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PubMed2002

Ethnic-specific genetic associations with pulmonary tuberculosis.

Several susceptibility-associated genetic polymorphisms have been proposed to explain differential susceptibility to tuberculosis (TB) disease progression in different populations. Here, polymorphisms in the natural resistance-associated macrophage protein 1 (NRAMP1), vitamin D receptor, tumor necrosis factor-alpha, interleukin (IL)-1, and IL-10 genes were evaluated in 358 Cambodian patients with pulmonary TB and 106 tuberculin-positive control subjects. Heterozygosity for the -1082 polymorphism of the IL-10 promoter and heterozygosity for 2 linked polymorphic NRAMP1 variants, D543N and 3' untranslated region, were associated with TB susceptibility and resistance, respectively. Other polymorphisms associated with differential susceptibility to TB were not associated with susceptibility or resistance to TB in Cambodians. The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.

Adult↗
PubMed1977

A systems-analytical approach to macro-evolutionary phenomena.

Two sets of evolutionary phenomena find no explanation through current theory. For the static phenomena (such as homology, homonomy, systematic weight, and "Type") there is no causal base, although these principles are responsible for all phenomena of predictable order in the living world. The dynamic phenomena (such as homodynamy, coadaptation, parallel evolution, orthogenesis, Cartesian transformation, typostrophy, hetermorphosis, systemic mutation, and spontaneous atavism) have no causal explanation, although they are responsible for all directed phenomena in macroevolution. These phenomena share one unifying principle which can be explained by a system theory of evolution based on, but extending, the current synthetic theory. This system theory envisages feedback conditions between genotype and phenotype by which the chances of successful adaptation increase if the genetic units, by insertion of superimposed genes, copy the functional dependencies of those phene structures for which they code. This positive feedback of the adaptive speed (or probability) within a single adaptive direction is compensated by negative feedback in most of the alternative directions. The negative feedback operates as selection not be environmental but by systemic conditions developed by the organization of the organism. The consequences are an imitatively organized system of gene interractions, the rehabilitation of classical systematics, the reality of the "natural system," and, in general, the resolution of the contradiction between neodarwinists and their critics, between reductionists and holists, between "a priori" and "a posteriori" views, between idealism and materialism, and between the notions of freedom and of purpose in evolution.

Biological Evolution↗
PubMed2000

High frequency of circulating gamma delta T cells with dominance of the v(delta)1 subset in a healthy population.

TCR gamma delta(+) cells constitute <5% of all circulating T cells in healthy, adult Caucasians, and V(delta)1(+) cells constitute a minority of these cells. In contrast to TCR alpha beta(+) cells, their repertoire is selected extrathymically by environmental antigens. Although increased frequencies of V(delta)1(+) cells are found in several diseases, their function remains obscure. Here we show that the frequency of peripheral blood gamma delta T cells in healthy West Africans is about twice that of Caucasians, mainly due to a 5-fold increase in V(delta)1(+) cells, which is consequently the dominant subset. No age dependency of V(delta)1 frequencies was identified and the V(delta)1(+) cells in the African donors did not show preferential V(gamma) chain usage. Analysis of the CDR3 region size did not reveal any particular skewing of the V(delta)1 repertoire, although oligoclonality was more pronounced in adults compared to children. The proportions of CD8(+), CD38(+) and CD45RA(hi)CD45RO(-) cells within the V(delta)1(+) subset were higher in the African than in the European donors, without obvious differences in expression of activation markers. No significant correlations between levels of V(delta)1(+) cells and environmental antigens or immunological parameters were identified. Taken together, the evidence argues against a CDR3-restricted, antigen-driven expansion of V(delta)1(+) cells in the African study population. Our study shows that high frequencies of TCR gamma delta(+) cells with dominance of the V(delta)1(+) subset can occur at the population level in healthy people, raising questions about the physiological role of V(delta)1(+) T cells in the function and regulation of the immune system.

