadic leukemia by affecting the response to environmental hazards, through 'leukemia-predisposing genes' and 'leukemia-susceptibility genes'. Rapid progress with the techniques of population molecular screening will soon make it possible to determine the extent of hereditary contribution to sporadic leukemia in relation to histories of radiation exposure. 10 refs

  18. Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.

    Science.gov (United States)

    Gameiro, Ana; Cabral, Rita; Moreno, Ana; Tellechea, Oscar

    2016-11-01

    Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis. © 2016 Wiley Periodicals, Inc.

  19. New clues to the evolutionary history of the main European paternal lineage M269

    DEFF Research Database (Denmark)

    Valverde, Laura; Illescas, Maria José; Villaescusa, Patricia

    2016-01-01

    The dissection of S116 in more than 1500 individuals from Atlantic Europe and the Iberian Peninsula has provided important clues about the controversial evolutionary history of M269. First, the results do not point to an origin of M269 in the Franco-Cantabrian refuge, owing to the lack of subline......The dissection of S116 in more than 1500 individuals from Atlantic Europe and the Iberian Peninsula has provided important clues about the controversial evolutionary history of M269. First, the results do not point to an origin of M269 in the Franco-Cantabrian refuge, owing to the lack...... of sublineage diversity within M269, which supports the new theories proposing its origin in Eastern Europe. Second, S116 shows frequency peaks and spatial distribution that differ from those previously proposed, indicating an origin farther west, and it also shows a high frequency in the Atlantic coastline...... generated at least two episodes of expansion in the Franco-Cantabrian area. This study demonstrates the importance of continuing the dissection of the M269 lineage in different European populations because the discovery and study of new sublineages can adjust or even completely revise the theories about...

  20. Land use scenarios simulation based on the CLUE-S model of the Lijiang River Basin in Guilin, China

    Science.gov (United States)

    Jin, Qingwen; Liu, Guang; Li, Lei; He, Chengxin; Huang, Yuqing; Yao, Yuefeng

    2016-11-01

    The relationship between government policy and land use change is very important, which can provide important information for understanding of land use change and for helping in development of sustainable policy. Returning Farmland to Forest Program is simulated by the CLUE-S model. Land use maps in 1993, 2006, 2010 and 2015 in Lijiang River Basin are interpreted based on remote sensing change from 1993 to 2025 under two scenarios (i.e., Natural Growth Scenarios, Government Intervention Scenarios). In the “Natural Growth Scenarios”, the area of construction land and cultivated land are increased, the others are decreased. In the “Government Intervention Scenarios”, the area of construction land, woodland, cultivated land, and water are increased, the others is in declined. The compared results of two scenarios provide a scientific support for the government policy in the Lijiang River Basin.

  1. An Information Theoretical Study of the Epistasis Between the CNR1 1359 G/A Polymorphism and the Taq1A and Taq1B DRD2 Polymorphisms: Assessing the Susceptibility to Cannabis Addiction in a Turkish Population.

    Science.gov (United States)

    Isir, Aysun Baransel; Baransel, Cesur; Nacak, Muradiye

    2016-04-01

    Addiction is a complex, multi-factorial disease, and thus, analyzing genetic variants at multiple loci and gene-gene interactions among them (epistasis) can provide crucial clues about causative factors of addiction which cannot be detected with single-nucleotide polymorphism (SNP) association studies. In this study, we discuss the interaction between the 1359 G/A polymorphism of the CNR1 gene and the DRD2 gene polymorphisms and the net effect of any possible epistasis on the cannabis addiction phenotype in a Turkish population. Using bivariate synergy and mutual information concepts as a means of capturing the magnitude of interaction between marker pairs, the present study not only confirms the A1 marker allele as a risk factor but also reveals a finer-grained association between A and B markers which manifests itself both as a preventive and a risk factor. Our results indicate that the increased phenotype of cases require an individual to be either heterozygous at both loci or homozygous at locus B with homozygous risk factor A1A1 present. We hypothesize that overlapping expressions of CB1 and D2R is the cause of CB1-D2R interactions in cases of substance abuse and the different polymorphisms of CNR1 and DRD2 genes may have decisive roles in the nature of these interactions in terms of promoting or alleviating the cannabis addiction risk factor of the individual.

  2. The Polymorphism of DNA Repair Gene ERCC2/XPD Arg156Arg and Susceptibility to Breast Cancer in a Chinese Population

    DEFF Research Database (Denmark)

    Yin, J. Y.; Liang, D. H.; Vogel, Ulla Birgitte

    2009-01-01

    Polymorphisms in DNA repair genes are good candidates for modifying cancer risk. ERCC2/XPD, a gene involved in nucleotide excision repair and basal transcription, may influence individual DNA repair capacity, particularly of bulky adducts. This is implicated in cancer susceptibility. To detect th...

  3. Tan spot susceptibility governed by the Tsn1 locus and race-nonspecific resistance quantitative trait loci in a population derived from the wheat lines Salamouni and Katepwa

    Science.gov (United States)

    Wheat-tan spot interactions are known to have an inverse gene-for-gene relationship where pathogen-produced necrotrophic effectors are recognized by host sensitivity genes to cause susceptibility. However, broad-spectrum non race-specific resistance quantitative trait loci (QTL) that do not conform...

  4. Re-Evaluation of a Tetraploid Wheat Population Indicates That the Tsn1-ToxA Interaction is the Only Factor Governing Stagonospora Nodorum Blotch Susceptibility

    Science.gov (United States)

    The wheat Tsn1 gene on chromosome 5B confers sensitivity to the host-selective toxin ToxA produced by the pathogens that cause tan spot and Stagonospora nodorum blotch (SNB). A compatible Tsn1-ToxA interaction is known to play a major role in conferring susceptibility of hexaploid (common) wheat to...

  5. Evidence for high genetic diversity of NAD1 and COX1 mitochondrial haplotypes among triclabendazole resistant and susceptible populations and field isolates of Fasciola hepatica (liver fluke) in Australia.

    Science.gov (United States)

    Elliott, T; Muller, A; Brockwell, Y; Murphy, N; Grillo, V; Toet, H M; Anderson, G; Sangster, N; Spithill, T W

    2014-02-24

    In recent years, the global incidence of Fasciola hepatica (liver fluke) infections exhibiting resistance to triclabendazole (TCBZ) has increased, resulting in increased economic losses for livestock producers and threatening future control. The development of TCBZ resistance and the worldwide discovery of F. hepatica population diversity has emphasized the need to further understand the genetic structure of drug susceptible and resistant Fasciola populations within Australia. In this study, the genetic diversity of liver flukes was estimated by sequencing mitochondrial DNA (mtDNA) encoding the NAD1 (530 bp) and COX1 (420 bp) genes of 208 liver flukes (F. hepatica) collected from three populations: field isolates obtained from abattoirs from New South Wales (NSW) and Victoria (Vic); three TCBZ-resistant fluke populations from NSW and Victoria; and the well-established TCBZ-susceptible Sunny Corner laboratory isolate. Overall nucleotide diversity for all flukes analysed of 0.00516 and 0.00336 was estimated for the NAD1 and COX1 genes respectively. Eighteen distinct haplotypes were established for the NAD1 gene and six haplotypes for the COX1 gene, resulting in haplotype diversity levels of 0.832 and 0.482, respectively. One field isolate showed a similar low level of haplotype diversity as seen in the Sunny Corner laboratory isolate. Analysis of TCBZ-resistant infrapopulations from 3 individual cattle grazing one property revealed considerable sequence parasite diversity between cattle. Analysis of parasite TCBZ-resistant infrapopulations from sheep and cattle revealed haplotypes unique to each host, but no significant difference between parasite populations. Fst analysis of fluke populations revealed little differentiation between the resistant and field populations. This study has revealed a high level of diversity in field and drug resistant flukes in South-Eastern Australia. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. The Impact of Contextual Clue Selection on Inference

    Directory of Open Access Journals (Sweden)

    Leila Barati

    2010-05-01

    Full Text Available Linguistic information can be conveyed in the form of speech and written text, but it is the content of the message that is ultimately essential for higher-level processes in language comprehension, such as making inferences and associations between text information and knowledge about the world. Linguistically, inference is the shovel that allows receivers to dig meaning out from the text with selecting different embedded contextual clues. Naturally, people with different world experiences infer similar contextual situations differently. Lack of contextual knowledge of the target language can present an obstacle to comprehension (Anderson & Lynch, 2003. This paper tries to investigate how true contextual clue selection from the text can influence listener’s inference. In the present study 60 male and female teenagers (13-19 and 60 male and female young adults (20-26 were selected randomly based on Oxford Placement Test (OPT. During the study two fiction and two non-fiction passages were read to the participants in the experimental and control groups respectively and they were given scores according to Lexile’s Score (LS[1] based on their correct inference and logical thinking ability. In general the results show that participants’ clue selection based on their personal schematic references and background knowledge differ between teenagers and young adults and influence inference and listening comprehension. [1]- This is a framework for reading and listening which matches the appropriate score to each text based on degree of difficulty of text and each text was given a Lexile score from zero to four.

  7. Cribriform pattern in brain MRI: A diagnostic clue for mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Shamick Biswas

    2013-11-01

    Full Text Available Mucopolysaccharidoses (MPS represents a heterogeneous group of inherited lysosomal storage disorders characterised by defective degradation of long-chain complex carbohydrates called glycosoaminoglycans (GAGs. To date, 11 distinct types of MPS have been described, each as a result of deficient enzymatic activity of specific lysosomal hydrolase. The most common types are Hurler and Hunter syndromes. We report a case of a child presenting with macrocephaly, clinically suspected to be due to hydrocephalus. An MRI (3 Tesla brain study demonstrated the cribriform pattern in the brain caused by dilated perivascular spaces, which is a diagnostic clue for the presence of MPS.

  8. Critical Effects of Urbanization on a Charismatic Carnivore: Genetic Change, Disease and Toxicant Exposure, and Disease Susceptibility in Bobcat Populations in an Urban, Fragmented Landscape

    OpenAIRE

    Serieys, Laurel EK

    2014-01-01

    Urbanization has profound ecological impacts that reach beyond city boundaries. Obvious ecological consequences of urbanization include habitat loss and fragmentation. Anthropogenic barriers reduce habitat connectivity, impede gene flow between populations and accelerate the loss of genetic diversity in populations due to drift. Urbanization may have also cryptic consequences such as the effects of human-introduced toxicants on wildlife populations. Toxicants are a leading cause of population...

  9. Morphological clues to the appropriate recognition of hereditary renal neoplasms.

    Science.gov (United States)

    Moch, Holger; Ohashi, Riuko; Gandhi, Jatin S; Amin, Mahul B

    2018-02-14

    An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. This review provides a comprehensive review of the known sub-types of renal cell carcinoma that have a predilection to occur in the setting of hereditary disease; examples include renal cancers occurring in the background of von Hippel Lindau disease, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis, Birt Hogg Dube syndrome and succinate dehydrogenase deficiency. Herein we focus on diagnostic clues for renal tumors occurring in a non-pediatric setting that should prompt their correct recognition and reiterate the importance of the correct diagnosis. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Mannose-Binding Lectin Gene, MBL2, Polymorphisms Do Not Increase Susceptibility to Invasive Meningococcal Disease in a Population of Danish Children

    DEFF Research Database (Denmark)

    Lundbo, Lene F; Sørensen, Henrik T.; Clausen, Louise Nygaard

    2015-01-01

    of the innate immune system may predispose to invasive meningococcal disease (IMD). In this study, we investigated the effect of genetic variation in the mannose-binding lectin gene, MBL2, and its promoter on susceptibility to IMD and IMD-associated mortality among children. Methods.  Children (...Background.  Neisseria meningitidis is the cause of meningococcal bacteremia and meningitis, and nasopharyngeal colonization with this pathogen is common. The incidence of invasive disease is highest in infants, whereas adolescents more often are carriers. Altered regulation or dysfunction...

  11. Polymorphisms of heat shock protein 70 genes (HSPA1A, HSPA1B and HSPA1L and susceptibility of noise-induced hearing loss in a Chinese population: A case-control study.

    Directory of Open Access Journals (Sweden)

    Yanhong Li

    Full Text Available Noise-induced hearing loss (NIHL is the second-most frequent form of sensorineural hearing loss. When exposed to the same noise, some workers develop NIHL while others do not, suggesting that NIHL may be associated with genetic factors. To explore the relationship between single nucleotide polymorphisms (SNPs in heat shock protein 70 (HSP70 genes (HSPA1A, HSPA1B and HSPA1L and susceptibility to NIHL in Han Chinese workers exposed to noise, a case-control association study was carried out with 286 hearing loss cases and 286 matched with gender, age, type of work, and exposure time, drawn from a population of 3790 noise-exposed workers. Four SNPs were selected and genotyped. Subsequently, the effects of the alleles and genotypes of the three HSP70 genes (HSPA1A, HSPA1B and HSPA1L on NIHL were analyzed by using a conditional logistic regression. A generalized multiple dimensionality reduction (GMDR was applied to further detect an interaction between the four SNPs. Compared with the combined genotypes CC/TC, carriers of the TT genotype of rs2763979 appeared to show greater susceptibility to NIHL (P = 0.042, adjusted OR = 1.731, 95% CI 1.021-2.935. A significant interaction between rs2763979 and CNE was found (P = 0.029, and a significant association was found between TT of s2763979 and NIHL (P = 0.024, adjusted OR = 5.694, 95%CI 1.256-25.817 in the 96 dB (A≤CNE<101 dB (A group. The results suggest that the rs2763979 locus of the HSP70 genes may be associated with susceptibility to NIHL in Chinese individuals, and other HSP70 genes may also be susceptibility genes for NIHL, but the results must be further replicated in additional independent sample sets.

  12. Smoking status and gene susceptibility play important roles in the development of chronic obstructive pulmonary disease and lung function decline: A population-based prospective study.

    Science.gov (United States)

    Zhao, Junling; Li, Miao; Chen, Jinkun; Wu, Xiaomei; Ning, Qin; Zhao, Jianping; Xu, Yongjian; Xie, Jungang; Yu, Jun

    2017-06-01

    We conducted this study to identify the influences and synergistic effects of smoking status and polymorphisms in hedgehog interacting protein (HHIP) on chronic obstructive pulmonary disease (COPD) and lung function decline. A cohort containing 306 COPD patients and 743 healthy subjects was recruited from 25,000 subjects. All selected subjects had chronic cough for over 2 years or a smoking history above 20 pack-years. After 8 years, all subjects were divided into 2 cohorts according to whether they had quit smoking or not. A follow-up of all patients was completed after another period of 10 years. Three variants in HHIP were genotyped to investigate the impacts of gene susceptibility on the development of COPD and lung function decline. During the follow-up tests, forced expiratory volume in 1 s (FEV1) ratios decreased more significantly in COPD patients than in healthy subjects. For variant rs7654947, FEV1 decreased more significantly in CC and CT subjects than in TT subjects. FEV1 in COPD patients with a CC genotype from smoking cohorts reduced markedly when compared to ex-smoking cohorts (case, 30.75% vs. 35.5%; total, 28% vs. 32%). Our results showed that smoking and HHIP variant rs7654947 were associated with COPD development and lung function decline. Moreover, we found that cigarette smoking and gene susceptibility have cooperative effects on COPD risk and lung function decline.

  13. The Environmental Acinetobacter baumannii Isolate DSM30011 Reveals Clues into the Preantibiotic Era Genome Diversity, Virulence Potential, and Niche Range of a Predominant Nosocomial Pathogen

    Science.gov (United States)

    Viale, Alejandro M.; Borges, Vítor; Cameranesi, María M.; Taib, Najwa; Espariz, Martín; Brochier-Armanet, Céline; Gomes, João Paulo; Salcedo, Suzana P.

    2017-01-01

    Abstract Acinetobacter baumannii represents nowadays an important nosocomial opportunistic pathogen whose reservoirs outside the clinical setting are obscure. Here, we traced the origins of the collection strain A. baumannii DSM30011 to an isolate first reported in 1944, obtained from the enriched microbiota responsible of the aerobic decomposition of the resinous desert shrub guayule. Whole-genome sequencing and phylogenetic analysis based on core genes confirmed DSM30011 affiliation to A. baumannii. Comparative studies with 32 complete A. baumannii genomes revealed the presence of 12 unique accessory chromosomal regions in DSM30011 including five encompassing phage-related genes, five containing toxin genes of the type-6 secretion system, and one with an atypical CRISPRs/cas cluster. No antimicrobial resistance islands were identified in DSM30011 agreeing with a general antimicrobial susceptibility phenotype including folate synthesis inhibitors. The marginal ampicillin resistance of DSM30011 most likely derived from chromosomal ADC-type ampC and blaOXA-51-type genes. Searching for catabolic pathways genes revealed several clusters involved in the degradation of plant defenses including woody tissues and a previously unreported atu locus responsible of aliphatic terpenes degradation, thus suggesting that resinous plants may provide an effective niche for this organism. DSM30011 also harbored most genes and regulatory mechanisms linked to persistence and virulence in pathogenic Acinetobacter species. This strain thus revealed important clues into the genomic diversity, virulence potential, and niche ranges of the preantibiotic era A. baumannii population, and may provide an useful tool for our understanding of the processes that led to the recent evolution of this species toward an opportunistic pathogen of humans. PMID:28934377

  14. Susceptibility Status of Anopheles gambiae s.l. (Diptera: Culicidae ...

    African Journals Online (AJOL)

    komla

    susceptible 'Kisumu' strain, both Korle-Bu and Airport populations were highly resistant to DDT and gave resistance levels which were over nine-fold for permethrin and over 2.5-fold for deltamethrin. Both wild and susceptible populations showed full susceptibility to malathion. The S and M forms of A. gambiae s.s. were ...

  15. Inherited susceptibility and radiation exposure

    International Nuclear Information System (INIS)

    Little, J.B.

    1997-01-01

    There is continuing concern that some people in the general population may have genetic makeups that place them at particularly high risk for radiation-induced cancer. The existence of such a susceptible subpopulation would have obvious implications for the estimation of risks of radiation exposure. Although it has been long known that familial aggregations of cancer do sometimes occur, recent evidence suggests that a general genetic predisposition to cancer does not exist; most cancers occur sporadically. On the other hand, nearly 10% of the known Mendelian genetic disorders are associated with cancer. A number of these involve a familial predisposition to cancer, and some are characterized by an enhanced susceptibility to the induction of cancer by various physical and chemical carcinogens, including ionizing radiation. Such increased susceptibility will depend on several factors including the frequency of the susceptibility gene in the population and its penetrance, the strength of the predisposition, and the degree to which the cancer incidence in susceptible individuals may be increased by the carcinogen. It is now known that these cancer-predisposing genes may be responsible not only for rare familial cancer syndromes, but also for a proportion of the common cancers. Although the currently known disorders can account for only a small fraction of all cancers, they serve as models for genetic predisposition to carcinogen-induced cancer in the general population. In the present report, the author describes current knowledge of those specific disorders that are associated with an enhanced predisposition to radiation-induced cancer, and discusses how this knowledge may bear on the susceptibility to radiation-induced cancer in the general population and estimates of the risk of radiation exposure

  16. Population.

    Science.gov (United States)

    International Planned Parenthood Federation, London (England).

    In an effort to help meet the growing interest and concern about the problems created by the rapid growth of population, The International Planned Parenthood Federation has prepared this booklet with the aim of assisting the study of the history and future trends of population growth and its impact on individual and family welfare, national,…

  17. MACF1 gene variant rs2296172 is associated with type 2 diabetes susceptibility in the Bania population group of Punjab - India

    Directory of Open Access Journals (Sweden)

    Varun Sharma

    2017-10-01

    Full Text Available Microtubule Actin Cross linking Factor 1 (MACF1 gene variant rs2296172 has been associated with Type 2 Diabetes (T2D. However, this variant has never been evaluated as such in Indian populations. We replicated this variant in pooled population of Northwest India and specifically in an endogamous caste group, Bania  of Punjab, India. We genotyped variant rs2296172 by Taqman allele discrimination assay in 651 T2D patients and in 568 healthy controls from Northwest India. The association of the SNP with T2D was evaluated by case - control association study design. The SNP rs2296172 of MACF1 was found to be significantly associated with T2D with p value = 0.009 in Northwest Indian population but allelic distribution was observed to be deviated from Hardy-Weinberg equilibrium (HWE. Assuming population stratification the most plausible cause, we further evaluated the samples belonging to Bania caste group from Punjab, India. We observed significant association of this SNP with T2D with OR = 1.71 (1.03-2.83 at 95%CI, (p =0.03 and sample set following HWE. MACF1 variant rs2296172 was found to be associated with T2D in endogamous ethnic population group (Bania of Punjab, India. Deviation from Hardy-Weinberg equilibrium in the pooled population group from Northwest India, underlines that Indian population sub structure exists and may have implications in association studies. Thus, ideal case - control association study design in Indian populations is to evaluate endogamous population groups rather than the conventional practice of pooling samples based on geography or linguistic affinities only.

  18. Polymorphisms in the SP110 and TNF-α Gene and Susceptibility to Pulmonary and Spinal Tuberculosis among Southern Chinese Population

    Directory of Open Access Journals (Sweden)

    Ying Zhou

    2017-01-01

    Full Text Available Objective. To investigate the association of single-nucleotide polymorphisms (SNPs in SP110 gene and TNF-α gene among pulmonary TB (PTB and spinal TB (STB patients. Methods. In a total of 190 PTB patients, 183 STB patients were enrolled as the case group and 362 healthy individuals at the same geographical region as the control group. The SP110 SNPs (rs722555 and rs1135791 and the promoter -308G>A (rs1800629 and -238G>A (rs361525 polymorphisms in TNF-α were genotyped. Results. TNF-α -238G>A polymorphism was involved in susceptibility to STB, but not to PTB. The TNF-α -238 A allele was a protective factor against STB (A versus G: OR [95% CI] = 0.331 [0.113–0.972], P=0.044. Furthermore, the presence of the -238 A allele was considered a trend to decrease the risk of STB (AG versus GG: P=0.062, OR [95% CI] = 0.352 [0.118–1.053]; AA + AG versus GG: P=0.050, OR [95CI%] = 0.335 [0.113–0.999]. However, SP110 SNPs (rs722555 and rs1135791 and TNF-α -308G>A (rs1800629 showed no association with PTB and STB in all genetic models. Conclusion. The TNF-α -238 A allele appeared a protective effect against STB, whereas the SP110 SNPs (rs722555 and rs1135791 and TNF-α -308G>A (rs1800629 showed no association with susceptibility to PTB and STB patients in southern China.

  19. Psychometric evaluation of the Swedish version of the pure procrastination scale, the irrational procrastination scale, and the susceptibility to temptation scale in a clinical population

    OpenAIRE

    Rozental, Alexander; Forsell, Erik; Svensson, Andreas; Forsstr?m, David; Andersson, Gerhard; Carlbring, Per

    2014-01-01

    Background Procrastination is a prevalent self-regulatory failure associated with stress and anxiety, decreased well-being, and poorer performance in school as well as work. One-fifth of the adult population and half of the student population describe themselves as chronic and severe procrastinators. However, despite the fact that it can become a debilitating condition, valid and reliable self-report measures for assessing the occurrence and severity of procrastination are lacking, particular...

  20. Terror from the sky: unconventional linguistic clues to the negrito past.

    Science.gov (United States)

    Blust, Robert

    2013-01-01

    Within recorded history, most Southeast Asian peoples have been of "southern Mongoloid" physical type, whether they speak Austroasiatic, Tibeto-Burman, Austronesian, Tai-Kadai, or Hmong-Mien languages. However, population distributions suggest that this is a post-Pleistocene phenomenon and that for tens of millennia before the last glaciation ended Greater Mainland Southeast Asia, which included the currently insular world that rests on the Sunda Shelf, was peopled by short, dark-skinned, frizzy-haired foragers whose descendants in the Philippines came to be labeled by the sixteenth-century Spanish colonizers as "negritos," a term that has since been extended to similar groups throughout the region. There are three areas in which these populations survived into the present so as to become part of written history: the Philippines, the Malay Peninsula, and the Andaman Islands. All Philippine negritos speak Austronesian languages, and all Malayan negritos speak languages in the nuclear Mon-Khmer branch of Austroasiatic, but the linguistic situation in the Andamans is a world apart. Given prehistoric language shifts among both Philippine and Malayan negritos, the prospects of determining whether disparate negrito populations were once a linguistically or culturally unified community would appear hopeless. Surprisingly, however, some clues to a common negrito past do survive in a most unexpected way. Copyright © 2013 Wayne State University Press, Detroit, Michigan 48201-1309.

  1. RETRACTED: Relationship between the ACE I/D gene polymorphism and T1DN susceptibility/risk of T1DM developing into T1DN in the Caucasian population.

    Science.gov (United States)

    Zhou, Tian-Biao; Guo, Xue-Feng; Jiang, Zongpei; Li, Hong-Yan

    2015-12-01

    The following article has been included in a multiple retraction: Tian-Biao Zhou, Xue-Feng Guo, Zongpei Jiang, and Hong-Yan Li Relationship between the ACE I/D gene polymorphism and T1DN susceptibility/risk of T1DM developing into T1DN in the Caucasian population Journal of Renin-Angiotensin-Aldosterone System 1470320314563425, first published on February 1, 2015 doi: 10.1177/1470320314563425 This article has been retracted at the request of the Editors and the Publisher. After conducting a thorough investigation, SAGE found that the submitting authors of a number of papers published in the Journal of the Renin-Angiotensin Aldosterone System ( JRAAS) (listed below) had supplied fabricated contact details for their nominated reviewers. The Editors accepted these papers based on the reports supplied by the individuals using these fake reviewer email accounts. After concluding that the peer review process was therefore seriously compromised, SAGE and the journal Editors have decided to retract all affected articles. Online First articles (these articles will not be published in an issue) Wenzhuang Tang, Tian-Biao Zhou, and Zongpei Jiang Association of the angiotensinogen M235T gene polymorphism with risk of diabetes mellitus developing into diabetic nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563426, first published on December 18, 2014 doi: 10.1177/1470320314563426 Tian-Biao Zhou, Hong-Yan Li, Zong-Pei Jiang, Jia-Fan Zhou, Miao-Fang Huang, and Zhi-Yang Zhou Role of renin-angiotensin-aldosterone system inhibitors in radiation nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563424, first published on December 18, 2014 doi: 10.1177/1470320314563424 Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January

  2. RETRACTED: Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population.

    Science.gov (United States)

    Zhong, Weiqiang; Jiang, Zongpei; Zhou, Tian-Biao

    2015-12-01

    This article has been included in a multiple retraction: Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January 26, 2015 doi: 10.1177/1470320314566019 This article has been retracted at the request of the Editors and the Publisher. After conducting a thorough investigation, SAGE found that the submitting authors of a number of papers published in the Journal of the Renin-Angiotensin Aldosterone System ( JRAAS) (listed below) had supplied fabricated contact details for their nominated reviewers. The Editors accepted these papers based on the reports supplied by the individuals using these fake reviewer email accounts. After concluding that the peer review process was therefore seriously compromised, SAGE and the journal Editors have decided to retract all affected articles. Online First articles (these articles will not be published in an issue) Wenzhuang Tang, Tian-Biao Zhou, and Zongpei Jiang Association of the angiotensinogen M235T gene polymorphism with risk of diabetes mellitus developing into diabetic nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563426, first published on December 18, 2014 doi: 10.1177/1470320314563426 Tian-Biao Zhou, Hong-Yan Li, Zong-Pei Jiang, Jia-Fan Zhou, Miao-Fang Huang, and Zhi-Yang Zhou Role of renin-angiotensin-aldosterone system inhibitors in radiation nephropathy Journal of Renin-Angiotensin-Aldosterone System 1470320314563424, first published on December 18, 2014 doi: 10.1177/1470320314563424 Weiqiang Zhong, Zongpei Jiang, and Tian-Biao Zhou Association between the ACE I/D gene polymorphism and T2DN susceptibility: The risk of T2DM developing into T2DN in the Asian population Journal of Renin-Angiotensin-Aldosterone System 1470320314566019, first published on January 26, 2015 doi: 10

  3. A variant upstream of HLA-DRB1 and multiple variants in MICA influence susceptibility to cervical cancer in a Swedish population.

    Science.gov (United States)

    Chen, Dan; Hammer, Joanna; Lindquist, David; Idahl, Annika; Gyllensten, Ulf

    2014-02-01

    In a genome-wide association study, we have previously identified and performed the initial replication of three novel susceptibility loci for cervical cancer: rs9272143 upstream of HLA-DRB1, rs2516448 adjacent to MHC class I polypeptide-related sequence A gene (MICA), and rs3117027 at HLA-DPB2. The risk allele T of rs2516448 is in perfect linkage disequilibrium with a frameshift mutation (A5.1) in MICA exon 5, which results in a truncated protein. To validate these associations in an independent study and extend our prior work to MICA exon 5, we genotyped the single-nucleotide polymorphisms at rs9272143, rs2516448, rs3117027 and the MICA exon 5 microsatellite in a nested case-control study of 961 cervical cancer patients (827 carcinoma in situ and 134 invasive carcinoma) and 1725 controls from northern Sweden. The C allele of rs9272143 conferred protection against cervical cancer (odds ratio [OR] = 0.73, 95% confidence interval [CI] = 0.65-0.82; P = 1.6 × 10(-7)), which is associated with higher expression level of HLA-DRB1, whereas the T allele of rs2516448 increased the susceptibility to cervical cancer (OR = 1.33, 95% CI = 1.19-1.49; P = 5.8 × 10(-7)), with the same association shown with MICA-A5.1. The direction and the magnitude of these associations were consistent with our previous findings. We also identified protective effects of the MICA-A4 (OR = 0.80, 95% CI = 0.68-0.94; P = 6.7 × 10(-3)) and MICA-A5 (OR = 0.60, 95% CI = 0.50-0.72; P = 3.0 × 10(-8)) alleles. The associations with these variants are unlikely to be driven by the nearby human leukocyte antigen (HLA) alleles. No association was observed between rs3117027 and risk of cervical cancer. Our results support the role of HLA-DRB1 and MICA in the pathogenesis of cervical cancer. © 2014 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  4. Interactions between the vascular endothelial growth factor gene polymorphism and life events in susceptibility to major depressive disorder in a Chinese population.

    Science.gov (United States)

    Han, Dong; Qiao, Zhengxue; Chen, Lu; Qiu, Xiaohui; Fang, Deyu; Yang, Xiuxian; Ma, Jingsong; Chen, Mingqi; Yang, Jiarun; Wang, Lin; Zhu, Xiongzhao; Zhang, Congpei; Yang, Yanjie; Pan, Hui

    2017-08-01

    Recent studies suggest that vascular endothelial growth factor (VEGF) is involved in the development of major depressive disorder. The aim of this study is to investigate the interaction between vascular endothelial growth factor (VEGF) polymorphism (+405G/C, rs2010963) and negative life events in the pathogenesis of major depressive disorder (MDD). DNA genotyping was performed on peripheral blood leukocytes in 274 patients with MDD and 273 age-and sex-matched controls. The frequency and severity of negative life events were assessed by the Life Events Scale (LES). A logistics method was employed to assess the gene-environment interaction (G×E). Differences in rs2010963 genotype distributions were observed between MDD patients and controls. Significant G×E interactions between allelic variation of rs2010963 and negative life events were observed. Individuals carrying the C alleles were susceptible to MDD only when exposed to high-negative life events. These results indicate that interactions between the VEGF rs2010963 polymorphism and environment increases the risk of developing MDD. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Single Nucleotide Polymorphism rs10919543 in FCGR2A/FCGR3A Region Confers Susceptibility to Takayasu Arteritis in Chinese Population

    Directory of Open Access Journals (Sweden)

    Fang Qin

    2016-01-01

    Conclusions: Our findings revealed unique genetic pattern in Chinese TA patients that may be partly responsible for the higher risk of TA in this population. FCGR2A/FCGR3A-related immune disorder might contribute to the etiology of TA.

