Meta-Times and Extended Subordination

DEFF Research Database (Denmark)

Barndorff-Nielsen, Ole; Pedersen, Jan

The problem of defining subordination of a homogeneous Lévy basis by a non-negative homogeneous Lévy basis is discussed. An explicit construction, generalizing the usual one-dimensional case, is given. This construction involves certain random meta-time changes.......The problem of defining subordination of a homogeneous Lévy basis by a non-negative homogeneous Lévy basis is discussed. An explicit construction, generalizing the usual one-dimensional case, is given. This construction involves certain random meta-time changes....

13 CFR 120.923 - Policies on subordination.

Science.gov (United States)

2010-01-01

... Section 120.923 Business Credit and Assistance SMALL BUSINESS ADMINISTRATION BUSINESS LOANS Development Company Loan Program (504) Third Party Loans § 120.923 Policies on subordination. (a) Financing provided by the seller of Project Property must be subordinate to the 504 loan. SBA may waive the...

V2 word order in subordinate clauses in spoken Danish

DEFF Research Database (Denmark)

Jensen, Torben Juel; Christensen, Tanya Karoli

are asymmetrically distributed, we argue that the word order difference should rather be seen as a signal of (subtle) semantic differences. In main clauses, V3 is highly marked in comparison to V2, and occurs in what may be called emotives. In subordinate clauses, V2 is marked and signals what has been called...... ”assertiveness”, but is rather a question of foregrounding (cf. Simons 2007: Main Point of Utterance). The paper presents the results of a study of word order in subordinate clauses in contemporary spoken Danish and focuses on how to include the proposed semantic difference as a factor influencing the choice...... studies of two age cohorts of speakers in Copenhagen, recorded in the 1980s and again in 2005-07, and on recent recordings with two age cohorts of speakers from the western part of Jutland. This makes it possible to study variation and change with respect to word order in subordinate clauses in both real...

The tempered stable process with infinitely divisible inverse subordinators

International Nuclear Information System (INIS)

Wyłomańska, Agnieszka

2013-01-01

In the last decade processes driven by inverse subordinators have become extremely popular. They have been used in many different applications, especially for data with observable constant time periods. However, the classical model, i.e. the subordinated Brownian motion, can be inappropriate for the description of observed phenomena that exhibit behavior not adequate for Gaussian systems. Therefore, in this paper we extend the classical approach and replace the Brownian motion by the tempered stable process. Moreover, on the other hand, as an extension of the classical model, we analyze the general class of inverse subordinators. We examine the main properties of the tempered stable process driven by inverse subordinators from the infinitely divisible class of distributions. We show the fractional Fokker–Planck equation of the examined process and the asymptotic behavior of the mean square displacement for two cases of subordinators. Additionally, we examine how an external force can influence the examined characteristics. (paper)

On the Reciprocal Subordination of Multiculturalism and Migration Policies

DEFF Research Database (Denmark)

Lægaard, Sune

2017-01-01

Multiculturalism and migration are about different things. Migration is about movement of people across borders. It raises political questions about state sovereignty, territorial rights and freedom of movement. Multiculturalism is rather about political measures for handling and accommodating di...... subordinated to concerns relating to migration. The chapter identifies the empirical developments leading to these forms of subordination, provides a theoretical account of them, and argues that both forms of subordination are normatively problematic....

12 CFR 5.47 - Subordinated debt as capital.

Science.gov (United States)

2010-01-01

... compliance concern, or raises a significant legal or policy issue. (ii) Tier 2 and Tier 3 capital. When the... 12 Banks and Banking 1 2010-01-01 2010-01-01 false Subordinated debt as capital. 5.47 Section 5.47... capital. (a) Authority. 12 U.S.C. 93a. (b) Licensing requirements. A national bank does not need prior OCC...

Subordinate debt, deposit insurance and market oriented monitoring of banks

Directory of Open Access Journals (Sweden)

Gaurav S. Chauhan

2016-09-01

Full Text Available We present a model of a bank with endogenous risk choices, where delegated monitoring by an active market in subordinate debt helps in containing the bank's risk shifting in the presence of deposit insurance. In comparison to static ex ante contracting, an active market enables continuous monitoring by subordinate debt to penalise the bank's risk shifting. The model is instrumental in deriving optimal level of subordinate debt required to achieve equilibrium where banks choose risk levels consistent with the first best as envisaged by a social planner. The optimal quantity of subordinate debt further eliminates any risk shifting associated even with risk insensitive premiums.

Managers can drive their subordinates mad.

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Kets de Vries, M F

1979-01-01

This article explores the phenomenon of "folie à deux"--an aberrant relationship between manager and subordinates that is characterized by shared delusions. Though most visible among public figures like Adolf Hitler, J. Edgar Hoover and Jim Jones, the problem also surfaces among private managers and their associates with dangerous implications for the firm. In folie à deux, the unusual behavior patterns of a manager in an isolated setting become mirrored by dependent subordinates, and the organization loses touch with its original goals and strategies. The author describes the dynamics of this phenomenon and details steps to remedy the situation. Once recognized, he suggests that the manager establish a trusting relationship with the instigator as a prelude to altering the behavior patterns, then transfer the subordinates and reorient the work climate so that independence and responsibility are encouraged. If the instigator is a powerful executive, the author suggests enlisting the support of a countervailing force, such as the government or a union, to guide the organization away from possible self-destructive adventures.

Stable Lévy motion with inverse Gaussian subordinator

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Kumar, A.; Wyłomańska, A.; Gajda, J.

2017-09-01

In this paper we study the stable Lévy motion subordinated by the so-called inverse Gaussian process. This process extends the well known normal inverse Gaussian (NIG) process introduced by Barndorff-Nielsen, which arises by subordinating ordinary Brownian motion (with drift) with inverse Gaussian process. The NIG process found many interesting applications, especially in financial data description. We discuss here the main features of the introduced subordinated process, such as distributional properties, existence of fractional order moments and asymptotic tail behavior. We show the connection of the process with continuous time random walk. Further, the governing fractional partial differential equations for the probability density function is also obtained. Moreover, we discuss the asymptotic distribution of sample mean square displacement, the main tool in detection of anomalous diffusion phenomena (Metzler et al., 2014). In order to apply the stable Lévy motion time-changed by inverse Gaussian subordinator we propose a step-by-step procedure of parameters estimation. At the end, we show how the examined process can be useful to model financial time series.

ADRA2B deletion variant selectively predicts stress-induced enhancement of long-term memory in females.

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Zoladz, Phillip R; Kalchik, Andrea E; Hoffman, Mackenzie M; Aufdenkampe, Rachael L; Lyle, Sarah M; Peters, David M; Brown, Callie M; Cadle, Chelsea E; Scharf, Amanda R; Dailey, Alison M; Wolters, Nicholas E; Talbot, Jeffery N; Rorabaugh, Boyd R

2014-10-01

Clarifying the mechanisms that underlie stress-induced alterations of learning and memory may lend important insight into susceptibility factors governing the development of stress-related psychological disorders, such as post-traumatic stress disorder (PTSD). Previous work has shown that carriers of the ADRA2B Glu(301)-Glu(303) deletion variant exhibit enhanced emotional memory, greater amygdala responses to emotional stimuli and greater intrusiveness of traumatic memories. We speculated that carriers of this deletion variant might also be more vulnerable to stress-induced enhancements of long-term memory, which would implicate the variant as a possible susceptibility factor for traumatic memory formation. One hundred and twenty participants (72 males, 48 females) submerged their hand in ice cold (stress) or warm (no stress) water for 3min. Immediately afterwards, they studied a list of 42 words varying in emotional valence and arousal and then completed an immediate free recall test. Twenty-four hours later, participants' memory for the word list was examined via free recall and recognition assessments. Stressed participants exhibiting greater heart rate responses to the stressor had enhanced recall on the 24-h assessment. Importantly, this enhancement was independent of the emotional nature of the learned information. In contrast to previous work, we did not observe a general enhancement of memory for emotional information in ADRA2B deletion carriers. However, stressed female ADRA2B deletion carriers, particularly those exhibiting greater heart rate responses to the stressor, did demonstrate greater recognition memory than all other groups. Collectively, these findings implicate autonomic mechanisms in the pre-learning stress-induced enhancement of long-term memory and suggest that the ADRA2B deletion variant may selectively predict stress effects on memory in females. Such findings lend important insight into the physiological mechanisms underlying stress

Linking subordinate political skill to supervisor dependence and reward recommendations: a moderated mediation model.

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Shi, Junqi; Johnson, Russell E; Liu, Yihao; Wang, Mo

2013-03-01

In this study, we examined the relations of subordinate political skill with supervisor's dependence on the subordinate and supervisor reward recommendation, as well as mediating (interaction frequency with supervisor) and moderating (supervisor political behavior) variables of these relations. Our theoretical model was tested using data collected from employees in a company that specialized in construction management. Analyses of multisource and lagged data from 53 construction management team supervisors and 296 subordinates indicated that subordinate political skill was positively related to supervisor reward recommendation via subordinate's interaction frequency with supervisor. Although interaction frequency with a supervisor was also positively related to the supervisor's dependence on the subordinate, the indirect effect of subordinate political skill on dependence was not significant. Further, both the relationship between subordinate political skill and interaction frequency with a supervisor and the indirect relationships between subordinate political skill and supervisor reward recommendation were stronger when supervisors exhibited more political behavior.

Differential effects of chronic fluoxetine on the behavior of dominant and subordinate naked mole-rats.

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Mongillo, Daniel L; Kosyachkova, Ekaterina A; Nguyen, Tam M; Holmes, Melissa M

2014-01-01

Naked mole-rats are eusocial rodents that live in large subterranean colonies with a strict reproductive and social hierarchy. The breeding female (referred to as the queen) and 1 to 3 breeding males are the only reproductive members of the colony. Breeders are socially dominant and all other colony members are non-reproductive subordinates. The effects of manipulating the serotonergic neurotransmitter system on aggression and dominance behaviors are well studied in many species, but not in eusocial rodents like the naked mole-rat. The current study investigated how the serotonergic system influences aggressive/dominant behaviors in this species. To do this, two separate but related experiments were conducted: the effects of fluoxetine hydrochloride (FLX) on status-specific behaviors of subordinates (Experiment 1) and dominant queens (Experiment 2) were evaluated both in-colony and in a social-pairing paradigm. In accordance with our main hypothesis, chronic treatment of FLX attenuated the frequency and duration of aggression in queens, but not subordinates, when paired with an unfamiliar conspecific. Further exploration of pharmacological manipulation on status-specific behaviors of this eusocial species may elucidate the neurobiological mechanisms underlying their unique and rigid social hierarchy. Copyright © 2013 Elsevier B.V. All rights reserved.

Factors affecting fecal glucocorticoid levels in semi-free-ranging female mandrills (Mandrillus sphinx).

Science.gov (United States)

Setchell, Joanna M; Smith, Tessa; Wickings, E Jean; Knapp, Leslie A

2008-11-01

Subordinate female cercopithecine primates often experience decreased reproductive success in comparison with high-ranking females, with a later age at sexual maturity and first reproduction and/or longer interbirth intervals. One explanation that has traditionally been advanced to explain this is high levels of chronic social stress in subordinates, resulting from agonistic and aggressive interactions and leading to higher basal levels of glucocorticoids. We assessed the relationships among fecal cortisol levels and reproductive condition, dominance rank, degree of social support, and fertility in female mandrills (Mandrillus sphinx) living in a semi-free-ranging colony in Franceville, Gabon. Lower-ranking females in this colony have a reproductive disadvantage relative to higher-ranking females, and we were interested in determining whether this relationship between dominance rank and reproductive success is mediated through stress hormones. We analyzed 340 fecal samples from 19 females, collected over a 14-month period. We found that pregnant females experienced higher fecal cortisol levels than cycling or lactating females. This is similar to results for other primate species and is likely owing to increased metabolic demands and interactions between the hypothalamus-pituitary-adrenal axis, estrogen, and placental production of corticotrophin releasing hormones during pregnancy. There was no influence of dominance rank on fecal cortisol levels, suggesting that subordinate females do not suffer chronic stress. This may be because female mandrills have a stable social hierarchy, with low levels of aggression and high social support. However, we found no relationship between matriline size, as a measure of social support, and fecal cortisol levels. Subordinates may be able to avoid aggression from dominants in the large enclosure or may react only transiently to specific aggressive events, rather than continuously expecting them. Finally, we found no relationship

Stress coping style does not determine social status, but influences the consequences of social subordination stress.

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Boersma, Gretha J; Smeltzer, Michael D; Scott, Karen A; Scheurink, Anton J; Tamashiro, Kellie L; Sakai, Randall R

2017-09-01

Chronic stress exposure may have negative consequences for health. One of the most common sources of chronic stress is stress associated with social interaction. In rodents, the effects of social stress can be studied in a naturalistic way using the visual burrow system (VBS). The way an individual copes with stress, their "stress coping style", may influence the consequences of social stress. In the current study we tested the hypothesis that stress coping style may modulate social status and influence the consequences of having a lower social status. We formed 7 VBS colonies, with 1 proactive coping male, 1 passive coping male, and 4 female rats per colony to assess whether a rat's coping style prior to colony formation could predict whether that individual is more likely to become socially dominant. The rats remained in their respective colonies for 14days and the physiological and behavioral consequences of social stress were assessed. Our study shows that stress coping style does not predict social status. However, stress coping style may influence the consequences of having a lower social status. Subordinate passive and proactive rats had distinctly different wound patterns; proactive rats had more wounds on the front of their bodies. Behavioral analysis confirmed that proactive subordinate rats engaged in more offensive interactions. Furthermore, subordinate rats with a proactive stress coping style had larger adrenals, and increased stress responsivity to a novel acute stressor (restraint stress) compared to passive subordinate rats or dominant rats, suggesting that the allostatic load may have been larger in this group. Copyright © 2017 Elsevier Inc. All rights reserved.

Dirty Hands Make Dirty Leaders?! The Effects of Touching Dirty Objects on Rewarding Unethical Subordinates as a Function of a Leader’s Self-Interest

NARCIS (Netherlands)

Cramwinckel, F.M.|info:eu-repo/dai/nl/339458739; De Cremer, D.; van Dijke, M.

2012-01-01

We studied the role of social dynamics in moral decision-making and behavior by investigating how physical sensations of dirtiness versus cleanliness influence moral behavior in leader–subordinate relationships, and whether a leader’s self-interest functions as a boundary condition to this effect. A

No change in subordinate butterflyfish diets following removal of behaviourally dominant species

Science.gov (United States)

Blowes, Shane A.; Pratchett, Morgan S.; Connolly, Sean R.

2017-03-01

Direct interference interactions between species are often mediated by aggression and related to resource use. Interference interactions are frequently asymmetric, whereby one species wins the majority of interactions; however, the effect of this asymmetry on the diet of subordinate species has not received the same attention as the impact of interference on habitat use. Here we experimentally evaluated whether release from asymmetric interference led to increased use of a preferred dietary resource by subordinate species, using coral-feeding butterflyfishes as a model system. Following experimental removal of the behaviourally dominant species, we found no change in diet breadth or foraging on the preferred resource by subordinate species. Our results suggest that release from asymmetric interspecific interference does not necessarily result in changes to subordinate species' diets, at least not over the course of our study. Rather, consistently asymmetric interactions may contribute to behavioural conditioning of subordinate species, meaning that even in the absence of dominants, subordinate individuals maintain established feeding patterns. Additionally, our results suggest that antagonistic interactions between butterflyfishes may have contributed to niche partitioning and conservatism over evolutionary time scales.

Susceptibility or resilience? Prenatal stress predisposes male rats to social subordination, but facilitates adaptation to subordinate status.

Science.gov (United States)

Scott, Karen A; de Kloet, Annette D; Smeltzer, Michael D; Krause, Eric G; Flak, Jonathan N; Melhorn, Susan J; Foster, Michelle T; Tamashiro, Kellie L K; Sakai, Randall R

2017-09-01

Mood disorders such as major depressive disorder (MDD) affect a significant proportion of the population. Although progress has been made in the development of therapeutics, a large number of individuals do not attain full remission of symptoms and adverse side effects affect treatment compliance for some. In order to develop new therapies, there is a push for new models that better reflect the multiple risk factors that likely contribute to the development of depressive illness. We hypothesized that early life stress would exacerbate the depressive-like phenotype that we have previously observed in socially subordinate (SUB) adult male rats in the visible burrow system (VBS), a semi-natural, ethologically relevant environment in which males in a colony form a dominance hierarchy. Dams were exposed to chronic variable stress (CVS) during the last week of gestation, resulting in a robust and non-habituating glucocorticoid response that did not alter maternal food intake, body weight or litter size and weight. As adults, one prenatal CVS (PCVS) and one non-stressed (NS) male were housed in the VBS with adult females. Although there were no overt differences between PCVS and NS male offspring prior to VBS housing, a greater percentage of PCVS males became SUB. However, the depressive-like phenotype of SUB males was not exacerbated in PCVS males; rather, they appeared to better cope with SUB status than NS SUB males. They had lower basal plasma corticosterone than NS SUB males at the end of VBS housing. In situ hybridization for CRH in the PVN and CeA did not reveal any prenatal treatment or status effects, while NPY expression was higher within the MeA of dominant and subordinate males exposed to the VBS in comparison with controls, but with no effect of prenatal treatment. These data suggest that prenatal chronic variable stress may confer resilience to offspring when exposed to social stress in adulthood. Copyright © 2017 Elsevier Inc. All rights reserved.

Psychological characteristics of the rules of subordination within the cultural and historical analysis

Directory of Open Access Journals (Sweden)

Budyakova T.P.,

2016-01-01

Full Text Available The article examines the psychology of submission. Given psychological characteristic standards of submission historically embodied in the moral codes and legal sources. The subject of analysis are historical regulations XII—XX centuries, the customs, in which the fixed rate of submission, as well as the memoir literature. There are four basic psychological lines of development in the history of the rules of subordination, in particular: a special regulation of the rules of subordination and increasing social importance of the role of subordinate. It is proved that psychological acceptance of a subordinate role and the satisfaction of its implementation includes the requirement of special rules regulating authority and emphasis on the social importance of the role of subordinate. It was established that one of the reasons that the job satisfaction of employees of state structures higher than employees of private companies, a large schema definition of relations with management. Hierarchical role is considered in terms of two components: the role of attributes and rules, rules of conduct. The article focuses on the fact that the individual external signs, locking status subordination, increase the level of self-esteem of subordinate.

Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

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Zhou Jianjin

2011-01-01

Full Text Available Abstract Background Aminoglycoside ototoxicity is one of the common health problems. Mitochondrial 12S rRNA mutations are one of the important causes of aminoglycoside ototoxicity. However, the incidences of 12S rRNA mutations associated with aminoglycoside ototoxicity are less known. Methods A total of 440 Chinese pediatric hearing-impaired subjects were recruited from two otology clinics in the Ningbo and Wenzhou cities of Zhejiang Province, China. These subjects underwent clinical, genetic evaluation and molecular analysis of mitochondrial 12S rRNA. Resultant mtDNA variants were evaluated by structural and phylogenetic analysis. Results The study samples consisted of 227 males and 213 females. The age of all participants ranged from 1 years old to 18 years, with the median age of 9 years. Ninety-eight subjects (58 males and 40 females had a history of exposure to aminoglycosides, accounting for 22.3% cases of hearing loss in this cohort. Molecular analysis of 12S rRNA gene identified 41 (39 known and 2 novel variants. The incidences of the known deafness-associated 1555A > G, 1494C > T and 1095T > C mutations were 7.5%, 0.45% and 0.91% in this entire hearing-impaired subjects, respectively, and 21.4%, 2% and 2% among 98 subjects with aminoglycoside ototoxicity, respectively. The structural and phylogenetic evaluations showed that a novel 747A > G variant and known 839A > G, 1027A > G, 1310C > T and 1413T > C variants conferred increased sensitivity to aminoglycosides or nonsyndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this rRNA. However, other variants were polymorphisms. Of 44 subjects carrying one of definite or putative deafness-related 12S rRNA variants, only one subject carrying the 1413T > C variant harbored the 235DelC/299DelAT mutations in the GJB2 gene, while none of mutations in GJB2 gene was detected in other 43 subjects. Conclusions Mutations in mitochondrial 12S r

The rs3857059 variant of the SNCA gene is associated with Parkinson’s disease in Mexican Mestizos

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S. García

2016-06-01

Full Text Available ABSTRACT Among the candidate genes for Parkinson’s disease (PD, SNCA has replicated association in different populations. Besides other known mutations in the SNCA gene, the rs3857059 variant has also been linked to various neurodegenerative disorders. Therefore, the aim of the present study was to search for association of this variant and sporadic PD in Mexican Mestizo patients. A case-control study was performed including 241 individuals, 106 patients, and 135 healthy controls. Genotyping was performed using real-time PCR. The rs3857059 variant demonstrated an association with PD in Mexican Mestizos (OR = 2.40, CI, 1.1 to 5.1, p = 0.02 under the recessive model. In addition, a gender effect was found for the GG genotype in females (OR = 1.31, CI, 1.01 to 1.7, p = 0.037. This is the first study to confirm an association of the rs3857059 variant with PD and also to show a gender effect. Our data contribute to the elucidation of the link between rs3857059 and susceptibility to PD observed in the Mexican Mestizo population.

Growth depression in socially subordinate rainbow trout Oncorhynchus mykiss: more than a fasting effect.

Science.gov (United States)

DiBattista, Joseph D; Levesque, Haude M; Moon, Thomas W; Gilmour, Kathleen M

2006-01-01

To assess the effects of subordinate social status on digestive function, metabolism, and enzyme activity in salmonid fish, juvenile rainbow trout Oncorhynchus mykiss were paired with size-matched conspecifics (digestive function reflects in large part a lack of feeding. Hepatic phosphoenolpyruvate carboxykinase activity was significantly higher in subordinate fish relative to dominants, whereas subordinate hepatic pyruvate kinase activity was significantly lower; activities of both enzymes were significantly correlated with plasma cortisol concentrations and behavior scores. Dominant-subordinate differences in the activities of these enzymes were eliminated by administration of the glucocorticoid receptor antagonist RU486, underlining a role for circulating cortisol in eliciting the differences. Significant increases relative to control fish were also detected in red and white muscles from subordinate fish in the activities of protein catabolic enzymes (aspartate aminotransferase, alanine aminotransferase, glutamate dehydrogenase). These differences occurred in the absence of any change in plasma free amino acid or ammonia concentrations, supporting an enhanced turnover of amino acids in muscle in subordinate fish. The results support the hypothesis that changes in metabolism, beyond those elicited by low food consumption, may be responsible at least in part for the low growth rates typical of subordinate fish and that these changes may be related specifically to circulating cortisol levels in subordinate fish.

Are pumas subordinate carnivores, and does it matter?

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L. Mark Elbroch

2018-01-01

Full Text Available Background Interspecific competition affects species fitness, community assemblages and structure, and the geographic distributions of species. Established dominance hierarchies among species mitigate the need for fighting and contribute to the realized niche for subordinate species. This is especially important for apex predators, many of which simultaneous contend with the costs of competition with more dominant species and the costs associated with human hunting and lethal management. Methods Pumas are a widespread solitary felid heavily regulated through hunting to reduce conflicts with livestock and people. Across their range, pumas overlap with six apex predators (gray wolf, grizzly bear, American black bear, jaguar, coyote, maned wolf, two of which (gray wolf, grizzly bear are currently expanding in North America following recovery efforts. We conducted a literature search to assess whether pumas were subordinate or dominant with sympatric apex predators, as well as with three felid mesocarnivores with similar ecology (ocelot, bobcat, Canada lynx. We also conducted an analysis of the spatial distributions of pumas and their dominant sympatric competitors to estimate in what part of their range, pumas are dominant versus subordinate. Results We used 64 sources to assess dominance among pumas and other apex predators, and 13 sources to assess their relationships with felid mesocarnivores. Evidence suggested that wolves, grizzly bears, black bears, and jaguars are dominant over pumas, but that pumas are dominant over coyotes and maned wolves. Evidence suggested that pumas are also dominant over all three felid mesocarnivores with which they share range. More broadly, pumas are subordinate to at least one other apex carnivore in 10,799,252 (47.5% of their 22,735,268 km2 range across North and South America. Discussion Subordinate pumas change their habitat use, suffer displacement at food sources, likely experience increased energetic demands

Are pumas subordinate carnivores, and does it matter?

Science.gov (United States)

Elbroch, L Mark; Kusler, Anna

2018-01-01

Interspecific competition affects species fitness, community assemblages and structure, and the geographic distributions of species. Established dominance hierarchies among species mitigate the need for fighting and contribute to the realized niche for subordinate species. This is especially important for apex predators, many of which simultaneous contend with the costs of competition with more dominant species and the costs associated with human hunting and lethal management. Pumas are a widespread solitary felid heavily regulated through hunting to reduce conflicts with livestock and people. Across their range, pumas overlap with six apex predators (gray wolf, grizzly bear, American black bear, jaguar, coyote, maned wolf), two of which (gray wolf, grizzly bear) are currently expanding in North America following recovery efforts. We conducted a literature search to assess whether pumas were subordinate or dominant with sympatric apex predators, as well as with three felid mesocarnivores with similar ecology (ocelot, bobcat, Canada lynx). We also conducted an analysis of the spatial distributions of pumas and their dominant sympatric competitors to estimate in what part of their range, pumas are dominant versus subordinate. We used 64 sources to assess dominance among pumas and other apex predators, and 13 sources to assess their relationships with felid mesocarnivores. Evidence suggested that wolves, grizzly bears, black bears, and jaguars are dominant over pumas, but that pumas are dominant over coyotes and maned wolves. Evidence suggested that pumas are also dominant over all three felid mesocarnivores with which they share range. More broadly, pumas are subordinate to at least one other apex carnivore in 10,799,252 (47.5%) of their 22,735,268 km 2 range across North and South America. Subordinate pumas change their habitat use, suffer displacement at food sources, likely experience increased energetic demands from harassment, exhibit increased starvation, and

Supervisory behavior, reciprocity and subordinate absenteeism

NARCIS (Netherlands)

Dierendonck, van D.; Blanc, Le P.M.; Breukelen, van W.

2002-01-01

The present study among 242 professionals working in a lung clinic and nursing home was designed to test a model that links supervisory behavior (i.e. leader member exchange (LMX) behavior and conflict management behavior) and reciprocity in the supervisor/subordinate relationship to objectively

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Science.gov (United States)

Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

2016-06-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Effects of People-oriented Leadership and Subordinate Employability on Call Center Withdrawal Behaviors

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Federico R. León

2018-03-01

Full Text Available Call-center employees are prone to lateness, absenteeism, and turnover because their jobs are low-wage, low-skill, and provoke high levels of stress. Thus, considerate supervisors achieve from them better performance and reduced turnover. This study tested in a Peruvian call center (N = 255 various hypotheses concerned with the effects of people-oriented leadership on withdrawal behaviors, their moderation by subordinate perceived employability, and the nature of the relationships between withdrawal behaviors. The evidence revealed independence of uncertified absenteeism from turnover intention, negative effects of people-oriented leadership on subordinate turnover intention regardless of subordinate level of employability, and leadership x employability crossover interactive effects on subordinate uncertified absenteeism. Since people-oriented supervision is associated with increased absenteeism among highly employable subordinates and decreased absenteeism among low-employability workers, the effects cancel each other. Thus, there is a need for understanding the underlying determinants as a pre-condition to deriving practical recommendations.