Adult↗
PubMed2025

Sweeps in Space: Leveraging Geographic Data to Identify Beneficial Alleles in Anopheles gambiae.

As organisms adapt to environmental changes, natural selection modifies the frequency of nonneutral alleles. For beneficial mutations, the outcome of this process may be a selective sweep, in which an allele rapidly increases in frequency and perhaps reaches fixation within a population. Selective sweeps have well-studied effects on patterns of local genetic variation in panmictic populations, but much less is known about the dynamics of sweeps in continuous space. In particular, because limited movement across a landscape leads to unique patterns of population structure, spatial dynamics may influence the trajectory of selected mutations. Here, we use forward-in-time, individual-based simulations in continuous space to study the impact of space on beneficial mutations as they sweep through a population. In particular, we show that selection changes the joint distribution of allele frequency and geographic range occupied by a focal allele and demonstrate that this signal can be used to identify selective sweeps. We then leverage this signal to identify in-progress selective sweeps within the malaria vector Anopheles gambiae, a species under strong selection pressure from vector control measures. By considering space, we identify multiple previously undescribed variants with potential phenotypic consequences, including mutations impacting known IR-associated genes and altering protein structure and properties. Our results demonstrate a novel signal for detecting selection in spatial population genetic data that may have implications for genomic surveillance and understanding geographic patterns of genetic variation.

Animals↗
PubMed2000

Genetics of growth and reproduction in the turkey. 14. Changes in genetic parameters over thirty generations of selection for increased body weight.

A line (F) of turkeys was selected over 30 generations for increased 16-wk BW. The base population for the F line was a randombred control population (RBC2) that was maintained without conscious selection and used to remove yearly environmental variation in the F line. Selection was effective in increasing 16-wk BW in the F line. Selection differentials based on the mean of selected parents minus mean of entire population (intended) and intended selection differentials weighted for number of offspring produced (actual) did not consistently differ, indicating that natural selection was not significantly opposing artificial selection. The realized heritability (h2) of 16-wk BW in the F line, based on the linear regression of the selection response on accumulated actual selection differentials, declined with selection; the decline appeared to be slightly different for males than females. For both sexes combined, the realized h2 was 0.309+/-0.022 (SE), 0.268+/-0.033, 0.242+/-0.026, and 0.254+/-0.007, respectively, for Generations 1 to 10, 11 to 20, 21 to 30, and 1 to 30. Genetic increases in 16-wk BW in the F line were positively associated with BW at other ages (8, 20, and 24 wk of age and at 50% production), days from stimulatory lighting to production of the first egg, and egg weight. Genetic increases were negatively associated with egg production, intensity of lay (maximum and average clutch length and rate of lay), and hatch of fertile eggs. There was no significant relationship between 16-wk BW and total days lost from broodiness or fertility. The genetic changes in some correlated traits were not consistent in all generation intervals studied, indicating that the genetic correlation between the selected trait (16 wk BW) and the correlated trait changed with selection.

Animals↗
PubMed1994

Kinematic response of human spermatozoa to nonoxynol-9.

This study was an examination of the dose response of the kinematics of human sperm motion to 1-min and 30-min incubations with the spermicide Nonoxynol-9 (N9). At concentrations resulting in only slight reductions in percentages of motile sperm (MOT), increasing N9 decreased the progressiveness of sperm motion (reflected in decreasing straight line velocity). This decline in progressiveness resulted from both decline in the vigor (reflected in decreasing curvilinear velocity; VCL) and disruption of the pattern (reflected in decreasing linearity; LIN) of such motion. Since, after the 1-min incubation, VCL declined only slightly for seminal sperm over this range of N9 concentrations, declines in sperm progressiveness were primarily due to decreases in LIN. For sperm collected from the pellet fraction from a Percoll gradient technique, however, VCL declined substantially even at low concentrations of spermicide. These Percoll-separated sperm were, on the other hand, less sensitive to N9 than seminal sperm in terms of the dose response of MOT. This added resistance may be attributed to selection or to environmental or physiological changes caused by Percoll separation. Responses in mean amplitude of lateral head displacement (ALH) to increasing N9 also differed for the two treatments, increasing on average for seminal sperm while decreasing on average for Percoll-separated sperm.