  6. Biological Characteristics of Experimental Genotype Mixtures of Cydia Pomonella Granulovirus (CpGV): Ability to Control Susceptible and Resistant Pest Populations.

    Science.gov (United States)

    Graillot, Benoit; Bayle, Sandrine; Blachere-Lopez, Christine; Besse, Samantha; Siegwart, Myriam; Lopez-Ferber, Miguel

    2016-05-21

    The detection of resistance in codling moth (Cydia pomonella) populations against the Mexican isolate of its granulovirus (CpGV-M), raised questions on the sustainability of the use of this biological insecticide. In resistant host cells, CpGV-M is not able to complete its replication cycle because replication is blocked at an early step. Virus isolates able to overcome this resistance have been characterized-among them, the CpGV-R5 isolate. In mixed infections on resistant insects, both CpGV-M and CpGV-R5 viruses replicate, while CpGV-M alone does not induce mortality. Genetically heterogeneous virus populations, containing 50% of each CpGV-M and CpGV-R5 appear to control resistant host populations as well as CpGV-R5 alone at the same final concentration, even if the concentration of CpGV-R5 is only half in the former. The use of mixed genotype virus preparations instead of genotypically homogeneous populations may constitute a better approach than traditional methods for the development of baculovirus-based biological insecticides.

  7. Biological Characteristics of Experimental Genotype Mixtures of Cydia Pomonella Granulovirus (CpGV: Ability to Control Susceptible and Resistant Pest Populations

    Directory of Open Access Journals (Sweden)

    Benoit Graillot

    2016-05-01

    Full Text Available The detection of resistance in codling moth (Cydia pomonella populations against the Mexican isolate of its granulovirus (CpGV-M, raised questions on the sustainability of the use of this biological insecticide. In resistant host cells, CpGV-M is not able to complete its replication cycle because replication is blocked at an early step. Virus isolates able to overcome this resistance have been characterized—among them, the CpGV-R5 isolate. In mixed infections on resistant insects, both CpGV-M and CpGV-R5 viruses replicate, while CpGV-M alone does not induce mortality. Genetically heterogeneous virus populations, containing 50% of each CpGV-M and CpGV-R5 appear to control resistant host populations as well as CpGV-R5 alone at the same final concentration, even if the concentration of CpGV-R5 is only half in the former. The use of mixed genotype virus preparations instead of genotypically homogeneous populations may constitute a better approach than traditional methods for the development of baculovirus-based biological insecticides.

  8. Identification of highly susceptible individuals in complex networks

    Science.gov (United States)

    Tang, Shaoting; Teng, Xian; Pei, Sen; Yan, Shu; Zheng, Zhiming

    2015-08-01

    Identifying highly susceptible individuals in spreading processes is of great significance in controlling outbreaks. In this paper, we explore the susceptibility of people in susceptible-infectious-recovered (SIR) and rumor spreading dynamics. We first study the impact of community structure on people's susceptibility. Although the community structure can reduce the number of infected people for same infection rate, it will not significantly affect nodes' susceptibility. We find the susceptibility of individuals is sensitive to the choice of spreading dynamics. For SIR spreading, since the susceptibility is highly correlated to nodes' influence, the topological indicator k-shell can better identify highly susceptible individuals, outperforming degree, betweenness centrality and PageRank. In contrast, in rumor spreading model, where nodes' susceptibility and influence have no clear correlation, degree performs the best among considered topological measures. Our finding highlights the significance of both topological features and spreading mechanisms in identifying highly susceptible population.

  9. Glutathione S-transferase P1, gene-gene interaction, and lung cancer susceptibility in the Chinese population: An updated meta-analysis and review

    Directory of Open Access Journals (Sweden)

    Xue-Ming Li

    2015-01-01

    Full Text Available Aim of Study: To assess the impact of glutathione S-transferase P1 (GSTP1 Ile105Val polymorphism on the risk of lung cancer in the Chinese population, an updated meta-analysis and review was performed. Materials and Methods: Relevant studies were identified from PubMed, Springer Link, Ovid, Chinese Wanfang Data Knowledge Service Platform, Chinese National Knowledge Infrastructure, and Chinese Biology Medicine published through January 22, 2015. The odds ratios (ORs and 95% confidence intervals (CIs were calculated to estimate the strength of the associations. Results: A total of 13 case-control studies, including 2026 lung cancer cases and 2451 controls, were included in this meta-analysis. Overall, significantly increased lung cancer risk was associated with the variant genotypes of GSTP1 polymorphism in the Chinese population (GG vs. AA: OR = 1.36, 95% CI = 1.01-1.84. In subgroup analyses stratified by geographic area and source of controls, the significant results were found in population-based studies (GG vs. AA: OR = 1.62, 95% CI: 1.13-2.31; GG vs. AG: OR = 1.49, 95% CI: 1.03-2.16; GG vs. AA + AG: OR = 1.55, 95% CI: 1.12-2.26. A gene-gene interaction analysis showed that there was an interaction for individuals with combination of GSTM1 (or GSTT1 null genotype and GSTP1 (AG + GG mutant genotype for lung cancer risk in Chinese. Conclusion: This meta-analysis suggests that GSTP1 Ile105Val polymorphism may increase the risk of lung cancer in the Chinese population.

  10. Linkage analysis: Inadequate for detecting susceptibility loci in complex disorders?

    Energy Technology Data Exchange (ETDEWEB)

    Field, L.L.; Nagatomi, J. [Univ. of Calgary, Alberta (Canada)

    1994-09-01

    Insulin-dependent diabetes mellitus (IDDM) may provide valuable clues about approaches to detecting susceptibility loci in other oligogenic disorders. Numerous studies have demonstrated significant association between IDDM and a VNTR in the 5{prime} flanking region of the insulin (INS) gene. Paradoxically, all attempts to demonstrate linkage of IDDM to this VNTR have failed. Lack of linkage has been attributed to insufficient marker locus information, genetic heterogeneity, or high frequency of the IDDM-predisposing allele in the general population. Tyrosine hydroxylase (TH) is located 2.7 kb from INS on the 5` side of the VNTR and shows linkage disequilibrium with INS region loci. We typed a highly polymorphic microsatellite within TH in 176 multiplex families, and performed parametric (lod score) linkage analysis using various intermediate reduced penetrance models for IDDM (including rare and common disease allele frequencies), as well as non-parametric (affected sib pair) linkage analysis. The scores significantly reject linkage for recombination values of .05 or less, excluding the entire 19 kb region containing TH, the 5{prime} VNTR, the INS gene, and IGF2 on the 3{prime} side of INS. Non-parametric linkage analysis also provided no significant evidence for linkage (mean TH allele sharing 52.5%, P=.12). These results have important implications for efforts to locate genes predisposing to complex disorders, strongly suggesting that regions which are significantly excluded by linkage methods may nevertheless contain predisposing genes readily detectable by association methods. We advocate that investigators routinely perform association analyses in addition to linkage analyses.

  11. Clues to patients' explanations and concerns about their illnesses. A call for active listening.

    Science.gov (United States)

    Lang, F; Floyd, M R; Beine, K L

    2000-03-01

    Most patients who experience illness symptoms develop an explanatory model. More frequently than physicians realize, these attributions involve serious and potentially life-threatening medical conditions. Only a minority of patients spontaneously disclose or "offer" their ideas, concerns, and expectations. Often patients suggest or imply their ideas through "clues." Active listening is a skill for recognizing and exploring patients' clues. Without this communication skill, patients' real concerns often go unrecognized by health care professionals. Qualitative techniques including videotape analysis, postinterviewing debriefing, and interpersonal process recall were used to identify types of clues. We propose a taxonomy of clues that includes (1) expression of feelings (especially concern or worry), (2) attempts to understand or explain symptoms, (3) speech clues that underscore particular concerns of the patient, (4) personal stories that link the patient with medical conditions or risks, and (5) behaviors suggestive of unresolved concerns or unmet expectations. This clue taxonomy will help physicians recognize patients' clues more readily and thereby improve their active listening skills. A deeper understanding of the true reasons for the visit should result in increased patient satisfaction and improved outcomes.

  12. Susceptibilidade larval de populações de Aedes aegypti e Culex quinquefasciatus a inseticidas químicos Larval susceptibility of Aedes aegypti and Culex quinquefasciatus populations to chemical insecticides

    Directory of Open Access Journals (Sweden)

    Jairo Campos

    2003-08-01

    Grande, Mato Grosso do Sul, MS, and Cuiabá, Mato Grosso, MT, in Brazil, subjected to such treatments. RESULTS: Tests for Culex quinquefasciatus larvae from Campinas, SP, allowed suspicion of resistance to cypermethrin and gave evidence of resistance to cyfluthrin. Larvae of this species collected in Campo Grande, MS, and Campinas, SP, presented resistance to temephos. For the colony from the latter locality, the following resistance rates were established: RR50=6.36 and RR95=4.94, in relation to a standard susceptible strain. Moreover, tests for Aedes aegypti showed similar susceptibility to temephos for a field population from Cuiabá, MT, and a laboratory population. CONCLUSIONS: The results indicate resistance of Culex quinquefasciatus to organophosphate and pyrethroid insecticides and make evident the need for evaluation and monitoring of the efficiency of insecticides to be used in mosquito control programs.

  13. Effects of 30% and 50% Cigarette Pack Graphic Warning Labels on Visual Attention, Negative Affect, Quit Intentions, and Smoking Susceptibility among Disadvantaged Populations in the United States.

    Science.gov (United States)

    Skurka, Chris; Kemp, Deena; Davydova, Julie; Thrasher, James F; Byrne, Sahara; Greiner Safi, Amelia; Avery, Rosemary J; Dorf, Michael C; Mathios, Alan D; Scolere, Leah; Niederdeppe, Jeff

    2017-11-04

    Though the WHO Framework Convention for Tobacco Control (FCTC) calls for the implementation of large graphic warning labels on cigarette boxes (GWLs), the courts have blocked the implementation of 50% labels in the U.S. We conducted an experiment to explore whether changing the size of GWLs is associated with changes in visual attention, negative affect, risk beliefs, and behavioral intentions. We recruited adult smokers (N = 238) and middle-school youth (N = 237) throughout New York state in May 2016. We randomly assigned participants to one of three between-subjects conditions (no GWL [control], 30% GWL, 50% GWL). Adult and youth participants looked at the GWLs longer when the GWL covered 50% versus 30% of the pack's front. Increasing GWL size from 30 to 50 percent did not influence negative affect or risk beliefs, though both GWL sizes increased negative affect relative to the no-GWL control group. Exposure to 50% GWLs increased adult smokers' intentions to quit compared to no-GWL, but smokers exposed to 30% GWLs did not differ from control. There were no differences between 50% GWLs, 30% GWLs, or control on youth smoking susceptibility. Findings provide some evidence of the benefits of a 50 versus 30 percent GWL covering the front of the pack for adult smokers and at-risk youth from socioeconomically disadvantaged backgrounds-though not on all outcomes. This research shows that 30% GWLs on cigarette packages increase negative affect relative to packages without front-of-package GWLs. Larger GWLs on cigarette packages (50% versus 30%) increase visual attention to the warning and its pictorial content among low-SES smokers and at-risk youth but do not further increase negative affect. A 50% GWL increased adults' quit intention compared to no GWL at all, but we were underpowered to detect modest differences in quit intentions between a 50% and 30% GWL. Future work should thus continue to explore the boundary conditions under which relatively larger GWLs influence

  14. Association between the Interaction of Key Genes Involved in Effector T-Cell Pathways and Susceptibility to Develop allergic Rhinitis: A Population-Based Case-Control Association Study.

    Directory of Open Access Journals (Sweden)

    Yuan Zhang

    Full Text Available Evidence suggests that interaction between key genes mediating signaling and transcriptional networks involving effector T-cell responses may influence an individual's susceptibility to develop allergic rhinitis(AR.The aim of this study was todetermine whether specific interactions between key genes involved in effector T-cell pathways are associated with an individual's susceptibility to develop AR in Han Chinese subjects.A cohort of 489 patients with AR and 421 healthy controls was enrolled from the Han Chinese population in Beijing, China. AR was established by questionnaire and clinical examination, and peripheral blood was drawn from all subjects for DNA extraction. A total of 96 single nucleotide polymorphisms (SNPs in 26 reprehensive candidate genes involved in T helper 1 (Th1, Th2, Th17, Th9 and T regulatory cell pathways were selected from the International Haplotype Mappingdatabase for Han Chinese in Beijing (CHB population, and IlluminaGoldenGate assay was conducted for SNP genotyping. The PLINK software package was used to perform statistical analyses.Simple SNP-phenotype association analysis using logistic regression showed SNP rs8193036 in IL17A gene, rs2569254 in IL-12 and rs1898413 in RORα weresignificantlyassociatedwith AR.Simple SNP-phenotype association analysis with genetic models demonstrated thatrs2569254 in IL-12, rs1031508 in STAT4, and rs3741809 in IL-26 were likely to be recessive, rs8193036 in IL17A allelic, rs897200in STAT4 genotypic, and rs1898413 in RORα dominant. Epistasis analyses exhibited that 83 SNPs in 23 genes were significantly interactive; of which 59 interactions/SNP pairs demonstrated OR values higher than 2 or lower than 0.5, and 12 interactions/SNP pairs OR values higher than 4 or lower than 0.25. STAT3, RORα and IL-26, involved in Th17 pathway,were the mostfrequentlyinteractive genes.This study suggests that interactions between several SNPs in key genes involved in effector T-cell pathways are

  15. Focal Atrichia: A Diagnostic Clue in Female Pattern Hair Loss.

    Science.gov (United States)

    Olsen, Elise A; Whiting, David A

    2017-10-07

    Focal atrichia is a common clinical finding in female pattern hair loss whose specificity and histologic findings need further clarification. To determine the frequency of focal atrichia in various types of hair loss and its histologic characteristics in female pattern hair loss. Part 1: Review of 250 consecutive female patients seen with hair loss for the presence of focal atrichia and Part 2: paired biopsies of haired areas vs focal atrichia in 18 subjects with female pattern hair loss RESULTS: Focal atrichia was seen in 46/104 (44%) of women with female pattern hair loss, including 67% of late onset vs 15% of early onset, compared to 3/146 (2%) of those with other hair disorders Biopsy findings of focal atrichia in female pattern hair loss showed primarily a more progressive miniaturization process than that of haired areas of the scalp. Some women with female pattern hair loss may have had concomitant chronic telogen effluvium CONCLUSIONS: When present, focal atrichia is a clinical clue to the diagnosis of female pattern hair loss, particularly late onset subtype. Copyright © 2017. Published by Elsevier Inc.

  16. Dreaming experience as a useful diagnostic clue for syncopal episodes.

    Science.gov (United States)

    Chiesa, V; Terranova, P; Vignoli, A; Canevini, M P

    2011-11-01

    The differential diagnosis between epileptic seizures and syncopes is a common occurrence in clinical practice. The manifestations of seizure and syncope sometimes overlap, and available diagnostic testing often not provides a conclusive answer. Syncope is often preceded by a symptom complex characterized by lightheadedness, generalized muscle weakness, giddiness, visual blurring, tinnitus, and gastrointestinal symptoms. These subjective symptoms are very important in guiding the diagnosis. In our experience, the impression of coming out of a dream after the syncopal episode is a subjective symptom commonly reported by patients, if questioned. To verify the occurrence of dreaming experience after syncope and after generalized tonic-clonic seizures (GTCS) and its diagnostic value in differential diagnosis, we asked 100 patients with GTCS and diagnosis of idiopathic generalized epilepsy (Group 1) and 100 patients with a certain diagnosis of syncope (Group 2) whether they have never felt the impression of coming out of a dream after the loss of consciousness (GTCS or syncope, respectively). In Group 1, nobody referred the dreaming experience, whereas in the syncope group, 19% of patients referred this subjective symptom. Dreaming experience seems to be an additional useful diagnostic clue for syncopal episodes, helping the clinician to differentiate them from seizures. © 2011 The Author(s). European Journal of Neurology © 2011 EFNS.

  17. Susceptibility of European Pinus sylvestris L. populations to S02, NO 29 S02 +N02 and HF under laboratory and field conditions

    Directory of Open Access Journals (Sweden)

    Jacek Oleksy

    2014-01-01

    Full Text Available Under controlled laboratory conditions, 1-3 year-old Pinus sylvestris seedlings were exposed to SO2 (0.75 mm3 dm-3 x 5 days, 6h daily, NO2, (0.5 mm3 dm-3 x 66 days, 6h daily, SO2 +NO2 (0.25 mm3 dm-3+0.5 mm3 dm-3 x 19 days, 6h daily and HF (0.25 mm3 dm-3 x 4 days, 6h daily. Seedlings of the same provenances had also been outplanted near two types of emission sources which pollute the environment with SO2 and fluorides, and with SO2 and heavy metals. Nitrogen dioxide did not cause visible symptoms of injury to plants. Exposition of plants to the action of other pollutants differentiated the studied populations in respect to the size of needle necroses. In general, northern (Sweden, USSR and southern (Turkey, Yugoslavia populations demonstrated lower sensitivity than pines from the more central parts of the species' range in Europe. A statistically significant correlation was shown between the injuries to seedlings observed in the field and under laboratory conditions.

  18. The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.

    Science.gov (United States)

    Koshy, Teena; Venkatesan, Vettriselvi; Perumal, Venkatachalam; Hegde, Sridevi; Paul, Solomon Franklin Durairaj

    2015-10-01

    Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in folate metabolism and thus may influence the risk of such heart defects. This study was designed to investigate the association of six selected folate-metabolizing gene polymorphisms with the risk of non-syndromic CTHDs in an Indian population. This was a case-control study involving 96 cases of CTHDs and 100 control samples, ranging in age from birth to 18 years. Genotyping using Sanger sequencing was performed for six single nucleotide polymorphisms of genes involved in folate metabolism. Logistic regression analyses revealed that for the 5,10-methylenetetrahydrofolate (MTHFR) A1298C polymorphism, the CC variant homozygote genotype was associated with a significantly increased risk of CTHDs. The results of this study support an association between the inherited MTHFR A1298C genotype and the risk of CTHDs in an Indian population.

  19. Reproductive stage physiological and transcriptional responses to salinity stress in reciprocal populations derived from tolerant (Horkuch) and susceptible (IR29) rice

    Science.gov (United States)

    Razzaque, Samsad; Haque, Taslima; Elias, Sabrina M.; Rahman, Md. Sazzadur; Biswas, Sudip; Schwartz, Scott; Ismail, Abdelbagi M.; Walia, Harkamal; Juenger, Thomas E.; Seraj, Zeba I.

    2017-04-01

    Global increase in salinity levels has made it imperative to identify novel sources of genetic variation for tolerance traits, especially in rice. The rice landrace Horkuch, endemic to the saline coastal area of Bangladesh, was used in this study as the source of tolerance in reciprocal crosses with the sensitive but high-yielding IR29 variety for discovering transcriptional variation associated with salt tolerance in the resulting populations. The cytoplasmic effect of the Horkuch background in leaves under stress showed functional enrichment for signal transduction, DNA-dependent regulation and transport activities. In roots the enrichment was for cell wall organization and macromolecule biosynthesis. In contrast, the cytoplasmic effect of IR29 showed upregulation of apoptosis and downregulation of phosphorylation across tissues relative to Horkuch. Differential gene expression in leaves of the sensitive population showed downregulation of GO processes like photosynthesis, ATP biosynthesis and ion transport. Roots of the tolerant plants conversely showed upregulation of GO terms like G-protein coupled receptor pathway, membrane potential and cation transport. Furthermore, genes involved in regulating membrane potentials were constitutively expressed only in the roots of tolerant individuals. Overall our work has developed genetic resources and elucidated the likely mechanisms associated with the tolerance response of the Horkuch genotype.

  20. Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population

    DEFF Research Database (Denmark)

    Wegner, Lise; Andersen, Gitte; Sparsø, Thomas

    2007-01-01

    . The minor T-allele of rs4641 was nominally associated with type 2 diabetes (odds ratio 1.14 [95% CI 1.03-1.26], P = 0.01) in a study of 1,324 type 2 diabetic patients and 4,386 glucose-tolerant subjects and with elevated fasting plasma glucose levels in a population-based study of 5,395 middle......-aged individuals (P = 0.008). The minor T-allele of rs955383 showed nominal association with obesity in a study of 5,693 treatment-naïve subjects (1.25 [1.07-1.64], P = 0.01), and after dichotomization of waist circumference, the minor alleles of rs955383 and rs11578696 were nominally associated with increased...

  1. Susceptibility to migraine with aura: an analysis of the CACNA1A gene in the population of Valle Central de Costa Rica

    International Nuclear Information System (INIS)

    Rodriguez Porras, Luis Roberto

    2005-01-01

    The aim is to assess the role of the CACNA1A gene in the pathogenesis of migraine with aura, in a population of Valle Central Costa Rica, so as to make a clinical description of patients analyzed. 174 patients (diagnosed with migraine with aura) were studied and both parents with the genetic markers D19S221, D19S1150, D19S226 located at 2.5,0 and 2.5 cM respectively of CACNA1A. The markers were amplified by PCR and examined in an automatic DNA sequencers. There was no difference between gene frequencies of patients and the control group. The results no support the hypothesis of migraine as a channelopathy analyzed gene. (author) [es

  2. A Functional Variant at the miR-214 Binding Site in the Methylenetetrahydrofolatereductase Gene Alters Susceptibility to Gastric Cancer in a Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Qiaoyun Chen

    2015-05-01

    Full Text Available Background and Aims: Single nucleotide polymorphisms in miRNA binding sites, which are located in mRNA 3' untranslated regions (3'-UTRs, were recently found to influence microRNA-target interactions. Specifically, such polymorphisms can modulatebinding affinity or create or destroy miRNA-binding sites; such variants have also been found to be associated with cancer risk. In this study, we explored the effect of a functional variant at the miR-214 binding site in the methylenetetrahydrofolate reductase gene (rs114673809 on gastric cancer (GC risk in a hospital-based case-control study in a Chinese Han population. Methods and Results: We genotyped the rs114673809 polymorphism in 345 gastric cancer patients and 376 cancer-free controls using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP technique. The functions of rs114673809 were investigated using a luciferase activity assay and validated by immunoblotting. We found that participants carrying the rs114673809 AA genotype or A allele had a significantly increased risk of gastric cancer (OR = 1.667, 95% CI = 1.044-2.660, P = 0.034; OR = 1.261, 95% CI = 1.017-1.563, P = 0.037, respectively compared to those carrying the GG genotype and G allele. In addition, rs114673809 modified the binding of hsa-miR-214 to MTHFR as well as MTHFR protein levels in gastric cancer patients. Conclusion: Our data suggested that rs114673809, which is located at the miR-214 binding site in the 3'-UTR of MTHFR, may play an important role in the development of gastric cancer in a Chinese Han population.

  3. The Delimitation of Urban Growth Boundaries Using the CLUE-S Land-Use Change Model: Study on Xinzhuang Town, Changshu City, China

    Directory of Open Access Journals (Sweden)

    Rui Zhou

    2016-11-01

    Full Text Available Over the past decades, urban growth boundaries (UGBs have been regarded as effective tools applied by planners and local governments to curb urban sprawl and guide urban smart growth. The UGBs help limit urban development to suitable areas and protect surrounding agricultural and ecological landscapes. At present, China’s Town and Country Planning Act officially requires the delimitation of UGBs in a city master planning outline and in central urban area planning. However, China’s practices in UGBs are usually determined by urban planners and local authorities, and lack a sound analytical basis. Consequently, Chinese UGBs are often proven to be inefficient for controlling urban expansion. In this paper, take the fast-growing Xinzhuang town of Changshu city, eastern China as an example, a new method towards establishing UGBs is proposed based on land-use change model (the Conversion of Land Use and its Effects at Small regional extent, CLUE-S. The results of our study show that the land-use change and urban growth simulation accuracy of CLUE-S model is high. The expansion of construction land and the decrease of paddy field would be the main changing trends of local land use, and a good deal of cultivated land and ecological land would be transformed into construction land in 2009–2027. There is remarkable discordance in the spatial distribution between the simulated UGBs based on the CLUE-S model and the planned UGBs based on the conventional method, where the simulated results may more closely reflect the reality of urban growth laws. Therefore, we believe that our method could be a useful planning tool for the delimitation of UGBs in Chinese cities.

  4. Genetic susceptibility to lead poisoning.

    OpenAIRE

    Onalaja, A O; Claudio, L

    2000-01-01

    Major strides have been taken in the regulation of lead intoxication in the general population, but studies using genetic markers of susceptibility to environmental toxicants raise the question of whether genes can make certain individuals more vulnerable to environmental toxins such as lead. At least three polymorphic genes have been identified that potentially can influence the bioaccumulation and toxicokinetics of lead in humans. The first gene to be discussed in this review is the gene co...

  5. The rs4846049 polymorphism in the 3’UTR region of the MTHFR gene increases the migraine susceptibility in an Iranian population

    Directory of Open Access Journals (Sweden)

    Salehi M

    2018-01-01

    Full Text Available Mohaddeseh Salehi,1,* Mona Amin-Beidokhti,2,* Behnam Safarpour Lima,3 Milad Gholami,2 Gholam-Reza Javadi,1 Reza Mirfakhraie2,4 1Department of Biology, Islamic Azad University, Science and Research Branch, 2Department of Medical Genetics, 3Department of Neurology, School of Medicine, 4Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran *These authors contributed equally to this work Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population. Methods: In this genetic association study, 498 individuals were enrolled, including 223 migraine patients and 275 healthy controls. Genotyping was performed using tetra-primer ARMS-PCR for rs4846049 and PCR-restriction fragment length polymorphism for C677T and A1298C polymorphisms. Results: The association between rs4846049 and C677T polymorphisms and migraine was observed. For the rs4846049 polymorphism, the association was detected under a dominant model (P=0.007; odds ratio [OR] =0.60; 95% confidence interval [CI], 0.41–0.87, and for the C677T polymorphism, the TT genotype frequency was significantly different in the studied groups (P=0.009; OR =2.48; 95% CI, 1.25–4.92. No significant differences in the genotype or allele frequencies were found for the A1298C polymorphism between the migraineurs and controls. Conclusion: Present data provide evidence for the association of rs4846049 and C677T polymorphisms in the MTHFR gene and migraine. Further studies are

  6. ESR1 single nucleotide polymorphism rs1062577 (c.*3804T>A) alters the susceptibility of breast cancer risk in Iranian population.

    Science.gov (United States)

    Dehghan, Zahra; Sadeghi, Samira; Tabatabaeian, Hossein; Ghaedi, Kamran; Azadeh, Mansoureh; Fazilati, Mohammad; Bagheri, Fatemeh

    2017-05-05

    Albeit single nucleotide polymorphisms related to ESR1 gene have been studied, only a number of them have been reported to be associated with breast cancer risk. rs1062577 is one of the most recent microRNA-related ESR1 SNPs; however, no study has been conducted to investigate the significance this polymorphism in Iranian population. In this study, we aimed to investigate the frequency and also the association between rs1062577 and breast cancer. rs1062577 position was genotyped by Tetra-primer ARMS-PCR in totally 182 blood specimens obtained from breast cancer patients (n=86), and healthy blood donors (n=96). The distribution of different genotypes was statistically analyzed in terms of the potential association between rs1062577 different alleles, breast cancer risk and clinicopathological criteria of breast cancer patients. The statistical analyses confidently indicated that rs1062577 A allele is associated with the increased breast cancer risk in both univariate and multivariate regression models (Odds Ratio=8.403 and 32.602 respectively). rs1062577 T allele was statistically associated with stage I of breast cancer patients (p-value=0.025). In silico studies implied that rs1062577 A allele can alter the binding capacity of ESR1 mRNA and miRNAs via either breakage or formation of hydrogen bonds. rs1062577 A allele is significantly and dramatically associated with the elevated risk and greater stages of breast cancer. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Observation of {gamma}-sources using a new reconstruction technique in the CLUE experiment

    Energy Technology Data Exchange (ETDEWEB)

    Bartoli, B.; Bastieri, D.; Bigongiari, C.; Biral, R.; Ciocci, M.A.; Cresti, M.; Dokoutchaeva, V.; Kartashov, D.; Liello, F.; Malakhov, N.; Mariotti, M.; Marsella, G.; Menzione, A.; Paoletti, R.; Peruzzo, L.; Piccioli, A.; Pegna, R.; Rosso, F.; Saggion, A.; Sartori, G.; Sbarra, C.; Scribano, A.; Smogailov, E.; Stamerra, A.; Turini, N

    2001-04-01

    The CLUE experiment, located in La Palma island at 2200 m a.s.l., is an array of 3x3 telescope, detecting the UV (190 - 230 nm) Cherenkov light produced by atmospheric showers. Since atmospheric absorption in the UV range is higher than in the visible range, CLUE cannot apply existing algorithms normally used in IACT experiments to determine primary cosmic ray direction. In this paper we present a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. Using the new technique, preliminary results of last two years observational campaigns on the Crab Nebula and on Markarian 421 are presented, showing a clear signal on both sources. The CLUE experiment collected also data with the telescopes aiming directly at the Moon: we expect improvements also on the Moon Shadow measurement adopting the new method.

  8. Observation of the Moon shadow using a new reconstruction technique in the CLUE experiment

    International Nuclear Information System (INIS)

    Dokoutchaeva, V.; Kartashov, D.; Malakhov, N.; Menzione, A.; Smogailov, E.; Marsella, G.; Bartoli, B.; Bastieri, D.; Cresti, M.; Sartori, G.; Sbarra, C.; Saggion, A.; Mariotti, M.; Biral, R.; Pegna, R.; Rosso, F.; Ciocci, M. A.; Scribano, A.; Paoletti, R.; Turini, N.; Stammerra, A.; Liello, F.

    2001-01-01

    The CLUE experiment, located in La Palma island at 2200 m a.s.l., is an array of 3 x 3 telescope, detecting the UV (190-230 nm) Cerenkov light produced by atmospheric showers. Due to the higher atmospheric absorption in the UV range than in the visible one, CLUE cannot apply existing algorithms normally used in IACT experiments to determine primary cosmic ray direction. In this paper it is presented a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. CLUE experiment collected data in the last two years pointing to AGN sources and to Moon. The preliminary results obtained using the new technique on Crab Nebula and on Markarian 421 were presented in a previous paper. Here, it is presented the preliminary observation of Moon Shadow employing the new method. As described in the paper, it is expected in a near future improvements on AGN sources and on Moon Shadow measurement

  9. Observation of γ-sources using a new reconstruction technique in the CLUE experiment

    International Nuclear Information System (INIS)

    Bartoli, B.; Bastieri, D.; Bigongiari, C.; Biral, R.; Ciocci, M.A.; Cresti, M.; Dokoutchaeva, V.; Kartashov, D.; Liello, F.; Malakhov, N.; Mariotti, M.; Marsella, G.; Menzione, A.; Paoletti, R.; Peruzzo, L.; Piccioli, A.; Pegna, R.; Rosso, F.; Saggion, A.; Sartori, G.; Sbarra, C.; Scribano, A.; Smogailov, E.; Stamerra, A.; Turini, N.