Culture shapes a mesolimbic response to signals of dominance and subordination that associates with behavior.

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Freeman, Jonathan B; Rule, Nicholas O; Adams, Reginald B; Ambady, Nalini

2009-08-01

It has long been understood that culture shapes individuals' behavior, but how this is accomplished in the human brain has remained largely unknown. To examine this, we made use of a well-established cross-cultural difference in behavior: American culture tends to reinforce dominant behavior whereas, conversely, Japanese culture tends to reinforce subordinate behavior. In 17 Americans and 17 Japanese individuals, we assessed behavioral tendencies towards dominance versus subordination and measured neural responses using fMRI during the passive viewing of stimuli related to dominance and subordination. In Americans, dominant stimuli selectively engaged the caudate nucleus, bilaterally, and the medial prefrontal cortex (mPFC), whereas these were selectively engaged by subordinate stimuli in Japanese. Correspondingly, Americans self-reported a tendency towards more dominant behavior whereas Japanese self-reported a tendency towards more subordinate behavior. Moreover, activity in the right caudate and mPFC correlated with behavioral tendencies towards dominance versus subordination, such that stronger responses in the caudate and mPFC to dominant stimuli were associated with more dominant behavior and stronger responses in the caudate and mPFC to subordinate stimuli were associated with more subordinate behavior. The findings provide a first demonstration that culture can flexibly shape functional activity in the mesolimbic reward system, which in turn may guide behavior.

Does main clause word order affect attention to change in subordinate clauses?

DEFF Research Database (Denmark)

Christensen, Marie Herget; Christensen, Tanya Karoli; Jensen, Torben Juel

2018-01-01

,and in the article we argue that this ‘Main Clause Phenomena’ (cf. Aelbrechtet al. 2012) functions as a foregroundingdevice, signaling that the more important information of the clause complex isto be found in the subordinate clause instead of in its matrix clause. Aprediction from the foregrounding hypothesis...... is that a subordinate clause withVerb>Adverb word order will attract more attention than a clause withAdverb>Verb word order. To test this, we conducted an experiment under the textchange paradigm. 59 students each read 24 constructions twice, each containinga subordinate clause with either Verb>Adverb or Adverb......>Verb word order.Half of the subordinate clauses were governed by a semifactive predicate (opento both word orders) and the other half by a semantically secondary sentence(in itself strongly favoring Verb>Adverb word order). Attention to thesubordinate clause was tested by measuring how disinclined...

Investigation of the role of interleukin-1 receptor antagonist VNTR variant on the Behçet’s disease

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Dursun, Gül; Demir, Helin Deniz; Karakuş, Nevin; Demir, Osman; Yiğit, Serbülent

2018-01-01

Objective Behçet’s disease (BD), a chronic multisystem inflammatory disorder, is mainly characterized by relapsing periods of a wide range of clinical symptoms. Several cytokine genes may play important roles in the pathogenesis of BD. Therefore, interleukin-1 receptor antagonist (IL-1Ra) gene 86bp variable number tandem repeat (VNTR) variant was investigated in patients with BD in a Turkish population. Methods One hundred nine patients (60 females, 49 males; the mean age±standard deviation [SD] was 36.56±9.571 years) with BD and one hundred healthy individuals (54 females, 46 males; the mean age±SD was 36.64±2.294 years) were examined in the study. For genotyping, polymerase chain reaction-restriction fragment length polymorphism analysis was employed. Data were analyzed using Statistical Package for Social Sciences (SPSS) 22.0 (IBM Corp.; Armonk, NY, USA) (p0.05). The frequency of the a1/a1, a1/a2 genotypes and a1, a2 alleles were the most common both in patients and healthy controls (p=0.37, p=0.26, and p=0.53, respectively). Also, no statistically significant difference was found between the IL-1Ra VNTR variant genotypes and clinical characteristics (p>0.05). Conclusion The results of this study do not support an association between the IL-1Ra VNTR variant and the risk of BD in a Turkish population. However, further studies of this variant with larger sample sizes and different ethnicities are required for confirmation. PMID:29657871

Subordination by convex functions

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Rosihan M. Ali

2006-01-01

Full Text Available For a fixed analytic function g(z=z+∑n=2∞gnzn defined on the open unit disk and γ<1, let Tg(γ denote the class of all analytic functions f(z=z+∑n=2∞anzn satisfying ∑n=2∞|angn|≤1−γ. For functions in Tg(γ, a subordination result is derived involving the convolution with a normalized convex function. Our result includes as special cases several earlier works.

Empowerment and performance of managers and subordinates in elderly care: A longitudinal and multilevel study.

Science.gov (United States)

Hagerman, Heidi; Högberg, Hans; Skytt, Bernice; Wadensten, Barbro; Engström, Maria

2017-11-01

To investigate relationships between first-line managers' ratings of structural and psychological empowerment, and the subordinates' ratings of structural empowerment, as well as their ratings of the managers' leadership-management performance. Work situations in elderly care are complex. To date, few studies have used a longitudinal, correlational and multilevel design to study the working life of subordinates and managers. In five Swedish municipalities, questionnaires were answered twice during 2010-12 by 56 first-line managers and 769 subordinates working in nursing homes or home-help services. First-line managers' empowerment at Time 1 partially predicted subordinate's structural empowerment and ratings of their managers' leadership-management performance at Time 2. Changes over time partially revealed that the more access managers had to structural empowerment, i.e. increase over time, the higher the ratings were for structural empowerment and managerial leadership-management performance among subordinates. Findings strengthen research and theoretical suggestions linking first-line managers' structural empowerment to their subordinates' structural empowerment and ratings of their manager's leadership-management performance. Managers with high access to structural empowerment are more likely to provide subordinates access to structural empowerment. © 2017 The Authors. Journal of Nursing Management Published by John Wiley & Sons Ltd.

Status-Dependent Vasotocin Modulation of Dominance and Subordination in the Weakly Electric Fish Gymnotus omarorum

Directory of Open Access Journals (Sweden)

Rossana Perrone

2018-01-01

Full Text Available Dominant-subordinate status emerges from agonistic encounters. The weakly electric fish, Gymnotus omarorum, displays a clear-cut example of non-breeding territorial aggression. The asymmetry in the behavior of dominants and subordinates is outstanding. Dominants are highly aggressive and subordinates signal submission in a precise sequence of locomotor and electric traits: retreating, decreasing their electric organ discharge rate, and emitting transient electric signals. The hypothalamic neuropeptide arginine-vasotocin (AVT and its mammalian homolog arginine-vasopressin, are key modulators of social behavior, known to adapt their actions to different contexts. By analyzing the effects of pharmacological manipulations of the AVT system in both dominants and subordinates, we show evidence of distinct status-dependent actions of AVT. We demonstrate an endogenous effect of AVT on dominants' aggression levels: blocking the V1a AVT receptor induced a significant decrease in dominants' attack rate. AVT administered to subordinates enhanced the expression of the electric signals of submission, without affecting subordinates' locomotor displays. This study contributes a clear example of status-dependent AVT modulation of agonistic behavior in teleosts, and reveals distinctive activation patterns of the AVT system between dominants and subordinates.

Status-Dependent Vasotocin Modulation of Dominance and Subordination in the Weakly Electric Fish Gymnotus omarorum.

Science.gov (United States)

Perrone, Rossana; Silva, Ana C

2018-01-01

Dominant-subordinate status emerges from agonistic encounters. The weakly electric fish, Gymnotus omarorum , displays a clear-cut example of non-breeding territorial aggression. The asymmetry in the behavior of dominants and subordinates is outstanding. Dominants are highly aggressive and subordinates signal submission in a precise sequence of locomotor and electric traits: retreating, decreasing their electric organ discharge rate, and emitting transient electric signals. The hypothalamic neuropeptide arginine-vasotocin (AVT) and its mammalian homolog arginine-vasopressin, are key modulators of social behavior, known to adapt their actions to different contexts. By analyzing the effects of pharmacological manipulations of the AVT system in both dominants and subordinates, we show evidence of distinct status-dependent actions of AVT. We demonstrate an endogenous effect of AVT on dominants' aggression levels: blocking the V1a AVT receptor induced a significant decrease in dominants' attack rate. AVT administered to subordinates enhanced the expression of the electric signals of submission, without affecting subordinates' locomotor displays. This study contributes a clear example of status-dependent AVT modulation of agonistic behavior in teleosts, and reveals distinctive activation patterns of the AVT system between dominants and subordinates.

Influence of APOE and RNF219 on Behavioral and Cognitive Features of Female Patients Affected by Mild Cognitive Impairment or Alzheimer’s Disease

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Alessandra Mosca

2018-04-01

Full Text Available The risk for Alzheimer’s disease (AD is associated with the presence of the 4 allele of Apolipoprotein E (APOE gene and, recently, with a novel genetic variant of the RNF219 gene. This study aimed at evaluating interactions between APOE-4 and RNF219/G variants in the modulation of behavioral and cognitive features of two cohorts of patients suffering from mild cognitive impairment (MCI or AD. We enrolled a total of 173 female MCI or AD patients (83 MCI; 90 AD. Subjects were screened with a comprehensive set of neuropsychological evaluations and genotyped for the APOE and RNF219 polymorphic variants. Analysis of covariance was performed to assess the main and interaction effects of APOE and RNF219 genotypes on the cognitive and behavioral scores. The analysis revealed that the simultaneous presence of APOE-4 and RNF219/G variants results in significant effects on specific neuropsychiatric scores in MCI and AD patients. In MCI patients, RNF219 and APOE variants worked together to impact the levels of anxiety negatively. Similarly, in AD patients, the RNF219 variants were found to be associated with increased anxiety levels. Our data indicate a novel synergistic activity APOE and RNF219 in the modulation of behavioral traits of female MCI and AD patients.

Effects of leader contingent and noncontingent reward and punishment behaviors on subordinate performance and satisfaction.

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Podsakoff, P M; Todor, W D; Skov, R

1982-12-01

This study investigated the nature of the relationships between leader reward and punishment behaviors and subordinate performance and satisfaction. Only performance-contingent reward behavior was found to affect subordinate performance significantly. Positive relationships were found between leader contingent reward behavior and employee satisfaction. Contingent punishment had no effects on subordinate performance or satisfaction.

[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

Science.gov (United States)

Romero-Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila M, Lorena; Casas-Gómez, María Consuelo; Briceño Balcázar, Ignacio

2015-10-01

Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

Translating Genius: The Importance Of The Relationship Between Military Geniuses And A Key - Subordinate

Science.gov (United States)

2014-04-01

TRANSLATING GENIUS ..................................................................................................1 Introduction ...applicable lessons for a large number of leader to subordinate relationships throughout the sphere of military affairs. TRANSLATING GENIUS Introduction ...a tranquil source, but a flurious torrent, because an overflowing enthusiasm animates it.”1 Voltaire’s description of Shakespeare provides a glimpse

The role of leadership perception as a mediator between managers' self-monitoring and subordinate attitudes.

Science.gov (United States)

Özalp Türetgen, Ilknur; Unsal, Pinar; Dural, Uzay

2017-01-01

Although the role of social cognition in leadership perception has been emphasized frequently in recent years, research using this approach in an organizational context is rare. This study investigated subordinates' perceptions of their managers as leaders (that is, to what extent they perceive their manager as a leader) as a potential mediating factor explaining the relationship between managers' self-monitoring and their subordinates' attitudes toward their organizations. The study was carried out with middle-level managers (N = 64) and their subordinates (N = 210) from various business organizations in Turkey. Results indicate that subordinates' leadership perceptions of their managers mediate the relationship between managers' self-monitoring and their subordinates' affective and normative organizational commitment. These results provide insight into some of the antecedents and outcomes of leadership perception.

Health care managers learning by listening to subordinates' dialogue training.

Science.gov (United States)

Grill, C; Ahlborg, G; Wikström, E

2014-01-01

Middle managers in health care today are expected to continuously and efficiently decide and act in administration, finance, care quality, and work environment, and strategic communication has become paramount. Since dialogical communication is considered to promote a healthy work environment, the purpose of this paper is to investigate the ways in which health care managers experienced observing subordinates' dialogue training. A qualitative study using semi-structured interviews and documents from eight middle managers in a dialogue programme intervention conducted by dialogue trainers. Focus was on fostering and assisting workplace dialogue. Conventional qualitative content analysis was used. Managers' experiences were both enriching and demanding, and consisted of becoming aware of communication, meaning perceiving interaction between subordinates as well as own silent interaction with subordinates and trainer; Discovering communicative actions for leadership, by gaining self-knowledge and recognizing relational leadership models from trainers--such as acting democratically and pedagogically--and converting theory into practice, signifying practising dialogue-promoting conversation behaviour with subordinates, peers, and superiors. Only eight managers participated in the intervention, but data afforded a basis for further research. Findings stressed the importance of listening, and of support from superiors, for well-functioning leadership communication at work. Studies focusing on health care managers' communication and dialogue are few. This study contributes to knowledge about these activities in managerial leadership.

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

Science.gov (United States)

Jesús, Silvia; Huertas, Ismael; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

2016-01-01

The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson’s disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson’s patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants. PMID:28030538

Creative leaders create 'unsung heroes':leader creativity and subordinate organizational citizenship behavior

Institute of Scientific and Technical Information of China (English)

Xiao Deng; Zhishuang Guan

2017-01-01

As leader creativity is found to be effective at promoting outcomes for organizations,more and more organizations select creative individuals as leaders.However,the influence of leader creativity has not received enough attention.Thus,this research seeks to focus on the potential influences of leader creativity in organizations.Based on social cognitive theory,we explore the relationship between leader creativity and subordinate organizational citizenship behavior (OCB).We find that leader creativity is positively related to subordinate OCB,and perceived team creative efficacy mediates the relationship.Moreover,creative self-efficacy moderates the relationships between perceived team creative efficacy and subordinate OCB.We then discuss implications and limitations,and suggest directions for future research.

Patriarchal Hierarchies of Power and the Subordination of Women: Real Doll as a Replacement of Woman Figure

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Natasha Shokri

2015-08-01

Full Text Available The social structure of the family has always been in the state of transformation. In the past centuries, the nuclear family was replaced with a Patriarchal Family which lasted for only two centuries from 16th to the beginning of 18th century. In this new structure of the family, men were privileged to play the role of the master and the women were marginalized and subordinated. Recent years, however, has witnessed a re-adjustment of this order towards a more equal distribution of power relations. These changes in family structure has ever since initiated new conflicts leading to establishment of the physical and psychological bonds between men and dolls. The present study aims to find out the major socio-psychological reasons behind this conflict. In a qualitative library based study, the researchers attempt to analyse the video interview of some of the doll-owners. In the survey conducted in this study, the video of “Guys and Dolls”, BBC Video Documentary, has been shown to 10 participants, five male and five female. Then, a questionnaire was distributed to ask for their opinion based on their gender. The findings of this analysis reveal that women can hardly accept the notion of using dolls as replacement to real partners in comparison with men. On the contrary, the male participants advocated the employment of dolls as sexual replacement for the real woman figure. Keywords: Patriarchy, Real Doll, Oedipus complex, Female Subordination, Family

Dominance rank and self-scratching among wild female Barbary ...

African Journals Online (AJOL)

scratching rates over the study period, with subordinates showing higher rates of self-scratching. Analysis of temporal variation in females' self-scratching rates indicated that while these rates were related to measures of both grooming and aggression, ...

Proposal and Evaluation of Subordinate Standard Solar Irradiance Spectra: Preprint

Energy Technology Data Exchange (ETDEWEB)

Habte, Aron M [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Wilbert, Stefan [German Aerospace Center (DLR); Jessen, Wilko [German Aerospace Center (DLR); Gueymard, Chris [Solar Consulting Services; Polo, Jesus [CIEMAT; Bian, Zeqiang [China Meteorological Administration; Driesse, Anton [Photovoltaic Performance Labs; Marzo, Aitor [University of Antofagasta; Armstrong, Peter [Masdar Institute of Science & Technology; Vignola, Frank [University of Oregon; Ramirez, Lourdes [CIEMAT

2018-04-12

This paper introduces a concept for global tilted irradiance (GTI) subordinate standard spectra to supplement the current standard spectra used in solar photovoltaic applications as defined in ASTM G173 and IEC60904. The proposed subordinate standard spectra correspond to atmospheric conditions and tilt angles that depart significantly from the main standard spectrum, and they can be used to more accurately represent various local conditions. For the definition of subordinate standard spectra cases with an elevation 1.5 km above sea level, the question arises whether the air mass should be calculated including a pressure correction or not. This study focuses on the impact of air mass used in standard spectra, and it uses data from 29 locations to examine which air mass is most appropriate for GTI and direct normal irradiance (DNI) spectra. Overall, it is found that the pressure-corrected air mass of 1.5 is most appropriate for DNI spectra. For GTI, a non-pressure-corrected air mass of 1.5 was found to be more appropriate.

Social power, conflict policing, and the role of subordination signals in rhesus macaque society.

Science.gov (United States)

Beisner, Brianne A; Hannibal, Darcy L; Finn, Kelly R; Fushing, Hsieh; McCowan, Brenda

2016-05-01

Policing is a conflict-limiting mechanism observed in many primate species. It is thought to require a skewed distribution of social power for some individuals to have sufficiently high social power to stop others' fights, yet social power has not been examined in most species with policing behavior. We examined networks of subordination signals as a source of social power that permits policing behavior in rhesus macaques. For each of seven captive groups of rhesus macaques, we (a) examined the structure of subordination signal networks and used GLMs to examine the relationship between (b) pairwise dominance certainty and subordination network pathways and (c) policing frequency and social power (group-level convergence in subordination signaling pathways). Networks of subordination signals had perfect linear transitivity, and pairs connected by both direct and indirect pathways of signals had more certain dominance relationships than pairs with no such network connection. Social power calculated using both direct and indirect network pathways showed a heavy-tailed distribution and positively predicted conflict policing. Our results empirically substantiate that subordination signaling is associated with greater dominance relationship certainty and further show that pairs who signal rarely (or not at all) may use information from others' signaling interactions to infer or reaffirm the relative certainty of their own relationships. We argue that the network of formal dominance relationships is central to societal stability because it is important for relationship stability and also supports the additional stabilizing mechanism of policing. © 2016 Wiley Periodicals, Inc.

Gender subordination in the vulnerability of women to domestic violence.

Science.gov (United States)

Macedo Piosiadlo, Laura Christina; Godoy Serpa da Fonseca, Rosa Maria

2016-06-01

To create and validate an instrument that identifies women's vulnerability to domestic violence through gender subordination indicators in the family. An instrument consisting on 61 phrases was created, that indicates gender subordination in the family. After the assessment from ten judges, 34 phrases were validated. The approved version was administered to 321 health service users of São José dos Pinhais (Estado de Paraná, Brasil), along with the validated Portuguese version of the Abuse Assessment Screen (AAS) (for purposes of separating the sample group - the ''YES'' group was composed of women who have suffered violence and the ''NO'' group consisted of women who had not suffered violence). Data were transferred into the Statistical Package for the Social Sciences (SPSS) software, version 22, and quantitatively analyzed using exploratory and factor analysis, and tests for internal consistency. After analysis (Kaiser-Meyer-Olkin (KMO) statistics, Monte Carlo Principal Components Analysis (PCA, and diagram segmentation), two factors were identified: F1 - consisting of phrases related to home maintenance and family structure; F2 - phrases intrinsic to the couple's relationship. For the statements that reinforce gender subordination, the mean of the factors were higher for the group that answered YES to one of the violence identifying issues. The created instrument was able to identify women who were vulnerable to domestic violence using gender subordination indicators. This could be an important tool for nurses and other professionals in multidisciplinary teams, in order to organize and plan actions to prevent violence against women.

Gender subordination in the vulnerability of women to domestic violence

Directory of Open Access Journals (Sweden)

Laura Christina Macedo Piosiadlo

Full Text Available Objective.To create and validate an instrument that identifies women's vulnerability to domestic violence through gender subordination indicators in the family. Methods. An instrument consisting on 61 phrases was created, that indicates gender subordination in the family. After the assessment from ten judges, 34 phrases were validated. The approved version was administered to 321 health service users of São José dos Pinhais (Estado de Paraná, Brasil, along with the validated Portuguese version of the Abuse Assessment Screen (AAS (for purposes of separating the sample group - the ''YES'' group was composed of women who have suffered violence and the ''NO'' group consisted of women who had not suffered violence. Data were transferred into the Statistical Package for the Social Sciences (SPSS software, version 22, and quantitatively analyzed using exploratory and factor analysis, and tests for internal consistency. Results. After analysis (Kaiser-Meyer-Olkin (KMO statistics, Monte Carlo Principal Components Analysis (PCA, and diagram segmentation, two factors were identified: F1 - consisting of phrases related to home maintenance and family structure; F2 - phrases intrinsic to the couple's relationship. For the statements that reinforce gender subordination, the mean of the factors were higher for the group that answered YES to one of the violence identifying issues. Conclusions. The created instrument was able to identify women who were vulnerable to domestic violence using gender subordination indicators. This could be an important tool for nurses and other professionals in multidisciplinary teams, in order to organize and plan actions to prevent violence against women.

State liberalism, female supervisors, and the gender wage gap.

Science.gov (United States)

Maume, David J; Ruppanner, Leah

2015-03-01

Whereas some are concerned that the gender revolution has stalled, others note the rapid increase in women's representation in the ranks of management, and the reduction of wage inequality in larger and more active welfare states. Although these latter trends portend an attenuation of gender inequality, their effects on the gender pay gap in the U.S. are understudied due to data limitations, or to the assumption that in the U.S. pay is determined by market forces. In this study we extend research on the determinants of the gender wage gap by examining sex-of-supervisor effects on subordinates' pay, and to what degree the state's commitment to equality conditions this relationship. We pooled the 1997 and 2002 National Study of the Changing Workforce surveys to estimate hierarchical models of reporting to a female supervisor and wages, with theoretically important predictors at the individual level, and at the state of residence (an index composed of women's share of legislators, a measure of the liberal leanings of the state, and the size of the public sector relative to the labor force). We found that state effects on pay were mixed, with pay generally rising with state liberalism on the one hand. On the other hand, working for a female boss significantly reduced wages. We discussed the theoretical implications of our results, as well as the need for further study of the career effects on subordinates as women increasingly enter the ranks of management. Copyright © 2014 Elsevier Inc. All rights reserved.

Two-time scale subordination in physical processes with long-term memory

International Nuclear Information System (INIS)

Stanislavsky, Aleksander; Weron, Karina

2008-01-01

We describe dynamical processes in continuous media with a long-term memory. Our consideration is based on a stochastic subordination idea and concerns two physical examples in detail. First we study a temporal evolution of the species concentration in a trapping reaction in which a diffusing reactant is surrounded by a sea of randomly moving traps. The analysis uses the random-variable formalism of anomalous diffusive processes. We find that the empirical trapping-reaction law, according to which the reactant concentration decreases in time as a product of an exponential and a stretched exponential function, can be explained by a two-time scale subordination of random processes. Another example is connected with a state equation for continuous media with memory. If the pressure and the density of a medium are subordinated in two different random processes, then the ordinary state equation becomes fractional with two-time scales. This allows one to arrive at the Bagley-Torvik type of state equation

Unusual variant of Cantrell′s pentalogy?

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Kumar Basant

2008-01-01

Full Text Available A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell′s pentalogy?

The imposition of, but not the propensity for, social subordination impairs exploratory behaviors and general cognitive abilities.

Science.gov (United States)

Colas-Zelin, Danielle; Light, Kenneth R; Kolata, Stefan; Wass, Christopher; Denman-Brice, Alexander; Rios, Christopher; Szalk, Kris; Matzel, Louis D

2012-06-15

Imposed social subordination, such as that which accompanies physical defeat or alienation, has been associated with impaired cognitive function in both human and non-human animals. Here we examined whether domain-specific and/or domain-general learning abilities (c.f. general intelligence) are differentially influenced by the imposition of social subordination. Furthermore, we assessed whether the impact of subordination on cognitive abilities was the result of imposed subordination per se, or if it reflected deficits intrinsically expressed in subjects that are predisposed to subordination. Subordinate and dominant behaviors were assessed in two groups of CD-1 male mice. In one group (Imposed Stratification), social stratification was imposed (through persistent physical defeat in a colonized setting) prior to the determination of cognitive abilities, while in the second group (Innate Stratification), an assessment of social stratification was made after cognitive abilities had been quantified. Domain-specific learning abilities were measured as performance on individual learning tasks (odor discrimination, fear conditioning, spatial maze learning, passive avoidance, and egocentric navigation) while domain-general learning abilities were determined by subjects' aggregate performance across the battery of learning tasks. We observed that the imposition of subordination prior to cognitive testing decreased exploratory tendencies, moderately impaired performance on individual learning tasks, and severely impaired general cognitive performance. However, similar impairments were not observed in subjects with a predisposition toward a subordinate phenotype (but which had not experienced physical defeat at the time of cognitive testing). Mere colonization, regardless of outcome (i.e., stratification), was associated with an increase in stress-induced serum corticosterone (CORT) levels, and thus CORT elevations were not themselves adequate to explain the effects of

Small changes in meal patterns lead to significant changes in total caloric intake. Effects of diet and social status on food intake in female rhesus monkeys.

Science.gov (United States)

Moore, Carla J; Lowe, Jonathan; Michopoulos, Vasiliki; Ulam, Patrick; Toufexis, Donna; Wilson, Mark E; Johnson, Zachary

2013-03-01

Social subordination in macaques is a well-established model to study the adverse effects of psychosocial stress on a number of health outcomes, including stress-induced eating. The present analysis was conducted to empirically define a meal among free-feeding female rhesus monkeys and to examine the roles of meal patterning (e.g., meal size, meal frequency, and snacking patterns) in findings from a previous study demonstrating that psychosocial stress increases overall caloric intake among subordinate animals with access to a highly palatable diet. Results indicate that all animals, regardless of social status, consumed more frequent meals, larger meals, and more calories in the form of snacks when a highly palatable diet was available. Additional findings suggest that subordinate animals consumed significantly larger meals compared to their dominant counterparts regardless of the dietary environment. Additionally, subordinate females with a history of exposure to the palatable diet consumed significantly more snack calories than both dominant and subordinate animals without previous exposure to the palatable diet when these females were returned to a standard laboratory diet. These findings illustrate how small changes in meal patterns can lead to significant increases in total caloric intake, which if prolonged, could promote the emergence of an obese phenotype. Copyright © 2012 Elsevier Ltd. All rights reserved.

Abusive Supervision and Subordinate Performance : Instrumentality Considerations in the Emergence and Consequences of Abusive Supervision

NARCIS (Netherlands)

Walter, Frank; Lam, Catherine K.; van der Vegt, Geert; Huang, X.; Miao, Q.

Drawing from moral exclusion theory, this article examines outcome dependence and interpersonal liking as key boundary conditions for the linkage between perceived subordinate performance and abusive supervision. Moreover, it investigates the role of abusive supervision for subordinates' subsequent,

Incidence and biomarkers of pregnancy, spontaneous abortion, and neonatal loss during an environmental stressor: Implications for female reproductive suppression in the cooperatively breeding meerkat.