Cell Separation↗
PubMed1999

Plutonium excretion in urine of residents living near the Rocky Flats Environmental Technology Site.

An assessment of current levels of 239Pu in individuals living near the Rocky Flats Environmental Technology Site was conducted. Long-term residents of areas adjacent to the Site, as well as people living well beyond any expected influence of the site, provided urine samples, which were analyzed by fission track analysis for the levels of 239Pu. The Rocky Flats Environmental Technology Site vicinity participants were selected for maximum possible exposure to environmental plutonium by virtue of residence location, length of residence, age, and outdoor lifestyle. The mean 239Pu excretion rate in urine estimated for the entire Rocky Flats group was 1.1 microBq d(-1), in contrast to that estimated for the background group (0.85 microBq d(-1)). The estimated median 239Pu excretion rate for the Rocky Flats group was 1.1 microBq d(-1), compared to 0.54 microBq d(-1) for the background group. Both parametric and non-parametric tests indicated that these differences were not statistically significant (alpha = 0.05). Measured levels of 239Pu in urine from the Rocky Flats group were low and well within the range of reported "background" values, indicating small doses and low health risks. The fission track analysis technique may not be sufficiently accurate or precise to allow definitive comparisons between two groups of subjects with near-background levels of 239Pu in urine.

Adult↗
PubMedDate not supplied

Selected correlates of job performance of community health nurses.

Using a study sample of 32 community health nurses employed by the Visiting Nurse Association of Hartford, Inc., the relationship of selected attribute and environmental variables was studied, and a quantitative rating of the nurses' job performances was developed. A nonhierarchical stepwise multiple regression analysis was used to determine the relationship between job performance and the independent variables: age, education, work experience, five state board licensure examinations, job satisfaction, and leadership behavior. A principal component analysis with Varimax rotation was used to reduce the independent variables to three components: state board examinations, biographical information, and attitude toward the work environment. The raw score model produced a larger multiple correlation (p < .05) than the reduced rank model in the regression analyses. This result was due, in part, to the small sample size in relation to the number of independent variables for the raw score model. However, the rank reduction of the raw scores captured only 38 percent of the variation among the items.

Attitude of Health Personnel↗
PubMedDate not supplied

Predicting nontraditional student retention and academic achievement.

Early identification of factors that restrict or support academic achievement and retention is a priority concern for nurse educators. Guided by the Bean and Metzner model of nontraditional undergraduate student attrition, the author examines the influence of self-efficacy and select academic and environmental variables on academic achievement and retention among nontraditional nursing students.

Adult↗
PubMed1994

Nosocomial Malassezia pachydermatis bloodstream infections in a neonatal intensive care unit.

Malassezia pachydermatis, a lipophilic yeast, has been described to cause sporadic nosocomial bloodstream infections (BSI). Nosocomial outbreaks of M. pachydermatis BSI have never been described. A cluster of M. pachydermatis BSIs in the neonatal intensive care unit at Louisiana State University Medical Center, University Hospital provided the opportunity to investigate the epidemiology of this organism and apply molecular epidemiologic typing techniques. A case-patient was defined as any neonatal intensive care unit patient in University Hospital with a blood culture positive for M. pachydermatis from January 1, 1989, through August 15, 1991. Five patients met the case definition. Case-patients were premature as estimated by gestational age and required prolonged hospitalization. Case-patients received parenteral nutrition and intravenous lipids for twice as many days as randomly selected controls. No environmental source of M. pachydermatis was identified; however, infants on each side of a previously identified M. pachydermatis-colonized infant became colonized with M. pachydermatis during a 20-day period. Chromosomal analysis of five M. pachydermatis blood isolates from two case-patients had identical banding patterns. These data show that M. pachydermatis can cause nosocomial BSI outbreaks, that premature infants receiving parenteral nutrition and/or lipids may be at greatest risk and that transmission is most likely from person to person, probably via the hands of medical personnel.