    2001-01-01

    The CLUE experiment, located in La Palma island at 2200 m a.s.l., is an array of 3x3 telescope, detecting the UV (190 - 230 nm) Cherenkov light produced by atmospheric showers. Since atmospheric absorption in the UV range is higher than in the visible range, CLUE cannot apply existing algorithms normally used in IACT experiments to determine primary cosmic ray direction. In this paper we present a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. Using the new technique, preliminary results of last two years observational campaigns on the Crab Nebula and on Markarian 421 are presented, showing a clear signal on both sources. The CLUE experiment collected also data with the telescopes aiming directly at the Moon: we expect improvements also on the Moon Shadow measurement adopting the new method

  10. Observation of the Moon shadow using a new reconstruction technique in the CLUE experiment

    Energy Technology Data Exchange (ETDEWEB)

    Dokoutchaeva, V.; Kartashov, D.; Malakhov, N.; Menzione, A.; Smogailov, E. [Istituto Nazionale di Fisica Nucleare, Pisa (Italy); Marsella, G. [Lecce Univ., Lecce (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Lecce (Italy); Bartoli, B. [Naples Univ., Naples (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Naples (Italy); Bastieri, D.; Cresti, M.; Sartori, G.; Sbarra, C.; Saggion, A.; Mariotti, M. [Padua Univ., Padua (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Padua (Italy); Biral, R.; Pegna, R.; Rosso, F. [Pisa Univ., Pisa (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Pisa (Italy); Ciocci, M. A.; Scribano, A.; Paoletti, R.; Turini, N. [Siena Univ., Siena (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Siena (Italy); Stammerra, A. [Turin Univ., Turin (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Turin (Italy); Liello, F. [Trieste Univ., Trieste (Italy). Dipt. di Fisica; Istituto Nazionale di Fisica Nucleare, Trieste (Italy)

    2001-10-01

    The CLUE experiment, located in La Palma island at 2200 m a.s.l., is an array of 3 x 3 telescope, detecting the UV (190-230 nm) Cerenkov light produced by atmospheric showers. Due to the higher atmospheric absorption in the UV range than in the visible one, CLUE cannot apply existing algorithms normally used in IACT experiments to determine primary cosmic ray direction. In this paper it is presented a new method developed by CLUE. The algorithm performances were evaluated using simulated showers. CLUE experiment collected data in the last two years pointing to AGN sources and to Moon. The preliminary results obtained using the new technique on Crab Nebula and on Markarian 421 were presented in a previous paper. Here, it is presented the preliminary observation of Moon Shadow employing the new method. As described in the paper, it is expected in a near future improvements on AGN sources and on Moon Shadow measurement.

  11. TV Crime Reporter Missed Clues | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... turn JavaScript on. Feature: Women and Heart Disease TV Crime Reporter Missed Clues Past Issues / Spring 2016 ... age of 36. A crime reporter for WJLA-TV in Washington, D.C., her life revolved around ...

  12. Neutrino oscillation provides clues to dark matter and signals from the chilled universe

    CERN Multimedia

    2006-01-01

    The new verification that oscillations exists and neutrinos have mass though not detectible easy provides the first clue to extra dimensions, dark matter, hyperspace and chilled universe acting as a platform below it. (1/2 page)

  13. Bacterial vaginosis (clue cell-positive discharge) : diagnostic, ultra-structural and therapeutic aspects

    NARCIS (Netherlands)

    W.I. van der Meijden (Willem)

    1987-01-01

    textabstractThis thesis deals with several aspects of (abnormal) vaginal discharge, focusing especially on clue cell-positive discharge (bacterial vaginosis, nonspecific vaginitis). It reports data on epidemiology and clinical features, pathogenesis, and treatment of this vaginal disease entity,

  14. The Family Constellation: A Clue to the Behavior of Elementary School Children

    Science.gov (United States)

    Hillman, Bill W.

    1972-01-01

    This article presents information about the family constellation concept which can provide clues to understanding the sometimes perplexing behavior of children. It has also been suggested how this information can be used by the elementary school counselors. (Author)

  15. Clues to occult cancer in patients with ischemic stroke.

    Directory of Open Access Journals (Sweden)

    Suk Jae Kim

    Full Text Available BACKGROUND: We hypothesized that hidden malignancy could be detected in patients with cryptogenic stroke without active cancer when they showed the distinctive characteristics of cancer-related stroke. METHODS AND FINDINGS: Among 2,562 consecutive patients with acute ischemic stroke, patients with cryptogenic stroke were analyzed and categorized into two groups according to the presence of active cancer: cryptogenic stroke with active cancer (cancer-related stroke, CA-stroke group and without active cancer (CR-stroke group. Patients with active lung cancer without stroke were also recruited for comparison purposes (CA-control. Clinical factors, lesion patterns on diffusion-weighted MRI (DWI, and laboratory findings were analyzed among groups. A total of 348 patients with cryptogenic stroke were enrolled in this study. Among them, 71 (20.4% patients had active cancer at the time of stroke. The D-dimer levels were significantly higher in patients with CA-stroke than those with CR-stroke or CA-control (both p<0.001. Regarding lesion patterns, patients with CA-stroke mostly had multiple lesions in multiple vascular territories, while more than 80% of patients with CR-stroke had single/multiple lesions in a single vascular territory (P<0.001. D-dimer levels (OR 1.11 per 1 µg/mL increase; 95% CI 1.06-1.15; P<0.001 and DWI lesion patterns (OR 7.13; 95% CI 3.42-14.87; P<0.001 were independently associated with CA-stroke. Workup for hidden malignancy was performed during hospitalization in 10 patients who showed elevated D-dimer levels and multiple infarcts involving multiple vascular territories but had no known cancer, and it revealed hidden malignancies in all the patients. CONCLUSION: Patients with CA-stroke have distinctive D-dimer levels and lesion patterns. These characteristics can serve as clues to occult cancer in patients with cryptogenic stroke.

  16. Prevalence of Taura syndrome virus (TSV and Infectious hypodermal and haematopoietic necrosis virus (IHHNV in white shrimp (Penaeus vannamei populations and susceptibility to infection of some aquatic species native to Thailand

    Directory of Open Access Journals (Sweden)

    Supamattaya, K.

    2005-02-01

    Full Text Available This study aimed to survey the prevalence of some infectious diseases e.g. Taura syndrome virus (TSV and Infectious hypodermal and haematopoietic necrosis virus (IHHNV in white shrimp (Penaeus vannamei populations and to assess the impact of such infectious agents to indigenous aquatic animals in Thailand. Samples of both larval and juvenile or adult shrimp from each region of the country were collected and screened for TSV and IHHNV using the polymerase chain reaction (PCR technique. Viruses isolated from affected shrimp were used for determine the susceptibility to infection of some aquatic species native to Thailand.A total of 163 samples of larval shrimp from hatcheries were screened. The results showed infection with TSV and IHHNV in 3.68 and 44.17%, respectively. As high as 7.32% TSV infection was detected in shrimp samples collected from the South Eastern coast, followed by the Eastern and Central regions with percentages of 5.56 and 4.53, respectively. Shrimp with the highest rate of IHHNV infection, 55.56% were collected from the Eastern region. A total of 192 samples of shrimp reared in grow-out ponds were also collected. The results showed shrimp were infected with TSV and IHHNV with percentages of 6.67 and 67.19, respectively. The highest prevalence of IHHNV (up to 90% was found in samples collected from the lower Southern region. The highest prevalence of TSV infection (11.29% was reported in shrimp from the Central region. A study of the susceptibility to TSV and IHHNV infection of some indigenous aquatic species of Thailand was also carried out. The results showed many aquatic species native to Thailand e.g. black tiger shrimp (Penaeus monodon, speckled shrimp (Metapenaeus monoceros, dwarf prawn (Macrobrachium equideus, krill (Acetes sp., mantis lobster (Chloridopsis immaculatus, freshwater prawn (Macrobrachium lanchesteri and M. rosenbergii, mangrove crab (Sesarma sp. and mud crab (Scylla serrata were susceptible to viruses and

  17. Bacterial fitness shapes the population dynamics of antibiotic-resistant and -susceptible bacteria in a model of combined antibiotic and anti-virulence treatment

    Science.gov (United States)

    Ternent, Lucy; Dyson, Rosemary J.; Krachler, Anne-Marie; Jabbari, Sara

    2015-01-01

    Bacterial resistance to antibiotic treatment is a huge concern: introduction of any new antibiotic is shortly followed by the emergence of resistant bacterial isolates in the clinic. This issue is compounded by a severe lack of new antibiotics reaching the market. The significant rise in clinical resistance to antibiotics is especially problematic in nosocomial infections, where already vulnerable patients may fail to respond to treatment, causing even greater health concern. A recent focus has been on the development of anti-virulence drugs as a second line of defence in the treatment of antibiotic-resistant infections. This treatment, which weakens bacteria by reducing their virulence rather than killing them, should allow infections to be cleared through the body׳s natural defence mechanisms. In this way there should be little to no selective pressure exerted on the organism and, as such, a predominantly resistant population should be less likely to emerge. However, before the likelihood of resistance to these novel drugs emerging can be predicted, we must first establish whether such drugs can actually be effective. Many believe that anti-virulence drugs would not be powerful enough to clear existing infections, restricting their potential application to prophylaxis. We have developed a mathematical model that provides a theoretical framework to reveal the circumstances under which anti-virulence drugs may or may not be successful. We demonstrate that by harnessing and combining the advantages of antibiotics with those provided by anti-virulence drugs, given infection-specific parameters, it is possible to identify treatment strategies that would efficiently clear bacterial infections, while preventing the emergence of antibiotic-resistant subpopulations. Our findings strongly support the continuation of research into anti-virulence drugs and demonstrate that their applicability may reach beyond infection prevention. PMID:25701634

  18. Incidence of Brain Infarcts, Cognitive Change, and Risk of Dementia in the General Population: The AGES-Reykjavik Study (Age Gene/Environment Susceptibility-Reykjavik Study).

    Science.gov (United States)

    Sigurdsson, Sigurdur; Aspelund, Thor; Kjartansson, Olafur; Gudmundsson, Elias F; Jonsdottir, Maria K; Eiriksdottir, Gudny; Jonsson, Palmi V; van Buchem, Mark A; Gudnason, Vilmundur; Launer, Lenore J

    2017-09-01

    The differentiation of brain infarcts by region is important because their cause and clinical implications may differ. Information on the incidence of these lesions and association with cognition and dementia from longitudinal population studies is scarce. We investigated the incidence of infarcts in cortical, subcortical, cerebellar, and overall brain regions and how prevalent and incident infarcts associate with cognitive change and incident dementia. Participants (n=2612, 41% men, mean age 74.6±4.8) underwent brain magnetic resonance imaging for the assessment of infarcts and cognitive testing at baseline and on average 5.2 years later. Incident dementia was assessed according to the international guidelines. Twenty-one percent of the study participants developed new infarcts. The risk of incident infarcts in men was higher than the risk in women (1.8; 95% confidence interval, 1.5-2.3). Persons with both incident and prevalent infarcts showed steeper cognitive decline and had almost double relative risk of incident dementia (1.7; 95% confidence interval, 1.3-2.2) compared with those without infarcts. Persons with new subcortical infarcts had the highest risk of incident dementia compared with those without infarcts (2.6; 95% confidence interval, 1.9-3.4). Men are at greater risk of developing incident brain infarcts than women. Persons with incident brain infarcts decline faster in cognition and have an increased risk of dementia compared with those free of infarcts. Incident subcortical infarcts contribute more than cortical and cerebellar infarcts to incident dementia which may indicate that infarcts of small vessel disease origin contribute more to the development of dementia than infarcts of embolic origin in larger vessels. © 2017 American Heart Association, Inc.

  19. Bacterial fitness shapes the population dynamics of antibiotic-resistant and -susceptible bacteria in a model of combined antibiotic and anti-virulence treatment.

    Science.gov (United States)

    Ternent, Lucy; Dyson, Rosemary J; Krachler, Anne-Marie; Jabbari, Sara

    2015-05-07

    Bacterial resistance to antibiotic treatment is a huge concern: introduction of any new antibiotic is shortly followed by the emergence of resistant bacterial isolates in the clinic. This issue is compounded by a severe lack of new antibiotics reaching the market. The significant rise in clinical resistance to antibiotics is especially problematic in nosocomial infections, where already vulnerable patients may fail to respond to treatment, causing even greater health concern. A recent focus has been on the development of anti-virulence drugs as a second line of defence in the treatment of antibiotic-resistant infections. This treatment, which weakens bacteria by reducing their virulence rather than killing them, should allow infections to be cleared through the body׳s natural defence mechanisms. In this way there should be little to no selective pressure exerted on the organism and, as such, a predominantly resistant population should be less likely to emerge. However, before the likelihood of resistance to these novel drugs emerging can be predicted, we must first establish whether such drugs can actually be effective. Many believe that anti-virulence drugs would not be powerful enough to clear existing infections, restricting their potential application to prophylaxis. We have developed a mathematical model that provides a theoretical framework to reveal the circumstances under which anti-virulence drugs may or may not be successful. We demonstrate that by harnessing and combining the advantages of antibiotics with those provided by anti-virulence drugs, given infection-specific parameters, it is possible to identify treatment strategies that would efficiently clear bacterial infections, while preventing the emergence of antibiotic-resistant subpopulations. Our findings strongly support the continuation of research into anti-virulence drugs and demonstrate that their applicability may reach beyond infection prevention. Copyright © 2015 The Authors. Published by

  20. Impact of MTHFR rs1801133, MTHFR rs1801131 and ABCB1 rs1045642 polymorphisms with increased susceptibility of rheumatoid arthritis in the West Algerian population: A case-control study.

    Directory of Open Access Journals (Sweden)

    Wefa BOUGHRARA

    2015-10-01

    Full Text Available Rheumatoid arthritis (RA is an autoimmune disease that results in a chronic systemic inflammation. A few genetic epidemiologic studies found a potential association between genetic polymorphisms C677T (rs1801133 and A1298C (rs1801131 of methylenetatrahydrofolate reductase (MTHFR gene and C3435T (rs1045642 of ATP-Binding cassette (ABCB1 gene and the increased risk for RA. The aim of this case-control study was to determine the relationship between these polymorphisms and RA susceptibility in West Algerian population. The dataset of the current study is composed of 110 RA patients and 101 healthy controls. All samples were genotyped for theses polymorphisms by TaqMan® allelic discrimination assay. Data were compared between cases and controls by the calculation of the odds ratio (OR with a confidence interval at 95%. After age and RA erosion-stratified analyzes, no differences in genotypes or alleles frequencies distribution were found for MTHFR C677T (rs1801133 and ABCB1 C3435T (rs1045642 polymorphisms between RA cases and controls. However, the MTHFR A1298C (rs1801131 polymorphism presented a significant distribution in RA with age ≥ 40 (Genotypic data: p=0.007, OR=13.53[1.44-63.31], Allelic data: p=0.001, OR=2.39[1.39-4.1], and in RA erosive form (Genotypic data: p=0.002, OR=6.92[1.68-30.23], Allelic data: p=0.0001, OR=2.43[1.54-3.85].These results were confirmed after the Bonferroni correction. In this study we have showed, for the first time in the West Algerian population, that the MTHFR A1298C (rs1801131 polymorphism can be associated with rheumatoid arthritis.

  1. Predictive performance of a genetic risk score using 11 susceptibility alleles for the incidence of Type 2 diabetes in a general Japanese population: a nested case-control study.

    Science.gov (United States)

    Goto, A; Noda, M; Goto, M; Yasuda, K; Mizoue, T; Yamaji, T; Sawada, N; Iwasaki, M; Inoue, M; Tsugane, S

    2018-02-14

    To assess the predictive ability of a genetic risk score for the incidence of Type 2 diabetes in a general Japanese population. This prospective case-control study, nested within a Japan Public Health Centre-based prospective study, included 466 participants with incident Type 2 diabetes over a 5-year period (cases) and 1361 control participants, as well as 1463 participants with existing diabetes and 1463 control participants. Eleven susceptibility single nucleotide polymorphisms, identified through genome-wide association studies and replicated in Japanese populations, were analysed. Most single nucleotide polymorphism loci showed directionally consistent associations with diabetes. From the combined samples, one single nucleotide polymorphism (rs2206734 at CDKAL1) reached a genome-wide significance level (odds ratio 1.28, 95% CI 1.18-1.40; P = 1.8 × 10 -8 ). Three single nucleotide polymorphisms (rs2206734 in CDKAL1, rs2383208 in CDKN2A/B, and rs2237892 in KCNQ1) were nominally associated with incident diabetes. Compared with the lowest quintile of the total number of risk alleles, the highest quintile had a higher odds of incident diabetes (odds ratio 2.34, 95% CI 1.59-3.46) after adjusting for conventional risk factors such as age, sex and BMI. The addition to the conventional risk factor-based model of a genetic risk score using the 11 single nucleotide polymorphisms significantly improved predictive performance; the c-statistic increased by 0.021, net reclassification improved by 6.2%, and integrated discrimination improved by 0.003. Our prospective findings suggest that the addition of a genetic risk score may provide modest but significant incremental predictive performance beyond that of the conventional risk factor-based model without biochemical markers. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  2. [Clues in pedestrian-vehicle collisions and their significance for reconstruction of accidents].

    Science.gov (United States)

    Metter, D

    1983-01-01

    Investigations of clues in 87 fatal pedestrian-car accidents which took place with erect posture of the body are reported. Traces of paint proved to be most important clues transferred from the vehicle to the pedestrian's clothing. They derived from the outer paint layer of the collision sites at the front of the vehicle and occurred in 49% of the cases investigated. As has been shown by light and scanning electron microscopic investigations, there is intensive contact between the textile fibers and the paint traces which can be explained by action of heat in the collision. The higher the collision speed, the more readily paint is rubbed off. Because traces of rubbed off paint mark the site of the vehicle impact and indicate the color of the vehicle, they have a high evidence value for reconstruction of the accident. This also applies to traces of molten plastic material as well as to rubbed off chrome and rubber. In contrast to the prevalent view, paint splitters are unsuitable for determining the impact direction. Textile microtraces, traces of blood, hair and tissue occur as transferred clues from the pedestrian to the vehicle. These clues do not permit any statements with regard to the impact direction. They must be evaluated in connection with the remaining clues and the injuries.

  3. Trichoscopic clues for diagnosis of alopecia areata and trichotillomania in Asians.

    Science.gov (United States)

    Khunkhet, Saranya; Vachiramon, Vasanop; Suchonwanit, Poonkiat

    2017-02-01

    Trichoscopy has become a useful diagnostic tool for various hair and scalp diseases, including alopecia areata (AA) and trichotillomania (TTM), which are sometimes difficult to distinguish clinically. To describe trichoscopic findings of AA and TTM in an Asian population and to establish diagnostic clues for these conditions. Trichoscopy was performed with a handheld dermoscope in 52 patients diagnosed with AA and 23 patients diagnosed with TTM. Trichoscopic images were then blindly evaluated. The trichoscopic features more frequently observed in AA than in TTM included exclamation mark hairs (AA 59.6%, TTM 26.1%), tapered hairs (AA 59.6%, TTM 4.3%), yellow dots (AA 46.2%, TTM 21.7%), and angulated hairs (AA 26.9%, TTM 0%) (P < 0.05). On the other hand, broken hairs of different lengths (TTM 100%, AA 3.8%), trichoptilosis (TTM 78.3%, AA 5.8%), V-sign (TTM 43.5%, AA 3.8%), flame hairs (TTM 43.5%, AA 0%), and hair powder (TTM 13%, AA 1.9%) were more commonly demonstrated in TTM than in AA (P < 0.05). Exclamation mark hairs indicate a diagnosis of AA but not pathognomonic. In addition, angulated hairs, fractured hairs forming a sharp angle along the hair shaft, appear to be typical for AA in Asians when differentiating from TTM. It is important to consider various trichoscopic findings together to establish the diagnosis of AA or TTM. © 2017 The International Society of Dermatology.

  4. Non-specific symptoms as clues to changes in emotional well-being

    Directory of Open Access Journals (Sweden)

    Blumberg Gari

    2011-07-01

    Full Text Available Abstract Background - Somatic symptoms are a common reason for visits to the family physician. The aim of this study was to examine the relation between non-specific symptoms and changes in emotional well-being and the degree to which the physician considers the possibility of mental distress when faced with such patients. Methods - Patients who complained of two or more symptoms including headache, dizziness, fatigue or weakness, palpitations and sleep disorders over one year were identified from the medical records of a random sample of 45 primary care physicians. A control group matched for gender and age was selected from the same population. Emotional well-being was assessed using the MOS-SF 36 in both groups. Results - The study group and the control group each contained 110 patients. Completed MOS questionnaires were obtained from 92 patients, 48 patients with somatic symptoms and 44 controls. Sixty percent of the patients with somatic symptoms experienced decreased emotional well being compared to 25% in the control group (p = 0.00005. Symptoms of dizziness, fatigue and sleep disturbances were significantly linked with mental health impairments. Primary care physicians identified only 6 of 29 patients (21% whose responses revealed functional limitations due to emotional problems as suffering from an emotional disorder and only 6 of 23 patients (26% with a lack of emotional well being were diagnosed with an emotional disorder. Conclusions - Non-specific somatic symptoms may be clues to changes in emotional well-being. Improved recognition and recording of mental distress among patients who complain of these symptoms may enable better follow up and treatment.

  5. Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes

    Science.gov (United States)

    de Saint Pierre, Michelle; Gandini, Francesca; Perego, Ugo A.; Bodner, Martin; Gómez-Carballa, Alberto; Corach, Daniel; Angerhofer, Norman; Woodward, Scott R.; Semino, Ornella; Salas, Antonio; Parson, Walther; Moraga, Mauricio; Achilli, Alessandro; Torroni, Antonio; Olivieri, Anna

    2012-01-01

    With analyses of entire mitogenomes, studies of Native American mitochondrial DNA (mtDNA) variation have entered the final phase of phylogenetic refinement: the dissection of the founding haplogroups into clades that arose in America during and after human arrival and spread. Ages and geographic distributions of these clades could provide novel clues on the colonization processes of the different regions of the double continent. As for the Southern Cone of South America, this approach has recently allowed the identification of two local clades (D1g and D1j) whose age estimates agree with the dating of the earliest archaeological sites in South America, indicating that Paleo-Indians might have reached that region from Beringia in less than 2000 years. In this study, we sequenced 46 mitogenomes belonging to two additional clades, termed B2i2 (former B2l) and C1b13, which were recently identified on the basis of mtDNA control-region data and whose geographical distributions appear to be restricted to Chile and Argentina. We confirm that their mutational motifs most likely arose in the Southern Cone region. However, the age estimate for B2i2 and C1b13 (11–13,000 years) appears to be younger than those of other local clades. The difference could reflect the different evolutionary origins of the distinct South American-specific sub-haplogroups, with some being already present, at different times and locations, at the very front of the expansion wave in South America, and others originating later in situ, when the tribalization process had already begun. A delayed origin of a few thousand years in one of the locally derived populations, possibly in the central part of Chile, would have limited the geographical and ethnic diffusion of B2i2 and explain the present-day occurrence that appears to be mainly confined to the Tehuelche and Araucanian-speaking groups. PMID:23240014

  6. Application of genetic algorithm to land use optimization for non-point source pollution control based on CLUE-S and SWAT

    Science.gov (United States)

    Wang, Qingrui; Liu, Ruimin; Men, Cong; Guo, Lijia

    2018-05-01

    The genetic algorithm (GA) was combined with the Conversion of Land Use and its Effect at Small regional extent (CLUE-S) model to obtain an optimized land use pattern for controlling non-point source (NPS) pollution. The performance of the combination was evaluated. The effect of the optimized land use pattern on the NPS pollution control was estimated by the Soil and Water Assessment Tool (SWAT) model and an assistant map was drawn to support the land use plan for the future. The Xiangxi River watershed was selected as the study area. Two scenarios were used to simulate the land use change. Under the historical trend scenario (Markov chain prediction), the forest area decreased by 2035.06 ha, and was mainly converted into paddy and dryland area. In contrast, under the optimized scenario (genetic algorithm (GA) prediction), up to 3370 ha of dryland area was converted into forest area. Spatially, the conversion of paddy and dryland into forest occurred mainly in the northwest and southeast of the watershed, where the slope land occupied a large proportion. The organic and inorganic phosphorus loads decreased by 3.6% and 3.7%, respectively, in the optimized scenario compared to those in the historical trend scenario. GA showed a better performance in optimized land use prediction. A comparison of the land use patterns in 2010 under the real situation and in 2020 under the optimized situation showed that Shennongjia and Shuiyuesi should convert 1201.76 ha and 1115.33 ha of dryland into forest areas, respectively, which represented the greatest changes in all regions in the watershed. The results of this study indicated that GA and the CLUE-S model can be used to optimize the land use patterns in the future and that SWAT can be used to evaluate the effect of land use optimization on non-point source pollution control. These methods may provide support for land use plan of an area.

  7. A New Clue in the Mystery of Fast Radio Bursts

    Science.gov (United States)

    Kohler, Susanna

    2017-06-01

    .Bassa and collaborators also found that the properties of the host galaxy are consistent with those of a type of galaxy known as extreme emission line galaxies. This provides a tantalizing clue, as these galaxies are known to host both hydrogen-poor superluminous supernovae and long-duration gamma-ray bursts.Linking to the CauseWhat can this tell us about the cause of FRB 121102? The fact that this burst repeats already eliminates cataclysmic events as the origin. But the projected location of FRB 121102 within a star-forming region especially in a host galaxy thats similar to those typically hosting superluminous supernovae and long gamma-ray bursts strongly suggests theres a relation between these events.Artists impression of a gamma-ray burst in a star-forming region. [NASA/Swift/Mary Pat Hrybyk-Keith and John Jones]The authors propose that this observed coincidence, supported by models of magnetized neutron star birth, indicate an evolutionary link between fast radio bursts and neutron stars. In this picture, neutron stars or magnetars are born as long gamma-ray bursts or hydrogen-poor supernovae, and then evolve into fast-radio-burst-emitting sources.This picture may finally explain the cause of fast radio bursts but Bassa and collaborators caution that its also possible that this model applies only to FRB 121102. Since FRB 121102 is unique in being the only burst discovered to repeat, its cause may also be unique. The authors suggest that targeted searches of star-forming regions in galaxies similar to FRB 121102s host may reveal other repeating burst candidates, helping us to unravel the ongoing mystery of fast radio bursts.CitationC. G. Bassa et al 2017 ApJL 843 L8. doi:10.3847/2041-8213/aa7a0c

  8. Agar dilution method for susceptibility testing of Neisseria gonorrhoeae

    Directory of Open Access Journals (Sweden)

    Marta C de Castillo

    1996-12-01

    Full Text Available The antibiotic susceptibilities of Neisseria gonorrhoeae isolates obtained from patients attending a clinic for sexually transmitted diseases in Tucumán, Argentina, were determined by the agar dilution method (MIC. 3.5% of the isolates produced ²-lactamase. A total of 96.5% of ²-lactamase negative isolates tested were susceptible to penicillin (MIC < 2 µgml-1; 14.03% of the tested isolates were resistant to tetracycline (MIC < 2 µgml-1, and 98% of the tested isolates were susceptible to spectinomycin (MIC < 64 µgml-1. The MICs for 95% of the isolates, tested for other drugs were: < 2 µgml-1 for cefoxitin, < 0.06 µgml-1 for cefotaxime, < 0.25 µgml-1 for norfloxacin, < 10 µgml-1 for cephaloridine, < 10 µgml-1 for cephalexin, and < 50 µgml-1 for kanamycin. Antibiotic resistance among N. gonorrhoeae isolates from Tucumán, Argentina, appeared to be primarily limited to penicillin and tetracycline, which has been a general use against gonorrhoeae in Tucumán since 1960. Periodic monitoring of the underlying susceptibility profiles of the N. gonorrhoeae strains prevalent in areas of frequent transmission may provide clues regarding treatment options and emerging of drug resistance.

  9. Antimycotics susceptibility testing of dermatophytes

    Directory of Open Access Journals (Sweden)

    Arsić-Arsenijević Valentina

    2010-01-01

    Full Text Available Dermatophytes are moulds that produce infections of the skin, hair and nails of humans and animals. The most common forms among these infections are onychomycosis and tinea pedis affecting 20% of world population. These infections are usually chronic. The treatment of dermatophytoses tends to be prolonged partly because available treatments are not very effective. Antifungal drug consumption and public health expenditure are high worldwide, as well as in Serbia. For adequate therapy, it is necessary to prove infection by isolation of dermatophytes and to test the antifungal susceptibility of isolates. Susceptibility testing is important for the resistance monitoring, epidemiological research and to compare in vitro activities of new antifungal agents. The diffusion and dilution methods of susceptibility tests are used, and technical issues of importance for the proper performance and interpretation of test results are published in the document E.DEF 9.1 (EUCAST and M38-A2 (CLSI. The aim of our paper is to promptly inform the public about technical achievements in this area, as well as the new organization of laboratory for medical mycology in our country. The formation of laboratory networks coordinated by the National Reference Laboratory for the cause of mycosis need to enable interlaboratory studies and further standardization of methods for antifungal susceptibility testing of dermatophytes, reproducibility of tests and clinical correlation monitoring (MIK values and clinical outcome of dermatophytosis. The importance of the new organization is expected efficient improvement in the dermatophytosis therapy at home, better quality of patient's life and the reduction of the cost of treatment.

  10. Reconstruction of showers at TeV energy by the CLUE Experiment and its application to recent data

    International Nuclear Information System (INIS)

    Bartoli, B.; Cresti, M.; Mariotti, M.; Peruzzo, L.; Sacco, R.; Saggion, A.; Sartori, G.; Sbarra, C.; Bigongiari, C.; Cocca, E.; Lucchesi, D.; Marsella, G.; Menzione, A.; Paoletti, R.; Parlavecchio, G.; Scribano, A.; Stamerra, A.; Turini, N.; Zetti, F.; Liello, F.

    1999-01-01

    The CLUE UV Cerenkov telescope array has started to take data with 8 telescopes in January 1998. The UV Cerenkov images obtained by the CLUE experiment are very different with respect to the visible case, and a new method for reconstructing the shower direction has been worked out. The shower reconstruction is shown and an application to recent data is given

  11. Reconstruction of showers at TeV energy by the CLUE Experiment and its application to recent data

    Energy Technology Data Exchange (ETDEWEB)

    Bartoli, B.; Cresti, M.; Mariotti, M.; Peruzzo, L.; Sacco, R.; Saggion, A.; Sartori, G.; Sbarra, C.; Bigongiari, C.; Cocca, E.; Lucchesi, D.; Marsella, G.; Menzione, A.; Paoletti, R.; Parlavecchio, G.; Scribano, A.; Stamerra, A.; Turini, N.; Zetti, F.; Liello, F

    1999-03-01

    The CLUE UV Cerenkov telescope array has started to take data with 8 telescopes in January 1998. The UV Cerenkov images obtained by the CLUE experiment are very different with respect to the visible case, and a new method for reconstructing the shower direction has been worked out. The shower reconstruction is shown and an application to recent data is given.

  12. Can net photosynthesis and water relations provide a clue on the ...

    African Journals Online (AJOL)

    user

    2011-02-28

    Feb 28, 2011 ... clue on the forest decline of Quercus suber in North. Tunisia? Lee, S. H.1, Woo, S.Y.1*, Nasr, Z.2, ... Quercus suber forest in north Tunisia in an attempt to explain the forest decline. In general, sap flow was positively .... The increased drought stress on the trees with high radiation on the soil was attributed to ...

  13. Joyful learning strategy using game method of treasure clue to improve reading comprehension skill

    Directory of Open Access Journals (Sweden)

    Vina Anggia Nastitie Ariawan

    2017-07-01

    Full Text Available The objectives of this research are (1 to describe steps in the implementation of joyful learning strategy using game method of treasure clue to improve reading comprehension skill for the fourth grade students of elementary school; (2 to improve reading comprehension skill for the fourth grade students of elementary school by implementing joyful learning strategy using game method of treasure clue. This research is collaborative Classroom Action Research (CAR and implemented within two cycles. Each cycle implemented within two meetings. This research impelemented at one of elementary school in Kuningan. Subjects of this research are 31 students of the fourth grade of elementary school. Techniques of collecting data were observation, interview, an document analysis. Data were analyzed using thematic analysis meanwhile data were validated using triangulation, member checking, and reflectivity. The results of this research show that joyful learning strategy using game method of treasure clue can increase students’ reading comprehension skill . The results proved by the increase of reading comprehension outcomes in each cycles. Passing grade percentage of students result in the first cycle is 73,86% and in the second cycle is 87,56%. Therefore, students’ learning outcomes has passed performance indicator research of 85%. The conclusion of this research is the implementation of joyful learning strategy using game method of treasure clue can improve reading comprehension skill for the fourth grade students of elementary school.