Science.gov (United States)

Dimac-Stohl, Kristin A; Davies, Charli S; Grebe, Nicholas M; Stonehill, Alexandra C; Greene, Lydia K; Mitchell, Jessica; Clutton-Brock, Tim; Drea, Christine M

2018-05-02

Meerkats are group-living, insectivorous herpestids in which subordinate members provide extensive care for the dominant female's young. In contrast to some cooperative breeders, subordinate female meerkats are physiologically able to reproduce and occasionally do so successfully; their attempts are more frequently 'suppressed' via eviction or infanticide by the dominant female. Spontaneous abortion and neonatal loss occur with some regularity, further negatively impacting reproductive success. Here, we compared the reproductive outcomes and endocrine profiles, including of serum progesterone (P 4 ), serum estradiol (E 2 ), and fecal glucocorticoid metabolites (fGCm), of dominant and subordinate dams residing within their clans in the Kalahari Desert of South Africa. Our study spanned years of drought, which reduced insect abundance and represented a substantial environmental stressor. Meerkat pregnancies were identified at mid-term and culminated either in spontaneous abortions or full-term deliveries, after which pups were either lost prior to emergence from the natal den (usually within 2days of birth) or emerged at 2-3weeks. Neonatal loss exceeded fetal loss for all females, and contributed to narrowing the status-related disparity in female reproductive output seen during less arid periods. Although E 2 concentrations were significantly lower in subordinate than dominant females, they were sufficient to support gestation. Absolute E 2 concentrations may owe to androgenic precursors that also attain highest concentrations in dominant dams and may mediate aggression underlying female reproductive skew. Pregnancies terminating in fetal loss were marked by significantly lower P 4 concentrations in mid-gestation and modestly lower E 2 concentrations overall. Consistently high fGCm concentrations further increased across trimesters, particularly (but not consistently) in subordinates and in aborted pregnancies. Environmental stressors may modulate reproductive

Rehabilitation Agency Leadership Style: Impact on Subordinates' Job Satisfaction.

Science.gov (United States)

Packard, Susan H.; Kauppi, Dwight R.

1999-01-01

One hundred five rehabilitation employees were surveyed on the effect of leadership style on subordinates' perceptions of their work environment and on their job satisfaction. Findings suggest that leadership style affects service delivery. (Author/MKA)

Correlation of morphological variants of the soft palate and Need's ratio in normal individuals: A digital cephalometric study

Energy Technology Data Exchange (ETDEWEB)

Verma, Pradhuman; Verma, Kanika Gupta; Sachdeva, Suresh K; Juneja, Suruchi [Surendera Dental College and Research Institute, Sriganganagar (India); Kumaraswam; Kikkeri Lakshminarayana [Dept. of Oral Pathology and Microbiology, Farooqia Dental College, Mysore (India); Basavaraju, Suman [Dept. of Periodontics, J.S.S Dental College, Mysore (India)

2014-09-15

The present study was aimed to investigate the variation of soft palate morphology in different age and gender groups. The correlations of radiographic velar length (VL), velar width (VW), pharyngeal depth (PD), and Need's ratio with soft palate variants were also studied in the North Indian subpopulation. The study sample consisted of 300 subjects aged between 15 and 45 (mean: 31.32) years. The velar morphology on lateral cephalograms was examined and grouped into six types. The results obtained were subjected to a statistical analysis to find the correlation between variants of the soft palate with gender and different age groups. The most frequent type of soft palate was leaf shaped (48.7%), and the least common was crook shaped (3.0%) among both the genders and various age groups, showing a significant correlation. The mean VL, VW, and PD values were significantly higher in males and significantly correlated with the types of soft palate. A significant correlation was observed between the mean VL, VW, PD, and Need's ratio with various age groups, showing an inconsistent pattern with an increase in age. The types of soft palate, gender, and Need's ratio were also significantly correlated, with an overall higher mean value of the Need's ratio among female subjects and the S-shaped soft palate. The knowledge of a varied spectrum of velar morphology and the variants of the soft palate help in a better understanding of the velopharyngeal closure and craniofacial anomalies.

From Ambiguity to Deceptiveness: the Case of Hybrid since- Subordinates in English

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Bénédicte GUILLAUME

2012-03-01

Full Text Available Lorsqu’il est utilisé en tant que subordonnant, since peut introduire une subordonnée circonstancielle de temps ou bien de cause. Cet article s’intéresse aux cas dans lesquels une telle polysémie au niveau du subordonnant déclenche une ambiguïté quant à la nature temporelle ou causale de l’utilisation de la subordonnée. En plus du recours au contexte endophorique ou exophorique, nous proposons des critères syntaxiques de désambigüisation, mis au jour grâce à l’étude d’un corpus de près de cinq cent exemples pris dans le British National Corpus, un corpus d’anglais contemporain de cent millions de mots. En dépit de tout cela, une petite minorité d’exemples reste inclassable, remplissant ainsi les conditions pour être considérés comme « hybrides » en fonction de la définition que nous en proposons, à savoir des subordonnées permettant de remettre en cause la division traditionnelle entre les catégories de subordonnées en anglais, dans la mesure où ils possèdent au moins une caractéristique déviante par rapport à la catégorie à laquelle ils semblent appartenir en fonction de tous leurs autres traits. De tels phénomènes rendent nécessaires la prise en compte d’un « reste », selon la terminologie de Jean-Jacques Lecercle, dans la grammaire d’une langue donnée.When since is used as a subordinator,it can introduce either a temporal adverbial clause or a causal one. My purpose in this paper is to study cases in which such a polysemy at the level of the subordinator results in the production of subordinates whose meaning proves to be ambiguous between the categories of time and cause. In addition to the taking into account of the context, whether exophoric or endophoric, I put forward a series of syntactic criteria which should help disambiguate between the two possible interpretations. These are based on the study of the characteristics of nearly five-hundred examples of since- clauses taken

Prevalência de talassemias e hemoglobinas variantes no estado de Goiás, Brasil Prevalence of thalassemias and variant hemoglobins in the state of Goiás, Brazil

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Paulo Roberto de Melo-Reis

2006-12-01

Full Text Available As anemias hereditárias, em especial as talassemias e hemoglobinas (Hb variantes, são as mais comuns das alterações genéticas humanas; sua freqüência na população brasileira é muito variável, dependendo dos grupos raciais formadores de cada região. O povoamento de Goiás, que teve início logo após o seu descobrimento, em 1726, motivado pela procura de ouro, foi composto principalmente por portugueses e escravos africanos, contexto que favoreceu a mestiçagem entre eles. Considerando que esses povos apresentam genes para as hemoglobinas anormais com freqüências variadas, é esperado que se encontrem essas alterações genéticas na nossa população. O objetivo deste trabalho foi avaliar a prevalência de talassemias e hemoglobinas variantes na população de Goiás. Para isso a casuística foi composta por 404 alunos participantes dos diversos cursos da Universidade Católica de Goiás (UCG, oriundos de 55 cidades do estado de Goiás. A prevalência de anemia hereditária por talassemias e hemoglobinas variantes em Goiás foi de 10,1%, cuja ordem decrescente foi a seguinte: talassemia alfa heterozigótica (5,2%, heterozigose para hemoglobina S (Hb AS (2,2%, heterozigose para hemoglobina C (Hb AC (1%, talassemia beta menor (0,7%, associação entre talassemia alfa e heterozigose para Hb S (0,5%, associação entre talassemia alfa e heterozigose para Hb C (0,3% e heterozigose para hemoglobina D (Hb AD (0,3%. Nenhum caso de homozigose foi encontrado no presente estudo. Este trabalho demonstrou a dispersão dos genes para Hb S, Hb C e Hb D, bem como de talassemias alfa e beta em uma população do estado de Goiás. Por essa razão, concluímos que é importante realizar programas com maior abrangência da população para estudo da epidemiologia das talassemias e hemoglobinas variantes no estado de Goiás.The hereditary anemias, especially the thalassemies and hemoglobinopathies are the most common human genetic abnormalities. Their

Chronic subordination stress induces hyperphagia and disrupts eating behavior in mice modeling binge-eating-like disorder

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Maria eRazzoli

2015-01-01

Full Text Available Background: Eating disorders are associated with physical morbidity and appear to have causal factors like stressful life events and negative affect. Binge eating disorder (BED is characterized by eating in a discrete period of time a larger than normal amount of food, a sense of lack of control over eating, and marked distress. There are still unmet needs for the identification of mechanisms regulating excessive eating, which is in part due to the lack of appropriate animal models. We developed a naturalistic murine model of subordination stress induced hyperphagia associated with the development of obesity. Here we tested the hypotheses that the eating responses of subordinate mice recapitulate the BED and that limiting hyperphagia could prevent stress-associated metabolic changes. Methods: Adult male mice were exposed to a model of chronic subordination stress associated with the automated acquisition of food intake and we performed a detailed meal pattern analysis. Additionally, using a pair-feeding protocol was test the hypothesis that the manifestation of obesity and the metabolic syndrome could be prevented by limiting hyperphagia. Results: The architecture of feeding of subordinate mice was disrupted during the stress protocol due to disproportionate amount of food ingested at higher rate and with shorter satiety ratio than control mice. Subordinate mice hyperphagia was further exacerbated in response to either hunger or to the acute application of a social defeat. Notably, the obese phenotype but not the fasting hyperglycemia of subordinate mice was abrogated by preventing hyperphagia in a pair feeding paradigm. Conclusion: Overall these results support the validity of our chronic subordination stress to model binge eating disorder allowing for the determination of the underlying molecular mechanisms and the generation of testable predictions for innovative therapies, based on the understanding of the regulation and the control of food

12 CFR 563.81 - Inclusion of subordinated debt securities and mandatorily redeemable preferred stock as...

Science.gov (United States)

2010-01-01

... 12 Banks and Banking 5 2010-01-01 2010-01-01 false Inclusion of subordinated debt securities and... Borrowings § 563.81 Inclusion of subordinated debt securities and mandatorily redeemable preferred stock as..., subpart A seeking OTS approval of, or non-objection to, the inclusion of covered securities in...

5 CFR 6701.102 - Prohibition on solicited sales to subordinates.

Science.gov (United States)

2010-01-01

... solicited sales to subordinates. A GSA employee shall not engage in solicitation of sales, on or off duty... to, solicitation for the sale of insurance, stock, mutual funds, real estate, computer equipment and...

How supervisors' reminders relate to subordinates' absorption and creativity

NARCIS (Netherlands)

Gevers, J.M.P.; Demerouti, E.

2013-01-01

Purpose – This study aims to examine supervisors' temporal reminders and subordinates' pacing style as they relate to employees' absorption in work tasks, and subsequently creativity. Design/methodology/approach – The study involved a weekly diary study among 32 employees of an IT-development

A Study of Relationship between Leader Behaviors and Subordinate Job Expectancies: A Path-Goal Approach

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Sikandar Hayyat Malik

2012-12-01

Full Text Available This study investigates relationship between leader behavior (directive, supportive, participative and achievement-oriented of corporate managers and subordinates’ job expectancies using House (1974 Path-goal model of leadership. The results reveal thatleader behavior affects subordinates’ job expectancies. The situational factors (task structure, role ambiguity, stress, need for autonomy, locus of control, need for achievement and perception about abilities affect subordinates’ job expectancies (I&II.While subordinates’ attributes/characteristics (age, gender, qualification, rank, experience and length of service under the current supervisor do not affect job expectancies (I&II except for rank/position and expectancy-II. Path goal theory predicts that directive leader behavior will be more effective for the subordinates with high need for achievement because directive leader through clarifying path guides subordinates. Similarly, participative leader behavior is also effective as heconsults with subordinates in setting, clarifying and achieving goals. The results of this study reveal that there is an inverse relationship between subordinates’ job expectancy (I&II. According to Yukl (2006, for subordinates with high need for autonomy,participative leader behavior will increase the intrinsic valence of work.

Mapping of Epitopes Occurring in Bovine α(s1)-Casein Variants by Peptide Microarray Immunoassay.

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Lisson, Maria; Erhardt, Georg

2016-01-01

Immunoglobulin E epitope mapping of milk proteins reveals important information about their immunologic properties. Genetic variants of αS1-casein, one of the major allergens in bovine milk, are until now not considered when discussing the allergenic potential. Here we describe the complete procedure to assess the allergenicity of αS1-casein variants B and C, which are frequent in most breeds, starting from milk with identification and purification of casein variants by isoelectric focusing (IEF) and anion-exchange chromatography, followed by in vitro gastrointestinal digestion of the casein variants, identification of the resulting peptides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS), in silico analysis of the variant-specific peptides as allergenic epitopes, and determination of their IgE-binding properties by microarray immunoassay with cow's milk allergic human sera.

G2S: A web-service for annotating genomic variants on 3D protein structures.

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Wang, Juexin; Sheridan, Robert; Sumer, S Onur; Schultz, Nikolaus; Xu, Dong; Gao, Jianjiong

2018-01-27

Accurately mapping and annotating genomic locations on 3D protein structures is a key step in structure-based analysis of genomic variants detected by recent large-scale sequencing efforts. There are several mapping resources currently available, but none of them provides a web API (Application Programming Interface) that support programmatic access. We present G2S, a real-time web API that provides automated mapping of genomic variants on 3D protein structures. G2S can align genomic locations of variants, protein locations, or protein sequences to protein structures and retrieve the mapped residues from structures. G2S API uses REST-inspired design conception and it can be used by various clients such as web browsers, command terminals, programming languages and other bioinformatics tools for bringing 3D structures into genomic variant analysis. The webserver and source codes are freely available at https://g2s.genomenexus.org. g2s@genomenexus.org. Supplementary data are available at Bioinformatics online. © The Author (2018). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Karl Barth’s male-female order: A kingpin of dogmatic disparity

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Yolanda Dreyer

2007-05-01

Full Text Available Karl Barth’s gender perspective is often analysed with reference to his so-called “theoethics” or “creational theology”. This perspective perpetuates an asymmetry in gender relations that was prevalent in Biblical times, throughout Christianity and to some extent still is visible today. He based his view on the subordination of women on an exegesis of Genesis 1:27 as “intertext” of Ephesians 5:22-23. Barth’s asymmetrical gender perspective is a product of his embedment in Western Christian tradition which in turn, is rooted in early Christian patriarchal theology. The aim of this article is to focus on Barth’s ontological reframing of the traditional understanding of the Biblical notion of human beings as created in the “image of God”. The article consists of four sections: (a Luther’s and Calvin’s gender perspectives; (b the Enlightenment failure to achieve emancipation; (c gender disparity in Reformed theology; and (d a feminist alternative.

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

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DesRoches, Caro-Lyne; Patel, Jaina; Wang, Peixiang; Minassian, Berge; Salomons, Gajja S; Marshall, Christian R; Mercimek-Mahmutoglu, Saadet

2015-07-10

Creatine transporter deficiency (CRTR-D) is an X-linked inherited disorder of creatine transport. All males and about 50% of females have intellectual disability or cognitive dysfunction. Creatine deficiency on brain proton magnetic resonance spectroscopy and elevated urinary creatine to creatinine ratio are important biomarkers. Mutations in the SLC6A8 gene occur de novo in 30% of males. Despite reports of high prevalence of CRTR-D in males with intellectual disability, there are no true prevalence studies in the general population. To determine carrier frequency of CRTR-D in the general population we studied the variants in the SLC6A8 gene reported in the Exome Variant Server database and performed functional characterization of missense variants. We also analyzed synonymous and intronic variants for their predicted pathogenicity using in silico analysis tools. Nine missense variants were functionally analyzed using transient transfection by site-directed mutagenesis with In-Fusion HD Cloning in HeLa cells. Creatine uptake was measured by liquid chromatography tandem mass spectrometry for creatine measurement. The c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells and was classified as pathogenic. Three variants (c.808G>A; p.Val270Met, c.942C>G; p.Phe314Leu and c.952G>A; p.Ala318Thr) were predicted to be pathogenic based on in silico analysis, but proved to be non-pathogenic by our functional analysis. The estimated carrier frequency of CRTR-D was 0.024% in females in the general population. We recommend functional studies for all novel missense variants by transient transfection followed by creatine uptake measurement by liquid chromatography tandem mass spectrometry as fast and cost effective method for the functional analysis of missense variants in the SLC6A8 gene. Crown Copyright © 2015. Published by Elsevier B.V. All rights reserved.

Three types of preS1 start codon deletion variants in the natural course of chronic hepatitis B infection.

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Choe, Won Hyeok; Kim, Hong; Lee, So-Young; Choi, Yu-Min; Kwon, So Young; Moon, Hee Won; Hur, Mina; Kim, Bum-Joon

2017-12-12

Naturally occurring hepatitis B virus variants carrying a deletion in the preS1 start codon region may evolve during long-lasting virus-host interactions in chronic hepatitis B (CHB). The aim of this study was to determine the immune phase-specific prevalent patterns of preS1 start codon deletion variants and related factors during the natural course of CHB. A total of 399 CHB patients were enrolled. Genotypic analysis of three different preS1 start codon deletion variants (classified by deletion size: 15-base pair [bp], 18-bp, and 21-bp deletion variants) was performed. PreS1 start codon deletion variants were detected in 155 of 399 patients (38.8%). The predominant variant was a 15-bp deletion in the immune-tolerance phase (18/50, 36%) and an 18-bp deletion in the immune-clearance phase (69/183, 37.7%). A 21-bp deletion was the predominant variant in the low replicative phase (3/25, 12.0%) and reactivated hepatitis Be antigen (HBeAg)-negative phase (22/141, 15.6%). The 15-bp and 18-bp deletion variants were more frequently found in HBeAg-positive patients (P start codon deletion variants changes according to the immune phases of CHB infection, and each variant type is associated with different clinical parameters. PreS1 start codon deletion variants might interact with the host immune response differently according to their variant types. © 2017 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

Supervisor's HEXACO personality traits and subordinate perceptions of abusive supervision

NARCIS (Netherlands)

Breevaart, Kimberley; de Vries, Reinout Everhard

2017-01-01

Abusive supervision is detrimental to both subordinates and organizations. Knowledge about individual differences in personality related to abusive supervision may improve personnel selection and potentially reduce the harmful effects of this type of leadership. Using the HEXACO personality

Anatomical variants of lister's tubercle; A new morphological classification based on magnetic resonance imaging

Energy Technology Data Exchange (ETDEWEB)

Chan, Wan Ying; Chong, Le Roy [Dept. of Radiology, Changi General Hospital, Singapore (Singapore)

2017-11-15

Lister's tubercle is used as a standard anatomical landmark in hand surgery and arthroscopy procedures. In this study, we aimed to evaluate and propose a classification for anatomical variants of Lister's tubercle. Between September 2011 and July 2014, 360 MRI examinations for wrists performed using 1.5T scanners in a single institution were retrospectively evaluated. The prevalence of anatomical variants of Lister's tubercle based on the heights and morphology of its radial and ulnar peaks was assessed. These were classified into three distinct types: radial peak larger than ulnar peak (Type 1), similar radial and ulnar peaks (Type 2) and ulnar peak larger than radial peak (Type 3). Each type was further divided into 2 subtypes (A and B) based on the morphology of the peaks. The proportions of Type 1, Type 2, and Type 3 variants in the study population were 69.2, 21.4, and 9.5%, respectively. For the subtypes, the Type 1A variant was the most common (41.4%) and conformed to the classical appearance of Lister's tubercle; whereas, Type 3A and 3B variants were rare configurations (6.4% and 3.1%, respectively) wherein the extensor pollicis longus tendon coursed along the radial aspect of Lister's tubercle. Anatomical variations of Lister's tubercle have potential clinical implications for certain pathological conditions and pre-procedural planning. The proposed classification system facilitates a better understanding of these anatomical variations and easier identification of at-risk and rare variants.

Female Psychology in August Strindberg’s The Stronger

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Anton Sutandio

2017-11-01

Full Text Available This research aimed to offer interpretations of August Strindberg’s The Stronger through the lens of female psychology. The Stronger is unique as it seemed very simple yet so intense and powerful with layers of interpretations. Written during 1888-1889, The Stronger, which only had two characters and only one speaking character, had become one of Strindberg’s shortest yet important plays during his career. The female psychology approach used in the analysis would cover the discussion of gender role, women’s self-esteem, competition for males, women’s friendships, ego style, and female psychology. It was an interdisciplinary research that combined structuralist, historical, biographical, and feminist approach to gain a better interpretation on the play. By referring to three different sources on the concept of female psychology, the analysis offered different and interesting interpretations on the nature and dynamics of the two female characters’ relationship. The Stronger has shown an enigmatic attraction in Strindberg’s authorship in which the readers could see the co-existence, collision, conflict, and merge of different paradigms concerning sex, gender, and sexuality.

Female harbor seal (Phoca vitulina) behavioral response to playbacks of underwater male acoustic advertisement displays.

Science.gov (United States)

Matthews, Leanna P; Blades, Brittany; Parks, Susan E

2018-01-01

During the breeding season, male harbor seals ( Phoca vitulina ) make underwater acoustic displays using vocalizations known as roars. These roars have been shown to function in territory establishment in some breeding areas and have been hypothesized to be important for female choice, but the function of these sounds remains unresolved. This study consisted of a series of playback experiments in which captive female harbor seals were exposed to recordings of male roars to determine if females respond to recordings of male vocalizations and whether or not they respond differently to roars from categories with different acoustic characteristics. The categories included roars with characteristics of dominant males (longest duration, lowest frequency), subordinate males (shortest duration, highest frequency), combinations of call parameters from dominant and subordinate males (long duration, high frequency and short duration, low frequency), and control playbacks of water noise and water noise with tonal signals in the same frequency range as male signals. Results indicate that overall females have a significantly higher level of response to playbacks that imitate male vocalizations when compared to control playbacks of water noise. Specifically, there was a higher level of response to playbacks representing dominant male vocalization when compared to the control playbacks. For most individuals, there was a greater response to playbacks representing dominant male vocalizations compared to playbacks representing subordinate male vocalizations; however, there was no statistical difference between those two playback types. Additionally, there was no difference between the playbacks of call parameter combinations and the controls. Investigating female preference for male harbor seal vocalizations is a critical step in understanding the harbor seal mating system and further studies expanding on this captive study will help shed light on this important issue.

Sexualcoercion: Woman Subordination Undergone By Hanna X In Andre Brink's The Otherside Of Silence Novel

OpenAIRE

NUSANTI, RIHAN

2014-01-01

Nusanti, Rihan. 2014. “Sexual Coercion: Woman Subordination Undergoneby Hanna X in Andre Brink's The Otherside of Silence novel”. Study Programof English, Department of Languages and Literature, Faculty of Cultural Studies,Universitas Brawijaya. Supervisor: Fariska Pujiyanti, M.Hum; Co-supervisor: Winda Candra Hantari,M.A. Keywords: Feminist-Marxist, sexual coercion, patriarchy, women subordination,German women In traditional view, women occupy secondary position lower than men in society. It...

Toward an Interpersonal Paradigm for Superior-Subordinate Communication.

Science.gov (United States)

1983-11-01

Super- vision in a Large Industrial Organization." Disserta- tion Abstracts International, 34 (1974), 4460A (Kent State). Farace , Richard V.; Peter R...see, among others, Haney, 1976; Farace , Monge, and Russell, 1977; Mitchell, 1970; McMurry, n.d.; Harriman, 1974), and a problem for which no dearth of...for subordinates a positive 31 correlation exists between trust and their supervisors’ per- ceived willingness to listen. Farace , Monge, and Russell

Similarity and Dissimilarity between Superiors and Subordinates and Their Implications for Dyadic Relationship Quality

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Nereida Salette Paulo da Silveira

2009-01-01

Full Text Available Although literature advocates the advantages of work force diversification, studies based on the Similarity- Attraction Paradigm indicate that people are more disposed to feel attraction to those who are similar to them. A field study with the comparative data of 89 dyads investigated the effect of the actual and perceived similarity in the quality of the relationship between superiors and subordinates within the Leader-Member Exchange [LMX] perspective. The investigated characteristics were: gender, age and work-family conflict. The data indicate the influence only of perceived similarity in the quality of the relationship between superiors and subordinates. This effect broadens when the subordinate feels satisfied with the quality and frequency of contact with his/her superior. The methodological procedures included factorial analysis and validation of two scales (EIFT and LMX-7, the correlations analysis and hierarchic regressions. Finally, the implications of some results and directions for future research in diversity are discussed.

Organizational environment factors associated with corporate social responsibility: effects on communication and guanxi relationship between supervisors and subordinates in SMEs

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Edward WONG SEK KHIN

2016-09-01

Full Text Available Effective communication within an organization as part of CSR benchmarking factor that helps align employee expectations facilitates problem solving, builds cooperative relationships and channels employee efforts to achieve common goals. This paper seeks to determine how CSR benchmarking factors of the organizational environment (such as management style, organizational structure and workplace culture affect the effectiveness of intra-organizational communication and to examine the moderating effect of supervisor – subordinate guanxi. Data for the study was collected using self-administered questionnaires from working respondents in Kuala Lumpur in Selangor State, Malaysia. This study found that a more participative management style, less formalized organizational structure of SMEs and a healthier workplace culture are positively related to intra-organizational communication effectiveness. It was also discovered that the supervisor – subordinate relationship known as guanxi, has a positive moderating effect on all three relationships between management style, organizational structure and workplace culture with intra-organizational communication effectiveness. This study concludes that an organization’s management attitude towards employee participation, formalization of structure and healthiness of culture play important roles in encouraging effective communication and close supervisor – subordinate guanxi and further promotes communication, in addition to the mentioned environmental conditions.

Setters and samoyeds: the emergence of subordinate level categories as a basis for inductive inference in preschool-age children.

Science.gov (United States)

Waxman, S R; Lynch, E B; Casey, K L; Baer, L

1997-11-01

Basic level categories are a rich source of inductive inference for children and adults. These 3 experiments examine how preschool-age children partition their inductively rich basic level categories to form subordinate level categories and whether these have inductive potential. Children were taught a novel property about an individual member of a familiar basic level category (e.g., a collie). Then, children's extensions of that property to other objects from the same subordinate (e.g., other collies), basic (e.g., other dogs), and superordinate (e.g., other animals) level categories were examined. The results suggest (a) that contrastive information promotes the emergence of subordinate categories as a basis of inductive inference and (b) that newly established subordinate categories can retain their inductive potential in subsequent reasoning over a week's time.

An exploration of the role of subordinate affect in leader evaluations.