Cross Infection↗
PubMed1984

Reliability and construct validity of alternate forms of the CLS Inventory.

Learning style assessment measures the preferences for specific ways of learning in selected teaching-learning situations. The Learning Styles Inventory, which was constructed based on the Canfield model of learning style, assesses learning preferences that focus on selected motivational and environmental factors present in formal instructional situations. The study presented here was designed to determine the reliability and construct validity of Canfield's ipsative inventory, and an alternate normative form developed by the authors. Results suggest that the alternate form is at least as reliable as the original ipsative inventory, with a factor structure that is congruent with the Canfield learning styles model.

Adult↗
PubMed2000

Neoteny and progenesis as two heterochronic processes involved in paedomorphosis in Triturus alpestris (Amphibia: Caudata).

Current theories on the evolution of paedomorphosis suppose that several ontogenetic pathways have appeared according to different selective pressures. The aim of this study was to find out whether two distinct processes can lead to paedomorphosis in the Alpine newt, Triturus alpestris. In this respect, we compared age structures of paedomorphic and metamorphic individuals in two newt populations where the two forms lived syntopically. Whereas paedomorphosis resulted in a slower rate of somatic development in one population, it resulted in an acceleration of sexual maturation in the other population. These processes correspond to neoteny and progenesis, respectively. These results suggest that phenotypic plasticity can result from contrasted ontogenetic pathways between two populations of the same species. They give support to models that consider gonadic development as the target of selection under different environmental pressures.

Animals↗
PubMed2024

Evolutionary consequences of domestication on the selective effects of new amino acid changing mutations in canids.

The domestication of wild canids led to dogs no longer living in the wild but instead residing alongside humans. Extreme changes in behavior and diet associated with domestication may have led to the relaxation of the selective pressure on traits that may be less important in the domesticated context. Thus, here we hypothesize that strongly deleterious mutations may have become less deleterious in domesticated populations. We test this hypothesis by estimating the distribution of fitness effects (DFE) for new amino acid changing mutations using whole-genome sequence data from 24 gray wolves and 61 breed dogs. We find that the DFE is strikingly similar across canids, with 26-28% of new amino acid changing mutations being neutral/nearly neutral (|s| < 1e-5), and 41-48% under strong purifying selection (|s| > 1e-2). Our results are robust to different model assumptions suggesting that the DFE is stable across short evolutionary timescales, even in the face of putative drastic changes in the selective pressure caused by artificial selection during domestication and breed formation. On par with previous works describing DFE evolution, our data indicate that the DFE of amino acid changing mutations depends more strongly on genome structure and organismal characteristics, and less so on shifting selective pressures or environmental factors. Given the constant DFE and previous data showing that genetic variants that differentiate wolf and dog populations are enriched in regulatory elements, we speculate that domestication may have had a larger impact on regulatory variation than on amino acid changing mutations.

Journal Article↗
PubMed2025

Sweeps in space: leveraging geographic data to identify beneficial alleles in Anopheles gambiae.