  14. Performance on Middle School Geometry Problems with Geometry Clues Matched to Three Different Cognitive Styles

    Science.gov (United States)

    Anderson, Karen L.; Casey, M. Beth; Thompson, William L.; Burrage, Marie S.; Pezaris, Elizabeth; Kosslyn, Stephen M.

    2008-01-01

    This study investigated the relationship between 3 ability-based cognitive styles (verbal deductive, spatial imagery, and object imagery) and performance on geometry problems that provided different types of clues. The purpose was to determine whether students with a specific cognitive style outperformed other students, when the geometry problems…

  15. 'How do you know what Aunt Martha looks like?' A video elicitation study exploring tacit clues in doctor-patient interactions.

    Science.gov (United States)

    Henry, Stephen G; Forman, Jane H; Fetters, Michael D

    2011-10-01

    Theory suggests that tacit clues inform clinical judgements, but the prevalence and role of tacit clues during clinical interactions is unknown. This study explored whether doctors and patients identify information likely to be tacit clues or judgements based on tacit clues during health maintenance examinations. Qualitative analysis of video elicitation interview transcripts involving 18 community-based primary care doctors and 36 patients. Outcomes were description and analysis of tacit clues and judgements based on tacit clues mentioned by participants. A total of 57 references to tacit clues and 53 references to judgements based on tacit clues were identified from patient and doctor transcripts. Non-verbal behaviours comprised the most common category of tacit clues (53% of doctor comments; 42% of patient comments). Patients mostly discussed judgements based on tacit clues that related to the doctor-patient relationship. Doctors discussed actively using non-verbal behaviours to provide patients with tacit clues about the doctor-patient relationship. They also mentioned tacit clues that informed medical judgements and decision making. Gestalt judgements based on tacit clues were common (33% of doctor comments). Several participants identified instances in which they had difficulty articulating their rationale for specific judgements. Doctors varied widely in how frequently they mentioned tacit clues. During video elicitation interviews, patients and doctors identified tacit clues and judgements based on these clues as playing a role during health maintenance examinations. Future research should further elucidate the role of tacit clues in medical judgements and doctor-patient relationships. Published 2011. This article is a US Government work and is in the public domain in the USA.

  16. Susceptibility of female Anopheles mosquito to pyrethroid ...

    African Journals Online (AJOL)

    The detection of insecticides resistance status in a natural population of Anopheles vectors is a vital tool for malaria control intervention strategy against Anopheles gambiae sensu lato, which is the main malaria vector in Nigeria. This study was conducted to determine the susceptibility status of the female Anopheles ...

  17. Germinação de sementes de populações de orelha-de-mula (Alisma Plantago-Aquatica resistentes e susceptíveis ao bensulfurão-metilo Seed germination of waterplantain (Alisma Plantago-Aquatica populations resistant and susceptible to bensulfuron-methyl

    Directory of Open Access Journals (Sweden)

    Isabel Calha

    2008-01-01

    Full Text Available Estudaram-se as condições mais adequadas à germinação de sementes de Alisma plantagoaquatica, susceptíveis (S e resistentes (R ao herbicida bensulfurão-metilo, de diferente origem. Analisou-se a taxa de germinação de 11 amostras de sementes provenientes de arrozais do Sado (2, do Sorraia (3 e do Baixo Mondego (6 em dois regimes de temperatura (15 ºC e 15/30 ºC; os estudos foram realizados com amostras de dois anos e incluíram uma amostra com três anos proveniente de arrozal do Sorraia. A regressão não linear pelo modelo log-logístico (SSlogis permitiu caracterizar as populações em estudo e compará-los quanto à idade, origem geográfica e resistência. Verificou-se que as sementes com três anos apresentaram menor capacidade germinativa (CG do que as sementes com dois anos. Não foi possível ajustar o modelo à população S do Sado nem a duas populações do Baixo Mondego, pela falta de maturidade das sementes. Verificou-se que nas populações S a germinação das sementes era independente do regime de temperatura, enquanto nas populações R, a germinação era favorecida por determinado regime de temperatura, consoante a sua origem geográfica. Assim a germinação das sementes da população do Baixo Mondego (região Centro foi favorecida pelo regime de alternância (15/30 ºC, enquanto a populações das bacias hidrográficas dos rios Sorraia e Sado (região Centro-Sul foram favorecidas pelo regime de temperatura constante (15 ºC. Considerando que, à temperatura de 15 ºC, as sementes das populações R dos arrozais do Centro-Sul do País apresentaram maior CG do que as da região Centro, esta característica pode ser aproveitada para implementar, naquela região, medidas de gestão da resistência durante a fase inicial do ciclo cultural do arroz quando as temperaturas são mais baixas.Seed germination of bensulfuron-methyl resistant (R and susceptible (S Alisma plantagoaquatica biotypes collected in rice fields from

  18. The Aging Kidney: Increased Susceptibility to Nephrotoxicity

    Science.gov (United States)

    Wang, Xinhui; Bonventre, Joseph V.; Parrish, Alan R.

    2014-01-01

    Three decades have passed since a series of studies indicated that the aging kidney was characterized by increased susceptibility to nephrotoxic injury. Data from these experimental models is strengthened by clinical data demonstrating that the aging population has an increased incidence and severity of acute kidney injury (AKI). Since then a number of studies have focused on age-dependent alterations in pathways that predispose the kidney to acute insult. This review will focus on the mechanisms that are altered by aging in the kidney that may increase susceptibility to injury, including hemodynamics, oxidative stress, apoptosis, autophagy, inflammation and decreased repair. PMID:25257519

  19. Fourie susceptible.pmd

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    majority having adequate resistance. Teebus, Cerillos, Bonus and PAN 159 were most susceptible, with Mkuzi exhibiting highest levels of resistance. No correlation was obtained between disease rating and yield. Although a number of cultivars exhibited field resistance to halo blight and bacterial brown spot, all cultivars ...

  20. Dynamic susceptibility of nanopillars

    NARCIS (Netherlands)

    Dao, T.N.N.; Dao, N.; Donahue, M.J.; Dumitru, I.; Spinu, L.; Whittenburg, S.L.; Lodder, J.C.

    2004-01-01

    We have calculated the dynamic susceptibility of patterned cobalt and Permalloy pillars with a diameter of 50 nm and different pillar heights using micromagnetic simulations. The resonance modes obtained from these simulations are compared to the results obtained from an analytical solution of

  1. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  2. Exploring an Ecologically Sustainable Scheme for Landscape Restoration of Abandoned Mine Land: Scenario-Based Simulation Integrated Linear Programming and CLUE-S Model

    Science.gov (United States)

    Zhang, Liping; Zhang, Shiwen; Huang, Yajie; Cao, Meng; Huang, Yuanfang; Zhang, Hongyan

    2016-01-01

    Understanding abandoned mine land (AML) changes during land reclamation is crucial for reusing damaged land resources and formulating sound ecological restoration policies. This study combines the linear programming (LP) model and the CLUE-S model to simulate land-use dynamics in the Mentougou District (Beijing, China) from 2007 to 2020 under three reclamation scenarios, that is, the planning scenario based on the general land-use plan in study area (scenario 1), maximal comprehensive benefits (scenario 2), and maximal ecosystem service value (scenario 3). Nine landscape-scale graph metrics were then selected to describe the landscape characteristics. The results show that the coupled model presented can simulate the dynamics of AML effectively and the spatially explicit transformations of AML were different. New cultivated land dominates in scenario 1, while construction land and forest land account for major percentages in scenarios 2 and 3, respectively. Scenario 3 has an advantage in most of the selected indices as the patches combined most closely. To conclude, reclaiming AML by transformation into more forest can reduce the variability and maintain the stability of the landscape ecological system in study area. These findings contribute to better mapping AML dynamics and providing policy support for the management of AML. PMID:27023575

  3. Exploring an Ecologically Sustainable Scheme for Landscape Restoration of Abandoned Mine Land: Scenario-Based Simulation Integrated Linear Programming and CLUE-S Model.

    Science.gov (United States)

    Zhang, Liping; Zhang, Shiwen; Huang, Yajie; Cao, Meng; Huang, Yuanfang; Zhang, Hongyan

    2016-03-24

    Understanding abandoned mine land (AML) changes during land reclamation is crucial for reusing damaged land resources and formulating sound ecological restoration policies. This study combines the linear programming (LP) model and the CLUE-S model to simulate land-use dynamics in the Mentougou District (Beijing, China) from 2007 to 2020 under three reclamation scenarios, that is, the planning scenario based on the general land-use plan in study area (scenario 1), maximal comprehensive benefits (scenario 2), and maximal ecosystem service value (scenario 3). Nine landscape-scale graph metrics were then selected to describe the landscape characteristics. The results show that the coupled model presented can simulate the dynamics of AML effectively and the spatially explicit transformations of AML were different. New cultivated land dominates in scenario 1, while construction land and forest land account for major percentages in scenarios 2 and 3, respectively. Scenario 3 has an advantage in most of the selected indices as the patches combined most closely. To conclude, reclaiming AML by transformation into more forest can reduce the variability and maintain the stability of the landscape ecological system in study area. These findings contribute to better mapping AML dynamics and providing policy support for the management of AML.

  4. The Impact of Videos Presenting Speakers’ Gestures and Facial Clues on Iranian EFL Learners’ Listening Comprehension

    Directory of Open Access Journals (Sweden)

    Somayeh Karbalaie Safarali

    2012-11-01

    Full Text Available The current research sought to explore the effectiveness of using videos presenting speakers’ gestures and facial clues on Iranian EFL learners’ listening comprehension proficiency. It was carried out at Ayandeh English Institute among 60 advanced female learners with the age range of 17-30 through a quasi-experimental research design. The researcher administered a TOEFL test to determine the homogeneity of the participants regarding both their general English language proficiency level and listening comprehension ability. Participants were randomly assigned into two groups. After coming up with the conclusion that the two groups were homogeneous,  during 10 sessions of treatment, they received two different listening comprehension techniques, i.e. audio-visual group watching the video was equipped with the speaker’s gestures and facial clues, while the audio-only group could just listen to speaker’s voice and no additional clue was presented. Meanwhile, the participants were supposed to answer the questions related to each video. At the end of the treatment, both groups participated in the listening comprehension test of the Longman TOEFL test as the post-test. A t-test was used to compare the mean scores of the two groups, the result of which showed that the learners’ mean score in the audio-visual group was significantly higher than the learners’ mean score in the audio-only group. In conclusion, the result of this study suggests that foreign language pedagogy, especially for adult English learners, would benefit from applying videos presenting speakers’ gestures and facial clues.

  5. Adaptive major histocompatibility complex (MHC) and neutral genetic variation in two native Baltic Sea fishes (perch Perca fluviatilis and zander Sander lucioperca) with comparisons to an introduced and disease susceptible population in Australia (P. fluviatilis): assessing the risk of disease epidemics.

    Science.gov (United States)

    Faulks, L K; Östman, Ö

    2016-04-01

    This study assessed the major histocompatibility complex (MHC) and neutral genetic variation and structure in two percid species, perch Perca fluviatilis and zander Sander lucioperca, in a unique brackish ecosystem, the Baltic Sea. In addition, to assess the importance of MHC diversity to disease susceptibility in these populations, comparisons were made to an introduced, disease susceptible, P. fluviatilis population in Australia. Eighty-three MHC class II B exon 2 variants were amplified: 71 variants from 92 P. fluviatilis samples, and 12 variants from 82 S. lucioperca samples. Microsatellite and MHC data revealed strong spatial genetic structure in S. lucioperca, but not P. fluviatilis, across the Baltic Sea. Both microsatellite and MHC data showed higher levels of genetic diversity in P. fluviatilis from the Baltic Sea compared to Australia, which may have facilitated the spread of an endemic virus, EHNV in the Australian population. The relatively high levels of genetic variation in the Baltic Sea populations, together with spatial genetic structure, however, suggest that there currently seems to be little risk of disease epidemics in this system. To ensure this remains the case in the face of ongoing environmental changes, fisheries and habitat disturbance, the conservation of local-scale genetic variation is recommended. © 2016 The Fisheries Society of the British Isles.

  6. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  7. Marijuana Usage and Hypnotic Susceptibility

    Science.gov (United States)

    Franzini, Louis R.; McDonald, Roy D.

    1973-01-01

    Anonymous self-reported drug usage data and hypnotic susceptibility scores were obtained from 282 college students. Frequent marijuana users (more than 10 times) showed greater susceptibility to hypnosis than nonusers. (Author)

  8. Tracing Clues

    DEFF Research Database (Denmark)

    Feldt, Liv Egholm

    must carefully look for even the smallest and insignificant signs to understand the messiness and blurredness of each phenomenon. Second, it stresses that the context is always situational and thus related to the specific and concrete phenomenon under study. Hence, reading signs becomes an enterprise...... of understanding signs and building their context. Accordingly, the micro-level cannot be separated from the macro-level and vice-versa. Third, it emphasises abduction as the strongest analytical strategy to uncover yet unknown meanings, relations and objects. The limitations and productiveness of these three...

  9. Serotype distribution and antibiotic susceptibility of Streptococcus pneumoniae strains in the south of Tunisia: A five-year study (2012–2016 of pediatric and adult populations

    Directory of Open Access Journals (Sweden)

    Sonia Ktari

    2017-12-01

    Full Text Available Objectives: To analyze the serotype distribution of Streptococcus pneumoniae clinical isolates collected in the south of Tunisia over a 5-year period in different age groups and to assess their antimicrobial susceptibility patterns. Methods: A total of 305 non-duplicate S. pneumoniae isolates were collected between January 2012 and December 2016 at the university hospital in Sfax, Tunisia. All isolates were serotyped by multiplex PCR. The antibiotic susceptibility of all isolates was determined using the disk diffusion test or Etest assay. Results: Among the 305 pneumococcal isolates, 76 (24.9% were invasive and 229 (75.1% were non-invasive. The most common serotypes were 19F (20%, 14 (16.7%, 3 (9.2%, 23F (7.5%, 19A (5.9%, and 6B (5.9%. Potential immunization coverage rates for pneumococcal conjugate vaccines PCV7, PCV10, and PCV13 were 58%, 59.3%, and 78.7%, respectively. Three-quarters (75.3% of pneumococcal isolates were non-susceptible to penicillin. The resistance rate to erythromycin was 71.4%. Only two isolates were resistant to levofloxacin. Conclusions: 19F and 14 were the most prevalent serotypes in the south of Tunisia. The inclusion of a PCV in the immunization program could be useful for reducing the burden of pneumococcal diseases. The high resistance rate to penicillin and macrolides is alarming. Prudent use of antibiotics is crucial to prevent the selection of multidrug-resistant pneumococci. Keywords: Streptococcus pneumoniae, Antibiotic, Serotype, PCV, Tunisia

  10. ERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population.

    Science.gov (United States)

    Castro-Santos, Patricia; Moro-García, Marco Antonio; Marcos-Fernández, Raquel; Alonso-Arias, Rebeca; Díaz-Peña, Roberto

    2017-07-01

    Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease. Interestingly, these associations were confined to individuals carrying HLA class I-risk alleles. The aim of this study was to investigate the association of ERAP1 and ERAP2 SNPs with IBD in a Spanish population, analysing their possible interaction with specific HLA-C alleles to IBD susceptibility. A total of 367 individuals were divided into 216 IBD cases and 151 controls. SNP genotyping was performed using TaqMan® genotyping assays, whereas HLA-C typing was analysed by sequence-specific oligonucleotide probing. Herein, we report an association of the ERAP1 SNP rs30187 with the HLA-C*07 allele. The existence of shared inflammatory pathways in immunologically related diseases together with the understanding of ERAP1 function may offer clues to novel treatment strategies.

  11. Magnetic susceptibilities of minerals

    Science.gov (United States)

    Rosenblum, Sam; Brownfield, I.K.

    2000-01-01

    Magnetic separation of minerals is a topic that is seldom reported in the literature for two reasons. First, separation data generally are byproducts of other projects; and second, this study requires a large amount of patience and is unusually tedious. Indeed, we suspect that most minerals probably are never investigated for this property. These data are timesaving for mineralogists who concentrate mono-mineralic fractions for chemical analysis, age dating, and for other purposes. The data can certainly be used in the ore-beneficiation industries. In some instances, magnetic-susceptibility data may help in mineral identification, where other information is insufficient. In past studies of magnetic separation of minerals, (Gaudin and Spedden, 1943; Tille and Kirkpatrick, 1956; Rosenblum, 1958; Rubinstein and others, 1958; Flinter, 1959; Hess, 1959; Baker, 1962; Meric and Peyre, 1963; Rojas and others, 1965; and Duchesne, 1966), the emphasis has been on the ferromagnetic and paramagnetic ranges of extraction. For readers interested in the history of magnetic separation of minerals, Krumbein and Pettijohn (1938, p. 344-346) indicated nine references back to 1848. The primary purpose of this paper is to report the magnetic-susceptibility data on as many minerals as possible, similar to tables of hardness, specific gravity, refractive indices, and other basic physical properties of minerals. A secondary purpose is to demonstrate that the total and best extraction ranges are influenced by the chemistry of the minerals. The following notes are offered to help avoid problems in separating a desired mineral concentrate from mixtures of mineral grains.

  12. Improving three-dimensional reconstruction of buildings from web-harvested images using forensic clues

    Science.gov (United States)

    Milani, Simone; Tronca, Enrico

    2017-01-01

    During the past years, research has focused on the reconstruction of three-dimensional point cloud models from unordered and uncalibrated sets of images. Most of the proposed solutions rely on the structure-from-motion algorithm, and their performances significantly degrade whenever exchangeable image file format information about focal lengths is missing or corrupted. We propose a preprocessing strategy that permits estimating the focal lengths of a camera more accurately. The basic idea is to cluster the input images into separate subsets according to an array of interpolation-related multimedia forensic clues. This operation permits having a more robust estimate and improving the accuracy of the final model.

  13. Building a 70 billion word corpus of English from ClueWeb

    OpenAIRE

    Pomikálek Jan; Rychlý Pavel; Jakubíček Miloš

    2012-01-01

    This work describes the process of creation of a 70 billion word text corpus of English. We used an existing language resource, namely the ClueWeb09 dataset, as source for the corpus data. Processing such a vast amount of data presented several challenges, mainly associated with pre-processing (boilerplate cleaning, text de-duplication) and post-processing (indexing for efficient corpus querying using the CQL – Corpus Query Language) steps. In this paper we explain how we tackled them: we des...

  14. Seeking new mutation clues from Bacillus licheniformis amylase by molecular dynamics simulations

    Science.gov (United States)

    Lu, Tao

    2009-07-01

    Amylase is one of the most important industrial enzymes in the world. Researchers have been searching for a highly thermal stable mutant for many years, but most focus on point mutations of one or few nitrogenous bases. According to this molecular dynamic simulation of amylase from Bacillus licheniformis (BLA), the deletion of some nitrogenous bases would be more efficacious than point mutations. The simulation reveals strong fluctuation of the BLA structure at optimum temperature. The fluctuation of the outer domains of BLA is stronger than that of the core domain. Molecular simulation provides a clue to design thermal stable amylases through deletion mutations in the outer domain.

  15. Microscopic dynamics in simple liquids: a clue to understanding the basic thermodynamics of the liquid state

    International Nuclear Information System (INIS)

    Cabrillo, C; Bermejo, F J; Maira-Vidal, A; Fernandez-Perea, R; Bennington, S M; Martin, D

    2004-01-01

    The advent of inelastic x-ray scattering techniques has prompted a reawakened interest in the dynamics of simple liquids. Such studies are often carried out using simplified models to account for the stochastic dynamics that give rise to quasielastic scattering. The vibrational and diffusive dynamics of molten potassium are studied here by an experiment using neutron scattering and are shown to provide some clues to understand the basic thermodynamics of the liquid state. The findings reported here suggest ways in which the true complementarity of neutron and x-ray scattering may be profitably exploited

  16. Molecular analysis of polimorphisms in HLA-CLASS II DRB1* and IL7Rα possibly associated with multiple sclerosis susceptibility in a population sample of Rio de Janeiro

    Directory of Open Access Journals (Sweden)

    André Luis dos Santos Figueiredo

    2014-06-01

    Full Text Available Multiple sclerosis (MS is an inflammatory and degenerative disease of the central nervous system (CNS that affects mainly young adults. MS seems to be a polygenic and multifactorial disease, and genetic susceptibility has been associated mainly with the major histocompatibility complex (MHC, which in humans is the human leukocyte antigen (HLA. Among non-HLA genes is the alpha chain of interleukin 7 receptor gene (IL7Rα at the 5p12-14 locus, also known as CD127. The aim of this study was to evaluate the correlations between polymorphism in the IL7Rα (rs6897932C gene, HLA-class II DRB1* haplotypes and susceptibility to multiple sclerosis in patients with Recurrent Remitting form (RRMS. METHOD: In this study, peripheral blood samples were taken from 50 patients diagnosed using the diagnostic criteria for MS according to Polman (MacDonald et al (2011. The patients were monitored at the Clinic of Neurology, Hospital Universitário Clementino Fraga Filho, along with 100 healthy control subjects matched for ancestry, sex and age. After DNA extraction by organic method, polymorphism +244 *C (rs6897932 was assessed by PCR followed by capillary electrophoresis on the ABI PRISM® 3500 Genetic Analyzer (Applied Biosystems, USA platform. RESULTS: The results indicated a significant association between the CC haplotype and RRMS (p=0.02 , OR=2.14, as well as an association between the *C allele (CC and CT and RRMS (p=0.042, OR=2.15. The same C allele was more frequent in the sample, both in patients (0.82, and in the control group (0.71. The sample, control group and patients included, was in Hardy- Weinberg equilibrium. The correlation between the presence of the CC genotype and HLA-DRB1* 15:01 was significant (OR=3.6, p=0.034. CONCLUSION: These results reinforce the polygenic/multifactorial characteristic or genetic heterogeneity of MS, indicating a relationship between putative polymorphism +244*C (CC genotype in the IL7Rα gene and susceptibility to MS

  17. Susceptibility to anchoring effects

    Directory of Open Access Journals (Sweden)

    Todd McElroy

    2007-02-01

    Full Text Available Previous research on anchoring has shown this heuristic to be a very robust psychological phenomenon ubiquitous across many domains of human judgment and decision-making. Despite the prevalence of anchoring effects, researchers have only recently begun to investigate the underlying factors responsible for how and in what ways a person is susceptible to them. This paper examines how one such factor, the Big-Five personality trait of openness-to-experience, influences the effect of previously presented anchors on participants' judgments. Our findings indicate that participants high in openness-to-experience were significantly more influenced by anchoring cues relative to participants low in this trait. These findings were consistent across two different types of anchoring tasks providing convergent evidence for our hypothesis.

  18. Topological susceptibility from slabs

    Energy Technology Data Exchange (ETDEWEB)

    Bietenholz, Wolfgang [Instituto de Ciencias Nucleares, Universidad Nacional Autónoma de México, A.P. 70-543, Distrito Federal, C.P. 04510 (Mexico); Forcrand, Philippe de [Institute for Theoretical Physics, ETH Zürich,CH-8093 Zürich (Switzerland); CERN, Physics Department, TH Unit, CH-1211 Geneva 23 (Switzerland); Gerber, Urs [Instituto de Ciencias Nucleares, Universidad Nacional Autónoma de México, A.P. 70-543, Distrito Federal, C.P. 04510 (Mexico); Instituto de Física y Matemáticas, Universidad Michoacana de San Nicolás de Hidalgo,Edificio C-3, Apdo. Postal 2-82, Morelia, Michoacán, C.P. 58040 (Mexico)

    2015-12-14

    In quantum field theories with topological sectors, a non-perturbative quantity of interest is the topological susceptibility χ{sub t}. In principle it seems straightforward to measure χ{sub t} by means of Monte Carlo simulations. However, for local update algorithms and fine lattice spacings, this tends to be difficult, since the Monte Carlo history rarely changes the topological sector. Here we test a method to measure χ{sub t} even if data from only one sector are available. It is based on the topological charges in sub-volumes, which we denote as slabs. Assuming a Gaussian distribution of these charges, this method enables the evaluation of χ{sub t}, as we demonstrate with numerical results for non-linear σ-models.

  19. Topological Susceptibility from Slabs

    CERN Document Server

    Bietenholz, Wolfgang; Gerber, Urs

    2015-01-01

    In quantum field theories with topological sectors, a non-perturbative quantity of interest is the topological susceptibility chi_t. In principle it seems straightforward to measure chi_t by means of Monte Carlo simulations. However, for local update algorithms and fine lattice spacings, this tends to be difficult, since the Monte Carlo history rarely changes the topological sector. Here we test a method to measure chi_t even if data from only one sector are available. It is based on the topological charges in sub-volumes, which we denote as slabs. Assuming a Gaussian distribution of these charges, this method enables the evaluation of chi_t, as we demonstrate with numerical results for non-linear sigma-models.

  20. Xenopsylla cheopis (Siphonaptera: Pulicidae) Susceptibility to Deltamethrin in Madagascar

    OpenAIRE

    Boyer, Sebastien; Miarinjara, Adélaïde; Elissa, Nohal

    2014-01-01

    The incidence of bubonic plague in Madagascar is high. This study reports the susceptibility of 32 different populations of a vector, the flea Xenopsylla cheopis (Siphonaptera: Pulicidae), to the insecticide Deltamethrin. Despite the use of Deltamethrin against fleas, plague epidemics have re-emerged in Madagascar. The majority of the study sites were located in the Malagasy highlands where most plague cases have occurred over the last 10 years. X. cheopis fleas were tested for susceptibility...

  1. The Effectiveness of Using Contextual Clues, Dictionary Strategy and Computer Assisted Language Learning (Call In Learning Vocabulary

    Directory of Open Access Journals (Sweden)

    Zuraina Ali

    2013-07-01

    Full Text Available This study investigates the effectiveness of three vocabulary learning methods that are Contextual Clues, Dictionary Strategy, and Computer Assisted Language Learning (CALL in learning vocabulary among ESL learners. First, it aims at finding which of the vocabulary learning methods namely Dictionary Strategy, Contextual Clues, and CALL that may result in the highest number of words learnt in the immediate and delayed recall tests. Second, it compares the results of the Pre-test and the Delayed Recall Post-test to determine the differences of learning vocabulary using the methods. A quasi-experiment that tested the effectiveness of learning vocabulary using Dictionary Strategy, Contextual clues, and CALL involved 123 first year university students. Qualitative procedures included the collection of data from interviews which were conducted to triangulate the data obtain from the quantitative inquiries. Findings from the study using ANOVA revealed that there were significant differences when students were exposed to Dictionary Strategy, Contextual Clues and CALL in the immediate recall tests but not in the Delayed Recall Post-test. Also, there were significant differences when t test was used to compare the scores between the Pre-test and the Delayed Recall Post-test in using the three methods of vocabulary learning. Although many researchers have advocated the relative effectiveness of Dictionary Strategy, Contextual Clues, and CALL in learning vocabulary, the study however, is still paramount since there is no study has ever empirically investigated the relative efficacy of these three methods in a single study.

  2. Susceptibilidad a endosulfan y monitoreo de resistencia en poblaciones de Piezodorus guildinii (Insecta, Heteroptera: Pentatomidae, en cultivos de soja de Argentina Susceptibility to endosulphan and resistance monitoring in «green stinkbug» populations, Piezodorus guildinii (Insecta, Heteroptera: Pentatomidae, in soya crops in Argentina

    Directory of Open Access Journals (Sweden)

    Teodoro Stadler

    2006-12-01

    susceptibilidad a xenobióticos con base genética, resulten difusos. Dentro del área de cultivo de la soja en la Argentina , que abarca regiones con importantes diferencias climáticas y florísticas, la plasticidad fenotípica que muestran diferentes poblaciones de P. guildinii , no debe ser omitida, distinguiendo los cambios de susceptibilidad a insecticidas relacionados con la plasticidad, de aquellos de origen genético. Comprender los mecanismos responsables de cambios en la susceptibilidad a xenobióticos, permitirá discernir entre los efectos de la plasticidad fenotípica y de los cambios genéticos, esto llevará a seleccionar las medidas adecuadas para el control de poblaciones de insectos plaga. La información acerca del estatus actual de susceptibilidad a endosulfan, obtenida a través del presente estudio, resultará de utilidad para el monitoreo de resistencia así como para el diagnóstico de fallas en el control de esta plaga.The susceptibility status to endosulphan of different populations of P. guildinii (Westwood that affect soybean crops in the Argentinean provinces of Santiago del Estero, Chaco and Santa Fe was determined. Also, to detect possible changes in P. guildinii response to the insecticide, resistance was monitored in a population of P. guildinii from Santiago del Estero from 2002 to 2005. Insects were collected from soybean fields in five localities, Oliveros, Reconquista, San Justo, Bandera and Coronel Du Graty. Topical bioassays were conducted in the laboratory, in the framework of standard World Health Organization test methods. The status of the susceptibility of the P. guildinii populations was: DL95 = 0,680μg/μL [0,489- 1,338] to 2,277μg/μL [1,526-5,418]. The results obtained suggest that the populations studied, which are geographically distant, show differences in their tolerance to endosulphan (detoxifying capabilities that could be related to environmental factors and linked to any toxicocinetic or toxicodynamic processes. P

  3. Tylosin susceptibility of Staphylococci from bovine mastitis.

    Science.gov (United States)

    Entorf, Monika; Feßler, Andrea T; Kadlec, Kristina; Kaspar, Heike; Mankertz, Joachim; Peters, Thomas; Schwarz, Stefan

    2014-07-16

    Although the 16-membered macrolide tylosin is commonly used for the treatment of bovine mastitis, little information is currently available about the susceptibility of mastitis pathogens to tylosin. In the present study, 112 Staphylococcus aureus and 110 coagulase-negative Staphylococcus (CoNS) spp. isolates from cases of bovine mastitis were tested by broth microdilution and agar disk diffusion with 30 μg tylosin disks. Susceptibility to erythromycin was tested by broth microdilution and disk diffusion using 15 μg disks. Both test populations showed bimodal distributions of minimal inhibitory concentrations (MICs) and zone diameters with eleven S. aureus and eight CoNS isolates showing tylosin MICs of ≥ 256 μg/ml and no zones of growth inhibition around the tylosin 30 μg disks. All 19 isolates with tylosin MICs of ≥ 256 μg/ml were also resistant to erythromycin. For six additional erythromycin-resistant isolates, tylosin MICs of 1-8 μg/ml were observed. One S. aureus and two CoNS isolates showed inducible macrolide resistance. PCR analysis of the 25 erythromycin-resistant staphylococcal isolates identified the resistance genes erm(A), erm(B), erm(C), erm(T), mph(C) and msr(A) alone or in different combinations. An excellent correlation between the results of the different tylosin susceptibility tests (broth microdilution versus disk diffusion) was seen for S. aureus and CoNS isolates. Since tylosin does not induce the expression of the aforementioned erm genes, isolates with an inducible resistance phenotype may - if only tylosin is tested - be falsely classified as tylosin-susceptible. Thus, erythromycin should be tested in parallel and tylosin should only be used for the treatment of infections caused by erythromycin-susceptible staphylococci. Copyright © 2013 Elsevier B.V. All rights reserved.