Science.gov (United States)

Martinko, Mark J; Mackey, Jeremy D; Moss, Sherry E; Harvey, Paul; McAllister, Charn P; Brees, Jeremy R

2018-03-26

Leadership research has been encumbered by a proliferation of constructs and measures, despite little evidence that each is sufficiently conceptually and operationally distinct from the others. We draw from research on subordinates' implicit theories of leader behavior, behaviorally anchored rating scales, and decision making to argue that leader affect (i.e., the degree to which subordinates have positive and negative feelings about their supervisors) underlies the common variance shared by many leadership measures. To explore this possibility, we developed and validated measures of positive and negative leader affect (i.e., the Leader Affect Questionnaires; LAQs). We conducted 10 studies to develop the five-item positive and negative LAQs and to examine their convergent, discriminant, predictive, and criterion-related validity. We conclude that a) the LAQs provide highly reliable and valid tools for assessing subordinates' evaluations of their leaders; b) there is significant overlap between existing leadership measures, and a large proportion of this overlap is a function of the affect captured by the LAQs; c) when the LAQs are used as control variables, in most cases, they reduce the strength of relationships between leadership measures and other variables; d) the LAQs account for significant variance in outcomes beyond that explained by other leadership measures; and e) there is a considerable amount of unexplained variance between leadership measures that the LAQs do not capture. Research suggestions are provided and the implications of our results are discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

On the Fractional Poisson Process and the Discretized Stable Subordinator

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Rudolf Gorenflo

2015-08-01

Full Text Available We consider the renewal counting number process N = N(t as a forward march over the non-negative integers with independent identically distributed waiting times. We embed the values of the counting numbers N in a “pseudo-spatial” non-negative half-line x ≥ 0 and observe that for physical time likewise we have t ≥ 0. Thus we apply the Laplace transform with respect to both variables x and t. Applying then a modification of the Montroll-Weiss-Cox formalism of continuous time random walk we obtain the essential characteristics of a renewal process in the transform domain and, if we are lucky, also in the physical domain. The process t = t(N of accumulation of waiting times is inverse to the counting number process, in honour of the Danish mathematician and telecommunication engineer A.K. Erlang we call it the Erlang process. It yields the probability of exactly n renewal events in the interval (0; t]. We apply our Laplace-Laplace formalism to the fractional Poisson process whose waiting times are of Mittag-Leffler type and to a renewal process whose waiting times are of Wright type. The process of Mittag-Leffler type includes as a limiting case the classical Poisson process, the process of Wright type represents the discretized stable subordinator and a re-scaled version of it was used in our method of parametric subordination of time-space fractional diffusion processes. Properly rescaling the counting number process N(t and the Erlang process t(N yields as diffusion limits the inverse stable and the stable subordinator, respectively.

rs10767664 Gene Variant in Brain-Derived Neurotrophic Factor Is Associated with Diabetes Mellitus Type 2 in Caucasian Females with Obesity.

Science.gov (United States)

de Luis, Daniel Antonio; Aller, Rocío; Izaola, Olatz; Primo, David; Romero, Enrique

2017-01-01

The role of brain-derived neurotrophic factor (BDNF) variants on diabetes prevalence, basal adipokine levels, body weight, and cardiovascular risk factors remains unclear in obese patients. This study is aimed at analyzing the effects of rs10767664 BDNF gene polymorphism on diabetes mellitus prevalence, body weight, cardiovascular risk factors, and serum adipokine levels in obese female patients. A total of 507 obese women were enrolled in a prospective way. Biochemical evaluation and anthropometric measures were recorded. The frequency of diabetes mellitus in the group of patients with non-T allele was 20.1 and 28.3% in T-allele carriers. Logistic regression showed a risk of diabetes mellitus of 1.33 (95% CI 1.17-2.08) in subjects with T allele adjusted by age and body mass index (BMI). T-allele carriers with diabetes mellitus have a higher weight, BMI, waist circumference, blood pressure, glucose, homeostasis model assessment insulin resistance (HOMA-IR), insulin, and C-reactive protein (CRP) levels than non-T-allele carriers. rs10767664 polymorphism of BDNF gene is associated with prevalence of diabetes mellitus in obese female patients. T-allele carriers with diabetes mellitus have a higher weight, fat mass, blood pressure, level of insulin, glucose, HOMA-IR, and CRP than non-T-allele carriers. © 2017 S. Karger AG, Basel.

The crossover of psychological distress from leaders to subordinates in teams: The role of abusive supervision, psychological capital, and team performance.

Science.gov (United States)

Li, Yuhui; Wang, Zhen; Yang, Liu-Qin; Liu, Songbo

2016-04-01

This study examines the underlying mechanism of the crossover process in work teams. Drawing on conservation of resources theory, we hypothesize that a leader's psychological distress positively influences subordinates' psychological distress through abusive supervision. We further hypothesize that team performance attenuates the association between a leader's psychological distress and abusive supervision. In addition, we expect that psychological capital attenuates the positive relationship between abusive supervision and subordinates' psychological distress. Participants were drawn from 86 business teams, and multisource data were collected. The hypotheses were tested with multilevel analysis. Results supported the crossover of psychological distress from leader to subordinates, and abusive supervision serves as a mediating mechanism. The positive relationship between a leader's distress and abusive supervision is stronger when team performance is lower. In addition, the positive relationship between abusive supervision and subordinates' psychological distress is stronger when subordinates' psychological capital is lower. (c) 2016 APA, all rights reserved).

EFFECTS OF INDIVIDUAL CHARACTERISTICS AND ORGANIZATIONAL CONTEXT ON SUPERIORS' USE OF CONFLICT STYLES AND SUBORDINATES' SATISFACTION WITH SUPERVISION

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Lee Kim Lian

2008-01-01

Full Text Available Data from 139 respondents from major industries showed that subordinates were more satisfied with their superiors' supervision through the exercise of integrating, compromising and obliging styles. On the contrary, subordinates who perceived their superiors as primarily using dominating and avoiding styles viewed them as incompetent in supervision and thus lowering their level of satisfaction with supervision. Among the conflict handling styles, integrating was most correlated with organic structure. The organic structure was found to be positively correlated with subordinates' satisfaction. These results implied that organic structure can be a potent force in maintaining organizational stability. The exercise of dominating style was found to be only marginally correlated with superior's age. Superior rank in lower hierarchy level was found to have a negative impact, albeit marginally on the exercise of dominating style. The present results also seemed to suggest that subordinates tend to be less satisfied with superiors with wider span of control.

Detection of new variant “Off-ladder” at the D12S391, D19S433 and ...

African Journals Online (AJOL)

Detection of new variant “Off-ladder” at the D12S391, D19S433 and D1S1656 ... African Journal of Biotechnology ... PCR products were detected by genetic analyzer 3130xL then, the data processed and analyzed by PowerStatsV1.2 software.

Calling Where It Counts: Subordinate Pied Babblers Target the Audience of Their Vocal Advertisements.

Science.gov (United States)

Humphries, David J; Finch, Fiona M; Bell, Matthew B V; Ridley, Amanda R

2015-01-01

For territorial group-living species, opportunities to reproduce on the natal territory can be limited by a number of factors including the availability of resources within a territory, access to unrelated individuals, and monopolies on reproduction by dominant group members. Individuals looking to reproduce are therefore faced with the options of either waiting for a breeding opportunity to arise in the natal territory, or searching for reproductive opportunities in non-natal groups. In the cooperatively breeding Southern pied babbler, Turdoides bicolor, most individuals who achieve reproductive success do so through taking up dominant breeding positions within non-natal groups. For subordinate pied babblers therefore, searching for breeding opportunities in non-natal groups is of primary importance as this represents the major route to reproductive success. However, prospecting (where individuals leave the group to search for reproductive opportunities within other groups) is costly and individuals rapidly lose weight when not part of a group. Here we demonstrate that subordinate pied babblers adopt an alternative strategy for mate attraction by vocal advertisement from within their natal territories. We show that subordinates focus their calling efforts on the edges of their territory, and specifically near boundaries with neighbouring groups that have potential breeding partners (unrelated individuals of the opposite sex). In contrast to prospecting, calling individuals showed no body mass loss associated with this behaviour, suggesting that calling from within the group may provide a 'cheap' advertisement strategy. Additionally, we show that subordinates use information regarding the composition of neighbouring groups to target the greatest number of potential mating partners.

Atomic Energy Act (AtG) and subordinate legislation. Collections. 35. ed.

International Nuclear Information System (INIS)

Ziegler, Eberhard

2018-01-01

The Atomic Energy Act (AtG) and subordinate legislation covers the following issues: The German constitution, the atomic energy act, subordinate process regulations, radiation protection regulation, X-ray regulation, financial security regulation, cost regulations, safety delegate and reporting regulations, law on the installation of a Federal Office for nuclear disposal security, site selection law, final repository advance financing, radioactive waste transport regulation, disposal fund law, regulation on the payment receipt according to the disposal fund law, transitional disposal law, transparency law, run-off liability law, law on the installation of the Federal office for radiation protection, radiation protection law, food irradiation law, regulation on drug treatment with radioactivity or ionizing radiation, Paris agreement on nuclear liabilities and additional agreement, joint protocol on the application of the Vienna and Paris agreements, environmental compatibility assessment law, criminal code (partial), state competence regulations on the execution of regulations according the atomic energy act.

The influence of leadership style on subordinates' attachment to the leader.

Science.gov (United States)

Molero, Fernando; Moriano, Juan A; Shaver, Phillip R

2013-01-01

The aim of this research is to explore the extent to which employees establish attachment bonds with their leaders and the effects these bonds have on organizational outcomes. A sample of 225 participants reported on their supervisor's leadership style (transformational, transactional, or passive-avoidant), their attachment bonds to this supervisor (anxious or avoidant), and four organizational variables (subordinate's satisfaction, identification with the organization, extra effort, and perceived leadership effectiveness). Results, analyzed using a Partial Least Squares (PLS) approach, indicated that (a) transformational leadership was negatively associated with employees' insecure (anxious or avoidant) attachment to their leader; (b) passive/avoidant leadership was positively associated with subordinates' insecure attachment to their leader; (c) transactional leadership was positively associated with employee's anxious attachment but not with their avoidant attachment; (d) avoidant, but not anxious, attachment to the leader was negatively associated with employee satisfaction, perceived leader effectiveness, employee's extra effort, and organizational identification.

Socially transmitted diffusion of a novel behavior from subordinate chimpanzees.

Science.gov (United States)

Watson, Stuart K; Reamer, Lisa A; Mareno, Mary Catherine; Vale, Gillian; Harrison, Rachel A; Lambeth, Susan P; Schapiro, Steven J; Whiten, Andrew

2017-06-01

Chimpanzees (Pan troglodytes) demonstrate much cultural diversity in the wild, yet a majority of novel behaviors do not become group-wide traditions. Since many such novel behaviors are introduced by low-ranking individuals, a bias toward copying dominant individuals ("rank-bias") has been proposed as an explanation for their limited diffusion. Previous experimental work showed that chimpanzees (Pan troglodytes) preferentially copy dominant over low-rank models. We investigated whether low ranking individuals may nevertheless successfully seed a beneficial behavior as a tradition if there are no "competing" models. In each of four captive groups, either a single high-rank (HR, n = 2) or a low-rank (LR, n = 2) chimpanzee model was trained on one method of opening a two-action puzzle-box, before demonstrating the trained method in a group context. This was followed by 8 hr of group-wide, open-access to the puzzle-box. Successful manipulations and observers of each manipulation were recorded. Barnard's exact tests showed that individuals in the LR groups used the seeded method as their first-choice option at significantly above chance levels, whereas those in the HR groups did not. Furthermore, individuals in the LR condition used the seeded method on their first attempt significantly more often than those in the HR condition. A network-based diffusion analysis (NBDA) revealed that the best supported statistical models were those in which social transmission occurred only in groups with subordinate models. Finally, we report an innovation by a subordinate individual that built cumulatively on existing methods of opening the puzzle-box and was subsequently copied by a dominant observer. These findings illustrate that chimpanzees are motivated to copy rewarding novel behaviors that are demonstrated by subordinate individuals and that, in some cases, social transmission may be constrained by high-rank demonstrators. © 2017 Wiley Periodicals, Inc.

Understanding of subordinate clauses in the language of dysphasic children

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Lazarević Emilija

2007-01-01

Full Text Available This paper presents the results of the research of peculiarities of syntactic development, as an element of language structure on the grammatical level of children suffering from developmental dysphasia, after the completed speech pathology treatment of many years. Syntactic level at younger school age was studied by assessing language competence in the accomplishment of communicative sentence with subordinate clause. The research was performed on the samples of children at school age in regular primary schools in Belgrade. The sample comprised 160 respondents who were divided in two groups: target and comparative. The target group consisted of 60 respondents (children suffering from developmental dysphasia after the completed speech pathology treatment of many years, and the comparative group consisted of 100 respondents from regular primary school "Gavrilo Princip" in Zemun. Research results show that grammatical development of children suffering from developmental dysphasia takes place at a considerably slower rate and entails substantially more difficulties in accomplishing predication in subordinate clauses. This paper discusses the consequences which the difficulties in grammatical development can have on school achievement.

Perceived supervisor’s subclinical psychopathy, and subordinate’s organizational commitment, job satisfaction and satisfaction with executive

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ELŻBIETA SANECKA

2013-12-01

Full Text Available This study was designed to investigate the correlations between supervisor`s perceived subclinical psychopathy and subordinate`s organizational commitment, overall job satisfaction and particularly satisfaction with his/her supervisor. The results, based on a sample of 153 employees, showed that subordinates working with leaders, who can be defined as organizational (or industrial, corporate psychopaths, tended to adopt more negative work attitudes. Supervisor`s perceived subclinical psychopathy had a negative impact on subordinates’ job satisfaction, satisfaction with supervisor and their organizational commitment. The paper discusses the results and limitations of the study, and offers suggestions for future research. Keywords: ; ; ; ; ;

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

NARCIS (Netherlands)

Schonewolf-Greulich, B.; Tejada, M.I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brondum-Nielsen, K.; Pfundt, R.P.; Ravn, K.; Maortua, H.; Gener, B.; Martinez-Bouzas, C.; Piton, A.; Rouleau, G.; Clayton-Smith, J.; Kleefstra, T.; Bisgaard, A.M.; Tumer, Z.

2016-01-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair

Mother knows best: dominant females determine offspring dispersal in red foxes (Vulpes vulpes.

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Helen M Whiteside

Full Text Available Relatedness between group members is central to understanding the causes of animal dispersal. In many group-living mammals this can be complicated as extra-pair copulations result in offspring having varying levels of relatedness to the dominant animals, leading to a potential conflict between male and female dominants over offspring dispersal strategies. To avoid resource competition and inbreeding, dominant males might be expected to evict unrelated males and related females, whereas the reverse strategy would be expected for dominant females.We used microsatellites and long-term data from an urban fox (Vulpes vulpes population to compare dispersal strategies between offspring with intra- and extra-group fathers and mothers of differing social status in red foxes. Relatedness to the dominant male had no effect on dispersal in offspring of either sex, whereas there was a strong effect of relatedness to resident females on offspring dispersal independent of population density. Males with dominant mothers dispersed significantly more often than males with subordinate mothers, whereas dispersing females were significantly more likely to have subordinate mothers compared to philopatric females.This is the first study to demonstrate that relatedness to resident females is important in juvenile dispersal in group-living mammals. Male dispersal may be driven by inbreeding avoidance, whereas female dispersal appears to be influenced by the fitness advantages associated with residing with the same-sex dominant parent. Selection pressure for paternal influence on offspring dispersal is low due to the limited costs associated with retaining unrelated males and the need for alternative inbreeding avoidance mechanisms between the dominant male and his female offspring. These findings have important implications for the evolution of dispersal and group living in social mammals, and our understanding of a key biological process.

Mother knows best: dominant females determine offspring dispersal in red foxes (Vulpes vulpes).

Science.gov (United States)

Whiteside, Helen M; Dawson, Deborah A; Soulsbury, Carl D; Harris, Stephen

2011-01-01

Relatedness between group members is central to understanding the causes of animal dispersal. In many group-living mammals this can be complicated as extra-pair copulations result in offspring having varying levels of relatedness to the dominant animals, leading to a potential conflict between male and female dominants over offspring dispersal strategies. To avoid resource competition and inbreeding, dominant males might be expected to evict unrelated males and related females, whereas the reverse strategy would be expected for dominant females. We used microsatellites and long-term data from an urban fox (Vulpes vulpes) population to compare dispersal strategies between offspring with intra- and extra-group fathers and mothers of differing social status in red foxes. Relatedness to the dominant male had no effect on dispersal in offspring of either sex, whereas there was a strong effect of relatedness to resident females on offspring dispersal independent of population density. Males with dominant mothers dispersed significantly more often than males with subordinate mothers, whereas dispersing females were significantly more likely to have subordinate mothers compared to philopatric females. This is the first study to demonstrate that relatedness to resident females is important in juvenile dispersal in group-living mammals. Male dispersal may be driven by inbreeding avoidance, whereas female dispersal appears to be influenced by the fitness advantages associated with residing with the same-sex dominant parent. Selection pressure for paternal influence on offspring dispersal is low due to the limited costs associated with retaining unrelated males and the need for alternative inbreeding avoidance mechanisms between the dominant male and his female offspring. These findings have important implications for the evolution of dispersal and group living in social mammals, and our understanding of a key biological process.

Predictors of insubordinate aggression among captive female rhesus macaques.

Science.gov (United States)

Seil, Shannon K; Hannibal, Darcy L; Beisner, Brianne A; McCowan, Brenda

2017-11-01

Cercopithicine primates tend to have nepotistic hierarchies characterized by predictable, kinship-based dominance. Although aggression is typically directed down the hierarchy, insubordinate aggression does occur. Insubordination is important to understand because it can precipitate social upheaval and undermine group stability; however, the factors underlying it are not well understood. We test whether key social and demographic variables predict insubordination among captive female rhesus macaques. To identify factors influencing insubordination, multivariate analyses of 10,821 dyadic conflicts among rhesus macaque females were conducted, using data from six captive groups. A segmented regression analysis was used to identify dyads with insubordination. Negative binomial regression analyses and an information theoretic approach were used to assess predictors of insubordination among dyads. In the best models, weight difference (w = 1.0; IRR = 0.930), age (dominant: w = 1.0, IRR = 0.681; subordinate: w = 1.0, IRR = 1.069), the subordinate's total number of allies (w = 0.727, IRR = 1.060) or non-kin allies (w = 0.273, IRR = 1.165), the interaction of the dominant's kin allies and weight difference (w = 0.938, IRR = 1.046), violation of youngest ascendancy (w = 1.0; IRR = 2.727), and the subordinate's maternal support (w = 1.0; IRR = 2.928), are important predictors of insubordination. These results show that both intrinsic and social factors influence insubordinate behavior. This adds to evidence of the importance of intrinsic factors and flexibility in a social structure thought to be rigid and predetermined by external factors. Further, because insubordination can precipitate social overthrow, determining predictors of insubordination will shed light on mechanisms underlying stability in nepotistic societies. © 2017 Wiley Periodicals, Inc.

Leaders' strategies for dealing with own and their subordinates' stress in public human service organisations.

Science.gov (United States)

Skagert, Katrin; Dellve, Lotta; Eklöf, Mats; Pousette, Anders; Ahlborg, Gunnar

2008-11-01

Despite the acknowledged key role of leaders for psychosocial work environment, few studies focus on how leaders can decrease work-related stress. To gain deeper knowledge of leaders' perceptions and strategies for dealing with their own and their subordinates' stress in public human service organisations (HSO), qualitative interviews were made with leaders from hospitals and regional social insurance offices (n=21), and analysed in line with grounded theory method. The leaders handled subordinates' stress and perceived leadership demands by acting as shock absorber (core category) and used strategies characterised as leading in continuous change whilst maintaining trustworthiness. To cope with their own stress from perceived leadership demands, they tried to sustain their own integrity (core category) by either identifying with or distancing themselves from the leader role. The strategies for dealing with leaders' own and subordinates' exposures to stressors was pervaded by perceived leadership demands and are probably influencing each other. Supportive structures and improved communication about everyday dilemmas seem to be needed in order, not just to prevent stress reactions, but to improve the basic conditions for practicing leadership in HSO.

The Fractional Poisson Process and the Inverse Stable Subordinator

OpenAIRE

Meerschaert, Mark; Nane, Erkan; Vellaisamy, P.

2011-01-01

The fractional Poisson process is a renewal process with Mittag-Leffler waiting times. Its distributions solve a time-fractional analogue of the Kolmogorov forward equation for a Poisson process. This paper shows that a traditional Poisson process, with the time variable replaced by an independent inverse stable subordinator, is also a fractional Poisson process. This result unifies the two main approaches in the stochastic theory of time-fractional diffusion equations. The equivalence extend...

Work Hours of Immigrant Versus U.S.-Born Female Workers.

Science.gov (United States)

Bae, Sung-Heui

2017-10-01

This study was a secondary analysis of cross-sectional data extracted from the 2011-2012 California Health Interview Survey. Data from 8,931 full-time (i.e., 21 hours or more per week) women workers aged 18 to 85 years were analyzed to examine the nature and prevalence of immigrant female workers' work hours, overtime, and related factors in the United States compared to U.S.-born female workers. Results showed that foreign-born female workers did not work longer hours than U.S.-born female workers. Foreign-born female workers who reported poor health worked longer hours than did their U.S.-born counterparts. Foreign-born female workers who were self-employed or worked in family businesses tended to work longer hours than did those women who worked for private companies or nonprofit organizations.

Memory-Based Specification of Verbal Features for Classifying Animals into Super-Ordinate and Sub-Ordinate Categories

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Takahiro Soshi

2017-09-01

Full Text Available Accumulating evidence suggests that category representations are based on features. Distinguishing features are considered to define categories, because of all-or-none responses for objects in different categories; however, it is unclear how distinguishing features actually classify objects at various category levels. The present study included 75 animals within three classes (mammal, bird, and fish, along with 195 verbal features. Healthy adults participated in memory-based feature-animal matching verification tests. Analyses included a hierarchical clustering analysis, support vector machine, and independent component analysis to specify features effective for classifications. Quantitative and qualitative comparisons for significant features were conducted between super-ordinate and sub-ordinate levels. The number of significant features was larger for super-ordinate than sub-ordinate levels. Qualitatively, the proportion of biological features was larger than cultural/affective features in both the levels, while the proportion of affective features increased at the sub-ordinate level. To summarize, the two types of features differentially function to establish category representations.

7 CFR 3560.409 - Subordinations or junior liens against security property.

Science.gov (United States)

2010-01-01

... program requirements or to operate and manage the housing project in a manner consistent with program... specific amount. (4) The subordination or junior lien must not adversely impact the Agency's ability to... condition and the borrower's ability to repay the Agency loan being secured by the property. (3) The action...

Female gratification, sexual power and safer sex

DEFF Research Database (Denmark)

Skafte, Ina; Silberschmidt, Margrethe

2014-01-01

The gender-based response to HIV in sub-Saharan Africa has tended to reinforce normative stereotypes of women as subordinated, passive and powerless victims, in particular in sexual relations. However, based on qualitative data from Rwanda, this paper argues that such conceptualisations fail to r...... both to practice safer sex and to access decision-making power and material resources. This suggests that inherent in sexual relations is a potential for the empowerment of women and the transformation of gender relations.......The gender-based response to HIV in sub-Saharan Africa has tended to reinforce normative stereotypes of women as subordinated, passive and powerless victims, in particular in sexual relations. However, based on qualitative data from Rwanda, this paper argues that such conceptualisations fail...... to recognise that while women do comply with prevalent social norms, they also challenge these norms and sex becomes a domain in which they can exert power. Female sexuality and sexual gratification - acknowledged and valued by women as well as men - play a pivotal role in the Rwandese mode of sexual...

Common 5S rRNA variants are likely to be accepted in many sequence contexts

Science.gov (United States)

Zhang, Zhengdong; D'Souza, Lisa M.; Lee, Youn-Hyung; Fox, George E.

2003-01-01

Over evolutionary time RNA sequences which are successfully fixed in a population are selected from among those that satisfy the structural and chemical requirements imposed by the function of the RNA. These sequences together comprise the structure space of the RNA. In principle, a comprehensive understanding of RNA structure and function would make it possible to enumerate which specific RNA sequences belong to a particular structure space and which do not. We are using bacterial 5S rRNA as a model system to attempt to identify principles that can be used to predict which sequences do or do not belong to the 5S rRNA structure space. One promising idea is the very intuitive notion that frequently seen sequence changes in an aligned data set of naturally occurring 5S rRNAs would be widely accepted in many other 5S rRNA sequence contexts. To test this hypothesis, we first developed well-defined operational definitions for a Vibrio region of the 5S rRNA structure space and what is meant by a highly variable position. Fourteen sequence variants (10 point changes and 4 base-pair changes) were identified in this way, which, by the hypothesis, would be expected to incorporate successfully in any of the known sequences in the Vibrio region. All 14 of these changes were constructed and separately introduced into the Vibrio proteolyticus 5S rRNA sequence where they are not normally found. Each variant was evaluated for its ability to function as a valid 5S rRNA in an E. coli cellular context. It was found that 93% (13/14) of the variants tested are likely valid 5S rRNAs in this context. In addition, seven variants were constructed that, although present in the Vibrio region, did not meet the stringent criteria for a highly variable position. In this case, 86% (6/7) are likely valid. As a control we also examined seven variants that are seldom or never seen in the Vibrio region of 5S rRNA sequence space. In this case only two of seven were found to be potentially valid. The

Variant of Rett syndrome and CDKL5 gene

DEFF Research Database (Denmark)

Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt

2012-01-01

UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all...

Are all types of expertise created equal? Car experts use different spatial frequency scales for subordinate categorization of cars and faces.

Science.gov (United States)

Harel, Assaf; Bentin, Shlomo

2013-01-01

A much-debated question in object recognition is whether expertise for faces and expertise for non-face objects utilize common perceptual information. We investigated this issue by assessing the diagnostic information required for different types of expertise. Specifically, we asked whether face categorization and expert car categorization at the subordinate level relies on the same spatial frequency (SF) scales. Fifteen car experts and fifteen novices performed a category verification task with spatially filtered images of faces, cars, and airplanes. Images were categorized based on their basic (e.g. "car") and subordinate level (e.g. "Japanese car") identity. The effect of expertise was not evident when objects were categorized at the basic level. However, when the car experts categorized faces and cars at the subordinate level, the two types of expertise required different kinds of SF information. Subordinate categorization of faces relied on low SFs more than on high SFs, whereas subordinate expert car categorization relied on high SFs more than on low SFs. These findings suggest that expertise in the recognition of objects and faces do not utilize the same type of information. Rather, different types of expertise require different types of diagnostic visual information.

Social stress and reproductive success in the female Syrian hamster: endocrine and behavioral correlates.

Science.gov (United States)

Chelini, Marie Odile Monier; Palme, Rupert; Otta, Emma

2011-10-24

In many mammal species, reproduction is not shared equally among the members of a social unit. Even though reproductive skew seems unlikely in females of solitary species, this phenomenon could result from environmental factors. Although solitary in the wild, captive Syrian hamsters (Mesocricetus auratus) are generally housed in groups. We investigated whether social stress produces some degree of reproductive skew in this solitary species and whether female reproductive success varies as a function of social rank. To assess the physiological relationship between social stress and fertility, we monitored reproductive hormones and glucocorticoids of solitary and pair-housed females during pregnancy by means of recently established non-invasive methods for measuring hormone metabolites in the feces. The patterns of fecal progesterone, estrogen and glucocorticoid metabolites were similar to those found in blood and reported in the literature for pregnant hamsters. As expected, dominant females had higher breeding success than subordinate females. However the rate of reproductive failure was also very high among the singly housed females of our control group. The number of pups per litter, the average sex-ratio in each group, and the mean weight of pups did not differ significantly among groups. Glucocorticoid concentrations were unaffected by housing and social rank and the few differences between the endocrine profiles of singly- and pair-housed females are not sufficient to explain the observed difference in breeding success. It is likely that social isolation impairs reproduction in the same manner as subordination. Our findings suggest that social isolation of animals accustomed to group living was equally as disturbing as cohabitation with an unknown conspecific. Copyright © 2011 Elsevier Inc. All rights reserved.

The (Biological or Cultural) Essence of Essentialism: Implications for Policy Support among Dominant and Subordinated Groups.