As organisms adapt to environmental changes, natural selection modifies the frequency of non-neutral alleles. For beneficial mutations, the outcome of this process may be a selective sweep, in which an allele rapidly increases in frequency and perhaps reaches fixation within a population. Selective sweeps have well-studied effects on patterns of local genetic variation in panmictic populations, but much less is known about the dynamics of sweeps in continuous space. In particular, because limited movement across a landscape leads to unique patterns of population structure, spatial dynamics may influence the trajectory of selected mutations. Here, we use forward-in-time, individual-based simulations in continuous space to study the impact of space on beneficial mutations as they sweep through a population. In particular, we show that selection changes the joint distribution of allele frequency and geographic range occupied by a focal allele and demonstrate that this signal can be used to identify selective sweeps. We then leverage this signal to identify in-progress selective sweeps within the malaria vector Anopheles gambiae , a species under strong selection pressure from vector control measures. By considering space, we identify multiple previously undescribed variants with potential phenotypic consequences, including mutations impacting known IR-associated genes and altering protein structure and properties. Our results demonstrate a novel signal for detecting selection in spatial population genetic data that may have implications for genomic surveillance and understanding geographic patterns of genetic variation.

Journal Article↗
PubMed2003

Patterns of larval dispersal and their effect on the maintenance of a blue mussel hybrid zone in southwestern England.

The blue mussels Mytilus edulis and M. galloprovincialis hybridize in southwestern England. Within this hybrid zone environmentally based directional selection favors individuals with alleles specific to M. galloprovincialis. What forces are countering this directional selection and allowing for the maintenance of a stable hybrid population are unknown. We used both the genetics of recently settled larvae and a fine-scale model of the physical oceanography of the region to determine the patterns of larval dispersal throughout the hybrid zone and the bordering parental populations. Evidence from both the model and the genetics suggests that the hybrid zone lies between two barriers to dispersal. Start Point separates the M. edulis population from the hybrid zone and allows minimal dispersal from the hybrid zone into the M. edulis population, but none in the other direction. Likewise, the M. galloprovincialis populations along the northern coast of Cornwall regularly receive immigrating larvae from the hybrid zone, but larvae from the M. galloprovincialis population do not enter the hybrid zone. However, larvae settling at hybrid zone sites have high frequencies of alleles specific to M. edulis, suggesting that reproductive barriers, selection in the larval stage, or gene flow from an undetermined source is effectively balancing the directional selection observed in the adults.

Animals↗
PubMed1983

Problems of medical students in India.

A sample of 505 medical students from five medical colleges with urban and regional environmental settings was selected. The subjects belonged to three groups: (1) students having covered only 3-4 months in college; (2) students exceeding 18 months in college; and (3) interns (students having graduated). A comparison was made between male and female students belonging to high and low socio-economic status groups from both urban as well as regional colleges separately. Findings suggest that in urban colleges males report significantly more problems than females in areas like: courtship, sex and marriage; morals and religion; adjustment to college work; and curriculum and teaching procedure. In regional colleges, males as compared with females reveal significantly more problems in areas like: finance, living conditions and employment; courtship, sex and marriage; home and family; the future: vocational and educational matters; and curriculum and teaching procedure.

Education, Medical, Undergraduate↗
PubMed2006

HLA class II disease associations in southern Africa.

Southern Africa harbors several population groups representing a diversity of gene pool origins. This provides a unique opportunity to study genetic disease predisposition in these populations against a common environmental background. Human leukocyte antigen (HLA) association studies of these populations could improve knowledge on inter-population variation and HLA-related disease susceptibility. The aim of this paper is to review HLA class II disease associations reported for southern African population groups, compare them with findings in other populations and identify those unique to southern Africa. A number of HLA class II disease associations appear to be unique to southern African populations. These include DRB1*14011 association with insulin-dependent diabetes mellitus susceptibility in the Xhosa and DRB1*10 and DQB1*0302 with rheumatoid arthritis susceptibility in the South African (SA) Indian and SA Coloreds, respectively. A noteworthy similarity in class II disease association was observed among southern African Caucasoid and their European parental populations. Unique HLA class II disease associations observed in southern Africa are consistent with the notion that unique environmental and natural selective factors have resulted in certain ethnic-specific HLA class II disease associations, while common HLA class II disease associations found across different populations support the notion that common diseases are caused by common, ancient alleles present in indigenous African populations.

Africa, Southern↗