  4. A major genetic component of BSE susceptibility

    Science.gov (United States)

    Juling, Katrin; Schwarzenbacher, Hermann; Williams, John L; Fries, Ruedi

    2006-01-01

    Background Coding variants of the prion protein gene (PRNP) have been shown to be major determinants for the susceptibility to transmitted prion diseases in humans, mice and sheep. However, to date, the effects of polymorphisms in the coding and regulatory regions of bovine PRNP on bovine spongiform encephalopathy (BSE) susceptibility have been considered marginal or non-existent. Here we analysed two insertion/deletion (indel) polymorphisms in the regulatory region of bovine PRNP in BSE affected animals and controls of four independent cattle populations from UK and Germany. Results In the present report, we show that two previously reported 23- and 12-bp insertion/deletion (indel) polymorphisms in the regulatory region of bovine PRNP are strongly associated with BSE incidence in cattle. Genotyping of BSE-affected and control animals of UK Holstein, German Holstein, German Brown and German Fleckvieh breeds revealed a significant overrepresentation of the deletion alleles at both polymorphic sites in diseased animals (P = 2.01 × 10-3 and P = 8.66 × 10-5, respectively). The main effect on susceptibility is associated with the 12-bp indel polymorphism. Compared with non-carriers, heterozygous and homozygous carriers of the 12-bp deletion allele possess relatively higher risks of having BSE, ranging from 1.32 to 4.01 and 1.74 to 3.65 in the different breeds. These values correspond to population attributable risks ranging from 35% to 53%. Conclusion Our results demonstrate a substantial genetic PRNP associated component for BSE susceptibility in cattle. Although the BSE risk conferred by the deletion allele of the 12-bp indel in the regulatory region of PRNP is substantial, the main risk factor for BSE in cattle is environmental, i.e. exposure to feedstuffs contaminated with the infectious agent. PMID:17014722

  5. A major genetic component of BSE susceptibility

    Directory of Open Access Journals (Sweden)

    Williams John L

    2006-10-01

    Full Text Available Abstract Background Coding variants of the prion protein gene (PRNP have been shown to be major determinants for the susceptibility to transmitted prion diseases in humans, mice and sheep. However, to date, the effects of polymorphisms in the coding and regulatory regions of bovine PRNP on bovine spongiform encephalopathy (BSE susceptibility have been considered marginal or non-existent. Here we analysed two insertion/deletion (indel polymorphisms in the regulatory region of bovine PRNP in BSE affected animals and controls of four independent cattle populations from UK and Germany. Results In the present report, we show that two previously reported 23- and 12-bp insertion/deletion (indel polymorphisms in the regulatory region of bovine PRNP are strongly associated with BSE incidence in cattle. Genotyping of BSE-affected and control animals of UK Holstein, German Holstein, German Brown and German Fleckvieh breeds revealed a significant overrepresentation of the deletion alleles at both polymorphic sites in diseased animals (P = 2.01 × 10-3 and P = 8.66 × 10-5, respectively. The main effect on susceptibility is associated with the 12-bp indel polymorphism. Compared with non-carriers, heterozygous and homozygous carriers of the 12-bp deletion allele possess relatively higher risks of having BSE, ranging from 1.32 to 4.01 and 1.74 to 3.65 in the different breeds. These values correspond to population attributable risks ranging from 35% to 53%. Conclusion Our results demonstrate a substantial genetic PRNP associated component for BSE susceptibility in cattle. Although the BSE risk conferred by the deletion allele of the 12-bp indel in the regulatory region of PRNP is substantial, the main risk factor for BSE in cattle is environmental, i.e. exposure to feedstuffs contaminated with the infectious agent.

  6. Genetic variability at promoters of IL-18 (pro-) and IL-10 (anti-) inflammatory gene affects susceptibility and their circulating serum levels: An explorative study of prostate cancer patients in North Indian populations.

    Science.gov (United States)

    Dwivedi, Shailendra; Goel, Apul; Khattri, Sanjay; Mandhani, Anil; Sharma, Praveen; Misra, Sanjeev; Pant, Kamlesh Kumar

    2015-07-01

    Inflammation is an important hallmark of all types of cancers with a well-established role in carcinogenesis. The net inflammatory response is determined by the balance between pro- and anti-inflammatory cytokines, the levels of which may be affected by the genetic make-up. Interleukin (IL)-18, a pro-inflammatory cytokine expressed by various cells including those of the prostate, is a key mediator of anti-cancer immune response. IL-10, an anti-inflammatory cytokine associated with tumour malignancy, causes escape from immune surveillance. This study hypothesizes that genetic variants of IL-18 (-607 C/A and -137 G/T) and IL-10 (-819 C/T and -592 C/A) may influence the circulating levels of these interleukins, thereby generating susceptibility risk to prostate cancer. The study was conducted on 676 subjects (controls and patients of prostate cancer (PCa): 291 each; and 94 patients with benign prostate hypertrophy (BPH)). Genotyping was performed by PCR-RFLP and Real-Time PCR probe-based method. Circulating interleukin levels were obtained by ELISA. Circulating IL-18 levels were significantly elevated in cancer and BPH patients carrying GG genotypes for -137 of IL-18. The trend of circulating IL-18 levels was GG>GC>CC, observed in all groups. The -137 genetic variants of IL-18 significantly associated with PCa risk were GC, CC, and GC+CC, compared to GG (OR: 1.71, 95% CI: 1.20-2.46; OR: 3.35, 95% CI: 2.03-5.53; and OR: 2.05, 95% CI: 1.46-2.87, respectively). A significant association of AA and CA+AA against CC genotype was observed at -607 locus of IL-18 (OR: 0.46, 95%CI: 0.29-0.72; OR: 0.61, 95% CI: 0.41-0.90, respectively). Significantly elevated levels of IL-10 were observed with TT (wild) genotype at -819 of IL-10, compared to the CC (homozygous mutant) genotype in all three groups of subjects. However, no significant association was found between IL-10 promoter genotypes and PCa risk. We conclude that genetic variants of IL-18 and IL-10 promoters influence the

  7. Age and prior blood feeding of Anopheles gambiae influences their susceptibility and gene expression patterns to ivermectin-containing blood meals.

    Science.gov (United States)

    Seaman, Jonathan A; Alout, Haoues; Meyers, Jacob I; Stenglein, Mark D; Dabiré, Roch K; Lozano-Fuentes, Saul; Burton, Timothy A; Kuklinski, Wojtek S; Black, William C; Foy, Brian D

    2015-10-15

    Ivermectin has been proposed as a novel malaria transmission control tool based on its insecticidal properties and unique route of acquisition through human blood. To maximize ivermectin's effect and identify potential resistance/tolerance mechanisms, it is important to understand its effect on mosquito physiology and potential to shift mosquito population age-structure. We therefore investigated ivermectin susceptibility and gene expression changes in several age groups of female Anopheles gambiae mosquitoes. The effect of aging on ivermectin susceptibility was analyzed in three age groups (2, 6, and 14-days) of colonized female Anopheles gambiaemosquitoes using standard survivorship assays. Gene expression patterns were then analyzed by transcriptome sequencing on an Illumina HiSeq 2500 platform. RT-qPCR was used to validate transcriptional changes and also to examine expression in a different, colonized strain and in wild mosquitoes, both of which blood fed naturally on an ivermectin-treated person. Mosquitoes of different ages and blood meal history died at different frequencies after ingesting ivermectin. Mortality was lowest in 2-day old mosquitoes exposed on their first blood meal and highest in 6-day old mosquitoes exposed on their second blood meal. Twenty-four hours following ivermectin ingestion, 101 and 187 genes were differentially-expressed relative to control blood-fed, in 2 and 6-day groups, respectively. Transcription patterns of select genes were similar in membrane-fed, colonized, and naturally-fed wild vectors. Transcripts from several unexpected functional classes were highly up-regulated, including Niemann-Pick Type C (NPC) genes, peritrophic matrix-associated genes, and immune-response genes, and these exhibited different transcription patterns between age groups, which may explain the observed susceptibility differences. Niemann-Pick Type 2 genes were the most highly up-regulated transcripts after ivermectin ingestion (up to 160 fold) and

  8. FcGammaRIIa polymorphism and anti-malaria specific IgG and IgG subclass responses in populations differing in susceptibility to malaria in Burkina Faso

    DEFF Research Database (Denmark)

    Cherif, Mariama K; Sanou, Guillaume S; Maiga, Boubakar

    2012-01-01

    addressed these questions in Burkina Faso. The present study aimed to assess the influence of Fc¿RIIa-R131H polymorphism on anti- falciparum malaria IgG and IgG subclass responses in the Fulani and the Mossi ethnic groups living in Burkina-Faso. Healthy adults more than 20 years old belonging to the Mossi......Fc¿RIIa is known to be polymorphic; and certain variants err associated with differt susceptibilities to malaria. Studies involving the Fulani ethnic group reported an ethnic difference in Fc¿RIIa-R131H genotype frequencies between the Fulani and other sympatric groups. No previous studies have...... group. For all tested antigens, the Fulani had higher antibody levels than the Mossi group. In both ethnic groups, a similar distribution of Fc¿RIIa R131H polymorphism was found. Individuals with the R allele of Fc¿RIIa had higher antibodies levels than those with the H allele. The present study...

  9. Immune gene expression in Bombus terrestris: signatures of infection despite strong variation among populations, colonies, and sister workers.

    Directory of Open Access Journals (Sweden)

    Franziska S Brunner

    Full Text Available Ecological immunology relies on variation in resistance to parasites. Colonies of the bumblebee Bombus terrestris vary in their susceptibility to the trypanosome gut parasite Crithidia bombi, which reduces colony fitness. To understand the possible origin of this variation in resistance we assayed the expression of 28 immunologically important genes in foraging workers. We deliberately included natural variation of the host "environment" by using bees from colonies collected in two locations and sampling active foraging workers that were not age controlled. Immune gene expression patterns in response to C. bombi showed remarkable variability even among genetically similar sisters. Nevertheless, expression varied with parasite exposure, among colonies and, perhaps surprisingly, strongly among populations (collection sites. While only the antimicrobial peptide abaecin is universally up regulated upon exposure, linear discriminant analysis suggests that the overall exposure effect is driven by a combination of several immune pathways and further immune functions such as ROS regulation. Also, the differences among colonies in their immune gene expression profiles provide clues to the mechanistic basis of well-known inter-colony variation in susceptibility to this parasite. Our results show that transcriptional responses to parasite exposure can be detected in ecologically heterogeneous groups despite strong background noise.

  10. Unusual primary intraosseous meningioma, mimicking cranial osteoid osteoma: A radiological clue to the differential diagnosis

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Izumo

    2014-01-01

    Full Text Available Primary intraosseous meningioma of the skull is rare. We report a patient who presented with a history of an enlarging scalp mass over 30 years. Noncontrast computed tomography demonstrated a densely calcified right frontal extra-axial mass lesion. Magnetic resonance imaging of the lesion demonstrated heterogeneous hypointensity on T1-and T2-wieghted images and without evidence of gadolinium contrast enhancement. And the mass showed heterogeneous isointensity on diffusion weighted image. Preoperative diagnosis for the lesion was osteoid osteoma of the right frontoparietal bone, and total excision of the tumor was carried out. Histological examination showed intraosseous meningothelial meningioma. We should be aware of the primary intraosseous meningioma showing the classical radiological findings of cranial osteoid osteoma. The radiological clue for the accurate diagnosis is discussed.

  11. Occult Iliac Deep Vein Thrombosis in Second Trimester Pregnancy: Clues on Bedside Ultrasound

    Directory of Open Access Journals (Sweden)

    Roopa Avula

    2017-05-01

    Full Text Available Isolated pelvic deep vein thromboses (DVT are rare and difficult to diagnose, but they are more common in pregnant women and carry an increased risk of embolization. Pulmonary embolism is the most common non-obstetric cause of death in pregnancy. Compression ultrasound is the first-line imaging test for suspected lower extremity DVT, but it cannot usually aid in directly visualizing or easily diagnosing isolated pelvic DVT. Nonetheless, point-of-care ultrasound (POCUS may provide valuable clues to help rule in pelvic DVT and expedite initiation of anticoagulant therapy. Such findings include increased venous diameter, increased resistance to compression, visible venous reflux, and blunted phasicity. This case presents an example of how these findings on POCUS led the emergency physician to make the difficult diagnosis of pelvic DVT at the bedside within seconds.

  12. 'Batman excision' of ventral skin in hypospadias repair, clue to aesthetic repair (point of technique).

    Science.gov (United States)

    Hoebeke, P B; De Kuyper, P; Van Laecke, E

    2002-11-01

    In the hypospadiac penis the ventral skin is poorly developed, while dorsal skin is redundant. The classical Byars' flaps are a way to use the excess dorsal skin to cover the penile shaft. The appearance after Byars' flaps however is not natural. We use a more natural looking skin allocation with superior aesthetic results. The clue in this reconstruction is an inverted triangle shaped excision of ventral skin expanding over the edges of the hooded prepuce (which makes it look like Batman). After excision of the ventral skin it is possible to close the penile skin in the midline, thus mimicking the natural raphe. In case of preputial reconstruction the excised ventral skin makes the prepuce look more natural. The trend of further refining aesthetic appearance of the hypospadiac penis often neglects the penile skin reconstruction. A technique is presented by which the total penile appearances after surgery ameliorates due to better skin reconstruction.

  13. Solar Irradiances Measured using SPN1 Radiometers: Uncertainties and Clues for Development

    Energy Technology Data Exchange (ETDEWEB)

    Badosa, Jordi; Wood, John; Blanc, Philippe; Long, Charles N.; Vuilleumier, Laurent; Demengel, Dominique; Haeffelin, Martial

    2014-12-08

    The fast development of solar radiation and energy applications, such as photovoltaic and solar thermodynamic systems, has increased the need for solar radiation measurement and monitoring, not only for the global component but also the diffuse and direct. End users look for the best compromise between getting close to state-of-the-art measurements and keeping capital, maintenance and operating costs to a minimum. Among the existing commercial options, SPN1 is a relatively low cost solar radiometer that estimates global and diffuse solar irradiances from seven thermopile sensors under a shading mask and without moving parts. This work presents a comprehensive study of SPN1 accuracy and sources of uncertainty, which results from laboratory experiments, numerical modeling and comparison studies between measurements from this sensor and state-of-the art instruments for six diverse sites. Several clues are provided for improving the SPN1 accuracy and agreement with state-of-the-art measurements.

  14. Cutaneous cut sign: A clue to self inflicted carving on the body by sharp object

    Directory of Open Access Journals (Sweden)

    Vipul Namdeorao Ambade

    2016-09-01

    Full Text Available Suicide notes are usually written with pen or marker on a paper, notebook, wall or mirror. However, suicide notes written on one’s own body is very rare, and suicide note engraved with some metallic object on the body has not been reported yet. In the present suicidal death, the victim while carving some letters on the left arm with a razor had an incidental cut on right thumb. This incidental cut on the palm may be referred as “cutaneous cut sign” which gives a clue that the carving on the body with a sharp object was written by the victim himself. It also provides an additional importance of examination of palm for the presence of supportive evidences.

  15. Skip areas of retained melanin: A clue to the histopathological diagnosis of idiopathic guttate hypomelanosis

    Directory of Open Access Journals (Sweden)

    Rajiv Joshi

    2014-01-01

    Full Text Available Biopsy findings in 55 cases of idiopathic guttate hypomelanosis (IGH are reported. Most cases had a flat epidermis with loss of the rete pattern and a thickened orthokeratotic basket weave stratum corneum. The epidermis had markedly decreased to absent melanin in the basal layer and reduced numbers of melanocytes at the dermoepidermal junction. One-third of patients had a sparse perivascular lymphocytic infiltrate, whereas the rest had no significant dermal inflammation. These findings are in concordance with current literature.However, small foci of retained melanin in the basal layer (skip areas alternating with larger areas of melanin loss were present in almost 80% of cases. This finding has not been reported earlier and appears to be quite specific to IGH and may be used as a clue to differentiate IGH from other similar conditions such as vitiligo and guttate morphea.

  16. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.

    Science.gov (United States)

    Gantner, Susanne; Rütten, Arno; Requena, Luis; Gassenmaier, Gerhard; Landthaler, Michael; Hafner, Christian

    2014-10-01

    CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Individual Genetic Susceptibility

    Energy Technology Data Exchange (ETDEWEB)

    Eric J. Hall

    2008-12-08

    Risk estimates derived from epidemiological studies of exposed populations, as well as the maximum permissible doses allowed for occupational exposure and exposure of the public to ionizing radiation are all based on the assumption that the human population is uniform in its radiosensitivity, except for a small number of individuals, such as ATM homozygotes who are easily identified by their clinical symptoms. The hypothesis upon which this proposal is based is that the human population is not homogeneous in radiosensitiviry, but that radiosensitive sub-groups exist which are not easy to identify. These individuals would suffer an increased incidence of detrimental radiation effects, and distort the shape of the dose response relationship. The radiosensitivity of these groups depend on the expression levels of specific proteins. The plan was to investigate the effect of 3 relatively rare, high penetrate genes available in mice, namely Atm, mRad9 & Brca1. The purpose of radiation protection is to prevent! deterministic effects of clinical significance and limit stochastic effects to acceptable levels. We plan, therefore to compare with wild type animals the radiosensitivity of mice heterozygous for each of the genes mentioned above, as well as double heterozygotes for pairs of genes, using two biological endpoints: a) Ocular cataracts as an important and relevant deterministic effect, and b) Oncogenic transformation in cultured embryo fibroblasts, as a surrogate for carcinogenesis, the most relevant stochastic effect.

  18. A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B

    DEFF Research Database (Denmark)

    Yamauchi, Toshimasa; Hara, Kazuo; Maeda, Shiro

    2010-01-01

    We conducted a genome-wide association study of type 2 diabetes (T2D) using 459,359 SNPs in a Japanese population with a three-stage study design (stage 1, 4,470 cases and 3,071 controls; stage 2, 2,886 cases and 3,087 controls; stage 3, 3,622 cases and 2,356 controls). We identified new associat......We conducted a genome-wide association study of type 2 diabetes (T2D) using 459,359 SNPs in a Japanese population with a three-stage study design (stage 1, 4,470 cases and 3,071 controls; stage 2, 2,886 cases and 3,087 controls; stage 3, 3,622 cases and 2,356 controls). We identified new...

  19. Genetic heterogeneity in breast cancer susceptibility.

    Science.gov (United States)

    Andersen, T I

    1996-01-01

    Approximately 20% of breast cancer patients have a family history of the disease, and in one-fourth of these cases breast cancer appears to be inherited as an autosomally dominant trait. Five genes and gene regions involved in breast cancer susceptibility have been uncovered. Germ-line mutations in the recently cloned BRCA1 gene at 17q21 is considered to be responsible for the disease in a majority of the breast-ovarian cancer families and in 40-45% of the site-specific breast cancer families, but appears not to be involved in families with both male and female breast cancer cases. The BRCA2 locus at 13q12-q13 appears to be involved in 40-45% of the site-specific breast cancer families, and in most of the families with affected males. The gene located in this region, however, does not seem to confer susceptibility to ovarian cancer. The TP53 gene is involved in breast cancer development in the Li-Fraumeni syndrome and Li-Fraumeni syndrom-like families, whereas germ-line mutations in the androgen receptor (AR) gene is present in a subset of male breast cancers. Furthermore, females who are obligate carriers of ataxia telangiectasia (AT) have a 4-12 times relative risk of developing breast cancer as compared with the general female population, indicating that germ-line mutations in AT also confer susceptibility to breast cancer.

  20. [Antimicrobial susceptibility in Chile 2012].

    Science.gov (United States)

    Cifuentes-D, Marcela; Silva, Francisco; García, Patricia; Bello, Helia; Briceño, Isabel; Calvo-A, Mario; Labarca, Jaime

    2014-04-01

    Bacteria antimicrobial resistance is an uncontrolled public health problem that progressively increases its magnitude and complexity. The Grupo Colaborativo de Resistencia, formed by a join of experts that represent 39 Chilean health institutions has been concerned with bacteria antimicrobial susceptibility in our country since 2008. In this document we present in vitro bacterial susceptibility accumulated during year 2012 belonging to 28 national health institutions that represent about 36% of hospital discharges in Chile. We consider of major importance to report periodically bacteria susceptibility so to keep the medical community updated to achieve target the empirical antimicrobial therapies and the control measures and prevention of the dissemination of multiresistant strains.

  1. Old Stellar Populations of The VGS Void Galaxies

    NARCIS (Netherlands)

    Beygu, Burcu; Jarrett, Thomas; Jarrett, Tom; van de Weygaert, Rien; Kreckel, Kathryn; van der Hulst, Thijs; van Gorkom, Jacqueline

    Cosmic voids form an essential ingredient of the Cosmic Web and may harbour a systematically different population of galaxies. Largely unaffected by the complex processes modifying galaxies in high-density environments, the pristine and isolated void regions must hold important clues to the

  2. CISH and susceptibility to infectious diseases.

    Science.gov (United States)

    Khor, Chiea C; Vannberg, Fredrik O; Chapman, Stephen J; Guo, Haiyan; Wong, Sunny H; Walley, Andrew J; Vukcevic, Damjan; Rautanen, Anna; Mills, Tara C; Chang, Kwok-Chiu; Kam, Kai-Man; Crampin, Amelia C; Ngwira, Bagrey; Leung, Chi-Chiu; Tam, Cheuk-Ming; Chan, Chiu-Yeung; Sung, Joseph J Y; Yew, Wing-Wai; Toh, Kai-Yee; Tay, Stacey K H; Kwiatkowski, Dominic; Lienhardt, Christian; Hien, Tran-Tinh; Day, Nicholas P; Peshu, Nobert; Marsh, Kevin; Maitland, Kathryn; Scott, J Anthony; Williams, Thomas N; Berkley, James A; Floyd, Sian; Tang, Nelson L S; Fine, Paul E M; Goh, Denise L M; Hill, Adrian V S

    2010-06-03

    The interleukin-2-mediated immune response is critical for host defense against infectious pathogens. Cytokine-inducible SRC homology 2 (SH2) domain protein (CISH), a suppressor of cytokine signaling, controls interleukin-2 signaling. Using a case-control design, we tested for an association between CISH polymorphisms and susceptibility to major infectious diseases (bacteremia, tuberculosis, and severe malaria) in blood samples from 8402 persons in Gambia, Hong Kong, Kenya, Malawi, and Vietnam. We had previously tested 20 other immune-related genes in one or more of these sample collections. We observed associations between variant alleles of multiple CISH polymorphisms and increased susceptibility to each infectious disease in each of the study populations. When all five single-nucleotide polymorphisms (SNPs) (at positions -639, -292, -163, +1320, and +3415 [all relative to CISH]) within the CISH-associated locus were considered together in a multiple-SNP score, we found an association between CISH genetic variants and susceptibility to bacteremia, malaria, and tuberculosis (P=3.8x10(-11) for all comparisons), with -292 accounting for most of the association signal (P=4.58x10(-7)). Peripheral-blood mononuclear cells obtained from adult subjects carrying the -292 variant, as compared with wild-type cells, showed a muted response to the stimulation of interleukin-2 production--that is, 25 to 40% less CISH expression. Variants of CISH are associated with susceptibility to diseases caused by diverse infectious pathogens, suggesting that negative regulators of cytokine signaling have a role in immunity against various infectious diseases. The overall risk of one of these infectious diseases was increased by at least 18% among persons carrying the variant CISH alleles. 2010 Massachusetts Medical Society

  3. Hypnotic susceptibility and dream characteristics.

    Science.gov (United States)

    Zamore, N; Barrett, D

    1989-11-01

    This study examined the relationship of hypnotic susceptibility to a variety of dream characteristics and types of dream content. A Dream Questionnaire was constructed synthesizing Gibson's dream inventory and Hilgard's theoretical conceptions of hypnosis. Employing the Harvard Group Scale of Hypnotic Susceptibility and the Field Inventory for evaluating hypnotic response, several dream dimensions correlated significantly with hypnotizability. For subjects as a whole, the strongest correlates were the frequency of dreams which they believed to be precognitive and out-of-body dreams. Ability to dream on a chosen topic also correlated significantly with hypnotic susceptibility for both genders. For females only, there was a negative correlation of hypnotic susceptibility to flying dreams. Absorption correlated positively with dream recall, ability to dream on a chosen topic, reports of conflict resolution in dreams, creative ideas occurring in dreams, amount of color in dreams, pleasantness of dreams, bizarreness of dreams, flying dreams and precognitive dreams.

  4. Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals

    Science.gov (United States)

    Below, J. E.; Gamazon, E. R.; Morrison, J. V.; Konkashbaev, A.; Pluzhnikov, A.; McKeigue, P. M.; Parra, E. J.; Elbein, S. C.; Hallman, D. M.; Nicolae, D. L.; Bell, G. I.; Cruz, M.

    2013-01-01

    Aims/hypothesis We conducted genome-wide association studies (GWASs) and expression quantitative trait loci (eQTL) analyses to identify and characterise risk loci for type 2 diabetes in Mexican-Americans from Starr County, TX, USA. Method Using 1.8 million directly interrogated and imputed genotypes in 837 unrelated type 2 diabetes cases and 436 normoglycaemic controls, we conducted Armitage trend tests. To improve power in this population with high disease rates, we also performed ordinal regression including an intermediate class with impaired fasting glucose and/or glucose tolerance. These analyses were followed by meta-analysis with a study of 967 type 2 diabetes cases and 343 normoglycaemic controls from Mexico City, Mexico. Result The top signals (unadjusted p value <1×10−5) included 49 single nucleotide polymorphisms (SNPs) in eight gene regions (PER3, PARD3B, EPHA4, TOMM7, PTPRD, HNT [also known as RREB1], LOC729993 and IL34) and six intergenic regions. Among these was a missense polymorphism (rs10462020; Gly639Val) in the clock gene PER3, a system recently implicated in diabetes. We also report a second signal (minimum p value 1.52× 10−6) within PTPRD, independent of the previously implicated SNP, in a population of Han Chinese. Top meta-analysis signals included known regions HNF1A and KCNQ1. Annotation of top association signals in both studies revealed a marked excess of trans-acting eQTL in both adipose and muscle tissues. Conclusions/Interpretation In the largest study of type 2 diabetes in Mexican populations to date, we identified modest associations of novel and previously reported SNPs. In addition, in our top signals we report significant excess of SNPs that predict transcript levels in muscle and adipose tissues. PMID:21647700

  5. Ancestral susceptibility to colorectal cancer

    Czech Academy of Sciences Publication Activity Database

    Huhn, S.; Pardini, Barbara; Naccarati, Alessio; Vodička, Pavel (ed.); Hemminki, K.; Försti, A.

    2012-01-01

    Roč. 27, č. 2 (2012), s. 197-204 ISSN 0267-8357 R&D Projects: GA ČR GA310/07/1430; GA ČR GAP304/10/1286 Grant - others:EU FP7(XE) HEALTH-F4-2007-200767 Institutional research plan: CEZ:AV0Z50390512 Keywords : cancer susceptibility * molecular epidemiology * genetic susceptibility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.500, year: 2012

  6. SNP at miR-483-5p-binding site in the 3'-untranslated region of the BSG gene is associated with susceptibility to esophageal cancer in a Chinese population.

    Science.gov (United States)

    Li, H Y; Liu, Y C; Bai, Y H; Sun, M; Wang, L; Zhang, X B; Cai, B

    2016-06-20

    The aim of this study was to investigate the association between a functional variant of the basigin (BSG) gene, caused by a polymorphism (rs11473) at the miR-483-5p binding site, and the risk of esophageal squamous cell carcinoma (ESCC) in the Chinese population. The rs11473 polymorphism was genotyped in 624 esophageal cancer patients and 636 cancer-free age- and gender-matched controls using polymerase chain reaction restriction and direct sequencing. The functional variants resulting from the BSG rs11473 SNP were investigated using a luciferase activity assay and validated by immunoblotting. We discovered that ESCC patients carrying the rs11473 AA genotype or A allele were at a significantly higher risk of esophageal cancer [odds ratio (OR) = 1.560, 95% confidence interval  (CI) = 1.031-2.358, P = 0.037; OR = 1.231, 95%CI = 1.038-1.459, P = 0.017, respectively] than those carrying the GG genotype and G allele. Moreover, the rs11473 polymorphism modifies the binding of miR-483- 5p to basigin, as well as the basigin protein levels in esophageal cancer patients. Our data suggested that the rs11473 polymorphism at the miR- 483-5p binding site in the 3'-UTR of basigin gene may play a key role in the development of esophageal cancer in a Chinese population.

  7. Group B Streptococcus infection: epidemiology, serotypes, and antimicrobial susceptibility of selected isolates in the population beyond infancy (excluding females with genital tract- and pregnancy-related isolates) at the University Malaya Medical Centre, Kuala Lumpur.

    Science.gov (United States)

    Karunakaran, Rina; Raja, Nadeem Sajjad; Hafeez, Asma; Puthucheary, Savithri D

    2009-05-01

    Group B Streptococcus (GBS) infection was studied in 49 patients collected at convenience (convenience sampling), excluding infants and women with genital tract- and pregnancy-related isolates, according to the availability of stocked isolates and easy accessibility to epidemiological data. The data were examined both prospectively and retrospectively from 2003-2005 at a tertiary-level multidisciplinary hospital in Kuala Lumpur, Malaysia. Skin and soft-tissue infections in 35 patients (71.4%) were the most common clinical presentation, while diabetes mellitus was the most common underlying condition (35 patients, 71.4%). All GBS isolates were sensitive to penicillin, and most isolates tested were sensitive to erythromycin (97.7%). Serotyping of 45 GBS isolates using a commercial serotyping kit revealed that the most common serotype was Ia (22.2%), followed by VI (17.8%), III and V (13.3% each). Others included Ib, II, IV, VIII, and VII; 13.3% were nontypeable. The findings of this pilot study are limited by the small sample size, the sampling method and the possibility that the cases are not wholly representative of the University Malaya Medical Centre population. Further studies from our hospital with larger numbers and using probabilistic sampling techniques are required to confirm the relatively high occurrence of serotype VI (the second most common serotype) in the population studied.

  8. Nucleotide-binding oligomerization domain containing 1 (NOD1 haplotypes and single nucleotide polymorphisms modify susceptibility to inflammatory bowel diseases in a New Zealand caucasian population: a case-control study

    Directory of Open Access Journals (Sweden)

    Barclay Murray L

    2009-03-01

    Full Text Available Abstract Background The nucleotide-binding oligomerization domain containing 1 (NOD1 gene encodes a pattern recognition receptor that senses pathogens, leading to downstream responses characteristic of innate immunity. We investigated the role of NOD1 single nucleotide polymorphisms (SNPs on IBD risk in a New Zealand Caucasian population, and studied Nod1 expression in response to bacterial invasion in the Caco2 cell line. Findings DNA samples from 388 Crohn's disease (CD, 405 ulcerative colitis (UC, 27 indeterminate colitis patients and 201 randomly selected controls, from Canterbury, New Zealand were screened for 3 common SNPs in NOD1, using the MassARRAY® iPLEX Gold assay. Transcriptional activation of the protein produced by NOD1 (Nod1 was studied after infection of Caco2 cells with Escherichia coli LF82. Carrying the rs2075818 G allele decreased the risk of CD (OR = 0.66, 95% CI = 0.50–0.88, p Conclusion The NOD1 gene is important in signalling invasion of colonic cells by pathogenic bacteria, indicative of its' key role in innate immunity. Carrying specific SNPs in this gene significantly modifies the risk of CD and/or UC in a New Zealand Caucasian population.

  9. Application of spinosad increases the susceptibility of insecticide-resistant Alphitobius diaperinus (Coleoptera: Tenebrionidae) to pyrethroids.