Science.gov (United States)

Soylu Yalcinkaya, Nur; Estrada-Villalta, Sara; Adams, Glenn

2017-01-01

Most research links (racial) essentialism to negative intergroup outcomes. We propose that this conclusion reflects both a narrow conceptual focus on biological/genetic essence and a narrow research focus from the perspective of racially dominant groups. We distinguished between beliefs in biological and cultural essences, and we investigated the implications of this distinction for support of social justice policies (e.g., affirmative action) among people with dominant (White) and subordinated (e.g., Black, Latino) racial identities in the United States. Whereas, endorsement of biological essentialism may have similarly negative implications for social justice policies across racial categories, we investigated the hypothesis that endorsement of cultural essentialism would have different implications across racial categories. In Studies 1a and 1b, we assessed the properties of a cultural essentialism measure we developed using two samples with different racial/ethnic compositions. In Study 2, we collected data from 170 participants using an online questionnaire to test the implications of essentialist beliefs for policy support. Consistent with previous research, we found that belief in biological essentialism was negatively related to policy support for participants from both dominant and subordinated categories. In contrast, the relationship between cultural essentialism and policy support varied across identity categories in the hypothesized way: negative for participants from the dominant category but positive for participants from subordinated categories. Results suggest that cultural essentialism may provide a way of identification that subordinated communities use to mobilize support for social justice.

The (Biological or Cultural Essence of Essentialism: Implications for Policy Support among Dominant and Subordinated Groups

Directory of Open Access Journals (Sweden)

Nur Soylu Yalcinkaya

2017-05-01

Full Text Available Most research links (racial essentialism to negative intergroup outcomes. We propose that this conclusion reflects both a narrow conceptual focus on biological/genetic essence and a narrow research focus from the perspective of racially dominant groups. We distinguished between beliefs in biological and cultural essences, and we investigated the implications of this distinction for support of social justice policies (e.g., affirmative action among people with dominant (White and subordinated (e.g., Black, Latino racial identities in the United States. Whereas, endorsement of biological essentialism may have similarly negative implications for social justice policies across racial categories, we investigated the hypothesis that endorsement of cultural essentialism would have different implications across racial categories. In Studies 1a and 1b, we assessed the properties of a cultural essentialism measure we developed using two samples with different racial/ethnic compositions. In Study 2, we collected data from 170 participants using an online questionnaire to test the implications of essentialist beliefs for policy support. Consistent with previous research, we found that belief in biological essentialism was negatively related to policy support for participants from both dominant and subordinated categories. In contrast, the relationship between cultural essentialism and policy support varied across identity categories in the hypothesized way: negative for participants from the dominant category but positive for participants from subordinated categories. Results suggest that cultural essentialism may provide a way of identification that subordinated communities use to mobilize support for social justice.

AN ANALYSIS OF STUDENTS’ ABILITY IN USING SUB-ORDINATE CONJUNCTION IN SENTENCE WRITING OF THE GRADE XII STUDENTS OF SMA N 2 METRO ACADEMIC YEAR 2013/2014

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Bambang Eko Siagianto

2017-02-01

Full Text Available Abstracts: Sub-ordinate conjunction is very confusing to comprehend by students. In using sub-ordinate conjunction, students usually had errors. The purpose of this research to analyze whether or not the students are able to use sub-ordinate conjunction in sentence writing, to classify kinds of sub-ordinate conjunction that was often misused by students in sentence writing The research was done at the grade XII of SMA N 2 Metro in second semester of the academic year 2013/2014. The predicted research findings are; the students cannot divide or difference the type of sub-ordinate conjunction well, and they often errors using it in sentences.The result of the students test in using sub-ordinate conjunction in sentence writing proves that most of the students at the grade XII of SMA N 2 Metro used the list of words “after, then, when, because” on their sentence writing. The students found these words easier to be used as conjunction especially sub-ordinate conjunction in their sentence writing than other conjunction. While, for other list of words doesn’t used by the students because the students cannot adapted the words in their sentence writing. The most familiar sub-ordinate conjunction seems to be  “before and since” (each of them is gained by 22 students = 91,6%, but the students are unfamiliar with the other words in sub-ordinate conjunction mainly “till and unless” (each of the is gained by 13 students = 54,1%. The other sub-ordinate conjunctions are quite familiar for them.

IDOL N342S Variant, Atherosclerosis Progression and Cardiovascular Disorders in the Italian General Population.

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Ashish Dhyani

Full Text Available Inducible degrader of the low density lipoprotein receptor (IDOL, is an E3 ubiquitin ligase that negatively modulates low density lipoprotein receptor (LDL-R expression. Genome-wide association studies (GWAS indicated that genetic variants in IDOL gene contributes to variation in LDL-C plasma levels and the detailed analysis of a specific locus resulted in the identification of the functional common single nucleotide polymorphism (SNP rs9370867 (c.G1025A, p.N342S associates with increased LDL-R degradation and increased LDL-C levels. These findings, however, were not confirmed in two other independent cohorts and no data about the impact of this variant on atherosclerosis progression and cardiovascular risk are available. Aim of this study was to investigate the association between a functional variant in IDOL and atherosclerosis progression in an Italian general population. 1384 subjects enrolled in the PLIC study (Progression of Lesions in the Intima of Carotid were genotyped by Q-PCR allelic discrimination and the association with anthropometric parameters, plasma lipids and the carotid intima media thickness (cIMT and the impact on cardiovascular disease (CVD incidence were investigated. The N342S variant was not associated with changes of the plasma lipid profile among GG, AG or AA carriers, including total cholesterol (249±21, 249±19 and 248±21 mg/dl respectively, LDL-C (158±25, 161±22 and 160±23 mg/dL, cIMT (0.74±0.14, 0.75±0.17 and 0.77±0.15 mm and CVD incidence. In agreement, the expression of LDLR and the uptake of LDL was similar in macrophages derived from GG and AA carriers. Taken together our findings indicate that the N342S variant does not impact plasma lipid profile and is not associated with atherosclerosis progression and CVD in the general population, suggesting that other variants in the IDOL gene might be functionally linked with cholesterol metabolism.

Variants of Interleukin-22 Gene Confer Predisposition to Autoimmune Thyroid Disease

Directory of Open Access Journals (Sweden)

Rong-hua Song

2017-01-01

Full Text Available As there are no previous studies on the interleukin-22 (IL-22 variants in autoimmune thyroid disease (AITD, the present study aimed to explore the association between polymorphisms of IL-22 and the predisposition to AITD. The study had 975 AITD patients, including 639 Graves’ disease (GD and 336 Hashimoto’s thyroiditis (HT individuals and 851 healthy cohorts. Ligase detection reaction (LDR and direct sequencing method were used for genotyping the IL-22 gene polymorphisms at rs2046068, rs2227478, rs2227485, rs11611206, and rs1179251. In comparison to female controls, genotype CC of rs1179251 was increased in the female AITD patients. Alleles C at rs2046068, C at rs2227478, and C at rs1179251 linked to the susceptibility of HT males. Genotype CC in rs1179251 was higher in male HT. Variants at rs2046068, rs2227478, and rs1179251 were associated with the AITD teenagers. Besides, genotype GG in rs11611206 was correlated with thyroid-associated ophthalmopathy (TAO. Moreover, allele G at rs11611206 was associated with decreased risk for TAO by 28.9%. Similarly, genotype CC of rs1179251 and genotype GG of rs11611206 were associated with Graves’ ophthalmopathy (GO. Allele G in rs11611206 increased people with HT towards the predisposition of hypothyroidism. In conclusion, genetic variants of IL-22 are associated with the occurrence of AITD.

ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

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Ishwar Sidappa Hasabi

2017-02-01

Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

Peering is not a formal indicator of subordination in bonobos (Pan paniscus)

NARCIS (Netherlands)

Stevens, J.M.G.; Vervaecke, H.; Vries, Han de; Elsacker, L. van

2005-01-01

It has been suggested that peering behavior in bonobos is a formal signal acknowledging social dominance status. We investigated whether peering meets the published criteria for a formal signal of subordination in five captive groups of bonobos. The degree of linearity in the set of peering

Principal-subordinate hierarchical multi-objective programming model of initial water rights allocation

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Dan Wu

2009-06-01

Full Text Available The principal-subordinate hierarchical multi-objective programming model of initial water rights allocation was developed based on the principle of coordinated and sustainable development of different regions and water sectors within a basin. With the precondition of strictly controlling maximum emissions rights, initial water rights were allocated between the first and the second levels of the hierarchy in order to promote fair and coordinated development across different regions of the basin and coordinated and efficient water use across different water sectors, realize the maximum comprehensive benefits to the basin, promote the unity of quantity and quality of initial water rights allocation, and eliminate water conflict across different regions and water sectors. According to interactive decision-making theory, a principal-subordinate hierarchical interactive iterative algorithm based on the satisfaction degree was developed and used to solve the initial water rights allocation model. A case study verified the validity of the model.

Subordinations In “To Kill A Mockingbird” By Harper Lee

OpenAIRE

Siregar, Rut Sri Novitawaty

2011-01-01

Salah satu yang dipelajari mahasiswa adalah tulis menulis. Secara ilmiah tulis menulis adalah penyampaian informasi dalam bentuk tulisan serta bagaimana informasi itu disampaikan. Judul kertas karya ini adalah Kalimat Subordinat yang ditemukan dalam novel To Kill a Mockingbird karya Harper Lee: SUBORDINATION IN TO KILL A MOCKINGBIRD BY HARPER LEE. Penulis mengangkat hal ini karena penulis tertarik dengan bentuk–bentuk serta fungsi-fungsi kalimat subordinat yang terdapat dalam tulisan-tulisan ...

Pathogenesis comparison between the United States porcine epidemic diarrhoea virus prototype and S-INDEL-variant strains in conventional neonatal piglets.

Science.gov (United States)

Chen, Qi; Gauger, Phillip C; Stafne, Molly R; Thomas, Joseph T; Madson, Darin M; Huang, Haiyan; Zheng, Ying; Li, Ganwu; Zhang, Jianqiang

2016-05-01

At least two genetically different porcine epidemic diarrhoea virus (PEDV) strains have been identified in the USA: US PEDV prototype and S-INDEL-variant strains. The objective of this study was to compare the pathogenicity differences of the US PEDV prototype and S-INDEL-variant strains in conventional neonatal piglets under experimental infections. Fifty PEDV-negative 5-day-old pigs were divided into five groups of ten pigs each and were inoculated orogastrically with three US PEDV prototype isolates (IN19338/2013, NC35140/2013 and NC49469/2013), an S-INDEL-variant isolate (IL20697/2014), and virus-negative culture medium, respectively, with virus titres of 104 TCID50 ml- 1, 10 ml per pig. All three PEDV prototype isolates tested in this study, regardless of their phylogenetic clades, had similar pathogenicity and caused severe enteric disease in 5-day-old pigs as evidenced by clinical signs, faecal virus shedding, and gross and histopathological lesions. Compared with pigs inoculated with the three US PEDV prototype isolates, pigs inoculated with the S-INDEL-variant isolate had significantly diminished clinical signs, virus shedding in faeces, gross lesions in small intestines, caeca and colons, histopathological lesions in small intestines, and immunohistochemistry staining in ileum. However, the US PEDV prototype and the S-INDEL-variant strains induced similar viraemia levels in inoculated pigs. Whole genome sequences of the PEDV prototype and S-INDEL-variant strains were determined, but the molecular basis of virulence differences between these PEDV strains remains to be elucidated using a reverse genetics approach.

The Subordinates in the Fictions of Appropriation of Minors

OpenAIRE

Souto, Luz Celestina

2013-01-01

the rol of the subordinates in the appropriation of children during the Argentinian Dictatorship has been questioned in several disciplines. However, are the works of  the writer Martín Kohan which have managed to tell the untold history in a very effective way by condensing it in the creation of a credible fictional world and, because of that, grinding. In Dos veces junio, as well as in Cuentas pendientes, the consequences of the banality of evil are obvious, since it represents the consensu...

GenProBiS: web server for mapping of sequence variants to protein binding sites.

Science.gov (United States)

Konc, Janez; Skrlj, Blaz; Erzen, Nika; Kunej, Tanja; Janezic, Dusanka

2017-07-03

Discovery of potentially deleterious sequence variants is important and has wide implications for research and generation of new hypotheses in human and veterinary medicine, and drug discovery. The GenProBiS web server maps sequence variants to protein structures from the Protein Data Bank (PDB), and further to protein-protein, protein-nucleic acid, protein-compound, and protein-metal ion binding sites. The concept of a protein-compound binding site is understood in the broadest sense, which includes glycosylation and other post-translational modification sites. Binding sites were defined by local structural comparisons of whole protein structures using the Protein Binding Sites (ProBiS) algorithm and transposition of ligands from the similar binding sites found to the query protein using the ProBiS-ligands approach with new improvements introduced in GenProBiS. Binding site surfaces were generated as three-dimensional grids encompassing the space occupied by predicted ligands. The server allows intuitive visual exploration of comprehensively mapped variants, such as human somatic mis-sense mutations related to cancer and non-synonymous single nucleotide polymorphisms from 21 species, within the predicted binding sites regions for about 80 000 PDB protein structures using fast WebGL graphics. The GenProBiS web server is open and free to all users at http://genprobis.insilab.org. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

Still Trapped in the U.S. Media's Closet: Representations of Gender-Variant, Pre-Adolescent Children.

Science.gov (United States)

Kelso, Tony

2015-01-01

Many studies have examined representations of gay, lesbian, bisexual, and transgender (LGBT) people in the U.S. media. Yet they have centered on portrayals of adults or teenagers. This investigation considered a potential LGBT population that has been neglected in media research, namely gender-variant, preadolescent children. Surveying the U.S. media at large but with an emphasis on television, the article reveals that gender-creative youth are nearly invisible. When depictions of gender-variant kids do appear, they often focus on either children who express extreme gender dysphoria or in some way signify the "tragic queer" motif (or both). The implications of these findings are discussed.

Leader reliance on subordinates across nations that differ in development and climate

NARCIS (Netherlands)

Van de Vliert, E; Smith, P B

How, where, and why do leaders follow the people they lead? An 84-nation analysis of survey responses from 19,525 managers shows that their reliance on subordinates depends on the level of wealth and development, and the harshness of cold or hot climates. In support of the thermal demands-resources

AN ANALYSIS OF STUDENTS’ ABILITY IN USING SUB-ORDINATE CONJUNCTION IN SENTENCE WRITING OF THE GRADE XII STUDENTS OF SMA N 2 METRO ACADEMIC YEAR 2013/2014

OpenAIRE

Bambang Eko Siagianto

2017-01-01

Abstracts: Sub-ordinate conjunction is very confusing to comprehend by students. In using sub-ordinate conjunction, students usually had errors. The purpose of this research to analyze whether or not the students are able to use sub-ordinate conjunction in sentence writing, to classify kinds of sub-ordinate conjunction that was often misused by students in sentence writing The research was done at the grade XII of SMA N 2 Metro in second semester of the academic year 2013/2014. The predicted ...

Education for women's empowerment or schooling for women's subordination?

Science.gov (United States)

Longwe, S H

1998-07-01

This article distinguishes between "schooling for subordination," the notion that promotes conventional schooling for women within existing school systems as a possible basis for them to improve their position in society and "education for empowerment," a more radical perspective that links women's advancement with the transformation of the patriarchal social order. The article opens by defining gender training as provision of skills and methods for improved gender-orientation of development programs. The conservative interpretation of gender training holds that it seeks to increase women's access to resources. The radical definition holds that inequality in access to resources is a mere symptom of a deeper problem caused by structural gender inequality and calls for conscientization of this problem. The two definitions of women's empowerment that follow this distinction are 1) a watered-down view of empowerment as self-reliance reflecting the conservative definition and 2) a more robust and pure view of empowerment as enabling women to identify and end the discriminatory practices that block their access to resources. It follows that education may be mere schooling for subordination in systems where patriarchal gatekeepers limit chances for women and where women who do succeed become "honorary males" and "queen bees" intent on repelling the advancement of other women. Education for empowerment can be found in gender training, which holds objectives that are opposite to those found in formal schooling and may be more readily adopted by women with less exposure to formal, patriarchal schools.

17 CFR 240.15c3-1d - Satisfactory Subordination Agreements (Appendix D to 17 CFR 240.15c3-1).

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Satisfactory Subordination...-Counter Markets § 240.15c3-1d Satisfactory Subordination Agreements (Appendix D to 17 CFR 240.15c3-1). (a) Introduction. (1) This Appendix sets forth minimum and non-exclusive requirements for satisfactory...

Encouraging Use of Subordination in Children's Narratives: A Classroom-Based Priming Study

Science.gov (United States)

Hesketh, Anne; Serratrice, Ludovica; Ashworth, Rachel

2016-01-01

This study investigated the long-term effect of classroom-based input manipulation on children's use of subordination in a story re-telling task; it also explored the role of receptive vocabulary skills and expressive grammatical abilities in predicting the likelihood of priming. During a two-week priming phase, 47 monolingual English-speaking…

Ernst Rüdin’s Unpublished 1922-1925 Study “Inheritance of Manic-Depressive Insanity”: Genetic Research Findings Subordinated to Eugenic Ideology

Science.gov (United States)

Kösters, Gundula; Steinberg, Holger; Kirkby, Kenneth Clifford; Himmerich, Hubertus

2015-01-01

In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement. Heredity was assumed to be the principal cause of mental illness. Politicians, scientists and clinicians in North America and Europe called for compulsory sterilisation of the mentally ill. Psychiatric genetic research aimed to prove a Mendelian mode of inheritance as a scientific justification for these measures. Ernst Rüdin’s seminal 1916 epidemiological study on inheritance of dementia praecox featured large, systematically ascertained samples and statistical analyses. Rüdin’s 1922–1925 study on the inheritance of “manic-depressive insanity” was completed in manuscript form, but never published. It failed to prove a pattern of Mendelian inheritance, counter to the tenets of eugenics of which Rüdin was a prominent proponent. It appears he withheld the study from publication, unable to reconcile this contradiction, thus subordinating his carefully derived scientific findings to his ideological preoccupations. Instead, Rüdin continued to promote prevention of assumed hereditary mental illnesses by prohibition of marriage or sterilisation and was influential in the introduction by the National Socialist regime of the 1933 “Law for the Prevention of Hereditarily Diseased Offspring” (Gesetz zur Verhütung erbkranken Nachwuchses). PMID:26544949

Testosterone-dependency of male solo song in a duetting songbird--evidence from females.

Science.gov (United States)

Voigt, Cornelia; Leitner, Stefan

2013-01-01

For male songbirds of the temperate zone there is a tight link between seasonal song behaviour and circulating testosterone levels. Such a relationship does not seem to hold for tropical species where singing can occur year-round and breeding seasons are often extended. White-browed sparrow weavers (Plocepasser mahali) are cooperatively breeding songbirds with a dominant breeding pair and male and female subordinates found in eastern and southern Africa. Each group defends an all-purpose territory year-round. While all group members sing duets and choruses, the most dominant male additionally sings a solo song that comprises a distinct and large syllable repertoire. Previous studies suggested this type of song being associated with reproduction but failed to support a relationship with males' circulating testosterone levels. The present study aimed to investigate the steroid hormone sensitivity of the solo song in more detail. We found that dominant males had significantly higher circulating testosterone levels than subordinates during the early and late breeding seasons. No changes in solo song characteristics were found between both time points. Further, experimental implantation of captive adult females with exogenous testosterone induced solo singing within one week of treatment. Such females produced male-typical song regarding overall structure and syllable composition. Sex differences existed, however, concerning singing activity, repertoire size and temporal organisation of song. These results suggest that solo singing in white-browed sparrow weavers is under the control of gonadal steroid hormones. Moreover, the behaviour is not male-specific but can be activated in females under certain conditions. Copyright © 2012 Elsevier Inc. All rights reserved.

Olfactory cues are subordinate to visual stimuli in a neotropical generalist weevil.

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Fernando Otálora-Luna

Full Text Available The tropical root weevil Diaprepes abbreviatus is a major pest of multiple crops in the Caribbean Islands and has become a serious constraint to citrus production in the United States. Recent work has identified host and conspecific volatiles that mediate host- and mate-finding by D. abbreviatus. The interaction of light, color, and odors has not been studied in this species. The responses of male and female D. abbreviatus to narrow bandwidths of visible light emitted by LEDs offered alone and in combination with olfactory stimuli were studied in a specially-designed multiple choice arena combined with a locomotion compensator. Weevils were more attracted to wavelengths close to green and yellow compared with blue or ultraviolet, but preferred red and darkness over green. Additionally, dim green light was preferred over brighter green. Adult weevils were also attracted to the odor of its citrus host + conspecifics. However, the attractiveness of citrus + conspecific odors disappeared in the presence of a green light. Photic stimulation induced males but not females to increase their speed. In the presence of light emitted by LEDs, turning speed decreased and path straightness increased, indicating that weevils tended to walk less tortuously. Diaprepes abbreviatus showed a hierarchy between chemo- and photo-taxis in the series of experiments presented herein, where the presence of the green light abolished upwind anemotaxis elicited by the pheromone + host plant odor. Insight into the strong responses to visual stimuli of chemically stimulated insects may be provided when the amount of information supplied by vision and olfaction is compared, as the information transmission capacity of compound eyes is estimated to be several orders of magnitude higher compared with the olfactory system. Subordination of olfactory responses by photic stimuli should be considered in the design of strategies aimed at management of such insects.

The B chromosome polymorphism of the grasshopper Eyprepocnemis plorans in North Africa. IV. Transmission of rare B chromosome variants.

Science.gov (United States)

Bakkali, M; Camacho, J P M

2004-01-01

In addition to the principal B chromosome (B(1)) in Moroccan populations of the grasshopper Eyprepocnemis plorans, nine B chromosome variants appeared at low frequency. The transmission of five of these rare B chromosome variants through females was analysed in three natural populations. Sixteen controlled crosses provided useful information on the transmission of B(M2), B(M6) and B(M7) in Smir, B(M3) and B(M6) in SO.DE.A. (Société de Développement Agricole lands near Ksar-el-Kebir city), and B(M2) and B(M10) in Mechra, all located in Morocco. Since six female parents carried two different B variants, a total of 22 progeny analyses could be studied. Intraindividual variation in B transmission rate (k(B)) was observed among the successive egg pods in 26.7 % of the females, but this variation did not show a consistent temporal pattern. Only the B(M2) and B(M6) variants in Smir showed net drive, although variation was high among crosses, especially for B(M2). These two variants are thus good candidates for future regenerations (the replacement of a neutralized B, B(1) in this case, by a new driving variant, B(M2) or B(M6)) in Smir, the northern population where the B polymorphism is presumably older. The analysis of all crosses performed in the three populations, including those reported previously for the analysis of B(1) transmission, showed that the largest variance in k(B) among crosses stands at the individual level, and not at population or type of B levels. The implications of these findings for the occurrence of possible regeneration processes in Moroccan populations are discussed. Copyright 2004 S. Karger AG, Basel

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

Science.gov (United States)

Rengasamy Venugopalan, S; Farrow, E G; Lypka, M

2017-06-01

Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings. The objective of this study was to demonstrate the critical role of whole-exome sequencing in establishing a genetic diagnosis of the proband. The participants were 14½-year-old affected female proband/parent trio. Proband/parent trio were enrolled in the study. Surgical tissue sample from the proband and parental blood samples were collected and prepared for whole-exome sequencing. Illumina HiSeq 2500 instrument was used for sequencing (125 nucleotide reads/84X coverage). Analyses of variants were performed using custom-developed software, RUNES and VIKING. Variant analyses following whole-exome sequencing identified a heterozygous de novo pathogenic variant, c.259C>T (p.Gln87*), in EFTUD2 (NM_004247.3) gene in the proband. Previous studies have reported that the variants in EFTUD2 gene were associated with Mandibulofacial Dysostosis with Microcephaly. Patients with facial asymmetry, micrognathia, choanal atresia and microcephaly should be analyzed for variants in EFTUD2 gene. Next-generation sequencing techniques, such as whole-exome sequencing offer great promise to improve the understanding of etiologies of sporadic genetic diseases. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

7 CFR 1962.30 - Subordination and waiver of liens on chattel security.

Science.gov (United States)

2010-01-01

... necessary to provide the lender with the security it requires to make the loan; (2) Approval of a... the value of the loan security will be increased by at least the amount of the advances to be made... requirements of this section, subordinations on chattel security to make a guaranteed loan will be approved in...

Proposal and Evaluation of Subordinate Standard Solar Irradiance Spectra for Applications in Solar Energy Systems

Energy Technology Data Exchange (ETDEWEB)

Habte, Aron M [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Jessen, Wilko [German Aerospace Center (DLR); Wilbert, Stefan [German Aerospace Center (DLR); Gueymard, Christian A. [Solar Consulting Services; Polo, Jesus [CIEMAT; Bian, Zeqiang [China Meteorological Administration; Driesse, Anton [Photovoltaic Performance Labs; Marzo, Aitor [University of Antofagasta; Armstrong, Peter [Masdar Institute of Science & Technology; Vignola, Frank [University of Oregon; Ramirez, Lourdes [CIEMAT

2018-04-01

Reference solar irradiance spectra are needed to specify key parameters of solar technologies such as photovoltaic cell efficiency, in a comparable way. The IEC 60904-3 and ASTM G173 standards present such spectra for Direct Normal Irradiance (DNI) and Global Tilted Irradiance (GTI) on a 37 degrees tilted sun-facing surface for one set of clear-sky conditions with an air mass of 1.5 and low aerosol content. The IEC/G173 standard spectra are the widely accepted references for these purposes. Hence, the authors support the future replacement of the outdated ISO 9845 spectra with the IEC spectra within the ongoing update of this ISO standard. The use of a single reference spectrum per component of irradiance is important for clarity when comparing and rating solar devices such as PV cells. However, at some locations the average spectra can differ strongly from those defined in the IEC/G173 standards due to widely different atmospheric conditions and collector tilt angles. Therefore, additional subordinate standard spectra for other atmospheric conditions and tilt angles are of interest for a rough comparison of product performance under representative field conditions, in addition to using the main standard spectrum for product certification under standard test conditions. This simplifies the product selection for solar power systems when a fully-detailed performance analysis is not feasible (e.g. small installations). Also, the effort for a detailed yield analyses can be reduced by decreasing the number of initial product options. After appropriate testing, this contribution suggests a number of additional spectra related to eight sets of atmospheric conditions and tilt angles that are currently considered within ASTM and ISO working groups. The additional spectra, called subordinate standard spectra, are motivated by significant spectral mismatches compared to the IEC/G173 spectra (up to 6.5%, for PV at 37 degrees tilt and 10-15% for CPV). These mismatches

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

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Eva Hebert

2017-10-01

Full Text Available Mutations in RAB (member of the Ras superfamily genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD and writer’s dystonia (WD are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson’s disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1% but only one carrier in non-dystonic individuals (0.1%; p = 0.005. The detected variants among index patients comprised p.Ile196Val (n = 6; p.Ala174Thr (n = 3; p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP, so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias.

Cough-variant asthma: a diagnostic dilemma in the occupational setting.