    Science.gov (United States)

    Lambkin, Trevor A; Furlong, Michael J

    2014-08-01

    The effect of spinosad exposure on the susceptibility of pyrethroid- and organophosphate-resistant populations of lesser mealworm, Alphitobius diaperinus (Panzer) (Coleoptera: Tenebrionidae), to insecticides was investigated in broiler house farm and laboratory studies. A field pyrethroid- and organophosphate-resistant population showed a 3.6-fold increase in susceptibility to gamma-cyhalothrin following spinosad treatment. Overall, cyfluthrin- and fenitrothion-resistant field populations were more susceptible to these insecticides following spinosad treatments, but populations that were not resistant showed no change in susceptibility following spinosad treatment. In a related study, three broiler farm beetle populations with very similar levels of cyfluthrin and gamma-cyhalothrin resistance and similar susceptibilities to spinosad were used to investigate temporal effects of spinosad field treatments on the susceptibility to pyrethroids. Farm insecticide regimes applied at the start of each flock differed: the control broiler house received no insecticide applications, another house was systematically treated with cyfluthrin at the start of each study flock, and the third house was systematically treated with spinosad at the start of five flocks. Afterwards, treatments reverted to cyfluthrin on all farms. At the end of flocks, beetles were tested with cyfluthrin, gamma-cyhalothrin, and spinosad. The control and cyfluthrin house beetles did not change susceptibility to pyrethroids over the period of the study. In the spinosad house, spinosad had no effect on spinosad susceptibility but dramatically increased cyfluthrin and gamma-cyhalothrin susceptibilities. These new susceptibilities were maintained while spinosad applications continued, but pyrethroid susceptibility declined once spinosad applications ceased. This study provides evidence of a synergistic interaction between spinosad and pyrethroids in pyrethroid-resistant beetles. This evidence has significant

  10. Blood Groups in Infection and Host Susceptibility

    Science.gov (United States)

    2015-01-01

    SUMMARY Blood group antigens represent polymorphic traits inherited among individuals and populations. At present, there are 34 recognized human blood groups and hundreds of individual blood group antigens and alleles. Differences in blood group antigen expression can increase or decrease host susceptibility to many infections. Blood groups can play a direct role in infection by serving as receptors and/or coreceptors for microorganisms, parasites, and viruses. In addition, many blood group antigens facilitate intracellular uptake, signal transduction, or adhesion through the organization of membrane microdomains. Several blood groups can modify the innate immune response to infection. Several distinct phenotypes associated with increased host resistance to malaria are overrepresented in populations living in areas where malaria is endemic, as a result of evolutionary pressures. Microorganisms can also stimulate antibodies against blood group antigens, including ABO, T, and Kell. Finally, there is a symbiotic relationship between blood group expression and maturation of the gastrointestinal microbiome. PMID:26085552

  11. Blood Groups in Infection and Host Susceptibility.

    Science.gov (United States)

    Cooling, Laura

    2015-07-01

    Blood group antigens represent polymorphic traits inherited among individuals and populations. At present, there are 34 recognized human blood groups and hundreds of individual blood group antigens and alleles. Differences in blood group antigen expression can increase or decrease host susceptibility to many infections. Blood groups can play a direct role in infection by serving as receptors and/or coreceptors for microorganisms, parasites, and viruses. In addition, many blood group antigens facilitate intracellular uptake, signal transduction, or adhesion through the organization of membrane microdomains. Several blood groups can modify the innate immune response to infection. Several distinct phenotypes associated with increased host resistance to malaria are overrepresented in populations living in areas where malaria is endemic, as a result of evolutionary pressures. Microorganisms can also stimulate antibodies against blood group antigens, including ABO, T, and Kell. Finally, there is a symbiotic relationship between blood group expression and maturation of the gastrointestinal microbiome. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  12. Epidermodysplasia Verruciformis and Susceptibility to HPV

    Directory of Open Access Journals (Sweden)

    Tejas Patel

    2010-01-01

    Full Text Available Purpose of review: Epidermodysplasia verruciformis has been addressed in depth in the recent literature despite its rarity. The disease is characterized by a persistence in human papillomavirus infections and development of cutaneous malignancies, usually happening more frequently and at a younger age than in the general population. Because of the role of immunodeficiency to viral antigens eventually leading to cancer, EV has become a model for understanding a viral role in cutaneous oncogenesis. Susceptibility loci for EV have been mapped and encoded protein functions are becoming better understood. Discoveries of novel mutations and further study of EV-associated HPV serotypes in lesional and nonlesional skin of affected patients and the general population may help generate a cohesive theory regarding the true role of a defective immune barrier in oncogenesis.

  13. Genetic Variants Associated with Colorectal Adenoma Susceptibility.

    Directory of Open Access Journals (Sweden)

    Anna Abulí

    Full Text Available Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk.To determine if these genetic variants are associated also with adenoma susceptibility and may improve selection of patients with increased risk for advanced adenomas and/or multiplicity (≥ 3 adenomas.We selected 1,326 patients with increased risk for advanced adenomas and/or multiplicity and 1,252 controls with normal colonoscopy from population-based colorectal cancer screening programs. We conducted a case-control association study analyzing 30 colorectal cancer susceptibility variants in order to investigate the contribution of these variants to the development of subsequent advanced neoplasia and/or multiplicity.We found that 14 of the analyzed genetic variants showed a statistically significant association with advanced adenomas and/or multiplicity: the probability of developing these lesions increased with the number of risk alleles reaching a 2.3-fold risk increment in individuals with ≥ 17 risk alleles.Nearly half of the genetic variants associated with colorectal cancer risk are also related to advanced adenoma and/or multiplicity predisposition. Assessing the number of risk alleles in individuals within colorectal cancer screening programs may help to identify better a subgroup with increased risk for advanced neoplasia and/or multiplicity in the general population.

  14. Serpens endocrania symmetrica (SES): a new term and a possible clue for identifying intrathoracic disease in skeletal populations.

    Science.gov (United States)

    Hershkovitz, Israel; Greenwald, Charles M; Latimer, Bruce; Jellema, Lyman M; Wish-Baratz, Susanne; Eshed, Vered; Dutour, Olivier; Rothschild, Bruce M

    2002-07-01

    This paper describes a phenomenon in the endocranial plate, which we have termed "serpens endocrania symmetrica" (SES), and discusses its value as a diagnostic tool. The affected discolored bone area exhibits disruption of the endocranial surface, lending it a maze-like appearance. Histological sections demonstrate that the process is limited to the most superficial portion of the endocranium, with no diploic and ectocranial involvement (sinus areas excepted). Adult skulls (n = 1,884) from the Hamann-Todd collection (HTH), housed at the Cleveland Museum of Natural History, were utilized for the present study. SES was recognized in 32 of the 1,884 skulls studied (1.7%). The frequency of SES among individuals reported to have died from tuberculosis (TB) was 4.4%. The rate of SES in the non-TB sample was only 0.53%. The locations were as follows: limited to sinus area, 28.1%; calvarium (excluding the sinuses), 46.9%; sinus + calvarium, 25.0%. SES was bilateral in 90.9% of cases. Twenty-five of the 32 individuals (78.1%) with SES in the HTH collection had tuberculosis specifically listed as the cause of death. Six of the other 7 individuals had infections other than TB. In 29 of the 32 individuals with SES, infection involved structures within the thorax. As SES was also associated with another osteological phenomenon known to represent pulmonary disease, i.e., hypertrophic osteoarthropathy (HOA; 68.0% of SES individuals also had HOA), SES may be of diagnostic value in paleopathology for the recognition of intrathoracic disease, and perhaps tuberculosis. Copyright 2002 Wiley-Liss, Inc.

  15. The infection biology of Sphaerulina musiva: clues to understanding a forest pathogen.

    Directory of Open Access Journals (Sweden)

    Ruqian Qin

    Full Text Available Trees in the genus Populus and their interspecific hybrids are used across North America for fiber production and as a potential source of biofuel. Plantations of these species are severely impacted by a fungal pathogen, Sphaerulina musiva, the cause of leaf spot and stem canker. An inoculation protocol that does not rely on stem wounding to achieve infection was recently developed. Using this protocol two experiments were conducted to examine infection biology and disease development in the S. musiva-Populus interaction. In the first experiment non-wounded stems of one moderately resistant clone (NM6 and one susceptible clone (NC11505 were inoculated and examined by scanning electron microscopy at six different times (6 h, 12 h, 24 h, 72 h, 1 week, and 3 weeks post-inoculation. The images indicate that the pathogen appears to enter host tissue through small openings and lenticels and that there are no significant differences in the penetration rate between the moderately resistant (NM6 and susceptible (NC11505 clones at 12 h post-inoculation. In a second experiment a histological comparison of stem cankers for resistant clone DN74 and susceptible clone NC11505 were conducted at three time points (3 weeks, 5 weeks, and 7 weeks post-inoculation. Distinct differences in disease development were apparent between the resistant and susceptible clones at each time point, with the susceptible clone exhibiting a weak and delayed defense response. These results suggest, that following penetration, the pathogen may be able to interfere with the defense response in the susceptible host.

  16. Xenopsylla cheopis (Siphonaptera: Pulicidae) Susceptibility to Deltamethrin in Madagascar

    Science.gov (United States)

    Elissa, Nohal

    2014-01-01

    The incidence of bubonic plague in Madagascar is high. This study reports the susceptibility of 32 different populations of a vector, the flea Xenopsylla cheopis (Siphonaptera: Pulicidae), to the insecticide Deltamethrin. Despite the use of Deltamethrin against fleas, plague epidemics have re-emerged in Madagascar. The majority of the study sites were located in the Malagasy highlands where most plague cases have occurred over the last 10 years. X. cheopis fleas were tested for susceptibility to Deltamethrin (0.05%): only two populations were susceptible to Deltamethrin, four populations were tolerant and 26 populations were resistant. KD50 (50% Knock-Down) and KD90 (90% Knock-Down) times were determined, and differed substantially from 9.4 to 592.4 minutes for KD50 and 10.4 min to 854.3 minutes for KD90. Susceptibility was correlated with latitude, but not with longitude, history of insecticide use nor date of sampling. Combined with the number of bubonic plague cases, our results suggest that an immediate switch to an insecticide other than Deltamethrin is required for plague vector control in Madagascar. PMID:25369291

  17. Xenopsylla cheopis (Siphonaptera: Pulicidae susceptibility to Deltamethrin in Madagascar.

    Directory of Open Access Journals (Sweden)

    Sebastien Boyer

    Full Text Available The incidence of bubonic plague in Madagascar is high. This study reports the susceptibility of 32 different populations of a vector, the flea Xenopsylla cheopis (Siphonaptera: Pulicidae, to the insecticide Deltamethrin. Despite the use of Deltamethrin against fleas, plague epidemics have re-emerged in Madagascar. The majority of the study sites were located in the Malagasy highlands where most plague cases have occurred over the last 10 years. X. cheopis fleas were tested for susceptibility to Deltamethrin (0.05%: only two populations were susceptible to Deltamethrin, four populations were tolerant and 26 populations were resistant. KD50 (50% Knock-Down and KD90 (90% Knock-Down times were determined, and differed substantially from 9.4 to 592.4 minutes for KD50 and 10.4 min to 854.3 minutes for KD90. Susceptibility was correlated with latitude, but not with longitude, history of insecticide use nor date of sampling. Combined with the number of bubonic plague cases, our results suggest that an immediate switch to an insecticide other than Deltamethrin is required for plague vector control in Madagascar.

  18. Antifungal susceptibility profiles and risk factors of vaginal ...

    African Journals Online (AJOL)

    Antifungal susceptibility results showed a high resistance to fluconazole (82.0%), nystatin (80.0%) and ketoconazole (72.0%), while clotrimazole (50.0%) was the most activeantifungal drug. There was a high prevalence of VC in this study population with previous vaginal infectionbeing important risk factor for reoccurrence.

  19. Gene susceptibility in Iranian asthmatic patients: a narrative review ...

    African Journals Online (AJOL)

    As environmental factors are important in the development of asthma, genetic factors could have a critical role in the expression of the disease. Hence, we carried out a systematic review to assess the susceptible genes for asthma in Iranian population. We conducted a literature search by using the electronic database ...

  20. Ethnic variations of a retinoblastoma susceptibility gene (RB1 ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 82; Issue 1-2. Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations. Priya Kadam-Pai Xin-Yi Su Jasmin Jiji Miranda Agustinus Soemantri Nilmani Saha Chew-Kiat Heng Poh-San Lai. Volume 82 Issue 1-2 April-August 2003 pp ...

  1. Exploration of genetic susceptibility factors for Parkinson's disease ...

    Indian Academy of Sciences (India)

    6Present address: Biomedical Science Research Group, School of Medicine, Universidad Antonio Nari˜no, Bogotá, Colombia. Introduction. The genetic susceptibility factors for Parkinson's disease. (PD) in non-European populations, including those from. Latin American countries, are unknown (Thomas and Beal. 2007).

  2. Association of Polymorphisms within the Serotonin Receptor Genes 5-HTR1A, 5-HTR1B, 5-HTR2A and 5-HTR2C and Migraine Susceptibility in a Turkish Population.

    Science.gov (United States)

    Yücel, Yavuz; Coşkun, Salih; Cengiz, Beyhan; Özdemir, Hasan H; Uzar, Ertuğrul; Çim, Abdullah; Camkurt, M Akif; Aluclu, M Ufuk

    2016-08-31

    Migraine, a highly prevelant headache disorder, is regarded as a polygenic multifactorial disease. Serotonin (5-HT) and their respective receptors have been implicated in the patogenesis. We investigated the 5-HT1A, 5-HT1B, 5-HT2A, and 5-HT2C receptor gene polymorphisms and their association with migraine in Turkish patients. The rs6295, rs1300060, rs1228814, rs6311, rs6313, rs6314, rs6318, rs3813929 (-759C/T) and rs518147 polymorphisms were analyzed in 135 patients with migraine and 139 healthy subjects, using a BioMark 96.96 dynamic array system. We found no difference in the frequency of the analyzed eight out of nine polymorpisms between migraine and control groups. However, a significant association was found between the rs3813929 polymorphism in the promoter region of 5-HTR2C gene and migraine. Also, the allele of rs3813929 was more common in the migraine group. This result suggests that the 5-HTR2C rs3813929 polymorphism can be a genetic risk factor for migraine in a Turkish population.

  3. Immunogenetics and genetic susceptibility in the pathogenesis of autoimmune hepatitis

    Directory of Open Access Journals (Sweden)

    Das Anup K

    2014-11-01

    Full Text Available vAutoimmune hepatitis is a progressive liver disease. Its pathogenesis is unclear, but needs a ‘trigger’ to initiate the disease in a genetically susceptible person. The susceptibility is partly related to MHCII class genes, and more so with human leukocyte antigen (HLA. Several mechanisms have been proposed which, however, cannot fully explain the immunologic findings in autoimmune hepatitis. The susceptibility to any autoimmune disease is determined by several factors where genetic and immunological alterations, along with, environmental factor are active. MHCII antigens as a marker for AIH, or a predictor of treatment response and prognosis has been investigated. Since MHCII antigens show significant ethnic heterogeneity, mutations in MHCII may merely act as only precursors of the surface markers of immune cells, which can be of significance, because the changes in HLA and MHC are missing in certain populations. One such marker is the CTLA-4 (CD152 gene mutation, reported in the phenotypes representing susceptibility to AIH. Other candidate genes of cytokines, TNF, TGF-beta1 etc, have also been investigated but with unvalidated results. Paediatric AIH show differences in genetic susceptibility. Genetic susceptibility or resistance to AIH may be associated with polypeptides in DRB1 with certain amino-acid sequences. Understanding which genes are implicated in genesis and/or disease progression will obviously help to identify key pathways in AIH and provide better insights into its pathogenesis. But studies to identify responsible genes are complex because of the complex trait of AIH.

  4. Cytoplasmic vacuoles: clue in the fine-needle aspiration diagnosis of melanoma.

    Science.gov (United States)

    Chen, Liansong; Raza, Anwar S; Simental, Raul G; Iverson, Kiva T; Cobb, Camilla J

    2014-02-01

    For the fine-needle aspiration (FNA) diagnosis of melanoma recognition of characteristic morphologic features is key. In our practice we noted that cytoplasmic vacuoles in Romanowsky-stained FNA smears of melanoma appeared to be a frequent finding. To investigate this premise, we examined 36 consecutive melanoma FNA cases that had both adequate Papanicolaou-stained and Romanowsky-stained smears in an effort to determine the prevalence, and thereby, the potential diagnostic utility of cytoplasmic vacuoles in the diagnosis of melanoma compared to established cytomorphologic parameters of melanoma. We found pigment in 21 cases (58%) and plasmacytoid cells in 28 cases (78%), and in all 36 cases (100%) we found bi/multinucleation, intranuclear cytoplasmic inclusions and prominent nucleoli. Cytoplasmic vacuoles were present in 30 cases (83%) and were found in air-dried Romanowsky-stained smears only. These findings suggest that in FNA smears of melanoma cytoplasmic vacuoles in Romanowsky-stained smears have prevalence and potential diagnostic utility that are comparable to widely recognized cytomorphologic features of melanoma. Numerous articles have focused on the cytomorphologic criteria for the FNA diagnosis of melanoma, but few have noted the presence of cytoplasmic vacuoles in FNA smears of melanoma, and rare reports suggest this finding to be a useful clue to the FNA diagnosis of melanoma. This report appears to be the first to focus on the prevalence and potential diagnostic utility of cytoplasmic vacuoles in FNA samples of melanoma. Copyright © 2013 Society of Plastics Engineers.

  5. Clues to LyC Escape from the Most Highly Ionized Green Peas

    Science.gov (United States)

    Jaskot, Anne; Oey, Sally; Scarlata, Claudia; Dowd, Tara

    2018-01-01

    The Green Pea galaxies include the strongest known Lyman continuum emitters at low redshift. As such, they offer important clues to the properties of the galaxies that reionized the universe. We present new HST COS spectra of 13 of the most highly ionized GPs at low redshift and identify LyC-leaker candidates based on strong, narrow Lyα line profiles and weak low-ionization absorption lines. On average, galaxies with more highly ionized gas tend to have narrower Lyα profiles, a sign of low HI column densities. Candidate LyC-emitting GPs also show strong LyC production and features indicative of young (< 3 Myr) ages. In contrast, outflows may not be important for LyC and Lyα escape in the GPs; the UV absorption lines of several LyC-leaker candidates reveal slow-moving gas. We suggest that in the GPs, radiative feedback, not supernova feedback, is likely the dominant mechanism that facilitates LyC escape.

  6. Transient tachypnea of the newborn: are there bedside clues for predicting the need of ventilation support?

    Science.gov (United States)

    Kahvecioğlu, Dilek; Çakır, Ufuk; Yıldız, Duran; Alan, Serdar; Erdeve, Ömer; Atasay, Begüm; Arsan, Saadet

    2016-01-01

    Decision making to transfer a late preterm or term neonate with the diagnosis of transient tachypnea of the newborn (TTN) to an intensive care unit for respiratory support is a challenge for caregivers in level one and two NICUs. The aim of this study was to identify "practical bedside clinical clues" that may help to predict the severity of disease and need for respiratory support in patients with the diagnosis of TTN. Newborns having the diagnosis of TTN were classified into two groups according to the intensity of the respiratory support. Infants receiving only supplemental oxygen and infants requiring nasal continuous positive airway pressure or mechanical ventilation constituted group 1 (mild) and group 2 (severe), respectively. Demographic, clinical and laboratory characteristics were compared between the two groups. Patients in group 2 had lower gestational age, higher Silverman and Richardson scores, longer mean duration of oxygen support and hospitalization. A positive correlation was found between subcostal and xiphoid retractions, asynchrony in chest-abdomen movements, arterial pH 2 / % inspired O 2 < 1.2 and need of respiratory support (p < 0.05). We suggest that simple scores can help physicians to get a good sense of a given baby's likelihood of deterioration.

  7. Physicochemical Profiles of the Marketed Agrochemicals and Clues for Agrochemical Lead Discovery and Screening Library Development.

    Science.gov (United States)

    Rao, Hanbing; Huangfu, Changxin; Wang, Yanying; Wang, Xianxiang; Tang, Tiansheng; Zeng, Xianyin; Li, Zerong; Chen, Yuzong

    2015-05-01

    Combinatorial chemistry, high-throughput and virtual screening technologies have been extensively used for discovering agrochemical leads from chemical libraries. The knowledge of the physicochemical properties of the marketed agrochemicals is useful for guiding the design and selection of such libraries. Since the earlier profiling of marketed agrochemicals, the number and types of marketed agrochemicals have significantly increased. Recent studies have shown the change of some physicochemical properties of oral drugs with time. There is a need to also profile the physicochemical properties of the marketed agrochemicals. In this work, we analyzed the key physicochemical properties of 1751 marketed agrochemicals in comparison with the previously-analyzed herbicides and insecticides, 106 391 natural products and 57 548 diverse synthetic libraries compounds. Our study revealed the distribution profiles and evolution trend of different types of agrochemicals that in many respects are broadly similar to the reported profiles for oral drugs, with the most marked difference being that agrochemicals have a lower number of hydrogen bond donors. The derived distribution patterns provided the rule of thumb guidelines for selecting potential agrochemical leads and also provided clues for further improving the libraries for agrochemical lead discovery. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  8. The mystery of the cerebellum: clues from experimental and clinical observations.

    Science.gov (United States)

    Lawrenson, Charlotte; Bares, Martin; Kamondi, Anita; Kovács, Andrea; Lumb, Bridget; Apps, Richard; Filip, Pavel; Manto, Mario

    2018-01-01

    The cerebellum has a striking homogeneous cytoarchitecture and participates in both motor and non-motor domains. Indeed, a wealth of evidence from neuroanatomical, electrophysiological, neuroimaging and clinical studies has substantially modified our traditional view on the cerebellum as a sole calibrator of sensorimotor functions. Despite the major advances of the last four decades of cerebellar research, outstanding questions remain regarding the mechanisms and functions of the cerebellar circuitry. We discuss major clues from both experimental and clinical studies, with a focus on rodent models in fear behaviour, on the role of the cerebellum in motor control, on cerebellar contributions to timing and our appraisal of the pathogenesis of cerebellar tremor. The cerebellum occupies a central position to optimize behaviour, motor control, timing procedures and to prevent body oscillations. More than ever, the cerebellum is now considered as a major actor on the scene of disorders affecting the CNS, extending from motor disorders to cognitive and affective disorders. However, the respective roles of the mossy fibres, the climbing fibres, cerebellar cortex and cerebellar nuclei remains unknown or partially known at best in most cases. Research is now moving towards a better definition of the roles of cerebellar modules and microzones. This will impact on the management of cerebellar disorders.

  9. What are the clinical implications of nodular gastritis? Clues from histopathology.

    Science.gov (United States)

    Sokmensuer, Cenk; Onal, Ibrahim Koral; Yeniova, Ozgur; Ersoy, Osman; Aydinli, Musa; Yonem, Ozlem; Harmanci, Ozgur; Onal, Eda Demir; Altinok, Gulcin; Batman, Figen; Bayraktar, Yusuf

    2009-10-01

    There is no widely accepted histopathological definition for nodular gastritis. In this study we aim to uncover the pathologic entity responsible for the nodular appearance and to find clues about the clinical implications of nodular gastritis. Antral biopsy specimens of 160 patients with nodular gastritis and 133 patients without nodular gastritis were examined by an experienced pathologist for dysplasia, foveolar hyperplasia, inflammatory activity, intraepithelial lymphocytosis, intestinal metaplasia, and lymphoid follicle/aggregate formation, and comparative analysis was performed between the two groups of patients. The presence of intraepithelial lymphocytosis was more frequent in patients with nodular gastritis (P < 0.05). There was no difference between the two groups regarding the other pathological features such as presence of dysplasia, inflammatory activity, intestinal metaplasia, lymphoid hyperplasia, and Helicobacter pylori (H. pylori) infection. Increase of intraepithelial lymphocytes may contribute to formation of macroscopical nodules in this peculiar type of gastritis. Nodular gastritis would not indicate a new therapeutic approach in addition to the current measures for Helicobacter pylori infection.

  10. Refractory chronic epilepsy associated with neuronal auto-antibodies: could perisylvian semiology be a clue?

    Science.gov (United States)

    Gillinder, Lisa; Tjoa, Linda; Mantzioris, Basil; Blum, Stefan; Dionisio, Sasha

    2017-12-01

    We report a case series of 10 patients with chronic medically refractory antibody-positive autoimmune epilepsy and assess their common clinical features. Immune-mediated seizures are most commonly reported in the context of encephalitis or encephalopathy, with few reports focusing on lone, chronic epilepsy in the outpatient setting. Our aim was to define the potential diagnostic clues that might be present in these cases, leading to consideration of an autoimmune cause of the epilepsy. We performed a retrospective review of all patients presenting to the outpatient department of our unit who underwent autoimmune screening. All patients with chronic epilepsy and a positive result for an antibody known to be associated with epilepsy were included. Sixty-three patients underwent testing. Thirteen returned a positive result, however, only 10 of these were patients which chronic epilepsy who did not present with an acute illness. Common features in these cases included: perisylvian semiology, EEG abnormalities in the mid temporal region, normal or non-specific MRI findings, depression, and head injury. In cases of medically refractory, lesion-negative epilepsy, with predominantly perisylvian semiology, clinicians should have a high level of suspicion for the diagnosis of autoimmune aetiologies and a low threshold to perform autoantibody screening. This is especially true if there are atypical electrographic findings, a previous history of head injury, or co-morbid depression.

  11. AGING AND SUSCEPTIBILITY TO TOLUENE IN RATS: A PHARMACOKINETIC, BIOMARKER, AND PHYSIOLOGICAL APPROACH.

    Science.gov (United States)

    Aging adults are a growing segment of the U.S. population and are likely to exhibit increased susceptibility to many environmental toxicants. However, there is little information on the susceptibility of the aged to toxicants. The toxicity of toluene has been well characterized i...

  12. Neisseria gonorrhoeae strain with reduced susceptibilities to extended-spectrum cephalosporins.

    Science.gov (United States)

    Nguyen, Duylinh; Gose, Severin; Castro, Lina; Chung, Kathleen; Bernstein, Kyle; Samuel, Micheal; Bauer, Heidi; Pandori, Mark

    2014-07-01

    The spread of Neisseria gonorrhoeae strains with reduced susceptibility to extended-spectrum cephalosporins is an increasing public health threat. Using Etest and multiantigen sequence typing, we detected sequence type 1407, which is associated with reduced susceptibilities to extended-spectrum cephalosporins, in 4 major populated regions in California, USA, in 2012.

  13. pitting corrosion susceptibility pitting corrosion susceptibility of aisi ...

    African Journals Online (AJOL)

    eobe

    The susceptibility of austenitic (AISI 301) stainless steel to pitting corrosion was evaluated in sodium chloride ... halides, the most aggressive and thus, the most frequently investigated is the chloride ions, particularly its effect on pit formation in 18/8 stainless steel [1 - 3]. ... in sea water), and moderately high temperatures.

  14. Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century

    Science.gov (United States)

    Response to environmental chemicals can vary widely among individuals and between population groups. In human health risk assessment, data on susceptibility can be utilized by deriving risk levels based on a study of a susceptible population and/or an uncertainty factor may be ap...

  15. Utility of the clue - From assessing the investigative contribution of forensic science to supporting the decision to use traces.

    Science.gov (United States)

    Bitzer, Sonja; Albertini, Nicola; Lock, Eric; Ribaux, Olivier; Delémont, Olivier

    2015-12-01

    In an attempt to grasp the effectiveness of forensic science in the criminal justice process, a number of studies introduced some form of performance indicator. However, most of these indicators suffer from different weaknesses, from the definition of forensic science itself to problems of reliability and validity. We suggest the introduction of the concept of utility of the clue as an internal evaluation indicator of forensic science in the investigation. Utility of the clue is defined as added value of information, gained by the use of traces. This concept could be used to assess the contribution of the trace in the context of the case. By extension, a second application of this concept is suggested. By formalising and considering, a priori, the perceived utility of using traces, we introduce the notion of expected utility that could be used as decision factor when choosing which traces to use, once they have been collected at the crime scene or from an object in the laboratory. In a case-based approach, utility can be assessed in the light of the available information to evaluate the investigative contribution of forensic science. In the decision-making process, the projection or estimation of the utility of the clue is proposed to be a factor to take into account when triaging the set of traces. Copyright © 2015 The Chartered Society of Forensic Sciences. Published by Elsevier Ireland Ltd. All rights reserved.

  16. Experimental studies on unsaturated zone surrounding rock using Characterizing Laboratory test on Unsaturated zonE (CLUE)

    International Nuclear Information System (INIS)

    Kikuchi, Hirohito; Suzuki, Hideaki; Sugita, Yutaka; Chijimatsu, Masakazu; Komatsu, Mitsuru; Nishigaki, Makoto

    2002-02-01

    In geological disposal of high-level radioactive waste (HLW), unsaturated zone will be developed around the disposal tunnel due to the construction of the tunnel. The development of the unsaturated zone would lead to the intrusion of the air into the surrounding rock and then oxygen would dissolve into ground water. Dissolved air affects the redox potential of the ground water and also oxidizes minerals existed in surrounding rock and changes their sorption capacity. These influences would change the geochemical conditions of the repository and affect the corrosion behavior of the overpack. Therefore, Characterizing Laboratory test on Unsaturated zonE (CLUE) was designed and assembled to understand the development process of the unsaturated zone. The CLUE is designed from the viewpoint of the hydraulic characteristics. CLUE has two test tanks. The test tank A uses glass beads to simulate rock mass, the test tank B uses rock block sample. Fundamental hydraulic data of the glass beads on saturation/unsaturation conditions for numerical analysis was obtained. Tests using the test tank A used the piezometer and frequency domain reflectometry (FDR) to measure the unsaturation behavior. From the results of the test tank A, the unsaturated zone was developed around the tunnel. The piezometer and FDR measured the distribution and the time history of the unsaturated zone well. In stable condition, measurement data was in good agreement with the analytical results. (author)

  17. India, Genomic diversity & Disease susceptibility

    Indian Academy of Sciences (India)

    Table of contents. India, Genomic diversity & Disease susceptibility · India, a paradise for Genetic Studies · Involved in earlier stages of Immune response protecting us from Diseases, Responsible for kidney and other transplant rejections Inherited from our parents · PowerPoint Presentation · Slide 5 · Slide 6 · Slide 7.

  18. Prion protein and scrapie susceptibility

    NARCIS (Netherlands)

    Smits, M.A.; Bossers, A.; Schreuder, B.E.C.

    1997-01-01

    This article presents briefly current views on the role of prion protein (PrP) in Transmissible Spongiform Encephalopathies or prion diseases and the effect of PrP polymoryhisms on the susceptibility to these diseases, with special emphasis on sheep scrapie. The PrP genotype of sheep apears to be a

  19. Continental Portuguese Territory Flood Social Susceptibility Index

    Science.gov (United States)

    Grosso, N.; Dias, L.; Costa, H. P.; Santos, F. D.; Garrett, P.

    2014-12-01

    The combination of human exposure, extreme weather events and lack of adaptation strategies to cope with flood related impacts can potentially increase losses not only on infrastructure but also on human lives. These impacts are usually difficult to quantify due to the lack of data and for this reason most of the studies developed at the national scale only include the main characteristics that define the societal or individual predisposition to be affected, resist, adapt or recover, when exposed to a flood. The main objective of this work was to develop a flood social susceptibility index for the continental Portuguese territory based on the most representative variables able to characterize different influencing factors. This index is part of the national vulnerability index developed in the scope of Flood Maps in Climate Change Scenarios (CIRAC) project, supported by the Portuguese Association of Insurers (APS). The main results showed that the proposed index correctly identified populations more socially susceptible to floods, mostly concentrated in rural inland areas with lower income and education levels, when compared with the coastal region between Viana do Castelo and Setúbal.

  20. Red Blood Cell Susceptibility to Pneumolysin

    Science.gov (United States)

    Bokori-Brown, Monika; Petrov, Peter G.; Khafaji, Mawya A.; Mughal, Muhammad K.; Naylor, Claire E.; Shore, Angela C.; Gooding, Kim M.; Casanova, Francesco; Mitchell, Tim J.; Titball, Richard W.; Winlove, C. Peter

    2016-01-01

    This study investigated the effect of the biochemical and biophysical properties of the plasma membrane as well as membrane morphology on the susceptibility of human red blood cells to the cholesterol-dependent cytolysin pneumolysin, a key virulence factor of Streptococcus pneumoniae, using single cell studies. We show a correlation between the physical properties of the membrane (bending rigidity and surface and dipole electrostatic potentials) and the susceptibility of red blood cells to pneumolysin-induced hemolysis. We demonstrate that biochemical modifications of the membrane induced by oxidative stress, lipid scrambling, and artificial cell aging modulate the cell response to the toxin. We provide evidence that the diversity of response to pneumolysin in diabetic red blood cells correlates with levels of glycated hemoglobin and that the mechanical properties of the red blood cell plasma membrane are altered in diabetes. Finally, we show that diabetic red blood cells are more resistant to pneumolysin and the related toxin perfringolysin O relative to healthy red blood cells. Taken together, these studies indicate that the diversity of cell response to pneumolysin within a population of human red blood cells is influenced by the biophysical and biochemical status of the plasma membrane and the chemical and/or oxidative stress pre-history of the cell. PMID:26984406

  1. A Novel Hypoxia Challenge Test Demonstrates Cardiovascular and Pulmonary Susceptibility to Acrolein Gas in Hypertensive Rats.