Science.gov (United States)

Lipińska-Ojrzanowska, A; Wiszniewska, M; Walusiak-Skorupa, J

2015-03-01

Cough-variant asthma (Corrao's syndrome) is defined as the presence of chronic non-productive cough in patients with bronchial hyperresponsiveness (BHR) and response to bronchodilator therapy. This variant of asthma may present a diagnostic problem in occupational medicine. To describe additional evaluation of cough-variant asthma in a cyanoacrylate-exposed worker in whom standard diagnostic testing was negative. A female beautician was evaluated for suspected occupational allergic rhinitis and asthma. A specific inhalation challenge test (SICT) was performed with cyanoacrylate glues used for applying artificial eyelashes and nails. Spirometry and peak expiratory flow (PEF) measurements were recorded hourly for 24h; methacholine challenge testing was performed and nasal lavage (NL) samples were analysed for eosinophilia. After SICT, the patient developed sneezing, nasal airflow obstruction and cough. Declines in forced expiratory volume in 1 s and PEF were not observed. Eosinophil proportions in NL fluid increased markedly at 4 and 24h after SICT. A significant increase in BHR also occurred 24h after SICT. Clinical symptoms, post-challenge BHR and increased NL eosinophil counts confirmed a positive response to SICT and validated the diagnosis of cough-variant occupational asthma. SICT may be useful in cases where history and clinical data suggest cough-variant asthma and spirometric indices are negative. © The Author 2014. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Wicket spikes: a case-control study of a benign eletroencephalografic variant pattern "Wicket spikes": estudo de variante eletrográfica benigna

Directory of Open Access Journals (Sweden)

MARCUS SABRY AZAR BATISTA

1999-09-01

Full Text Available Wicket spikes (WS are a benign eletroencephalogram (EEG variant, seen mainly in adults, during somnolence, in the temporal regions, in many clinical situations. WS can appear in trains or isolatedly, sometimes being difficult to differentiate from epileptiform activity. We reviewed 2,000 EEG's, found 65 with WS (3.25% and compared them with 65 normal EEG without WS. There was statistically significant (SS association between WS and age over 33; adolescent age was correlated to absence of WS and age over 65, to the presence of WS; there was an inverse correlation between WS and epilepsy, related to differences in age; a SS association with cerebrovascular disorders disappeared after controlling for age; a SS correlation with headache was also related to age; female predominance was not SS. There was a great variety of clinical situation associated with WS. We conclude that WS are a inespecific normal variant of the EEG that is age-related.As Wicket spikes (WS são um padrão benigno, variante da normalidade do eletrencefalograma (EEG, vistas principalmente em adultos, durante a sonolência, nas regiões temporais, em situações clínicas variadas. WS aparecem em "trens" ou isoladamente, podendo ser difícil diferenciá-las de atividade epileptiforme. Nós revisamos 2.000 EEG e encontramos 65 com WS (3,25% e os comparamos a 65 EEG 's normais sem WS. Encontramos associação estatisticamente significante (ES entre WS e idade acima de 33 anos; adolescência e ausência de WS e idade acima de 65 e presença de WS. Houve correlação inversa entre WS e epilepsia, explicada por diferenças nas médias de idade. A correlação ES entre WS e doença cerebrovascular desapareceu após controlarmos a idade. A correlação ES a cefaléia dependeu de sua relação à idade. A predominância do sexo feminino não foi ES. Houve maior variedade de situações clínicas associadas a WS. WS são uma variante normal do EEG, idade-relacionada.

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

DEFF Research Database (Denmark)

Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning

2017-01-01

Fabry disease is an X- linked inherited lysosomal storage disease caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A). The possible pathological significance of the D313Y variant in the GLA gene has not been verified and it may be a Fabry variant. Our......, and the presence in Fabry females did not significantly enhance the phenotype of a known causative mutation in the GLA gene (G271S). Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. The D313Y variant in the GLA gene was not disease causative in 2 Danish...... families. Investigating male family members were crucial in excluding the Fabry phenotype, and thus very important for proper genetic counceling of all family members, as well as overdiagnosing a devastating genetic disease....

[Genetic variants in miRNAs and its association with breast cancer].

Science.gov (United States)

Méndez-Gómez, Susana; Ruiz Esparza-Garrido, Ruth; Velázquez-Flores, Miguel; Dolores-Vergara, Maria; Salamanca-Gómez, Fabio; Arenas-Aranda, Diego Julio

2014-01-01

In Mexico, breast cancer represents the first cause of cancer death in females. At the molecular level, non-coding RNAs and especially microRNAs have played an important role in the origin and development of this neoplasm In the Anglo-Saxon population, diverse genetic variants in microRNA genes and in their targets are associated with the development of this disease. In the Mexican population it is not known if these or other variants exist. Identification of these or new variants in our population is fundamental in order to have a better understanding of cancer development and to help establish a better diagnostic strategy. DNA was isolated from mammary tumors, adjacent tissue and peripheral blood of Mexican females with or without cancer. From DNA, five microRNA genes and three of their targets were amplified and sequenced. Genetic variants associated with breast cancer in an Anglo- Saxon population have been previously identified in these sequences. In the samples studied we identified seven single nucleotide polymorphisms (SNPs). Two had not been previously described and were identified only in women with cancer. The new variants may be genetic predisposition factors for the development of breast cancer in our population. Further experiments are needed to determine the involvement of these variants in the development, establishment and progression of breast cancer.

Immunologic basis of resistance to rl male 1 induced by immunoselected thy-1.2 negative variants

International Nuclear Information System (INIS)

Buxbaum, J.N.; Basch, R.S.

1980-01-01

Variant cell lines that have lost the Thy-1 antigen have a reduced capacity to induce tumors in syngeneic recipients when compared to Thy-1 positive clones. The negative variants are cloned, cultured cells obtained from the Thy-1.2(theta) positive BALB/c lymphoma RL male 1 in a single-step immunoselection procedure. The reduction appears to be related to an alteration in the host response to the tumor, since both the variant and parental cells induce tumors equally well in irradiated mice. Males are much more susceptible to the inoculated tumor cells, suggesting that the relevant response is restricted to females. A majority of female animals that survive challenge with the variant do not allow growth of the parental tumor when they are injected with a quantity of cells that is uniformly fatal in untreated recipients. Most of the surviving females have an antibody in their sera that is cytotoxic for the variant, its parent, and normal thymocytes. None of the few surviving males had significant titers of the antibody. Cell-mediated immunity directed toward the positive and negative tumor cells was demonstrable in half the surviving animals of both sexes

Gender Bias in The Rural Community as Reflected in Minfong Ho’s Sing to The Dawn

Directory of Open Access Journals (Sweden)

Hermanus Wahyaka

2017-01-01

Full Text Available This study aims at identifying the evidences of gender-biased behaviour and actions and at finding the possible reasons why those gender-biased behaviour and actions happen within the life of the rural community as depicted in the novel. The problems, therefore, are formulated as follows: 1. What are the evidences of gender-biased behaviour and actions experienced by the major female characters of Ho’sSing to the Dawn?and 2. Why do the gender-biased behaviour and actions occur within the life of the rural communityas in Ho’sSing to the Dawn? This study is a library research. The primary source is the novel itself, Sing to the Dawn. The secondary sources are obtained from several relevant books related to literary theories such as the critical approach, the theory of gender, the theory of society, and the review of Thai society. In order to relate the gender bias and a certain community, the socio-cultural approach is used to examine the novel. This study found that gender biased behaviour and actions committed by the male characters towards the major female characters manifest in several manners; they are subordination of women, mental violence, violent intention, physical violence, sex role stereotyping, and marginalization. The possible reasons enabling the manifestation of gender biased behaviour and actions committed by the male characters towards the major female characters are cultural construction on women subordination, cultural construction on sex roles stereotyping as the result of patriarchal system, religious misinterpretation, and poverty.   DOI: https://doi.org/10.24071/llt.2012.150205

Leader motives, charismatic leadership and subordinates' work attitude in the profit and voluntary sector

NARCIS (Netherlands)

de Hoogh, A.H.B.; den Hartog, D.N.; Koopman, P.L.; Thierry, Hk.; van den Berg, P.T.; van der Weide, J.G.; Wilderom, C.P.M.

2005-01-01

This multimethod study examined leaders' motives, charismatic leader behavior, and subordinates' work attitude for CEOs (N=73) of small and medium-sized organizations in two sectors, namely, the profit and voluntary sector. Interviews with CEOs were coded for motive imagery. Direct reports rated CEO

A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.

Science.gov (United States)

Nisar, Shaista P; Lordkipanidzé, Marie; Jones, Matthew L; Dawood, Ban; Murden, Sherina; Cunningham, Margaret R; Mumford, Andrew D; Wilde, Jonathan T; Watson, Steve P; Mundell, Stuart J; Lowe, Gillian C

2014-05-05

A small number of thromboxane receptor variants have been described in patients with a bleeding history that result in platelet dysfunction. We have identified a patient with a history of significant bleeding, who expresses a novel heterozygous thromboxane receptor variant that predicts an asparagine to serine substitution (N42S). This asparagine is conserved across all class A GPCRs, suggesting a vital role for receptor structure and function.We investigated the functional consequences of the TP receptor heterozygous N42S substitution by performing platelet function studies on platelet-rich plasma taken from the patient and healthy controls. We investigated the N42S mutation by expressing the wild-type (WT) and mutant receptor in human embryonic kidney (HEK) cells. Aggregation studies showed an ablation of arachidonic acid responses in the patient, whilst there was right-ward shift of the U46619 concentration response curve (CRC). Thromboxane generation was unaffected. Calcium mobilisation studies in cells lines showed a rightward shift of the U46619 CRC in N42S-expressing cells compared to WT. Radioligand binding studies revealed a reduction in BMax in platelets taken from the patient and in N42S-expressing cells, whilst cell studies confirmed poor surface expression. We have identified a novel thromboxane receptor variant, N42S, which results in platelet dysfunction due to reduced surface expression. It is associated with a significant bleeding history in the patient in whom it was identified. This is the first description of a naturally occurring variant that results in the substitution of this highly conserved residue and confirms the importance of this residue for correct GPCR function.

Subordinate clause comprehension and tense/agreement inconsistency in children with specific language impairment.

Science.gov (United States)

Souto, Sofía M; Leonard, Laurence B; Deevy, Patricia; Fey, Marc E; Bredin-Oja, Shelley L

2016-01-01

Several recent studies have suggested that the production errors of children with specific language impairment (SLI) such as The girl singing may be explained by a misinterpretation of grammatical adult input containing a similar structure (e.g., The boy hears the girl singing). Thirteen children with SLI and 13 younger typically developing children with comparable sentence comprehension test scores (TD-COMP) completed a comprehension task to assess their understanding of sentences involving a nonfinite subject-verb sequence in a subordinate clause such as The dad sees the boy running. TD-COMP children were more accurate on subordinate clause items than children with SLI despite similar performance on simple transitive (e.g., The horse sees the cow) and simple progressive (e.g., The cow is eating) items. However, no relationship was found between the SLI group's specific subordinate clause comprehension level and their specific level of auxiliary is production, casting some doubt on this type of structure as a source for inconsistent use of auxiliary is. The reader will learn that children with specific language impairment (SLI): (1) have difficulty understanding complex sentences that include nonfinite subject-verb sequences; (2) that this difficulty is apparent in comparison to younger typically developing peers who have similar scores not only on a sentence comprehension test, but also on simple sentences that correspond to the component parts of the complex sentences; and (3) that this weakness is concurrent with these children's inconsistent use of auxiliary is in production. Although novel verb studies show a clear connection between how children with SLI hear new verbs and how they use them, we do not yet have evidence that this connection is tied to a poor understanding of the input sentences that house the verbs. Copyright © 2016 Elsevier Inc. All rights reserved.

Beyond Phallic Domain: Female Otherness as a Resource for Liberation: Some Notes From Lacanian Psychoanalysis and Poststructuralist Feminism.

Science.gov (United States)

Gonzalez-Barrientos, Marcela; Napolitano, Stefania

2015-06-01

The article explores the political derivations of psychoanalytical discourse on femininity, starting from the impact of Lacanian positions on feminist thought. The consideration of a dimension of absolute otherness of female sexuality, irreducible to masculinity and to a phallic domain--not-all phallic--theorized by Lacan in the 1970s, opens up many complex issues for the politics of women's liberation. It is a matter of living the absolute difference without either radically excluding it from the speakable or letting it be part of a romantic imagery of the otherness that perpetuates sexual hierarchy and, consequently, female subordination. Taking up the proposal of such authors as Julia Kristeva or Silvia Tubert, we suggest that the Lacanian theory offers the conceptual tools to shift from exclusion to re-volt, from the place of the Other as a pedestal for the Same to a political function of female otherness and of the "not-all" that it represents: a part of the Kultur and its difficulties, but not entangled in it to the point that it cannot bring any innovation.

Subordinating careers to market forces? A critical analysis of European career guidance policy

Directory of Open Access Journals (Sweden)

Ingela Bergmo-Prvulovic

2012-10-01

Full Text Available This study explores language regarding career and career development in European policy documents on career guidance in order to disclose underlying view(s of these phenomena conveyed in the texts. Qualitative content analysis was used to approach the subject in the texts, followed by a sender-oriented interpretation. Sources for interpretation include several sociological and pedagogical approaches based upon social constructionism. These provide a framework for understanding how different views of career phenomena arise. The characterization of career phenomena in the documents falls into four categories: contextual change, environment-person correspondence, competence mobility, and empowerment. An economic perspective on career dominates, followed by learning and political science perspectives. Policy formulations convey contradictory messages and a form of career 'contract' that appears to subordinate individuals' careers to global capitalism, while attributing sole responsibility for career to individuals.

Bullous Variant of Sweet’s Syndrome after Herpes Zoster Virus Infection

OpenAIRE

Yuichiro Endo; Miki Tanioka; Hideaki Tanizaki; Minako Mori; Hiroshi Kawabata; Yoshiki Miyachi

2011-01-01

Aim: Cutaneous manifestations of Sweet’s syndrome (SS) are typically painful plaque-forming erythematous papules, while bullae are quite uncommon. We present a case of bullous variant of SS in acute myeloid leukaemia. In this case, herpes infection of the left mandible had preceded the development of SS. Case Report: A 75-year-old male with myelodysplastic syndrome first presented with herpes zoster virus infection-like bullae and erosive plaques on the left side of the face and neck. Treatme...

Evaluating the performance of the Lee-Carter method and its variants in modelling and forecasting Malaysian mortality

Science.gov (United States)

Zakiyatussariroh, W. H. Wan; Said, Z. Mohammad; Norazan, M. R.

2014-12-01

This study investigated the performance of the Lee-Carter (LC) method and it variants in modeling and forecasting Malaysia mortality. These include the original LC, the Lee-Miller (LM) variant and the Booth-Maindonald-Smith (BMS) variant. These methods were evaluated using Malaysia's mortality data which was measured based on age specific death rates (ASDR) for 1971 to 2009 for overall population while those for 1980-2009 were used in separate models for male and female population. The performance of the variants has been examined in term of the goodness of fit of the models and forecasting accuracy. Comparison was made based on several criteria namely, mean square error (MSE), root mean square error (RMSE), mean absolute deviation (MAD) and mean absolute percentage error (MAPE). The results indicate that BMS method was outperformed in in-sample fitting for overall population and when the models were fitted separately for male and female population. However, in the case of out-sample forecast accuracy, BMS method only best when the data were fitted to overall population. When the data were fitted separately for male and female, LCnone performed better for male population and LM method is good for female population.

The interaction of glutathione S-transferase M1-null variants with tobacco smoke exposure and the development of childhood asthma

DEFF Research Database (Denmark)

Rogers, A J; Brasch-Andersen, C; Ionita-Laza, I

2009-01-01

BACKGROUND: The glutathione S-transferase M1 (GSTM1)-null variant is a common copy number variant associated with adverse pulmonary outcomes, including asthma and airflow obstruction, with evidence of important gene-by-environment interactions with exposures to oxidative stress. OBJECTIVE: To exp...

Factors Related to How Superiors Establish Goals and Review Performance for Their Subordinates.

Science.gov (United States)

Carroll, Stephen J., Jr.; And Others

The objective of the study was to identify the characteristics of the superior, the subordinate, and the situation which were related to the manner in which the "Management by Objectives" (MBO) process is carried out. Data collected from 112 managers in a national industrial firm was used in the analysis. Previous research with this data had…

Sex-specific associative learning cues and inclusive fitness benefits in the Seychelles warbler.

Science.gov (United States)

Richardson, D S; Burke, T; Komdeurs, J

2003-09-01

In cooperative breeding vertebrates, indirect fitness benefits would be maximized by subordinates that accurately assess their relatedness to group offspring and preferentially help more closely related kin. In the Seychelles warbler (Acrocephalus sechellensis), we found a positive relationship between subordinate-nestling kinship (determined using microsatellite marker genotypes) and provisioning rates, but only for female subordinates. Female subordinates that helped were significantly more related to the nestlings than were nonhelpers, and the decision to help appears to be based on associative learning cues. High levels of female infidelity means that subordinates cannot trust their legitimacy through the male line, consequently they appear to use the continued presence of the primary female, but not the primary male, as a reliable cue to determine when to feed nestlings. By using effective discrimination, female subordinates are able to maximize the indirect benefits gained within a cooperative breeding system otherwise driven primarily by direct breeding benefits.

Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

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Marina V. Shulskaya

2018-05-01

Full Text Available Background: Parkinson’s disease (PD is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES technology has been used successfully to find mutations in large families. However, because of the late onset of the disease, only small families and unrelated patients are usually available. WES conducted in such cases yields in a large number of candidate variants. There are currently a number of imperfect software tools that allow the pathogenicity of variants to be evaluated.Objectives: We analyzed 48 unrelated patients with an alleged autosomal dominant familial form of PD using WES and developed a strategy for selecting potential pathogenetically significant variants using almost all available bioinformatics resources for the analysis of exonic areas.Methods: DNA sequencing of 48 patients with excluded frequent mutations was performed using an Illumina HiSeq 2500 platform. The possible pathogenetic significance of identified variants and their involvement in the pathogenesis of PD was assessed using SNP and Variation Suite (SVS, Combined Annotation Dependent Depletion (CADD and Rare Exome Variant Ensemble Learner (REVEL software. Functional evaluation was performed using the Pathway Studio database.Results: A significant reduction in the search range from 7082 to 25 variants in 23 genes associated with PD or neuronal function was achieved. Eight (FXN, MFN2, MYOC, NPC1, PSEN1, RET, SCN3A and SPG7 were the most significant.Conclusions: The multistep approach developed made it possible to conduct an effective search for potential pathogenetically significant variants, presumably involved in the pathogenesis of PD. The data obtained need to be further verified experimentally.

Detection of S-gene 'a' determinant variants in hepatitis B patients with both positive HBsAg and HBsAb markers

International Nuclear Information System (INIS)

Wu Yueping; Ling Yongwu; Huang Songping; Wang Shipeng; Chen Yufeng; Mao Liping; Lu Jianrong

2005-01-01

Objective: To explore the S-gene 'a' determinant variants in hepatitis B patients with both positive HBsAg and HBsAb markers and the effect on the antigenicity of HBsAg. Methods: Quantitative determination of HBV - DNA with competent PCR microfluidic chit method was performed in eight sera specimens from seven hepatitis B patients with both positive HBsAg and HBsAb markers. HBV S-gene was amplified with nested PCR, the PCR product was directly examined for any sequence variant of the amino acids. HBV markers were tested with the very sensitive ELISA/MEIA method in these seven patients. The above rests were also performed in 15 children after failed immunization with hepatitis B vaccine and 9 recipients of liver transplantation for terminal hepatitis B treated with HBIG and lamivudine, serving as controls. Results: The HBsAb contents in the seven patients were all below 80 mIu/ml. Two of the patients with positive HBV-DNA showed no 'a' determinant variant. Two of the four HBV-DNA negative patients demonstrated amino-acid variants (126, 131). One patients who was originally HBV-DNA positive but later turned negative after treatment with interferon and lamivudine demonstrated variant (126). In the 9 patients after successful liver transplantation, the HBsAb contents were all about 150mIu/ml with negative HBV-DNA and no variant. In the 15 immunization failures, HBV-DNA was positive in 14 of them, with 2 cases of variant at 145, 1 case at 126 and 1 case at 134. Conclusion: In some patients with chronic B hepatitis with both positive HBsAg and HBsAb markers, as well as in some vaccine immunization failures, there were 'a' determinant variants, which might alter the antigenicity of HBsAg with escape from the neutralization of low HBsAb. The 'a' determinant variant might also affect the replication of the virus. In this study, no variant was shown in patients after successful liver transplantation. However, the number of patients was too small and the result was of no

Atomic Energy Act (AtG) and subordinate legislation. Collections. 35. ed.; Atomgesetz mit Verordnungen. Textsammlung

Energy Technology Data Exchange (ETDEWEB)

Ziegler, Eberhard (ed.)

2018-03-01

The Atomic Energy Act (AtG) and subordinate legislation covers the following issues: The German constitution, the atomic energy act, subordinate process regulations, radiation protection regulation, X-ray regulation, financial security regulation, cost regulations, safety delegate and reporting regulations, law on the installation of a Federal Office for nuclear disposal security, site selection law, final repository advance financing, radioactive waste transport regulation, disposal fund law, regulation on the payment receipt according to the disposal fund law, transitional disposal law, transparency law, run-off liability law, law on the installation of the Federal office for radiation protection, radiation protection law, food irradiation law, regulation on drug treatment with radioactivity or ionizing radiation, Paris agreement on nuclear liabilities and additional agreement, joint protocol on the application of the Vienna and Paris agreements, environmental compatibility assessment law, criminal code (partial), state competence regulations on the execution of regulations according the atomic energy act.

Edna’s Failure to Find Her Female Role in Kate Chopin’s The Awakening

OpenAIRE

Kämpenberg, Kristin

2007-01-01

In The Awakening we meet Edna, a woman in search of her female identity. She is uncomfortable in her role as the “patriarchal woman” and has trouble becoming either a “modern woman” or an “emancipated woman” To fully understand Edna’s search one must understand the patriarchal society in Chopin’s works and what it means to internalize this system. Edna searches for a different female role than that of the “patriarchal woman” but she has problems internalizing any one of the roles due to her p...

Female Urethral Anomalies in Pediatric Age Group: Uncovered

African Journals Online (AJOL)

Urogenital sinus in females (ectopia of the external urethral opening in the urogenital sinus). All the variants of female hypospadias must be surgically corrected as transposition of the external opening of the urethra from the vagina on the perineum under the clitoris in chronic urethritis. The second case mentioned above.

17 CFR 402.2d - Appendix D-Modification of § 240.15c3-1d of this title, relating to satisfactory subordination...

Science.gov (United States)

2010-04-01

... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Appendix D-Modification of § 240.15c3-1d of this title, relating to satisfactory subordination agreements, for purposes of § 402.2...—Modification of § 240.15c3-1d of this title, relating to satisfactory subordination agreements, for purposes of...

Great Divides: The Cultural, Cognitive, and Social Bases of the Global Subordination of Women

Science.gov (United States)

Epstein, Cynthia Fuchs

2007-01-01

Categorization based on sex is the most basic social divide. It is the organizational basis of most major institutions, including the division of labor in the home, the workforce, politics, and religion. Globally, women's gendered roles are regarded as subordinate to men's. The gender divide enforces women's roles in reproduction and support…

Media Representation of Taiwan’s New Female Immigrants in Documentaries

Directory of Open Access Journals (Sweden)

Tzu-Ting Huan

2015-08-01

Full Text Available Today the new female immigrants mainly from China and ASEAN countries have become large ethnic groups in Taiwan, accompanied by the negative labels and stereotypes of “money marriage”, “commoditized female” and “mercenary marriage” reproduced by the media. Above all, the rhetoric of “foreign bride” hinted that the underprivileged “Others” are hard to integrate into the Taiwan society. To explore the image of these immigrants, this article aims to discuss about the meaning of the media representation of Taiwan’s new female immigrants in documentaries. It takes two documentaries as the main texts to be discussed and by interpretation of shots, language and political/social implications used in these documentaries to produce representation and reflection on these immigrants, it analyzes how these documentaries present the various issues of Taiwan’s new female immigrants and the implication for multiculturalism and the transforming process of these new female immigrants’ position from “outsiders” to “insiders” in the Taiwan society.

Diffuse sclerosing variant of papillary carcinoma of the thyroid. Clinical importance, surgical treatment, and follow-up study

Energy Technology Data Exchange (ETDEWEB)

Fujimoto, Y.; Obara, T.; Ito, Y.; Kodama, T.; Aiba, M.; Yamaguchi, K. (Tokyo Women' s Medical College (Japan))

1990-12-01

A diffuse sclerosing variant is not very rare among papillary carcinomas of the thyroid when the patients are female and younger than 30 years of age. The variant is characterized by diffuse involvement of one or both thyroid lobes, with dense sclerosis, patchy lymphocytic infiltration, and abundant psammoma bodies. Controversy still exists concerning its prognosis. We reviewed our experience with 14 patients treated between 1958 and 1988. All patients were young females, their age being from 10 to 28 years with a mean of 19.6. Hashimoto's thyroiditis had been suspected in nine patients before they came to our clinic. Nowadays the diagnosis of this cancer is possible when we have this entity in mind and detect abundant psammoma bodies either by ultrasonography or by soft-tissue roentgenography of the neck. Total thyroidectomy with modified neck dissection was carried out in eight patients, subtotal thyroidectomy with neck dissection in five, and lobectomy with neck dissection in one. All of them are alive and well without distant metastasis at a mean follow-up of 16 years. Because most of the patients with this variant of papillary carcinoma are young women and the prognosis is favorable, a complete resection without causing later recurrence, but also cosmetic and complication-free surgery, should be considered.

A sibship with a mild variant of Zellweger syndrome

NARCIS (Netherlands)

Barth, P. G.; Schutgens, R. B.; Wanders, R. J.; Heymans, H. S.; Moser, A. E.; Moser, H. W.; Bleeker-Wagemakers, E. M.; Jansonius-Schultheiss, K.; Derix, M.; Nelck, G. F.

1987-01-01

A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver

Joint associations between genetic variants and reproductive factors in glioma risk among women.

Science.gov (United States)

Wang, Sophia S; Hartge, Patricia; Yeager, Meredith; Carreón, Tania; Ruder, Avima M; Linet, Martha; Inskip, Peter D; Black, Amanda; Hsing, Ann W; Alavanja, Michael; Beane-Freeman, Laura; Safaiean, Mahboobeh; Chanock, Stephen J; Rajaraman, Preetha

2011-10-15

In a pooled analysis of 4 US epidemiologic studies (1993-2001), the authors evaluated the role of 5 female reproductive factors in 357 women with glioma and 822 controls. The authors further evaluated the independent association between 5 implicated gene variants and glioma risk among the study population, as well as the joint associations of female reproductive factors (ages at menarche and menopause, menopausal status, use of oral contraceptives, and menopausal hormone therapy) and these gene variants on glioma risk. Risk estimates were calculated as odds ratios and 95% confidence intervals that were adjusted for age, race, and study. Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population. Compared with women who had an early age at menarche (<12 years of age), those who reported menarche at 12-13 years of age or at 14 years of age or older had a 1.7-fold higher risk and a 1.9-fold higher risk of glioma, respectively (P for trend = 0.009). Postmenopausal women and women who reported ever having used oral contraceptives had a decreased risk of glioma. The authors did not observe joint associations between these reproductive characteristics and the implicated glioma gene variants. These results require replication, but if confirmed, they would suggest that the gene variants that have previously been implicated in the development of glioma are unlikely to act through the same hormonal mechanisms in women.

Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease

Science.gov (United States)

Sims, Rebecca; van der Lee, Sven J.; Naj, Adam C.; Bellenguez, Céline; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W.; Boland, Anne; Raybould, Rachel; Bis, Joshua C.; Martin, Eden R.; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B.; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R.; Olaso, Robert; Hoffmann, Per; Grove, Megan L.; Vardarajan, Badri N.; Hiltunen, Mikko; Nöthen, Markus M.; White, Charles C.; Hamilton-Nelson, Kara L.; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W.; Dulary, Cécile; Herms, Stefan; Smith, Albert V.; Funk, Cory C.; Derbois, Céline; Forstner, Andreas J.; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L.; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A.; Qu, Liming; Sanchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J.; Zhao, Yi; Garcia, Florentino Sanchez; Denning, Nicola; Fornage, Myriam; Malamon, John; Naranjo, Maria Candida Deniz; Majounie, Elisa; Mosley, Thomas H.; Dombroski, Beth; Wallon, David; Lupton, Michelle K; Dupuis, Josée; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B.; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D.; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H.; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L. Adrienne; Price, Nathan D; Hannequin, Didier; Frank-García, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S.; Giedraitis, Vimantas; Hampel, Harald; Garcia, Melissa E.; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K.; Pasquier, Florence; Boccardi, Virginia; Henández, Isabel; Barber, Robert C.; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M.; Leber, Markus; Chen, Yuning; Albert, Marilyn S.; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S.; Spalletta, Gianfranco; Longstreth, WT; Fairchild, Thomas J.; Bossù, Paola; Lopez, Oscar L.; Frosch, Matthew P.; Sacchinelli, Eleonora; Ghetti, Bernardino; Sánchez-Juan, Pascual; Yang, Qiong; Huebinger, Ryan M.; Jessen, Frank; Li, Shuo; Kamboh, M. Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J.; Corcoran, Chris; Himali, Jayanadra J.; Keene, C. Dirk; Tschanz, JoAnn; Fitzpatrick, Annette L.; Kukull, Walter A.; Norton, Maria; Aspelund, Thor; Larson, Eric B.; Munger, Ron; Rotter, Jerome I.; Lipton, Richard B.; Bullido, María J; Hofman, Albert; Montine, Thomas J.; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C.; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M.; Gallo, Maura; O’Donnell, Christopher J.; Reisch, Joan S.; Bruni, Amalia Cecilia; Royall, Donald R.; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W.; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R.; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C; Bras, Jose; Guerreiro, Rita; Hardy, John; Al-Chalabi, Ammar; Shaw, Christopher E; Collinge, John; Mann, David; Tsolaki, Magda; Clarimón, Jordi; Sussams, Rebecca; Lovestone, Simon; O’Donovan, Michael C; Owen, Michael J; Behrens, Timothy W.; Mead, Simon; Goate, Alison M.; Uitterlinden, Andre G.; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A.; Powell, John; Golde, Todd E.; Graff, Caroline; De Jager, Philip L.; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M.; Passmore, Peter; Younkin, Steven G; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W.; Dartigues, Jean-Francois; DeStefano, Anita L.; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John “Keoni”; Farrer, Lindsay A.; Van Broeckhoven, Christine; Ikram, M. Arfan; Jones, Lesley; Haines, Johnathan; Tzourio, Christophe; Launer, Lenore J.; Escott-Price, Valentina; Mayeux, Richard; Deleuze, Jean-François; Amin, Najaf; Holmans, Peter A; Pericak-Vance, Margaret A.; Amouyel, Philippe; van Duijn, Cornelia M.; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D.

2017-01-01

Introduction We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development. PMID:28714976

Comparison of the BioRad Variant and Primus Ultra2 high-pressure liquid chromatography (HPLC) instruments for the detection of variant hemoglobins.

Science.gov (United States)

Gosselin, R C; Carlin, A C; Dwyre, D M

2011-04-01

Hemoglobin variants are a result of genetic changes resulting in abnormal or dys-synchronous hemoglobin chain production (thalassemia) or the generation of hemoglobin chain variants such as hemoglobin S. Automated high-pressure liquid chromatography (HPLC) systems have become the method of choice for the evaluation of patients suspected with hemoglobinopathies. In this study, we evaluated the performance of two HPLC methods used in the detection of common hemoglobin variants: Variant and Ultra2. There were 377 samples tested, 26% (99/377) with HbS, 8.5% (32/377) with HbC, 20.7% (78/377) with other hemoglobin variant or thalassemia, and 2.9% with increased hemoglobin A(1) c. The interpretations of each chromatograph were compared. There were no differences noted for hemoglobins A(0), S, or C. There were significant differences between HPLC methods for hemoglobins F, A(2), and A(1) c. However, there was good concordance between normal and abnormal interpretations (97.9% and 96.2%, respectively). Both Variant and Ultra2 HPLC methods were able to detect most common hemoglobin variants. There was better discrimination for fast hemoglobins, between hemoglobins E and A(2), and between hemoglobins S and F using the Ultra2 HPLC method. © 2010 Blackwell Publishing Ltd.

Reward Behavior by Male and Female Leaders: A Causal Inference Analysis.

Science.gov (United States)

Szilagyi, Andrew D.

1980-01-01

Investigated causal inferences between leader reward behavior and subordinate goal attainment, absenteeism, and work satisfaction. Results revealed that no significant differences were attributed to sex and that the leader reward behavior and subordinate attitudes and behavior were independent of the effects of sex of supervisor or subordinate.…

Dahl (S x R congenic strain analysis confirms and defines a chromosome 5 female-specific blood pressure quantitative trait locus to <7 Mbp.

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Victoria L M Herrera

Full Text Available The detection of multiple sex-specific blood pressure (BP quantitative trait loci (QTLs in independent total genome analyses of F2 (Dahl S x R-intercross male and female rat cohorts confirms clinical observations of sex-specific disease cause and response to treatment among hypertensive patients, and mandate the identification of sex-specific hypertension genes/mechanisms. We developed and studied two congenic strains, S.R5A and S.R5B introgressing Dahl R-chromosome 5 segments into Dahl S chromosome 5 region spanning putative BP-f1 and BP-f2 QTLs. Radiotelemetric non-stressed 24-hour BP analysis at four weeks post-high salt diet (8% NaCl challenge, identified only S.R5B congenic rats with lower SBP (-26.5 mmHg, P = 0.002, DBP (-23.7 mmHg, P = 0.004 and MAP (-25.1 mmHg, P = 0.002 compared with Dahl S female controls at four months of age confirming BP-f1 but not BP-f2 QTL on rat chromosome 5. The S.R5B congenic segment did not affect pulse pressure and relative heart weight indicating that the gene underlying BP-f1 does not influence arterial stiffness and cardiac hypertrophy. The results of our congenic analysis narrowed BP-f1 to chromosome 5 coordinates 134.9-141.5 Mbp setting up the basis for further fine mapping of BP-f1 and eventual identification of the specific gene variant accounting for BP-f1 effect on blood pressure.

Dahl (S x R) congenic strain analysis confirms and defines a chromosome 5 female-specific blood pressure quantitative trait locus to <7 Mbp.

Science.gov (United States)

Herrera, Victoria L M; Pasion, Khristine A; Moran, Ann Marie; Ruiz-Opazo, Nelson

2012-01-01

The detection of multiple sex-specific blood pressure (BP) quantitative trait loci (QTLs) in independent total genome analyses of F2 (Dahl S x R)-intercross male and female rat cohorts confirms clinical observations of sex-specific disease cause and response to treatment among hypertensive patients, and mandate the identification of sex-specific hypertension genes/mechanisms. We developed and studied two congenic strains, S.R5A and S.R5B introgressing Dahl R-chromosome 5 segments into Dahl S chromosome 5 region spanning putative BP-f1 and BP-f2 QTLs. Radiotelemetric non-stressed 24-hour BP analysis at four weeks post-high salt diet (8% NaCl) challenge, identified only S.R5B congenic rats with lower SBP (-26.5 mmHg, P = 0.002), DBP (-23.7 mmHg, P = 0.004) and MAP (-25.1 mmHg, P = 0.002) compared with Dahl S female controls at four months of age confirming BP-f1 but not BP-f2 QTL on rat chromosome 5. The S.R5B congenic segment did not affect pulse pressure and relative heart weight indicating that the gene underlying BP-f1 does not influence arterial stiffness and cardiac hypertrophy. The results of our congenic analysis narrowed BP-f1 to chromosome 5 coordinates 134.9-141.5 Mbp setting up the basis for further fine mapping of BP-f1 and eventual identification of the specific gene variant accounting for BP-f1 effect on blood pressure.

Compartmentalization of HIV-1 within the female genital tract is due to monotypic and low-diversity variants not distinct viral populations.

Science.gov (United States)

Bull, Marta; Learn, Gerald; Genowati, Indira; McKernan, Jennifer; Hitti, Jane; Lockhart, David; Tapia, Kenneth; Holte, Sarah; Dragavon, Joan; Coombs, Robert; Mullins, James; Frenkel, Lisa

2009-09-22

Compartmentalization of HIV-1 between the genital tract and blood was noted in half of 57 women included in 12 studies primarily using cell-free virus. To further understand differences between genital tract and blood viruses of women with chronic HIV-1 infection cell-free and cell-associated virus populations were sequenced from these tissues, reasoning that integrated viral DNA includes variants archived from earlier in infection, and provides a greater array of genotypes for comparisons. Multiple sequences from single-genome-amplification of HIV-1 RNA and DNA from the genital tract and blood of each woman were compared in a cross-sectional study. Maximum likelihood phylogenies were evaluated for evidence of compartmentalization using four statistical tests. Genital tract and blood HIV-1 appears compartmentalized in 7/13 women by >/=2 statistical analyses. These subjects' phylograms were characterized by low diversity genital-specific viral clades interspersed between clades containing both genital and blood sequences. Many of the genital-specific clades contained monotypic HIV-1 sequences. In 2/7 women, HIV-1 populations were significantly compartmentalized across all four statistical tests; both had low diversity genital tract-only clades. Collapsing monotypic variants into a single sequence diminished the prevalence and extent of compartmentalization. Viral sequences did not demonstrate tissue-specific signature amino acid residues, differential immune selection, or co-receptor usage. In women with chronic HIV-1 infection multiple identical sequences suggest proliferation of HIV-1-infected cells, and low diversity tissue-specific phylogenetic clades are consistent with bursts of viral replication. These monotypic and tissue-specific viruses provide statistical support for compartmentalization of HIV-1 between the female genital tract and blood. However, the intermingling of these clades with clades comprised of both genital and blood sequences and the absence

Female Factory Workers in Charlotte Elizabeth Tonna’s Quest

Directory of Open Access Journals (Sweden)

Fusco Carla

2016-12-01

Full Text Available Female workers represent a fundamental component of the workforce to the extent that it is true that the Industrial Revolution owes them a huge debt. However, despite the unfair exploitation of many women in factories in which conditions resembled manslaughter, they have been often neglected and reduced to liminal characters by Victorian novelists. An interesting exception in the early Victorian period is represented by the writer Charlotte Elizabeth Tonna, whose fiction works as a medium of social criticism. Her semi-fictional The Wrongs of Woman is a reform novel which sheds a controversial light on female working conditions. On the one hand she indeed deplores the inhuman treatment of female labourers, but on the other hand she also argues that female employment provokes a consequent increase in male unemployment! My paper aims to investigate the role of Tonna’s text and her attempt to alleviate working-class suffering.

Tyrosine receptor kinase B gene variants (NTRK2 variants) are associated with depressive disorders in temporal lobe epilepsy.

Science.gov (United States)

Torres, Carolina Machado; Siebert, Marina; Bock, Hugo; Mota, Suelen Mandelli; Castan, Juliana Unis; Scornavacca, Francisco; de Castro, Luiza Amaral; Saraiva-Pereira, Maria Luiza; Bianchin, Marino Muxfeldt

2017-06-01

Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE. An association study of 163 patients with TLE. The NTRK2 variants studied were rs1867283, rs10868235, rs1147198, rs11140800, rs1187286, rs2289656, rs1624327, rs1443445, rs3780645, and rs2378672. All patients were submitted to the Structured Clinical Interview for DSM-IV (SCID) and epilepsy patients with mood disorders or depressive disorders were compared to epilepsy patients without mood disorders or depressive disorders. In our TLE cohort, 76 patients (46.6%) showed mood disorders. After logistic regression, independent risk factors for mood disorders in TLE were female sex, presence of concomitant anxiety disorders, and genetic variations in rs1867283 and rs10868235 NTRK2 variants. Depressive disorders accounted for this results and independent variables associated with depressive disorders in TLE were female sex (OR=2.59; 95%CI=1.15-5.82; p=0.021), presence of concomitant anxiety disorders (OR=3.72; 95%CI=1.71-8.06; p=0.001) or psychotic disorders (OR=3.86; 95%CI=1.12-13.25; p=0.032), A/A genotype in the rs1867283 NTRK2 gene (OR=3.06; 95%CI=1.25-7.50; p=0.015) and C/C genotype in the rs10868235 NTRK2 gene (OR=3.54; 1.55-8.08; p=0.003). Similarly, these genotypes also remained independently and significantly associated with depressive disorders when patients with depressive disorders were compared to TLE patients without any psychiatric comorbidity. In the present study, female sex, presence of concomitant anxiety or psychotic disorders, and

Perforating pilomatrixoma showing atypical presentation: A rare clinical variant

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Nevra Seyhan

2018-03-01

Full Text Available Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor arising from hair follicle stem cells. The most common localization is the head and neck region. Female/male ratio is 3/2. It shows deep subcutaneous placement and occurs in the first two decades of life. Its diameter ranges from 0.5 cm to 3 cm. Multiple lesions are rarely seen. Histopathologically it is characterized by basoloid and ghost cells. Perforating type is a rare clinical variant. Treatment is surgical excision. Our case is presented to draw attention to a rare clinical variant of pilomatrixioma.

Research/Advocacy/Community: Reflections on Asian American trauma, heteropatriarchal betrayal, and trans/gender-variant health disparities research

Directory of Open Access Journals (Sweden)

S. J. Hwahng

2013-11-01

Full Text Available This article first examines the author’s positionality with reference to the historical and inter-generational transmission of Asian trauma, the contemporary plight of North Koreans, and the betrayal of anatomically-female individuals (including those who are sexual minority/gender-variant within Asian heteropatriarchal systems. An analysis of the relevance of empirical research on low-income trans/gender-variant people of color is then discussed, along with an examination of HIV and health disparities in relation to the socio-economic positioning of low-income trans/gender-variant people of color and sexual minority women, and how social contexts often gives rise to gender identity, including transmasculine identities. What next follows is an appeal to feminist and queer/trans studies to truly integrate those located on the lowest socio-economic echelons. The final section interrogates concepts of health, well-being, and happiness and how an incorporation of the most highly disenfranchised/marginalized communities and populations challenges us to consider more expansive visions of social transformation.

12 CFR 250.166 - Treatment of mandatory convertible debt and subordinated notes of state member banks and bank...

Science.gov (United States)

2010-01-01

..., (B) Hold payments on the securities in trust, (C) Preserve the rights and franchises of the company... to repay the principal from the proceeds of future equity issues. (d) Previously issued subordinated...

Subordinate Males Sire Offspring in Madagascar Fish-eagle (Haliaeetus Vociferoides) Polyandrous Breeding Groups

OpenAIRE

Tingay, Ruth E.; Culver, Melanie; Hallerman, Eric M.; Fraser, James D.; Watson, Richard T.

2002-01-01

The island endemic Madagascar Fish-Eagle (Haliaeetus vociferoides) is one of the most endangered birds of prey. Certain populations in west-central Madagascar sometimes exhibit a third, and sometimes a fourth, adult involved in breeding activities at a nest. We applied DNA fingerprinting to assess relatedness among 17 individuals at four nests. In all nests with young, a subordinate rather than the dominant male sired the offspring. Within-nest relatedness comparisons showed that some dominan...

MicroRNA Expression Profile in Bovine Granulosa Cells of Preovulatory Dominant and Subordinate Follicles during the Late Follicular Phase of the Estrous Cycle.

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Samuel Gebremedhn

Full Text Available In bovine, ovarian follicles grow in a wave-like fashion with commonly 2 or 3 follicular waves emerging per estrous cycle. The dominant follicle of the follicular wave which coincides with the LH-surge becomes ovulatory, leaving the subordinate follicles to undergo atresia. These physiological processes are controlled by timely and spatially expressed genes and gene products, which in turn are regulated by post-transcriptional regulators. MicroRNAs, a class of short non-coding RNA molecules, are one of the important posttranscriptional regulators of genes associated with various cellular processes. Here we investigated the expression pattern of miRNAs in granulosa cells of bovine preovulatory dominant and subordinate follicles during the late follicular phase of bovine estrous cycle using Illumina miRNA deep sequencing. In addition to 11 putative novel miRNAs, a total of 315 and 323 known miRNAs were detected in preovulatory dominant and subordinate follicles, respectively. Moreover, in comparison with the subordinate follicles, a total of 64 miRNAs were found to be differentially expressed in preovulatory dominant follicles, of which 34 miRNAs including the miR-132 and miR-183 clusters were significantly enriched, and 30 miRNAs including the miR-17-92 cluster, bta-miR-409a and bta-miR-378 were significantly down regulated in preovulatory dominant follicles. In-silico pathway analysis revealed that canonical pathways related to oncogenesis, cell adhesion, cell proliferation, apoptosis and metabolism were significantly enriched by the predicted target genes of differentially expressed miRNAs. Furthermore, Luciferase reporter assay analysis showed that one of the differentially regulated miRNAs, the miR-183 cluster miRNAs, were validated to target the 3'-UTR of FOXO1 gene. Moreover FOXO1 was highly enriched in granulosa cells of subordinate follicles in comparison with the preovulatory dominant follicles demonstrating reciprocal expression pattern

The Long Walk to Leadership: Are Women their Own Worst Enemies?

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Samson Mutsagondo

2015-12-01

Full Text Available This study traces subordinate women’s perceptions of the root causes of the rift and polarization between women in subordinate positions and women in super-ordinate positions and how this impacts female leadership emergence. Unlike many earlier studies on leadership, this investigation interrogates the feminine leadership crisis from the point of view of women in subordinate positions. Whilst using a case study research design, 50 female teachers from Gweru in Zimbabwe completed questionnaires while 10 officers from the Ministry of Women Affairs were interviewed. Descriptive statistics, mainly, frequencies and percentages were used to analyze data. The study reveals that women play a significant role in their own demise in leadership as they spent a lot of time and energy fighting each other. Most subordinate women expressed that they neither like nor support female leaders and prefer working under male leaders. This confirms the prevalence of the “Pull Her Down Syndrome”. The study serves to remind women that a divided house falls and therefore, it encourages women to support and help each other in leadership circles in the true spirit of feminism.

Significance of Lignin S/G Ratio in Biomass Recalcitrance of Populus trichocarpa Variants for Bioethanol Production

Energy Technology Data Exchange (ETDEWEB)

Yoo, Chang Geun [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Dumitrache, Alexandru [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Muchero, Wellington [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Natzke, Jace [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Akinosho, Hannah [Georgia Inst. of Technology, Atlanta, GA (United States); Li, Mi [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Sykes, Robert W. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Brown, Steven D. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Davison, Brian [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Tuskan, Gerald A. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Pu, Yunqiao [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Ragauskas, Arthur J. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Univ. of Tennessee, Knoxville, TN (United States)

2017-12-11

Lignin S/G ratio has been investigated as an important factor in biomass recalcitrance to bioethanol production. Because of the complexity and variety of biomass, recalcitrance was also reportedly influenced by several other factors, such as total lignin content, degree of cellulose polymerization, etc. In addition, the effect of S/G ratio on biomass conversion is not uniform across plant species. Herein, 11 Populus trichocarpa natural variants grown under the same conditions with similar total lignin content were selected to minimize the effects of other factors. The lignin S/G ratio of the selected P. trichocarpa natural variants showed negative correlations with p-hydroxybenzoate (PB) and β–5 linkage contents, while it had positive ones with β-O-4 linkage, lignin molecular weight, and ethanol production. In conclusion, this study showed the importance of lignin S/G ratio as an independent recalcitrance factor that may aid future energy crop engineering and biomass conversion strategies.

Significance of Lignin S/G Ratio in Biomass Recalcitrance of Populus trichocarpa Variants for Bioethanol Production

Energy Technology Data Exchange (ETDEWEB)

Yoo, Chang Geun [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Dumitrache, Alexandru [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Muchero, Wellington [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Natzke, Jace [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Akinosho, Hannah [School; Li, Mi [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Sykes, Robert W. [National Renewable Energy Laboratory, U.S. Department of Energy, 15013 Denver West Parkway, Golden, Colorado 80401, United States; Brown, Steven D. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Davison, Brian [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Tuskan, Gerald A. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; Pu, Yunqiao [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Ragauskas, Arthur J. [BioEnergy; amp, Center for BioEnergy Innovation, Biosciences; UT−ORNL; Department; amp, Center for Renewable

2017-12-27

Lignin S/G ratio has been investigated as an important factor in biomass recalcitrance to bioethanol production. Because of the complexity and variety of biomass, recalcitrance was also reportedly influenced by several other factors, such as total lignin content, degree of cellulose polymerization, etc. In addition, the effect of S/G ratio on biomass conversion is not uniform across plant species. Herein, 11 Populus trichocarpa natural variants grown under the same conditions with similar total lignin content were selected to minimize the effects of other factors. The lignin S/G ratio of the selected P. trichocarpa natural variants showed negative correlations with p-hydroxybenzoate (PB) and ..beta..-5 linkage contents, while it had positive ones with ..beta..-O-4 linkage, lignin molecular weight, and ethanol production. This study showed the importance of lignin S/G ratio as an independent recalcitrance factor that may aid future energy crop engineering and biomass conversion strategies.

Holoprosencephaly Variant

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2003-01-01

Full Text Available The clinical manifestations in 15 patients (6 boys and 9 girls with middle interhemispheric variant (MIH of holoprosencephaly (HPE were compared with classic subtypes (alobar, semilobar, and lobar of HPE in a multicenter study at Stanford University School of Medicine and Lucile Packard Children’s Hospital; Children’s Hospital of Philadelphia; University of California at San Francisco; Texas Scottish Rite Hospital, Dallas; and Kennedy Krieger Institute, Baltimore, MD.

Study on monitoring achievement of performance indicators in the subordinate local companies in Romania

Directory of Open Access Journals (Sweden)

Gheorghe Neamţiu

2011-12-01

Full Text Available This paper deals with the pursuit of economic indicators which are calculated in local subordinate companies. These indicators are imposed by the Board employee manager contract term. Accounting provides enough information to calculate them but we put the issue of prevention of the ability to stay within budget, projected revenues and expenses, before closing operations of an accounting period (month, quarter, semester, year.

All’s [Not] Well: Female Service and ‘Vendible’ Virginity in Shakespeare’s Problem Play

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Emily C. Gerstell

2015-03-01

Full Text Available The article examines the economics of female service in William Shakespeare’s All’s Well That Ends Well, paying particular attention to the role Helena plays as mistress to the Widow Capilet and Diana. Such a focus reveals that what lies at the heart of All’s Well is not only, as previous scholarship has suggested, a battle between the sexes but also an intense focus on class and money. By examining both the ties between women and the ties between men that Helena forges and strengthens, I demonstrate that issues of economics and self-interest govern not only male-female relationships but also those between women. In particular, such attention highlights the role that service – conceived of as both economic and sexual – plays in driving the action and the ‘problem’ of All’s Well.

Effects of subordinate feedback to the supervisor and participation in decision-making in the prediction of organizational support.

Science.gov (United States)

1992-03-01

The present study tested the hypothesis that participation in decision-making (PDM) and perceived effectiveness of subordinate feedback to the supervisor would contribute unique variance in the prediction of perceptions of organizational support. In ...

Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.

NARCIS (Netherlands)

Derikx, M.H.; Szmola, R.; Morsche, R.H.M. te; Sunderasan, S.; Chacko, A.; Drenth, J.P.H.

2009-01-01

BACKGROUND: Tropical calcific pancreatitis (TCP) is a relatively common form of chronic pancreatitis in parts of Asia and Africa. The SPINK1 variant p.N34S is strongly associated with TCP, but other genetic factors remain to be defined. Chymotrypsinogen C (CTRC) degrades trypsinogen and

Leadership behavior changes following a theory-based leadership development intervention: A longitudinal study of subordinates' and leaders' evaluations.

Science.gov (United States)

Larsson, Gerry; Sandahl, Christer; Söderhjelm, Teresa; Sjövold, Endre; Zander, Ann

2017-02-01

The aim was to evaluate effects of leadership courses based on the developmental leadership model at the leadership behavioral level. A longitudinal design was employed with assessments before, one and six months after the leadership courses. The sample consisted of 59 leaders who made self-ratings and were rated by at least three subordinates on each occasion. Leadership behaviors were measured with the Developmental Leadership Questionnaire (DLQ). A limited increase of favorable leadership behaviors and a significant reduction of unfavorable leadership behaviors were found, particularly according to the subordinates' ratings. A cluster analysis yielded three meaningful leader profiles and showed that this pattern was found in all three profiles, irrespective of how favorably they were rated before the onset of the intervention. © 2016 Scandinavian Psychological Associations and John Wiley & Sons Ltd.

Semantic prioritization of novel causative genomic variants

KAUST Repository

Boudellioua, Imene

2017-04-17

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

Semantic prioritization of novel causative genomic variants

KAUST Repository

Boudellioua, Imene; Mohamad Razali, Rozaimi; Kulmanov, Maxat; Hashish, Yasmeen; Bajic, Vladimir B.; Goncalves-Serra, Eva; Schoenmakers, Nadia; Gkoutos, Georgios V.; Schofield, Paul N.; Hoehndorf, Robert

2017-01-01

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

Relationship Intensity Communication Between Leaders and Subordinates and Employee Motivation Against Job Satisfaction

OpenAIRE

Prasetyo, Haryo; Yuliyanto, Much

2017-01-01

The problems that occur in Carnivor Skybar & Grill is the dissatisfaction of employees in the work indicated by the number of employees who resigned due to the condition. This study aims to analyze the relationship of communication intensity between the leadership and subordinates and employee motivation to job satisfaction Carnivor Skybar & Grill. This study is a type of study using a single instrumental case study with a sample of 57 employees Carnivor Skybar & Grill taken using...