    Science.gov (United States)

    High levels of air pollution increase the risk of cardiovascular morbidity and mortality, especially in susceptible populations including those with hypertension. Stress tests are useful for manifesting latent effects of exposure, particularly at low concentrations, often when no...

  2. Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Notaridou, Maria; Quaye, Lydia; Dafou, Dimitra

    2011-01-01

    Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell-mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tumorogenicity in ovarian cancer cell lines...

  3. Novel sonographic clues for diagnosis of antral gastritis and Helicobacter pylori infection: a clinical study.

    Science.gov (United States)

    Cakmakci, Emin; Ucan, Berna; Colak, Bayram; Cinar, Hasibe Gokçe

    2014-09-01

    The purpose of this study was to find out whether transabdominal sonography may have a predictive role for detection of antral gastritis and Helicobacter pylori infection in the antrum. A total of 108 patients and 54 control participants were allocated into 3 groups: group 1, controls without any symptoms or findings of antral gastritis and H pylori infection; group 2, patients with symptoms and endoscopic findings consistent with gastritis in the absence of documented H pylori infection; and group 3, patients with symptoms and endoscopic findings consistent with gastritis and documented H pylori infection. These groups were compared in terms of demographics, antral wall thickness, mucosal layer (together with muscularis mucosa) thickness, and mucosal layer-to-antral wall thickness ratio. The groups had no statistically significant differences with respect to age, sex, body mass index, and smoking habits. However, it turned out that both antral walls and muscularis mucosa layers were thicker and the mucosal layer-to-antral wall thickness ratio was higher in groups 2 and 3 compared to group 1 (P > .001). In addition, group 3 had statistically significantly thicker antral walls and muscularis mucosa layers and a significantly increased mucosal layer-to-antral wall thickness ratio than group 2 (P gastritis caused by H pylori infection is associated with characteristic features such as thickening of antral walls and mucosal layers on sonography. These novel clues may be useful in the diagnosis of gastritis, and unnecessary interventions and measures can be avoided in some cases. © 2014 by the American Institute of Ultrasound in Medicine.

  4. The evolution of seabirds in the Humboldt Current: new clues from the Pliocene of Central Chile.

    Directory of Open Access Journals (Sweden)

    Martín Chávez Hoffmeister

    Full Text Available During the last decade, new Neogene fossil assemblages from South America have revealed important clues about the evolution of seabird faunas in one of the major upwelling systems of the world: the Humboldt Current. However, most of this record comes from arid Northern Chile and Southern Peru and, in consequence, our knowledge of the evolutionary history of seabirds in the temperate transitional zone is negligible. A new Late Pliocene assemblage of fossil birds from the coastal locality of Horcon in Central Chile offers a unique opportunity to fill this gap.Isolated bones of a medium-sized penguin are the most abundant bird remains. Morphological and cladistic analyses reveal that these specimens represent a new species of crested penguin, Eudyptes calauina sp. nov. Eudyptes is a penguin genus that inhabit temperate and subantarctic regions and currently absent in central Chile. Additionally, a partial skeleton of a small species of cormorant and a partial tarsometatarsus of a sooty shearwater have been identified.The Horcon fossils suggest the existence of a mixed avifauna in central Chile during the Pliocene in concordance with the latitudinal thermal gradient. This resembles the current assemblages from the transitional zone, with the presence of species shared with Northern Chile and Southern Peru and a previously unrecorded penguin currently absent from the Humboldt System but present in the Magellanic region. Comparison of Pliocene seabird diversity across the Pacific coast of South America shows that the Horcon avifauna represents a distinctive assemblage linking the living faunas with the Late Miocene ones. A comparison with the fossil record near the Benguela Current (west coast of southern Africa suggests that the thermic gradient could play an important role in the preservation of a higher diversity of cold/temperate seabirds in the Humboldt Current.

  5. The evolution of seabirds in the Humboldt Current: new clues from the Pliocene of Central Chile.

    Science.gov (United States)

    Chávez Hoffmeister, Martín; Carrillo Briceño, Jorge D; Nielsen, Sven N

    2014-01-01

    During the last decade, new Neogene fossil assemblages from South America have revealed important clues about the evolution of seabird faunas in one of the major upwelling systems of the world: the Humboldt Current. However, most of this record comes from arid Northern Chile and Southern Peru and, in consequence, our knowledge of the evolutionary history of seabirds in the temperate transitional zone is negligible. A new Late Pliocene assemblage of fossil birds from the coastal locality of Horcon in Central Chile offers a unique opportunity to fill this gap. Isolated bones of a medium-sized penguin are the most abundant bird remains. Morphological and cladistic analyses reveal that these specimens represent a new species of crested penguin, Eudyptes calauina sp. nov. Eudyptes is a penguin genus that inhabit temperate and subantarctic regions and currently absent in central Chile. Additionally, a partial skeleton of a small species of cormorant and a partial tarsometatarsus of a sooty shearwater have been identified. The Horcon fossils suggest the existence of a mixed avifauna in central Chile during the Pliocene in concordance with the latitudinal thermal gradient. This resembles the current assemblages from the transitional zone, with the presence of species shared with Northern Chile and Southern Peru and a previously unrecorded penguin currently absent from the Humboldt System but present in the Magellanic region. Comparison of Pliocene seabird diversity across the Pacific coast of South America shows that the Horcon avifauna represents a distinctive assemblage linking the living faunas with the Late Miocene ones. A comparison with the fossil record near the Benguela Current (west coast of southern Africa) suggests that the thermic gradient could play an important role in the preservation of a higher diversity of cold/temperate seabirds in the Humboldt Current.

  6. Dating thrust systems on Mercury: new clues on the thermal evolution of the planet

    Science.gov (United States)

    Giacomini, Lorenza; Massironi, Matteo; Ferrari, Sabrina; Zagato, Nicola

    2016-04-01

    The global tectonic scenario of Mercury is dominated by contractional features mainly represented by lobate scarps. These structures are the expression of surface-breaking thrust faults and are linear or arcuate features widely distributed on Mercury. Since they display a broad distribution of orientations, lobate scarps are thought to be related to a global contractional strain, associated to planetary cooling (Watters et al., 1998, Geology, 26, 991-994). The age determination of these features will contribute to better constrain whether limits could be placed on when the contraction occurred. For these reasons we dated two thrust systems, located in different regions of Mercury. The first system is located at the edge between Kuiper and Beethoven quadrangle (latitude 9°20'N-23°42'S and longitude 72°73'-59°52'W). These 1500-long thrust system is constituted by several lobate scarps with a NNE-SSW orientation. The second thrust system considered in this work is the Enterprise Rupes, a 820 km-long scarp system that cuts the Rembrandt basin. We dated the activity of these systems through the buffered crater counting technique, which is used to derive absolute model ages of linear landforms (e.g. Fassett and Head, 2008, Icarus, 198, 37-56; Giacomini, et al, 2015, GSL, 401, 291-311). The results gave comparable ages for the two systems and suggest that the activity along major rupes all around planet Mercury have most probably begun before 3.5 Ga. This will give us new clues to better understanding the thermal evolution of the planet.

  7. The importance of chemosensory clues in Aguaruna tree classification and identification.

    Science.gov (United States)

    Jernigan, Kevin A

    2008-05-03

    The ethnobotanical literature still contains few detailed descriptions of the sensory criteria people use for judging membership in taxonomic categories. Olfactory criteria in particular have been explored very little. This paper will describe the importance of odor for woody plant taxonomy and identification among the Aguaruna Jívaro of the northern Peruvian Amazon, focusing on the Aguaruna category númi (trees excluding palms). Aguaruna informants almost always place trees that they consider to have a similar odor together as kumpají - 'companions,' a metaphor they use to describe trees that they consider to be related. The research took place in several Aguaruna communities in the upper Marañón region of the Peruvian Amazon. Structured interview data focus on informant criteria for membership in various folk taxa of trees. Informants were also asked to explain what members of each group of related companions had in common. This paper focuses on odor and taste criteria that came to light during these structured interviews. Botanical voucher specimens were collected, wherever possible. Of the 182 tree folk genera recorded in this study, 51 (28%) were widely considered to possess a distinctive odor. Thirty nine of those (76%) were said to have odors similar to some other tree, while the other 24% had unique odors. Aguaruna informants very rarely described tree odors in non-botanical terms. Taste was used mostly to describe trees with edible fruits. Trees judged to be related were nearly always in the same botanical family. The results of this study illustrate that odor of bark, sap, flowers, fruit and leaves are important clues that help the Aguaruna to judge the relatedness of trees found in their local environment. In contrast, taste appears to play a more limited role. The results suggest a more general ethnobotanical hypothesis that could be tested in other cultural settings: people tend to consider plants with similar odors to be related, but say that

  8. Susceptible-infected-recovered and susceptible-exposed-infected models

    Energy Technology Data Exchange (ETDEWEB)

    Tome, Tania; De Oliveira, Mario J, E-mail: oliveira@if.usp.br [Instituto de Fisica, Universidade de Sao Paulo, Caixa Postal 66318, 05315-970 Sao Paulo, Sao Paulo (Brazil)

    2011-03-04

    Two stochastic epidemic lattice models, the susceptible-infected-recovered and the susceptible-exposed-infected models, are studied on a Cayley tree of coordination number k. The spreading of the disease in the former is found to occur when the infection probability b is larger than b{sub c} = k/2(k - 1). In the latter, which is equivalent to a dynamic site percolation model, the spreading occurs when the infection probability p is greater than p{sub c} = 1/(k - 1). We set up and solve the time evolution equations for both models and determine the final and time-dependent properties, including the epidemic curve. We show that the two models are closely related by revealing that their relevant properties are exactly mapped into each other when p = b/[k - (k - 1)b]. These include the cluster size distribution and the density of individuals of each type, quantities that have been determined in closed forms.

  9. Integrated assessment of the environmental, economic and social impacts of land use change using a GIS format – the CLUES model

    OpenAIRE

    Harris, Simon; Elliott, Sandy; McBride, Graham; Shankar, Ude; Quinn, John; Wheeler, David; Wedderburn, Liz; Hewitt, Allan; Gibb, Robert; Parfitt, Roger; Clothier, Brent; Green, Steve; Munguia, Oscar Montes de Oca; Dake, Chris K.G.; Rys, Gerald

    2009-01-01

    The CLUES model is an integrated catchment based model that designed to assist policy makers in understanding the implications of land use scenarios for water quality and a range of other indicators. CLUES integrates a number of existing models from several research providers, including SPARROW (catchment hydrology), OVERSEER and SPASMO (nutrient losses), ENSUS (nitrate leaching risk), and a socioeconomic model. These are combined in a GIS framework which allows scenarios of land use to be as...

  10. Topological susceptibility from the overlap

    DEFF Research Database (Denmark)

    Del Debbio, Luigi; Pica, Claudio

    2003-01-01

    The chiral symmetry at finite lattice spacing of Ginsparg-Wilson fermionic actions constrains the renormalization of the lattice operators; in particular, the topological susceptibility does not require any renormalization, when using a fermionic estimator to define the topological charge....... Therefore, the overlap formalism appears as an appealing candidate to study the continuum limit of the topological susceptibility while keeping the systematic errors under theoretical control. We present results for the SU(3) pure gauge theory using the index of the overlap Dirac operator to study...... the topology of the gauge configurations. The topological charge is obtained from the zero modes of the overlap and using a new algorithm for the spectral flow analysis. A detailed comparison with cooling techniques is presented. Particular care is taken in assessing the systematic errors. Relatively high...

  11. Reducing Susceptibility to Courtesy Stigma.

    Science.gov (United States)

    Bachleda, Catherine L; El Menzhi, Leila

    2018-06-01

    In light of the chronic shortage of health professionals willing to care for HIV/AIDS patients, and rising epidemics in many Muslim countries, this qualitative study examined susceptibility and resistance to courtesy stigma as experienced by nurses, doctors, and social workers in Morocco. Forty-nine in-depth interviews provided rich insights into the process of courtesy stigma and how it is managed, within the context of interactions with Islam, interactions within the workplace (patients, other health professionals), and interactions outside the workplace (the general public, friends, and family). Theoretically, the findings extend understanding of courtesy stigma and the dirty work literature. The findings also offer practical suggestions for the development of culturally appropriate strategies to reduce susceptibility to courtesy stigmatization. This study represents the first to explore courtesy stigma as a process experienced by health professionals providing HIV/AIDS care in an Islamic country.

  12. Transgenic mice susceptible to poliovirus.

    OpenAIRE

    Koike, S; Taya, C; Kurata, T; Abe, S; Ise, I; Yonekawa, H; Nomoto, A

    1991-01-01

    Poliovirus-sensitive transgenic mice were produced by introducing the human gene encoding cellular receptors for poliovirus into the mouse genome. Expression of the receptor mRNAs in tissues of the transgenic mice was analyzed by using RNA blot hybridization and the polymerase chain reaction. The human gene is expressed in many tissues of the transgenic mice just as in tissues of humans. The transgenic mice are susceptible to all three poliovirus serotypes, and the mice inoculated with poliov...

  13. Vector susceptibility to African trypanosomes.

    Science.gov (United States)

    Le Ray, D

    1989-01-01

    Susceptibility of tsetse fly to trypanosome depends on two distinct barriers controlling respectively colonization of midgut and, migration to salivary glands. Those barriers are modulated by barely known factors, pertaining to the physiological status of the fly as well as to cytoplasmic and nuclear inheritance. Quantification of colonization (p) and migration (m) rates provides a way to calculate intrinsic vectorial capacity (IVC) as a product IVC = p x m, and to undergo comparative analysis of underlying factors.

  14. Optimal control in a model of malaria with differential susceptibility

    Science.gov (United States)

    Hincapié, Doracelly; Ospina, Juan

    2014-06-01

    A malaria model with differential susceptibility is analyzed using the optimal control technique. In the model the human population is classified as susceptible, infected and recovered. Susceptibility is assumed dependent on genetic, physiological, or social characteristics that vary between individuals. The model is described by a system of differential equations that relate the human and vector populations, so that the infection is transmitted to humans by vectors, and the infection is transmitted to vectors by humans. The model considered is analyzed using the optimal control method when the control consists in using of insecticide-treated nets and educational campaigns; and the optimality criterion is to minimize the number of infected humans, while keeping the cost as low as is possible. One first goal is to determine the effects of differential susceptibility in the proposed control mechanism; and the second goal is to determine the algebraic form of the basic reproductive number of the model. All computations are performed using computer algebra, specifically Maple. It is claimed that the analytical results obtained are important for the design and implementation of control measures for malaria. It is suggested some future investigations such as the application of the method to other vector-borne diseases such as dengue or yellow fever; and also it is suggested the possible application of free software of computer algebra like Maxima.

  15. Antibiotic susceptibility of Atopobium vaginae

    Directory of Open Access Journals (Sweden)

    Verschraegen Gerda

    2006-03-01

    Full Text Available Abstract Background Previous studies have indicated that a recently described anaerobic bacterium, Atopobium vaginae is associated with bacterial vaginosis (BV. Thus far the four isolates of this fastidious micro-organism were found to be highly resistant to metronidazole and susceptible for clindamycin, two antibiotics preferred for the treatment of BV. Methods Nine strains of Atopobium vaginae, four strains of Gardnerella vaginalis, two strains of Lactobacillus iners and one strain each of Bifidobacterium breve, B. longum, L. crispatus, L. gasseri and L. jensenii were tested against 15 antimicrobial agents using the Etest. Results All nine strains of A. vaginae were highly resistant to nalidixic acid and colistin while being inhibited by low concentrations of clindamycin (range: G. vaginalis strains were also susceptible for clindamycin ( 256 μg/ml but susceptible to clindamycin (0.023 – 0.125 μg/ml. Conclusion Clindamycin has higher activity against G. vaginalis and A. vaginae than metronidazole, but not all A. vaginae isolates are metronidazole resistant, as seemed to be a straightforward conclusion from previous studies on a more limited number of strains.

  16. Defining susceptibility of broiler chicks to colibacillosis

    NARCIS (Netherlands)

    Ask, B.; Waaij, van der E.H.; Eck, van J.H.H.; Arendonk, van J.A.M.; Stegeman, J.A.

    2006-01-01

    This study aimed to define the susceptibility of broilers to colibacillosis through quantification of clinical responses and to examine the relationship between susceptibility and growth retardation. A challenge experiment was carried out twice. In each trial, 192 chicks were challenged

  17. Antimicrobial Susceptibility Patterns Of Salmonella Species In ...

    African Journals Online (AJOL)

    % susceptible to cefepime and carbapenem, 91% to azithromycin, 82.1% to cefixime and 73% to quinolones. Also susceptibility to chloramphenicol, erythromycin, streptomycin, ampicillin, gentamicin, co-trimoxazole, augmentin and amikacin ...

  18. New clues in celiac disease epidemiology, pathogenesis, clinical manifestations, and treatment.

    Science.gov (United States)

    Lionetti, Elena; Catassi, Carlo

    2011-08-01

    Celiac disease (CD) is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. It is one of the most common lifelong disorders on a worldwide basis. Celiac enteropathy is the final consequence of an abnormal immune reaction, showing features of both an innate and an adaptive response to gluten prolamins. The clinical spectrum is wide, including cases with either typical intestinal or atypical extraintestinal features, and silent forms. The only available treatment consists in dietary exclusion of grains containing gluten. New pharmacological treatment are currently under scrutiny.

  19. Susceptibility tensor imaging (STI) of the brain.

    Science.gov (United States)

    Li, Wei; Liu, Chunlei; Duong, Timothy Q; van Zijl, Peter C M; Li, Xu

    2017-04-01

    Susceptibility tensor imaging (STI) is a recently developed MRI technique that allows quantitative determination of orientation-independent magnetic susceptibility parameters from the dependence of gradient echo signal phase on the orientation of biological tissues with respect to the main magnetic field. By modeling the magnetic susceptibility of each voxel as a symmetric rank-2 tensor, individual magnetic susceptibility tensor elements as well as the mean magnetic susceptibility and magnetic susceptibility anisotropy can be determined for brain tissues that would still show orientation dependence after conventional scalar-based quantitative susceptibility mapping to remove such dependence. Similar to diffusion tensor imaging, STI allows mapping of brain white matter fiber orientations and reconstruction of 3D white matter pathways using the principal eigenvectors of the susceptibility tensor. In contrast to diffusion anisotropy, the main determinant factor of the susceptibility anisotropy in brain white matter is myelin. Another unique feature of the susceptibility anisotropy of white matter is its sensitivity to gadolinium-based contrast agents. Mechanistically, MRI-observed susceptibility anisotropy is mainly attributed to the highly ordered lipid molecules in the myelin sheath. STI provides a consistent interpretation of the dependence of phase and susceptibility on orientation at multiple scales. This article reviews the key experimental findings and physical theories that led to the development of STI, its practical implementations, and its applications for brain research. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  20. The importance of chemosensory clues in Aguaruna tree classification and identification

    Directory of Open Access Journals (Sweden)

    Jernigan Kevin A

    2008-05-01

    Full Text Available Abstract Background The ethnobotanical literature still contains few detailed descriptions of the sensory criteria people use for judging membership in taxonomic categories. Olfactory criteria in particular have been explored very little. This paper will describe the importance of odor for woody plant taxonomy and identification among the Aguaruna Jívaro of the northern Peruvian Amazon, focusing on the Aguaruna category númi (trees excluding palms. Aguaruna informants almost always place trees that they consider to have a similar odor together as kumpají – 'companions,' a metaphor they use to describe trees that they consider to be related. Methods The research took place in several Aguaruna communities in the upper Marañón region of the Peruvian Amazon. Structured interview data focus on informant criteria for membership in various folk taxa of trees. Informants were also asked to explain what members of each group of related companions had in common. This paper focuses on odor and taste criteria that came to light during these structured interviews. Botanical voucher specimens were collected, wherever possible. Results Of the 182 tree folk genera recorded in this study, 51 (28% were widely considered to possess a distinctive odor. Thirty nine of those (76% were said to have odors similar to some other tree, while the other 24% had unique odors. Aguaruna informants very rarely described tree odors in non-botanical terms. Taste was used mostly to describe trees with edible fruits. Trees judged to be related were nearly always in the same botanical family. Conclusion The results of this study illustrate that odor of bark, sap, flowers, fruit and leaves are important clues that help the Aguaruna to judge the relatedness of trees found in their local environment. In contrast, taste appears to play a more limited role. The results suggest a more general ethnobotanical hypothesis that could be tested in other cultural settings: people tend to

  1. Megacity Megaquakes: Two Near-misses, and the Clues they Leave for Earthquake Interaction

    Science.gov (United States)

    Stein, R. S.; Toda, S.

    2013-12-01

    Two recent earthquakes left their mark on cities lying well beyond the mainshock rupture zones, raising questions of their future vulnerability, and about earthquake interaction broadly. The 27 February 2010 M=8.8 Maule earthquake struck the Chilean coast, killing 550 people. Chile's capital of Santiago lies 400 km from the high-slip portion of the rupture, and 100 km beyond its edge. The 11 March 2011 M=9.0 Tohoku oki earthquake struck the coast of Japan, its massive tsunami claiming most of its 18,564 victims. Reminiscent of Santiago, Japan's capital of Tokyo lies 400 km from the high-slip portion of the rupture, and 100 km beyond its edge. Because of this distance, both cities largely escaped damage. But it may not have been a clean get-away: The rate of small shocks beneath each city jumped by a factor of about 10 immediately after its megaquake. At Santiago, the quake rate remains two times higher today than it was before the Maule shock; at Tokyo it is three times higher. What this higher rate of moderate (MPeru trench megathrust, whereas shocks beneath Tokyo illuminate a deeper, separate fault system. In both cases, the rate of shocks underwent an Omori decay, although the decay ceased beneath Tokyo about a year after the mainshock. Coulomb calculations suggest that the stress imparted by the nearby megaquakes brought the faults beneath Santiago and Tokyo closer to failure (Lorito et al, Nature Geoscience 2010; Toda and Stein, GRL 2013). So, they are aftershocks in the sense that they are contingent on the mainshock, and underwent at least an initial decay. But aftershocks do not necessarily signal a heightened likelihood of large shocks. They could instead accompany post-seismic creep, with the creep shedding the stress imposed by the megaquakes. These aftershocks are too deep for GPS observations to reveal unequivocally whether the faults are locked or creeping. But one clue is that the ratio of small to large shocks was not changed by the megaquakes. This

  2. Mimicked cartilage scaffolds of silk fibroin/hyaluronic acid with stem cells for osteoarthritis surgery: Morphological, mechanical, and physical clues

    International Nuclear Information System (INIS)

    Jaipaew, Jirayut; Wangkulangkul, Piyanun; Meesane, Jirut; Raungrut, Pritsana; Puttawibul, Puttisak

    2016-01-01

    Osteoarthritis is a critical disease that comes from degeneration of cartilage tissue. In severe cases surgery is generally required. Tissue engineering using scaffolds with stem cell transplantation is an attractive approach and a challenge for orthopedic surgery. For sample preparation, silk fibroin (SF)/hyaluronic acid (HA) scaffolds in different ratios of SF/HA (w/w) (i.e., 100:0, 90:10, 80:20, and 70:30) were formed by freeze-drying. The morphological, mechanical, and physical clues were considered in this research. The morphological structure of the scaffolds was observed by scanning electron microscope. The mechanical and physical properties of the scaffolds were analyzed by compressive and swelling ratio testing, respectively. For the cell experiments, scaffolds were seeded and cultured with human umbilical cord-derived mesenchymal stem cells (HUMSCs). The cultured scaffolds were tested for cell viability, histochemistry, immunohistochemistry, and gene expression. The SF with HA scaffolds showed regular porous structures. Those scaffolds had a soft and elastic characteristic with a high swelling ratio and water uptake. The SF/HA scaffolds showed a spheroid structure of the cells in the porous structure particularly in the SF80 and SF70 scaffolds. Cells could express Col2a, Agg, and Sox9 which are markers for chondrogenesis. It could be deduced that SF/HA scaffolds showed significant clues for suitability in cartilage tissue engineering and in surgery for osteoarthritis. - Highlights: • Silk fibroin/Hyaluronic acid was fabricated into mimicked scaffolds. • Mimicked scaffolds were incorporated with stem cells for chondrogenesis. • Mimicked scaffolds showed the clues for chondrogenic regulation. • Mimicked scaffolds had suitable performance for cartilage tissue engineering • Mimicked scaffolds showed promise for osteoarthritis surgery.

  3. Mimicked cartilage scaffolds of silk fibroin/hyaluronic acid with stem cells for osteoarthritis surgery: Morphological, mechanical, and physical clues

    Energy Technology Data Exchange (ETDEWEB)

    Jaipaew, Jirayut [Institute of Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Wangkulangkul, Piyanun [Institute of Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Department of Surgery, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Meesane, Jirut, E-mail: jirutmeesane999@yahoo.co.uk [Institute of Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Raungrut, Pritsana [Department of Biomedical Science, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Puttawibul, Puttisak [Institute of Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand); Department of Surgery, Faculty of Medicine, Prince of Songkla University, 15 Karnjanavanich Road, Hat Yai, Songkhla, Thailand 90110 (Thailand)

    2016-07-01

    Osteoarthritis is a critical disease that comes from degeneration of cartilage tissue. In severe cases surgery is generally required. Tissue engineering using scaffolds with stem cell transplantation is an attractive approach and a challenge for orthopedic surgery. For sample preparation, silk fibroin (SF)/hyaluronic acid (HA) scaffolds in different ratios of SF/HA (w/w) (i.e., 100:0, 90:10, 80:20, and 70:30) were formed by freeze-drying. The morphological, mechanical, and physical clues were considered in this research. The morphological structure of the scaffolds was observed by scanning electron microscope. The mechanical and physical properties of the scaffolds were analyzed by compressive and swelling ratio testing, respectively. For the cell experiments, scaffolds were seeded and cultured with human umbilical cord-derived mesenchymal stem cells (HUMSCs). The cultured scaffolds were tested for cell viability, histochemistry, immunohistochemistry, and gene expression. The SF with HA scaffolds showed regular porous structures. Those scaffolds had a soft and elastic characteristic with a high swelling ratio and water uptake. The SF/HA scaffolds showed a spheroid structure of the cells in the porous structure particularly in the SF80 and SF70 scaffolds. Cells could express Col2a, Agg, and Sox9 which are markers for chondrogenesis. It could be deduced that SF/HA scaffolds showed significant clues for suitability in cartilage tissue engineering and in surgery for osteoarthritis. - Highlights: • Silk fibroin/Hyaluronic acid was fabricated into mimicked scaffolds. • Mimicked scaffolds were incorporated with stem cells for chondrogenesis. • Mimicked scaffolds showed the clues for chondrogenic regulation. • Mimicked scaffolds had suitable performance for cartilage tissue engineering • Mimicked scaffolds showed promise for osteoarthritis surgery.

  4. Landslide Susceptibility Assessment Using Spatial Multi-Criteria Evaluation Model in Rwanda

    Directory of Open Access Journals (Sweden)

    Jean Baptiste Nsengiyumva

    2018-01-01

    Full Text Available Landslides susceptibility assessment has to be conducted to identify prone areas and guide risk management. Landslides in Rwanda are very deadly disasters. The current research aimed to conduct landslide susceptibility assessment by applying Spatial Multi-Criteria Evaluation Model with eight layers of causal factors including: slope, distance to roads, lithology, precipitation, soil texture, soil depth, altitude and land cover. In total, 980 past landslide locations were mapped. The relationship between landslide factors and inventory map was calculated using the Spatial Multi-Criteria Evaluation. The results revealed that susceptibility is spatially distributed countrywide with 42.3% of the region classified from moderate to very high susceptibility, and this is inhabited by 49.3% of the total population. In addition, Provinces with high to very high susceptibility are West, North and South (40.4%, 22.8% and 21.5%, respectively. Subsequently, the Eastern Province becomes the peak under low susceptibility category (87.8% with no very high susceptibility (0%. Based on these findings, the employed model produced accurate and reliable outcome in terms of susceptibility, since 49.5% of past landslides fell within the very high susceptibility category, which confirms the model’s performance. The outcomes of this study will be useful for future initiatives related to landslide risk reduction and management.

  5. Landslide Susceptibility Assessment Using Spatial Multi-Criteria Evaluation Model in Rwanda

    Science.gov (United States)

    Nsengiyumva, Jean Baptiste; Luo, Geping; Nahayo, Lamek; Huang, Xiaotao; Cai, Peng

    2018-01-01

    Landslides susceptibility assessment has to be conducted to identify prone areas and guide risk management. Landslides in Rwanda are very deadly disasters. The current research aimed to conduct landslide susceptibility assessment by applying Spatial Multi-Criteria Evaluation Model with eight layers of causal factors including: slope, distance to roads, lithology, precipitation, soil texture, soil depth, altitude and land cover. In total, 980 past landslide locations were mapped. The relationship between landslide factors and inventory map was calculated using the Spatial Multi-Criteria Evaluation. The results revealed that susceptibility is spatially distributed countrywide with 42.3% of the region classified from moderate to very high susceptibility, and this is inhabited by 49.3% of the total population. In addition, Provinces with high to very high susceptibility are West, North and South (40.4%, 22.8% and 21.5%, respectively). Subsequently, the Eastern Province becomes the peak under low susceptibility category (87.8%) with no very high susceptibility (0%). Based on these findings, the employed model produced accurate and reliable outcome in terms of susceptibility, since 49.5% of past landslides fell within the very high susceptibility category, which confirms the model’s performance. The outcomes of this study will be useful for future initiatives related to landslide risk reduction and management. PMID:29385096

  6. Magnetic susceptibility of functional groups

    International Nuclear Information System (INIS)

    Herr, T.; Ferraro, M.B.; Contreras, R.H.

    1990-01-01

    Proceeding with a series of works where new criteria are applied to the the calculation of the contribution of molecular fragments to certain properties, results are presented for a group of 1-X-benzenes and 1-X-naphtalenes for the magnetic susceptibility constant. Both the diamagnetic and paramagnetic parts are taken into account. To reduce the problems associated with the Gauge dependence originated in the approximations made, Gauge independent atomic orbitals (GIAO) orbitals are used in the atomic orbital basis. Results are discussed in terms of functional groups. (Author). 17 refs., 1 fig., 3 tabs

  7. Magnetic susceptibility of curium pnictides

    International Nuclear Information System (INIS)

    Nave, S.E.; Huray, P.G.; Peterson, J.R.; Damien, D.A.; Haire, R.G.

    1981-09-01

    The magnetic susceptibility of microgram quantities of 248 CmP and 248 CmSb has been determined with the use of a SQUID micromagnetic susceptometer over the temperature range 4.2 to 340 K and in the applied magnetic field range of 0.45 to 1600 G. The fcc (NaCl-type) samples yield magnetic transitions at 73K and 162 K for the phosphide and antimonide, respectively. Together with published magnetic data for CmN and CmAs, these results indicate spatially extended exchange interactions between the relatively localized 5f electrons of the metallic actinide atoms

  8. Susceptibility of Grapholita molesta to insecticides in Brazil

    Directory of Open Access Journals (Sweden)

    Oscar Arnaldo Batista Neto e Silva

    2017-12-01

    Full Text Available ABSTRACT: The use of insecticides has been the main tool for Grapholita molesta (Busck control in Brazil, which is considered one of the most important pests in apple and peach orchards. In order to implement an Insect Resistance Management (IRM program, studies were conducted to characterize the baseline susceptibility of G. molesta to major insecticides for its control. Then, we conducted an insecticide susceptibility monitoring in thirteen field-collected populations of the pest. Neonates (0-24h old were exposed to insecticides applied on surface of artificial diet. A high susceptibility was verified when neonates of the Laboratory population of G. molesta were exposed to insecticides with LC50 values (µg a.i./cm2 of 0.1 (spinetoram, 1.0 (metaflumizone, 1.2 (chlorantraniliprole, 4.8 (novaluron, 5.1 (tebufenozide, 11.3 (phosmet and 222.5 (pyriproxyfen. Based on the LC99 (µg a.i./cm2, the diagnostic concentrations of 0.6 (spinetoram, 5.5 (metaflumizone, 5.6 (chlorantraniliprole, 19.6 (tebufenozide, 37.4 (phosmet, 37.8 (novaluron and 2011 pyriproxyfen caused high mortality (>95% of neonates from field populations. These diagnostic concentrations will be used in resistance monitoring programs of G. molesta in Brazil.

  9. Risk Factor Analysis May Provide Clues to Diarrhea Prevention in Outdoor-Housed Rhesus Macaques (Macaca mulatta)

    Science.gov (United States)

    PRONGAY, KAMM; PARK, BYUNG; MURPHY, STEPHANIE J.

    2014-01-01

    Seventy-five percent of rhesus macaques at national primate research centers are housed outside. Annually, 15–39% of these animals experience diarrhea and require veterinary treatment for dehydration, electrolyte imbalance, or weight loss. An estimated 21–33% of these patients will die or be euthanized. Many studies have explored the various infectious etiologies of non-human primate diarrhea. However, there is little published information on diarrhea incidence rates and risk factors in outdoor-housed rhesus macaques. Without this information, it is challenging to determine endemic and epidemic diarrhea levels, or to develop and evaluate mitigation strategies. Using electronic medical records, we conducted a retrospective cohort study to calculate diarrhea incidence rates for rhesus macaques (N = 3,181) housed in three different outdoor housing types (corrals, shelters, and temporary housing) at the Oregon National Primate Research Center between November 1, 2009 and October 31, 2010. With multiple logistic regression analysis, we determined the relative risk of housing type, sex, and age on development of diarrhea. Diarrhea incidence and mortality in our population was lower than many published ranges. Type of outdoor housing, age, and previous diarrhea episode were positively correlated with diarrhea risk. Younger animals in smaller shelters and temporary housing had a greater risk of acquiring diarrhea, with juvenile animals (0.7–3.9 years) having the highest mortality rate. Sex was not a risk factor, but adult females with diarrhea were more likely to develop life-threatening complications than adult males. We also constructed a predictive model for diarrhea-associated mortality using Classification and Regression Tree. Findings from this study will be used to develop and evaluate mitigation strategies in our outdoor-housed population and to provide a foundation for genetic susceptibility and immune function testing. PMID:23568382

  10. Ceftriaxone susceptibility of oxacillin-susceptible Staphylococcus aureus from patients with prosthetic joint infection.

    Science.gov (United States)

    Greenwood-Quaintance, Kerryl E; Kohner, Peggy; Osmon, Douglas R; Virk, Abinash; Patel, Robin

    2015-06-01

    Ceftriaxone is used to treat oxacillin-susceptible S. aureus (OSSA) prosthetic joint infection (PJI). Susceptibility of ceftriaxone against OSSA has been questioned. Ceftriaxone susceptibility was determined against 100 PJI OSSA isolates. Ceftriaxone MIC90/MIC50 were 8/4 and 4/3μg/mL by broth microdilution and Etest, respectively. Ceftriaxone susceptibility is inferable by oxacillin susceptibility. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Susceptibilidade de populações de Simulium (Chirostilbia pertinax Kollar, 1832 (Culicomorpha, Simuliidae ao temephos e a um formulado à base de Bacillus thuringiensis var. israelensis Susceptibility of population of Simulium (Chirostilbia pertinax Kollar, 1832 (Culicomorpha, Simuliidae to temephos and Bacillus thuringiensis var. israelensis formulation

    Directory of Open Access Journals (Sweden)

    Carlos Fernando S. de Andrade

    1991-10-01

    Full Text Available O uso de pequenas calhas de madeira no leito de riachos, manualmente colonizadas com borrachudos, é proposto para avaliações da eficiência de larvicidas 3 ou 4 horas após as aplicações. A susceptibilidade larval também foi avaliada pelo critério de TL50. Em três ensaios no litoral do Estado de São Paulo e Rio de Janeiro, populações de Simulium (C. pertinax Kollar, 1832 mostraram-se resistentes ao temephos, mesmo em altas concentrações. Vectobac 12 AS, à base de Bacillus thuringiensis var. israelensis mostrou-se mais potente contra larvas dos últimos estádios e eficiente para controle em concentrações a partir de 7.200 UIP/1 (10 min.. O TL50para 3.744 UIP/1 (10 min. foi de 70,9 minutos.The use of wooden troughs on stream beds, artificially colonized by blackfly larvae, is proposed for larvicide evaluations. Mortality was recorded 3 or 4 hours after treatment. Larval susceptibility was also evaluated utilizing the LT50 criterion. In there field assays Simulium (C. pertinax populations from the litoral of S. Paulo and Rio de Janeiro States were shown to be resistant to temephos, even when subjected to high concentrations. Vectobac 12 AS, a Bacillus thuringiensis var. israelensis product, was shown to be more potent against late instar larvae and efficient in concentrations higher than 7,200 ITU/1 (10 min. The LT50 to 3,744 ITU/1 (10 min was calculated as 70.9 min.

  12. Clues to the Etiology of Bile Duct Injury in Biliary Atresia

    Science.gov (United States)

    Mack, Cara L.; Feldman, Amy G.; Sokol, Ronald J.

    2013-01-01

    Biliary atresia (BA) is an infantile obstructive cholangiopathy of unknown etiology with suboptimal therapy, which is responsible for 40 to 50% of all pediatric liver transplants. Although the etiology of bile duct injury in BA in unknown, it is postulated that a pre- or perinatal viral infection initiates cholangiocyte apoptosis and release of antigens that trigger a Th1 immune response that leads to further bile duct injury, inflammation, and obstructive fibrosis. Humoral immunity and activation of the innate immune system may also play key roles in this process. Moreover, recent investigations from the murine BA model and human data suggest that regulatory T cells and genetic susceptibility factors may orchestrate autoimmune mechanisms. What controls the coordination of these events, why the disease only occurs in the first few months of life, and why a minority of infants with perinatal viral infections develop BA are remaining questions to be answered. PMID:23397531

  13. Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility

    Science.gov (United States)

    Ye, Byong Duk; McGovern, Dermot P.B.

    2016-01-01

    Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD. PMID:27156530

  14. Can Halogen Enrichment in Reduced Enstatite Chondrites Provide Clues to Volatile Accretion in the Early Earth?

    Science.gov (United States)

    Clay, P. L.; Burgess, R.; Busemann, H.; Ruzié, L.; Joachim, B.; Ballentine, C.

    2013-12-01

    Understanding how the Earth obtained and ultimately retained its volatiles is important for our overall understanding of large scale planetary evolution. Numerous models exist for the heterogeneous accretion of volatiles to early Earth, but accounting for all elements through accretion of typical planetary building blocks (e.g., CI chondrites) is difficult. Proto-planetary collisions resulting in the accretion of volatile-poor material under reducing conditions followed by accretion of volatile-rich material under oxidizing conditions has been suggested in such models [e.g., 1]. The heavy halogens (Cl, Br and I), a group of moderately volatile elements, are excellent tracers of planetary processing due to their low abundance and incompatible nature. Therefore characterizing halogen abundance and distribution in materials that accreted to form the planets, e.g., primitive meteorites, is crucial. One group of primitive meteorites, the enstatite chondrites (EC's), are amongst the most reduced materials in the solar system as evidenced by their unique mineral assemblage. Yet despite forming under ultra-reducing conditions, they are enriched in the moderately volatile elements, such as the halogens. The ECs are of particular interest owing to their oxygen isotopic composition which plots along the terrestrial fractionation line, linking them isotopically to the Earth-Moon system. These samples can thus potentially provide clues on the accretion of moderately volatile element rich material under reducing conditions, such as it may have existed during the early stages of Earth's accretion. Chlorine, Br and I concentrations in ECs were determined through step-heating small neutron-irradiated samples (0.3 to 3.3 mg) and measured by mass spectrometry using the noble gas proxy isotopes 38ArCl/Cl, 80KrBr/Br and 128XeI/I. The EH chondrites are consistently enriched in the heavy halogens (up to 330 ppm Cl, 2290 ppb Br and 180 ppb I), compared to other ordinary and carbonaceous

  15. Mimicked cartilage scaffolds of silk fibroin/hyaluronic acid with stem cells for osteoarthritis surgery: Morphological, mechanical, and physical clues.

    Science.gov (United States)

    Jaipaew, Jirayut; Wangkulangkul, Piyanun; Meesane, Jirut; Raungrut, Pritsana; Puttawibul, Puttisak

    2016-07-01

    Osteoarthritis is a critical disease that comes from degeneration of cartilage tissue. In severe cases surgery is generally required. Tissue engineering using scaffolds with stem cell transplantation is an attractive approach and a challenge for orthopedic surgery. For sample preparation, silk fibroin (SF)/hyaluronic acid (HA) scaffolds in different ratios of SF/HA (w/w) (i.e., 100:0, 90:10, 80:20, and 70:30) were formed by freeze-drying. The morphological, mechanical, and physical clues were considered in this research. The morphological structure of the scaffolds was observed by scanning electron microscope. The mechanical and physical properties of the scaffolds were analyzed by compressive and swelling ratio testing, respectively. For the cell experiments, scaffolds were seeded and cultured with human umbilical cord-derived mesenchymal stem cells (HUMSCs). The cultured scaffolds were tested for cell viability, histochemistry, immunohistochemistry, and gene expression. The SF with HA scaffolds showed regular porous structures. Those scaffolds had a soft and elastic characteristic with a high swelling ratio and water uptake. The SF/HA scaffolds showed a spheroid structure of the cells in the porous structure particularly in the SF80 and SF70 scaffolds. Cells could express Col2a, Agg, and Sox9 which are markers for chondrogenesis. It could be deduced that SF/HA scaffolds showed significant clues for suitability in cartilage tissue engineering and in surgery for osteoarthritis. Copyright © 2016 Elsevier B.V. All rights reserved.

  16. A Coupled SD and CLUE-S Model for Exploring the Impact of Land Use Change on Ecosystem Service Value: A Case Study in Baoshan District, Shanghai, China

    Science.gov (United States)

    Wu, Meng; Ren, Xiangyu; Che, Yue; Yang, Kai

    2015-08-01

    Most of the cities in developing countries are experiencing rapid urbanization. Land use change driven by urban sprawl, population growth, and intensified socio-economic activities have led to a steep decline of ecosystem service value (ESV) in rapid urbanization areas, and decision-makers often ignore some valuable ecosystem service functions and values in land use planning. In this paper, we attempt to build a modeling framework which integrated System Dynamics model with Conversion of Land Use and its Effects at Small Extent model to simulate the dynamics of ESV of landscape and explore the potential impacts of land use change on ESV. We take Baoshan district of Shanghai as an example which is a fast urbanization area of metropolitan in China. The results of the study indicate that: (1) The integrated methodology can improve the characterization and presentation of the dynamics of ESV, which may give insight into understanding the possible impacts of land use change on ESV and provide information for land use planning. (2) Land use polices can affect the magnitude and location of ESV both directly and indirectly. Land use changes tend to weaken and simplify ecosystem service functions and values of landscape at urban rural fringe where land use change is more intensive. (3) The application of the methodology has proved that the integration of currently existing models within a single modeling framework could be a beneficial exploration, and should be encouraged and enhanced in the future research on the changing dynamics of ESV due to the complexity of ecosystem services and land use system.

  17. Patient Susceptibility to Candidiasis—A Potential for Adjunctive Immunotherapy

    Science.gov (United States)

    Davidson, Linda; Netea, Mihai G.; Kullberg, Bart Jan

    2018-01-01

    Candida spp. are colonizing fungi of human skin and mucosae of the gastrointestinal and genitourinary tract, present in 30–50% of healthy individuals in a population at any given moment. The host defense mechanisms prevent this commensal fungus from invading and causing disease. Loss of skin or mucosal barrier function, microbiome imbalances, or defects of immune defense mechanisms can lead to an increased susceptibility to severe mucocutaneous or invasive candidiasis. A comprehensive understanding of the immune defense against Candida is essential for developing adjunctive immunotherapy. The important role of underlying genetic susceptibility to Candida infections has become apparent over the years. In most patients, the cause of increased susceptibility to fungal infections is complex, based on a combination of immune regulation gene polymorphisms together with other non-genetic predisposing factors. Identification of patients with an underlying genetic predisposition could help determine which patients could benefit from prophylactic antifungal treatment or adjunctive immunotherapy. This review will provide an overview of patient susceptibility to mucocutaneous and invasive candidiasis and the potential for adjunctive immunotherapy. PMID:29371502

  18. Patient Susceptibility to Candidiasis—A Potential for Adjunctive Immunotherapy

    Directory of Open Access Journals (Sweden)

    Linda Davidson

    2018-01-01

    Full Text Available Candida spp. are colonizing fungi of human skin and mucosae of the gastrointestinal and genitourinary tract, present in 30–50% of healthy individuals in a population at any given moment. The host defense mechanisms prevent this commensal fungus from invading and causing disease. Loss of skin or mucosal barrier function, microbiome imbalances, or defects of immune defense mechanisms can lead to an increased susceptibility to severe mucocutaneous or invasive candidiasis. A comprehensive understanding of the immune defense against Candida is essential for developing adjunctive immunotherapy. The important role of underlying genetic susceptibility to Candida infections has become apparent over the years. In most patients, the cause of increased susceptibility to fungal infections is complex, based on a combination of immune regulation gene polymorphisms together with other non-genetic predisposing factors. Identification of patients with an underlying genetic predisposition could help determine which patients could benefit from prophylactic antifungal treatment or adjunctive immunotherapy. This review will provide an overview of patient susceptibility to mucocutaneous and invasive candidiasis and the potential for adjunctive immunotherapy.

  19. Diabetes mellitus increases the susceptibility to encephalitozoonosis in mice

    Science.gov (United States)

    Francisco Neto, Aldo; Spadacci-Morena, Diva Denelle

    2017-01-01

    Microsporidiosis are diseases caused by opportunistic intracellular fungi in immunosuppressed individuals, as well as in transplanted patients, the elderly and children, among others. Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and decreased T cell response, neutrophil function, humoral immunity failure, increasing the susceptibility to infections. Here, we investigated the susceptibility of streptozotocin (STZ)-induced type I diabetic and/or immunosuppressed mice to encephalitozoonosis by Encephalitozoon cuniculi. Microscopically, granulomatous hepatitis, interstitial pneumonia and pielonephritis were observed in all infected groups. STZ treatment induced an immunossupressor effect in the populations of B (B-1 and B2) and CD4+ T lymphocytes. Moreover, infection decreased CD4+ and CD8+ T lymphocytes and macrophages of DM mice. Furthermore, infection induced a significant increase of IL-6 and TNF-α cytokine serum levels in DM mice. IFN-γ, the most important cytokine for the resolution of encephalitozoonosis, increased only in infected mice. In addition to the decreased immune response, DM mice were more susceptible to encephalitozoonosis, associated with increased fungal burden, and symptoms. Additionally, cyclophosphamide immunosuppression in DM mice further increased the susceptibility to encephalitozoonosis. Thus, microsporidiosis should be considered in the differential diagnosis of comorbidities in diabetics. PMID:29091912

  20. Gene susceptibility in Iranian asthmatic patients: a narrative review.

    Science.gov (United States)

    Alizadeh-Navaei, R; Rafiei, A; Hedayatizadeh-Omran, A; Mohammadzadeh, I; Arabi, M

    2014-11-01

    As environmental factors are important in the development of asthma, genetic factors could have a critical role in the expression of the disease. Hence, we carried out a systematic review to assess the susceptible genes for asthma in Iranian population. We conducted a literature search by using the electronic database PubMed, Biological Abstracts Web of Science, Current Contents Connect, Cinahl, ScienceDirect, Scopus, IranMedex, and Scientific Information Database to identify articles that evaluated the association between genetic variants and the risk of asthma in Iranian population (until April 30, 2012). The search terms were used include: Asthma and gene in combination with Iran for international database. The following criteria were used for selecting literatures in this review: The study should evaluate the association between gene polymorphism and risk of asthma in Iranian population, and the study should be a case-control design with normal subject as ac control group that published in a journal. Finally, 14 case-control studies were extracted from local and international database. In this study, we reviewed 38 polymorphisms in 19 genes. Polymorphism in interleukin-13 (IL-13), IL-10, IL-1, IL-2, IL-12, E-Selectin, S128R and Exon 9 Vitamin D Receptor were susceptible for asthma and polymorphism in chemokine receptor 5, transforming growth factor-a (TGF-a), Intron 8 of the Vitamin D Receptor, angiotensin-converting enzyme gene, IL-6 and interferon-c were not susceptible for asthma in Iranian population. Polymorphism in IL-4, tumor necrosis factor-α and TGF-b had inconsistent findings. This systematic review indicated that three polymorphisms (IL-13, IL-10, and IL-1) are associated with risk of asthma in Iranian population.

  1. Cardiovascular Disease as a Risk Factor for Enhanced Susceptibility to Air Pollutants

    Science.gov (United States)

    Adverse health effects caused by airborne particular matter (PM) are restricted primarily to susceptible populations. The actual risk of anyone individual is quite small, but because of the large number of exposed people, the overall population risk is significant. Ferreting out ...

  2. Genetics of canine diabetes mellitus: are the diabetes susceptibility genes identified in humans involved in breed susceptibility to diabetes mellitus in dogs?

    Science.gov (United States)

    Catchpole, Brian; Adams, Jamie P; Holder, Angela L; Short, Andrea D; Ollier, William E R; Kennedy, Lorna J

    2013-02-01

    Diabetes mellitus is a common endocrinopathy in companion animals, characterised by hyperglycaemia, glycosuria and weight loss, resulting from an absolute or relative deficiency in the pancreatic hormone insulin. There are breed differences in susceptibility to diabetes mellitus in dogs, with the Samoyed breed being overrepresented, while Boxers are relatively absent in the UK population of diabetic dogs, suggesting that genetic factors play an important role in determining susceptibility to the disease. A number of genes, linked with susceptibility to diabetes mellitus in humans, are associated with an increased risk of diabetes mellitus in dogs, some of which appear to be relatively breed-specific. Diabetes mellitus in dogs has been associated with major histocompatibility complex (MHC) class II genes (dog leucocyte antigen; DLA), with similar haplotypes and genotypes being identified in the most susceptible breeds. A region containing a variable number of tandem repeats (VNTR) and several polymorphisms have been identified in the canine insulin gene, with some alleles associated with susceptibility or resistance to diabetes mellitus in a breed-specific manner. Polymorphisms in the canine CTLA4 promoter and in other immune response genes are associated with susceptibility to diabetes mellitus in a number of pedigree breeds. Genome wide association studies are currently underway that should shed further light on the genetic factors responsible for the breed profile seen in the diabetic dog population. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. Genetic susceptibility to environmental toxicants

    DEFF Research Database (Denmark)

    2001-01-01

    of their meaning. A potential for inadvertently raising concerns over the effect of chemicals in experimental animals or man, or even the intentional misrepresentation of results to suggest chemicals are “playing” with our genes is enormous. History has shown that some individuals and groups in society are willing......The toxicological challenges to the chemical industry have in recent years been greatly affected by the rapid innovation and development of analytical, molecular and genetic technologies. ECETOC recognises the importance of developing the technical and intellectual skill bases in academia...... and industrial based laboratories to meet the rapid development of the science base of toxicology. As the technology to determine genetic susceptibility develops, so scientist will be able to describe altered gene expression provoked by chemicals long before they are able to offer valid interpretations...

  4. Air pollution increases forest susceptibility to wildfires: a case study for the San Bernardino Mountains in southern California

    Science.gov (United States)

    N.E. Grulke; R.A. Minnich; T. Paine; P. Riggan

    2010-01-01

    Many factors increase susceptibility of forests to wildfire. Among them are increases in human population, changes in land use, fire suppression, and frequent droughts. These factors have been exacerbating forest susceptibility to wildfires over the last century in southern California. Here we report on the significant role that air pollution has on increasing forest...

  5. GRAPHICAL USER INTERFACE WITH APPLICATIONS IN SUSCEPTIBLE-INFECTIOUS-SUSCEPTIBLE MODELS.

    Science.gov (United States)

    Ilea, M; Turnea, M; Arotăriţei, D; Rotariu, Mariana; Popescu, Marilena

    2015-01-01

    Practical significance of understanding the dynamics and evolution of infectious diseases increases continuously in contemporary world. The mathematical study of the dynamics of infectious diseases has a long history. By incorporating statistical methods and computer-based simulations in dynamic epidemiological models, it could be possible for modeling methods and theoretical analyses to be more realistic and reliable, allowing a more detailed understanding of the rules governing epidemic spreading. To provide the basis for a disease transmission, the population of a region is often divided into various compartments, and the model governing their relation is called the compartmental model. To present all of the information available, a graphical user interface provides icons and visual indicators. The graphical interface shown in this paper is performed using the MATLAB software ver. 7.6.0. MATLAB software offers a wide range of techniques by which data can be displayed graphically. The process of data viewing involves a series of operations. To achieve it, I had to make three separate files, one for defining the mathematical model and two for the interface itself. Considering a fixed population, it is observed that the number of susceptible individuals diminishes along with an increase in the number of infectious individuals so that in about ten days the number of individuals infected and susceptible, respectively, has the same value. If the epidemic is not controlled, it will continue for an indefinite period of time. By changing the global parameters specific of the SIS model, a more rapid increase of infectious individuals is noted. Using the graphical user interface shown in this paper helps achieving a much easier interaction with the computer, simplifying the structure of complex instructions by using icons and menus, and, in particular, programs and files are much easier to organize. Some numerical simulations have been presented to illustrate theoretical

  6. Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion.

    Directory of Open Access Journals (Sweden)

    J Hunter Young

    2005-12-01

    Full Text Available Hypertension is a leading cause of stroke, heart disease, and kidney failure. The genetic basis of blood pressure variation is largely unknown but is likely to involve genes that influence renal salt handling and arterial vessel tone. Here we argue that susceptibility to hypertension is ancestral and that differential susceptibility to hypertension is due to differential exposure to selection pressures during the out-of-Africa expansion. The most important selection pressure was climate, which produced a latitudinal cline in heat adaptation and, therefore, hypertension susceptibility. Consistent with this hypothesis, we show that ecological variables, such as latitude, temperature, and rainfall, explain worldwide variation in heat adaptation as defined by seven functional alleles in five genes involved in blood pressure regulation. The latitudinal cline in heat adaptation is consistent worldwide and is largely unmatched by latitudinal clines in short tandem repeat markers, control single nucleotide polymorphisms, or non-functional single nucleotide polymorphisms within the five genes. In addition, we show that latitude and one of these alleles, GNB3 (G protein beta3 subunit 825T, account for a major portion of worldwide variation in blood pressure. These results suggest that the current epidemic of hypertension is due to exposures of the modern period interacting with ancestral susceptibility. Modern populations differ in susceptibility to these new exposures, however, such that those from hot environments are more susceptible to hypertension than populations from cold environments. This differential susceptibility is likely due to our history of adaptation to climate.

  7. Chemokines and chemokine receptors in susceptibility to HIV-1 infection and progression to AIDS.

    Science.gov (United States)

    Chatterjee, Animesh; Rathore, Anurag; Vidyant, Sanjukta; Kakkar, Kavita; Dhole, Tapan N

    2012-01-01

    A multitude of host genetic factors plays a crucial role in susceptibility to HIV-1 infection and progression to AIDS, which is highly variable among individuals and populations. This review focuses on the chemokine-receptor and chemokine genes, which were extensively studied because of their role as HIV co-receptor or co-receptor competitor and influences the susceptibility to HIV-1 infection and progression to AIDS in HIV-1 infected individuals.

  8. Experimental investigation of the susceptibility of Italian Culex pipiens mosquitoes to Zika virus infection

    Science.gov (United States)

    Boccolini, Daniela; Toma, Luciano; Di Luca, Marco; Severini, Francesco; Romi, R; Remoli, Maria Elena; Sabbatucci, Michela; Venturi, Giulietta; Rezza, Giovanni; Fortuna, Claudia

    2016-01-01

    We investigated the susceptibility of an Italian population of Culex pipiens mosquitoes to Zika virus (ZIKV) infection, tested in parallel with Aedes aegypti, as a positive control. We analysed mosquitoes at 0, 3, 7, 10, 14, 20 and 24 days after an infectious blood meal. Viral RNA was detected in the body of Cx. pipiens up to three days post-infection, but not at later time points. Our results indicate that Cx. pipiens is not susceptible to ZIKV infection. PMID:27605056

  9. Accuracy of magnetic resonance based susceptibility measurements

    Science.gov (United States)

    Erdevig, Hannah E.; Russek, Stephen E.; Carnicka, Slavka; Stupic, Karl F.; Keenan, Kathryn E.

    2017-05-01

    Magnetic Resonance Imaging (MRI) is increasingly used to map the magnetic susceptibility of tissue to identify cerebral microbleeds associated with traumatic brain injury and pathological iron deposits associated with neurodegenerative diseases such as Parkinson's and Alzheimer's disease. Accurate measurements of susceptibility are important for determining oxygen and iron content in blood vessels and brain tissue for use in noninvasive clinical diagnosis and treatment assessments. Induced magnetic fields with amplitude on the order of 100 nT, can be detected using MRI phase images. The induced field distributions can then be inverted to obtain quantitative susceptibility maps. The focus of this research was to determine the accuracy of MRI-based susceptibility measurements using simple phantom geometries and to compare the susceptibility measurements with magnetometry measurements where SI-traceable standards are available. The susceptibilities of paramagnetic salt solutions in cylindrical containers were measured as a function of orientation relative to the static MRI field. The observed induced fields as a function of orientation of the cylinder were in good agreement with simple models. The MRI susceptibility measurements were compared with SQUID magnetometry using NIST-traceable standards. MRI can accurately measure relative magnetic susceptibilities while SQUID magnetometry measures absolute magnetic susceptibility. Given the accuracy of moment measurements of tissue mimicking samples, and the need to look at small differences in tissue properties, the use of existing NIST standard reference materials to calibrate MRI reference structures is problematic and better reference materials are required.

  10. Proteomic and genomic studies of non-alcoholic fatty liver disease - clues in the pathogenesis

    Science.gov (United States)

    Lim, Jun Wei; Dillon, John; Miller, Michael

    2014-01-01

    Non-alcoholic fatty liver disease (NAFLD) is a widely prevalent hepatic disorder that covers wide spectrum of liver pathology. NAFLD is strongly associated with liver inflammation, metabolic hyperlipidaemia and insulin resistance. Frequently, NAFLD has been considered as the hepatic manifestation of metabolic syndrome. The pathophysiology of NAFLD has not been fully elucidated. Some patients can remain in the stage of simple steatosis, which generally is a benign condition; whereas others can develop liver inflammation and progress into non-alcoholic steatohepatitis, fibrosis, cirrhosis and hepatocellular carcinoma. The mechanism behind the progression is still not fully understood. Much ongoing proteomic researches have focused on discovering the unbiased circulating biochemical markers to allow early detection and treatment of NAFLD. Comprehensive genomic studies have also begun to provide new insights into the gene polymorphism to understand patient-disease variations. Therefore, NAFLD is considered a complex and mutifactorial disease phenotype resulting from environmental exposures acting on a susceptible polygenic background. This paper reviewed the current status of proteomic and genomic studies that have contributed to the understanding of NAFLD pathogenesis. For proteomics section, this review highlighted functional proteins that involved in: (1) transportation; (2) metabolic pathway; (3) acute phase reaction; (4) anti-inflammatory; (5) extracellular matrix; and (6) immune system. In the genomic studies, this review will discuss genes which involved in: (1) lipolysis; (2) adipokines; and (3) cytokines production. PMID:25024592

  11. Reverse translation in tuberculosis: neutrophils as clues for development of active disease

    Directory of Open Access Journals (Sweden)

    Anca eDorhoi

    2014-02-01

    Full Text Available Tuberculosis (TB is a major health issue globally. Although typically the disease can be cured by chemotherapy and prevented – at least in part, in newborn by vaccination, general consensus exists that development of novel intervention measures requires better understanding of disease mechanisms. Human TB is characterized by polarity between host resistance as seen in 2 billion individuals with latent TB infection and susceptibility occurring in 9 million individuals who develop active TB disease every year. Experimental animal models often do not reflect this polarity adequately, calling for a reverse translational approach. Gene expression profiling has allowed identification of biomarkers that discriminate between latent infection and active disease. Functional analysis of most relevant markers in experimental animal models can help to better understand mechanisms driving disease progression. We have embarked on in-depth characterization of candidate markers of pathology and protection hereby harnessing mouse mutants with defined gene deficiencies. Analysis of mutants deficient in miR223 expression and CXCL5 production allowed elucidation of relevant pathogenic mechanisms. Intriguingly, these deficiencies were linked to aberrant neutrophil activities. Our findings point to a detrimental potential of neutrophils in TB. Reciprocally, measures that control neutrophils should be leveraged for amelioration of TB in adjunct to chemotherapy.

  12. Receptivity to Tobacco Advertising and Susceptibility to Tobacco Products.

    Science.gov (United States)

    Pierce, John P; Sargent, James D; White, Martha M; Borek, Nicolette; Portnoy, David B; Green, Victoria R; Kaufman, Annette R; Stanton, Cassandra A; Bansal-Travers, Maansi; Strong, David R; Pearson, Jennifer L; Coleman, Blair N; Leas, Eric; Noble, Madison L; Trinidad, Dennis R; Moran, Meghan B; Carusi, Charles; Hyland, Andrew; Messer, Karen

    2017-06-01

    Non-cigarette tobacco marketing is less regulated and may promote cigarette smoking among adolescents. We quantified receptivity to advertising for multiple tobacco products and hypothesized associations with susceptibility to cigarette smoking. Wave 1 of the nationally representative PATH (Population Assessment of Tobacco and Health) study interviewed 10 751 adolescents who had never used tobacco. A stratified random selection of 5 advertisements for each of cigarettes, e-cigarettes, smokeless products, and cigars were shown from 959 recent tobacco advertisements. Aided recall was classified as low receptivity, and image-liking or favorite ad as higher receptivity. The main dependent variable was susceptibility to cigarette smoking. Among US youth, 41% of 12 to 13 year olds and half of older adolescents were receptive to at least 1 tobacco advertisement. Across each age group, receptivity to advertising was highest for e-cigarettes (28%-33%) followed by cigarettes (22%-25%), smokeless tobacco (15%-21%), and cigars (8%-13%). E-cigarette ads shown on television had the highest recall. Among cigarette-susceptible adolescents, receptivity to e-cigarette advertising (39.7%; 95% confidence interval [CI]: 37.9%-41.6%) was higher than for cigarette advertising (31.7%; 95% CI: 29.9%-33.6%). Receptivity to advertising for each tobacco product was associated with increased susceptibility to cigarette smoking, with no significant difference across products (similar odds for both cigarette and e-cigarette advertising; adjusted odds ratio = 1.22; 95% CI: 1.09-1.37). A large proportion of US adolescent never tobacco users are receptive to tobacco advertising, with television advertising for e-cigarettes having the highest recall. Receptivity to advertising for each non-cigarette tobacco product was associated with susceptibility to smoke cigarettes. Copyright © 2017 by the American Academy of Pediatrics.