The Identity of Female Cyborg in William Gibson’s Neuromancer

Directory of Open Access Journals (Sweden)

Geraldine Yap Chee Hui

2015-04-01

Full Text Available This study aims to examine the identity of female cyborg in William Gibson’s Neuromancer (1984 based on Donna Haraway’s A Cyborg Manifesto. In Neuromancer the main character, Molly Million does not fit in the stereotypical female characteristics. When a male is the protagonist, females will be seen as a feminine stereotype and being depicted as helpless and weak. She is in fact the reversal of feminine stereotype. Henry Dorsett Case, the male protagonist of the story, was given a job opportunity and being partnered up with Molly to fulfil their mission. When Molly and Case are together, Case is always on the safe side while Molly aggressively moves around getting her things done. Being a cyborg is to be fierce, fast and bold just like Molly and being a goddess will be a typical female. It is a metaphor used to conceptualize socialist feminism in the modern society. The boundary breakdown between organism and machine portrays the boundary breakdown between Molly and Wintermute, an Artificial Intelligence (AI, because Molly and Wintermute are representatives of organism and machine, respectively. When Molly and Wintermute could put up with each other, it indirectly shows the connection between human and technology that can then be brought to another level as dualism of mind and body that are considered as one in the cybernetic world just like how high technology and scientific culture are interrelated. Mind which symbolizes Artificial Intelligence is the ultimate power which controls the body. The technological enhancements in Molly are the symbolised power which gives her the difference in stereotypical female role. Keywords: Cyborg Feminism, Female Identity, Patriarchal Role, Cyberpunk

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

DEFF Research Database (Denmark)

Schönewolf-Greulich, Bitten; Tejada, Maria-Isabel; Stephens, K

2016-01-01

. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X......-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism...

Identification of low-frequency variants associated with gout and serum uric acid levels

DEFF Research Database (Denmark)

Sulem, Patrick; Gudbjartsson, Daniel F; Walters, G Bragi

2011-01-01

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15......,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed...... the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0...

Lack of association between the S447X variant of the lipoprotein lipase gene and plasma lipids: A preliminary study

OpenAIRE

Zambrano Morales, Mariana; Fernández Salgado, Erika; Balzán Urdaneta, Ligia; Labastidas, Neila; Aranguren-Méndez, José; Connell, Lissette; Molero Paredes, Tania; Rojas, Alicia; Panunzio, Amelia

2014-01-01

El aumento en los valores de los lípidos sanguíneos, constituye un importante factor de riesgo cardiovascular. La lipoproteína lipasa (LPL) juega un papel importante en el metabolismo lipoproteico. Factores metabólicos y genéticos pueden influir en la función de la LPL. La variante S447X de la LPL se ha asociado con cambios en el perfil lipídico en diferentes poblaciones. El objetivo de esta investigación fue analizar la relación entre la variante S447X del gen de la LPL y lípidos plasmáticos...

Historical U.S. Residential Coal Use and Female Lung Cancer Mortality

Energy Technology Data Exchange (ETDEWEB)

Cullen, Jennifer; Bogen, Kenneth T.

2001-03-01

Recent ecological and case-control studies have indicated elevated lung cancer mortality (LCM) associated with bituminous "smoky" coal use in China, but no similar study has been conducted using U.S. populations. Early 20th century U.S. home cooking and heating fuels were examined in relation to age-specific female LCM, focusing on county-level mortality during 1950-54 to reduce potential inter-county confounding due to cigarette smoking among women aged 40* vs. 60* years (among whom 11% vs. 5% ever smoked, respectively). Overall, a significant relationship was found between female LCM and county-level average per capita bituminous coal use with and without adjustment for numerous covariates in counties where ~75% of homes used coal for heating. This positive association was similar in each female age group after adjustment of 190 combinations of variates considered in addition t

The White Male as Narrative Axis in Mayra Santos-Febres’s Nuestra señora de la noche

Directory of Open Access Journals (Sweden)

Helene C. Weldt-Basson

2013-01-01

Full Text Available Mayra Santos-Febres’s 2006 novel, Nuestra señora de la noche , is based on the life of the Puerto Rican madam, Isabel la Negra, a legendary figure in Puerto Rican culture. Using both Mervin Alleyne’s theory of racial discrimination and Aída Hurtado’s theory of racially-based gender discrimination, which shows how the reactions of white and black females are governed by their relation of dependency on or rejection by the white male, this study illustrates how the character Isabel la Negra evolves as a postmodern, feminist character who opposes racism and gender subordination in Puerto Rico through her role as a prostitute. Conversely, the study also illustrates how madness, associated with both white (Cristina Rangel and black (Montse females in the novel, is a powerless rather than feminist strategy, into which women descend due to their mistreatment by patriarchal society. The study illustrates how Fernando Fornarís, the white male protagonist, serves as the narrative axis for the development of women’s polarized reactions to patriarchal domination in the novel.

The Paradox of Power Sharing: Participative Charismatic Leaders have Subordinates with more instead of less Need for Leadership

NARCIS (Netherlands)

de Vries, R.E.; Pathak, R.D.; Paquin, A.R.

2011-01-01

Although charismatic and participative leaders have been noted for their positive effects on criteria such as performance, job satisfaction, and commitment, few studies have looked at the relations with subordinates' leadership needs. In this study, the relations between charismatic and

Oral fibrolipoma: A rare histological variant

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Treville Pereira

2014-01-01

Full Text Available Lipomas are benign soft tissue mesenchymal neoplasms. Fibrolipoma is a histological variant of lipoma that mostly affects the buccal mucosa and causes functional and cosmetic disabilities. The diagnosis and differentiation of fibrolipoma with clinically similar lesions such as fibroma and pleomorphic adenoma is very essential for a correct treatment plan and complete follow-up. This article presents a case of a 35-year-old female with a fibrolipoma on the lingual marginal gingiva of the mandibular left third molar.

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Science.gov (United States)

Gurbuz, F; Desai, S; Diao, F; Turkkahraman, D; Wranitz, F; Wood-Trageser, M; Shin, Y-H; Kotan, L D; Jiang, H; Witchel, S; Gurtunca, N; Yatsenko, S; Mysliwec, D; Topaloglu, K; Rajkovic, A

2018-04-01

Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations.

Science.gov (United States)

Dubé, Joseph B; Wang, Jian; Cao, Henian; McIntyre, Adam D; Johansen, Christopher T; Hopkins, Scarlett E; Stringer, Randa; Hosseinzadeh, Siyavash; Kennedy, Brooke A; Ban, Matthew R; Young, T Kue; Connelly, Philip W; Dewailly, Eric; Bjerregaard, Peter; Boyer, Bert B; Hegele, Robert A

2015-02-01

Inuit are considered to be vulnerable to cardiovascular disease because their lifestyles are becoming more Westernized. During sequence analysis of Inuit individuals at extremes of lipid traits, we identified 2 nonsynonymous variants in low-density lipoprotein receptor (LDLR), namely p.G116S and p.R730W. Genotyping these variants in 3324 Inuit from Alaska, Canada, and Greenland showed they were common, with allele frequencies 10% to 15%. Only p.G116S was associated with dyslipidemia: the increase in LDL cholesterol was 0.54 mmol/L (20.9 mg/dL) per allele (P=5.6×10(-49)), which was >3× larger than the largest effect sizes seen with other common variants in other populations. Carriers of p.G116S had a 3.02-fold increased risk of hypercholesterolemia (95% confidence interval, 2.34-3.90; P=1.7×10(-17)), but did not have classical familial hypercholesterolemia. In vitro, p.G116S showed 60% reduced ligand-binding activity compared with wild-type receptor. In contrast, p.R730W was associated with neither LDL cholesterol level nor altered in vitro activity. LDLR p.G116S is thus unique: a common dysfunctional variant in Inuit whose large effect on LDL cholesterol may have public health implications. © 2014 American Heart Association, Inc.

Interpretation of the Revealed Word by the Tradition of the Church – the Issue of Subordination of Woman to Man in the Saint Paul’s Letter to the Ephesians (Eph 5 : 21–33

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Stanislav Vojtko

2015-09-01

• to the ingenious doctrine of St. Pope John Paul II. in his theology of the body: the relationship between man and woman in marriage is a relationship of mutual subordination in love, reflecting God’s love and symbolizing the relation between Christ and the Church. This relationship is inherently “communio personarum” (communion of persons in which the dissimilarity of women and men is mutually complemented and creates harmony. In this article we wanted to highlight the fact that a return to the inspired biblical texts explained by the Magisterium is a reliable means of obtaining true knowledge even of the thorny issue of conjugal and family life.

Defeating abusive supervision: Training supervisors to support subordinates.

Science.gov (United States)

Gonzalez-Morales, M Gloria; Kernan, Mary C; Becker, Thomas E; Eisenberger, Robert

2018-04-01

Although much is known about the antecedents and consequences of abusive supervision, scant attention has been paid to investigating procedures to reduce its frequency. We conducted a quasiexperiment to examine the effects of supervisor support training on subordinate perceptions of abusive supervision and supervisor support. Supervisors (n = 23) in 4 restaurants were trained in 4 supportive supervision strategies (benevolence, sincerity, fairness, and experiential processing) during 4 2-hr sessions over a period of 2 months. We compared perceived supervisor support and abusive supervision before and 9 months after training for 208 employees whose supervisors received support training and 241 employees in 4 similar control restaurants. Compared to employees in the control restaurants, employees whose supervisors received the support training reported higher levels of perceived supervisor support and less abusive supervision. These findings suggest that a relatively brief training program can help managers become more supportive and less abusive. Theoretical and practical implications for effectively managing abusive supervision are discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Female genital mutilation - from tradition to femicide

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Rakić Jelena

2017-01-01

of keeping a woman in subordinate position through repression of her sexuality and taking over the control of women’s bodies, which reflects gender inequality. Therefore, every case of female genital mutilation which results in death cannot be regarded as a part of a tradition and cultural heritage, but as one of the forms of femicide.

The correlation between subordinate fish eye colour and received attacks: a negative social feedback mechanism for the reduction of aggression during the formation of dominance hierarchies.

Science.gov (United States)

Miyai, Caio A; Carretero Sanches, Fábio H; Costa, Tânia M; Colpo, Karine Delevati; Volpato, Gilson L; Barreto, Rodrigo E

2011-12-01

Eye darkening has been linked to social status in fish. The subordinate's eyes darken, while the eyes of the dominant fish become pale. Although this phenomenon has been described in salmonid fishes and in the African cichlid Nile tilapia Oreochromis niloticus, it is unclear whether eye darkening correlates with a reduction in aggressive behaviour. Thus, we evaluated the link between social status and eye darkening. We evaluated whether the eye colours of subordinate fish correlate with the frequency of received attacks in a neotropical fish, the pearl cichlid Geophagus brasiliensis. We paired pearl cichlids and quantified both the aggressive behaviour and the eye darkening of each fish. As has been described for Nile tilapia and Atlantic salmon, a clear-cut hierarchical relationship formed, where dominance and subordination were associated with pale and dark eye colours, respectively. Initially, eye colour darkening was positively correlated with the frequency of received attacks; however, a negative association occurred following eye darkening, in which the intensity of aggressive interactions decreased. Thus, fish that initially received a high number of attacks signalled subordination more rapidly and intensely (rapid and dramatic eye darkening), thereby inducing a negative social feedback mechanism that led to reduced aggression. Copyright © 2011 Elsevier GmbH. All rights reserved.

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition

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Amit Kumar Yadav

2010-09-01

Full Text Available HbQ-India is a rare alpha chain variant that usually presents in the heterozygous state. Normally, HbQ-India is clinically silent. It becomes symptomatic when present in association with other conditions. We report a case of HbQ-India with concomitant presence of iron deficiency anemia. A 16-year-old female presented with weakness and pallor intermittently for six years. Complete blood count showed severe microcytic hypochromic anemia. Hemoglobin electrophoresis showed a prominent band in the S,D,G region. Tests for sickling were negative. High performance liquid chromatography (HPLC showed a peak in the unknown window (4.70-4.90 min suggestive of HbQ-India. Serum iron profile was suggestive of iron deficiency anemia. Based on the above findings, a diagnosis of coexistent HbQ-India–iron deficiency anemia was made. A family study revealed the father as having moderate anemia with similar findings while the mother was normal. Abnormal hemoglobin in the patient was confirmed by molecular diagnosis.HbQ variants are the alpha globin chain variants due to structural mutations (α64 Asp→His inherited in autosomal dominant fashion. Three molecular variant types have been documented, namely HbQ-India, HbQ-Thailand and HbQ-Iran. Normally, HbQ is clinically silent. Therefore, careful screening of the samples using routine techniques like Hb electrophoresis and HPLC are needed for identification of such abnormal hemoglobin variants like HbQ-India.

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

Science.gov (United States)

Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon

2016-04-07

Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

Identificação de variantes de hemoglobina em doadores de sangue Identification of hemoglobin variants in blood donor

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Ana C. Bonini-Domingos

2004-03-01

Full Text Available Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different regions. The phenotype may be influenced by environmental and genetic factors and by migration. An understanding of these genetic diseases is important for the health and quality of life of the population. In this work we assessed the presence of Hb variants in blood donors from São José do Rio Preto and region, and we observed the occurrence of variants including Hb S and Hb C but in particular the so-called "S-Like" variants. Good determination of the forms of variant hemoglobins is very important to give better guidance to blood donors and their families, and to improve the quality of blood transfusion.

Takayasu’s Arteritis and Crohn’s Disease in a Young Hispanic Female

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Namrata Singh

2014-01-01

Full Text Available Takayasu’s arteritis (TA and Crohn’s disease (CD are chronic inflammatory granulomatous disorders of undetermined etiology. TA is a large vessel vasculitis with a predilection for the aorta and its branches in young women of Asian descent; whereas CD has characteristic gastrointestinal manifestations more prevalent in young Caucasians. We describe a case of both diseases in a young Hispanic female, review the literature, and impart new insight on possible genetic linkage and the role of interleukin 12 B (IL-12B as the common autoimmune mechanism and potential therapeutic target in this rare disease combination.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

Science.gov (United States)

Liu, Yong; Cao, Yu; Li, Yaxiong; Lei, Dongyun; Li, Lin; Hou, Zong Liu; Han, Shen; Meng, Mingyao; Shi, Jianlin; Zhang, Yayong; Wang, Yi; Niu, Zhaoyi; Xie, Yanhua; Xiao, Benshan; Wang, Yuanfei; Li, Xiao; Yang, Lirong; Wang, Wenju; Jiang, Lihong

2018-03-05

BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with secundum ASD were recruited, and their tissue samples were analyzed by WES, followed by verification by Sanger sequencing of tissue and blood samples. Further evaluation using blood samples included 452 additional patients with sporadic secundum ASD (212 male and 240 female patients) and 519 healthy subjects (252 male and 267 female subjects) for further verification by a multiplexed MassARRAY system. Bioinformatic analyses were performed to identify novel genetic variants associated with sporadic ASD. RESULTS From five patients with sporadic ASD, a total of 181,762 genomic variants in 33 exon loci, validated by Sanger sequencing, were selected and underwent MassARRAY analysis in 452 patients with ASD and 519 healthy subjects. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic ASD (PASD (PASD, and supported the use of WES and bioinformatics analysis to identify disease-associated mutations.

Circulating Levels of sFlt1 Splice Variants as Predictive Markers for the Development of Preeclampsia

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Colby A. Souders

2015-06-01

Full Text Available Angiogenic biomarkers, including soluble fms-like tyrosine kinase 1 (sFlt1, are thought to be predictors of preeclampsia onset; however, improvement is needed before a widespread diagnostic test can be utilized. Here we describe the development and use of diagnostic monoclonal antibodies specific to the two main splice variants of sFlt1, sFlt1-1 and sFlt1-14. These antibodies were selected for their sensitivity and specificity to their respective sFlt1 isoform in a capture ELISA format. Data from this pilot study suggest that sFlt1-1 may be more predictive of preeclampsia than total sFlt1. It may be possible to improve current diagnostic platforms if more specific antibodies are utilized.

Forum: Interpersonal Communication in Instructional Settings. The Instructor-Student Relationship as an Alternative Form of Superior-Subordinate Relationship

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Myers, Scott A.

2017-01-01

In this brief forum article, the author suggests studying the instructor-student relationship as a superior-subordinate relationship offers an alternative way to view how student learning occurs in the college classroom, and can provide instructional communication researchers with the opportunity to explore how structural and institutional…

Perceiving social inequity: when subordinate-group positioning on one dimension of social hierarchy enhances privilege recognition on another.

Science.gov (United States)

Rosette, Ashleigh Shelby; Tost, Leigh Plunkett

2013-08-01

Researchers have suggested that viewing social inequity as dominant-group privilege (rather than subordinate-group disadvantage) enhances dominant-group members' support for social policies aimed at lessening such inequity. However, because viewing inequity as dominant-group privilege can be damaging to dominant-group members' self-images, this perspective is frequently resisted. In the research reported here, we explored the circumstances that enhance the likelihood of dominant-group members' viewing inequity as privilege. Because social hierarchies have multiple vertical dimensions, individuals may have high status on one dimension but low status on another. We predicted that occupying a subordinate position on one dimension of social hierarchy could enhance perceptions of one's own privilege on a different dimension of hierarchy, but that this tendency would be diminished among individuals who felt they had achieved a particularly high level of success. Results from three studies that considered gender-based and race-based hierarchies in organizational settings supported our hypothesis.

Invasive lobular carcinoma with extracellular mucin as a distinct variant of lobular carcinoma: a case report

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Haltas Hacer

2012-08-01

Full Text Available Abstract The differences between invasive lobular and ductal carcinomas affect the diagnostic and therapeutic management for patients with breast cancer. In most cases, this can be accomplished because of distinct histomorphologic features. However, occasionally, this task may become quite difficult, in particular when dealing with the variants of infiltrating lobular carcinoma. Lobular carcinoma has been considered a variant of mucin-secreting carcinoma with only intracytoplasmic mucin. The presence of extracellular mucin is a feature of ductal carcinoma. Herein is presented a case of lobular carcinoma with extracellular and intracellular mucin in a 43-year-old female patient, and confirmed by immunohistochemistry. Up to the present, infiltrating lobular carcinoma displaying extracellular mucin has not been described in the literature except two case. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1839906067716744

Leadership behavior in relation to dominance and reproductive status in gray wolves, Canis lupus

Science.gov (United States)

Peterson, R.O.; Jacobs, A.K.; Drummer, T.D.; Mech, L.D.; Smith, D.W.

2002-01-01

We analyzed the leadership behavior of breeding and nonbreeding gray wolves (Canis lupus) in three packs during winter in 1997-1999. Scent-marking, frontal leadership (time and frequency in the lead while traveling), initiation of activity, and nonfrontal leadership were recorded during 499 h of ground-based observations in Yellowstone National Park. All observed scent-marking (N = 158) was done by breeding wolves, primarily dominant individuals. Dominant breeding pairs provided most leadership, consistent with a trend in social mammals for leadership to correlate with dominance. Dominant breeding wolves led traveling packs during 64% of recorded behavior bouts (N = 591) and 71% of observed travel time (N = 64 h). During travel, breeding males and females led packs approximately equally, which probably reflects high parental investment by both breeding male and female wolves. Newly initiated behaviors (N = 104) were prompted almost 3 times more often by dominant breeders (70%) than by nonbreeders (25%). Dominant breeding females initiated pack activities almost 4 times more often than subordinate breeding females (30 vs. 8 times). Although one subordinate breeding female led more often than individual nonbreeders in one pack in one season, more commonly this was not the case. In 12 cases breeding wolves exhibited nonfrontal leadership. Among subordinate wolves, leadership behavior was observed in subordinate breeding females and other individuals just prior to their dispersal from natal packs. Subordinate wolves were more often found leading packs that were large and contained many subordinate adults.

Cosmogynesis: The female hero in Tanith Lee’s The winter players

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Eileen Donaldson

2017-11-01

Full Text Available The mass appearance of female heroes in popular culture in recent decades may encourage the opinion that the female hero has achieved the same credibility as her male counterpart. This article demonstrates, however, that she continues to generate ambivalence and that the primary reservation of most scholars is that a female hero either cannot or should not perform the masculinity of the archetype. Scholarly arguments tend towards two positions: that a female hero is an oxymoron; or that she should be limited to battles on behalf of women in which she champions feminine characteristics and challenges the belief that femininity is not heroic. Neither of these positions take archetypal heroism into account. Advocating a return to Jungian archetypal theory, I argue that the masculinity of the archetype may be as successfully performed by a female hero as by a male hero. Once this premise is accepted, the female hero should be expected to undergo the same trials and perform the same function as a male hero, in short, she should navigate the heroic monomyth outlined by Joseph Campbell. I illustrate this point through a literary analysis of Tanith Lee’s 1976 fantasy novella The winter players.

Modeling anomalous diffusion by a subordinated fractional Lévy-stable process

International Nuclear Information System (INIS)

Teuerle, Marek; Wyłomańska, Agnieszka; Sikora, Grzegorz

2013-01-01

Two phenomena that can be discovered in systems with anomalous diffusion are long-range dependence and trapping events. The first effect concerns events that are arbitrarily distant but still influence each other exceptionally strongly, which is characteristic for anomalous regimes. The second corresponds to the presence of constant values of the underlying process. Motivated by the relatively poor class of models that can cover these two phenomena, we introduce subordinated fractional Lévy-stable motion with tempered stable waiting times. We present in detail its main properties, propose a simulation scheme and give an estimation procedure for its parameters. The last part of the paper is a presentation, via the Monte Carlo approach, of the effectiveness of the estimation of the parameters. (paper)

S447X variant of the lipoprotein lipase gene, lipids, and risk of coronary heart disease in 3 prospective cohort studies

DEFF Research Database (Denmark)

Jensen, M.K.; Rimm, E.B.; Rader, D.

2009-01-01

; the association was weaker in the HPFS and not statistically significant in the DCH women and men. The pooled relative risk per minor allele was 0.74 (0.56-1.00). There was a suggestion that the associations of the S447X variant with plasma lipids and CHD risk were more pronounced in obese individuals in the NHS...... study, but this finding was not consistent across the studies. Conclusions The LPL S447X variant tended to be associated with lower TG and higher HDL-C levels, and lower risk of CHD in all 3 cohorts. Lipoprotein lipase is an attractive target for clinical intervention, but studies are needed to clarify...

Accurate genotyping across variant classes and lengths using variant graphs

DEFF Research Database (Denmark)

Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

2018-01-01

of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

Zygote arrest 1 gene in pig, cattle and human: evidence of different transcript variants in male and female germ cells

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Royere Dominique

2006-03-01

development highlighted by expression pattern of full-length transcript in oocytes and early embryos, ZAR1 could also be implicated in the regulation of meiosis and post meiotic differentiation of male and female germ cells through expression of shorter splicing variants. Species conservation of ZAR1 expression and regulation underlines the central role of this gene in early reproductive processes.

Zygote arrest 1 gene in pig, cattle and human: evidence of different transcript variants in male and female germ cells

Science.gov (United States)

Uzbekova, Svetlana; Roy-Sabau, Monica; Dalbiès-Tran, Rozenn; Perreau, Christine; Papillier, Pascal; Mompart, Florence; Thelie, Aurore; Pennetier, Sophie; Cognie, Juliette; Cadoret, Veronique; Royere, Dominique; Monget, Philippe; Mermillod, Pascal

2006-01-01

expression pattern of full-length transcript in oocytes and early embryos, ZAR1 could also be implicated in the regulation of meiosis and post meiotic differentiation of male and female germ cells through expression of shorter splicing variants. Species conservation of ZAR1 expression and regulation underlines the central role of this gene in early reproductive processes. PMID:16551357

Cervical Cancer Incidence in Young U.S. Females After Human Papillomavirus Vaccine Introduction.

Science.gov (United States)

Guo, Fangjian; Cofie, Leslie E; Berenson, Abbey B

2018-05-30

Since 2006, human papillomavirus vaccine has been recommended for young females in the U.S. This study aimed to compare cervical cancer incidence among young women before and after the human papillomavirus vaccine was introduced. This cross-sectional study used data from the National Program for Cancer Registries and Surveillance, Epidemiology, and End Results Incidence-U.S. Cancer Statistics 2001-2014 database for U.S. females aged 15-34 years. This study compared the 4-year average annual incidence of invasive cervical cancer in the 4 years before human papillomavirus vaccine was introduced (2003-2006) and the 4 most recent years in the vaccine era (2011-2014). Joinpoint regression models of cervical incidence from 2001 to 2014 were fitted to identify the discrete joints (year) that represent statistically significant changes in the direction of the trend after the introduction of human papillomavirus vaccination in 2006. Data were collected in 2001-2014, released, and analyzed in 2017. The 4-year average annual incidence rates for cervical cancer in 2011-2014 were 29% lower than that in 2003-2006 (6.0 vs 8.4 per 1,000,000 people, rate ratio=0.71, 95% CI=0.64, 0.80) among females aged 15-24 years, and 13.0% lower among females aged 25-34 years. Joinpoint analyses of cervical cancer incidence among females aged 15-24 years revealed a significant joint at 2009 for both squamous cell carcinoma and non-squamous cell carcinoma. Among females aged 25-34 years, there was no significant decrease in cervical cancer incidence after 2006. A significant decrease in the incidence of cervical cancer among young females after the introduction of human papillomavirus vaccine may indicate early effects of human papillomavirus vaccination. Copyright © 2018 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

[Molecular analyses of human influenza viruses. Circulation of new variants since 1995/96].

Science.gov (United States)

Biere, B; Schweiger, B

2008-09-01

The evolution of influenza viruses is increasingly pursued by molecular analyses that complement classical methods. The analyses focus on the two surface proteins hemagglutinin (HA) and neuraminidase (NA) which determine the viral antigenic profile. Influenza A(H3N2) viruses are exceptionally variable, so that usually at least two virus variants cocirculate at the same time. Together with influenza B viruses they caused approximately 90% of influenza virus infections in Germany during the last 12 seasons, while influenza A(H1N1) viruses only played a subordinate part. Unexpectedly, reassorted viruses of subtype A(H1N2) appeared during the seasons 2001/02 and 2002/03, but were isolated only rarely and gained no epidemiological significance. Furthermore, during the season 2001/02 influenza B viruses of the Victoria-lineage reappeared in Germany and other countries of the northern hemisphere after 10 years of absence. These viruses reassorted with the cocirculating Yamagata-like influenza B viruses, as could be seen by the appearance of viruses with a Victoria-like HA and a Yamagata-like NA.

Eagle′s syndrome: A rare case of young female

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Mohammad Abdul Baseer

2013-01-01

Full Text Available Eagle′s syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle′s syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle′s syndrome.

Diet matters: Glucocorticoid-related neuroadaptations associated with calorie intake in female rhesus monkeys.

Science.gov (United States)

Godfrey, Jodi R; Diaz, Maylen Perez; Pincus, Melanie; Kovacs-Balint, Zsofia; Feczko, Eric; Earl, Eric; Miranda-Dominguez, Oscar; Fair, Damien; Sanchez, Mar M; Wilson, Mark E; Michopoulos, Vasiliki

2018-05-01

Exposure to psychosocial stressors increases consumption of palatable, calorically dense diets (CDD) and the risk for obesity, especially in females. While consumption of an obesogenic diet and chronic stress have both been shown to decrease dopamine 2 receptor (D2R) binding and alter functional connectivity (FC) within the prefrontal cortex (PFC) and the nucleus accumbens (NAcc), it remains uncertain how social experience and dietary environment interact to affect reward pathways critical for the regulation of motivated behavior. Using positron emission tomography (PET) and resting state functional connectivity magnetic resonance neuroimaging (rs-fMRI), in female rhesus monkeys maintained in a low calorie chow (n = 18) or a dietary choice condition (chow and a CDD; n = 16) for 12 months, the current study tested the overarching hypothesis that the adverse social experience resulting from subordinate social status would interact with consumption of an obesogenic diet to increase caloric intake that would be predicted by greater cortisol, lower prefrontal D2R binding potential (D2R-BP) and lower PFC-NAcc FC. Results showed that the consequences of adverse social experience imposed by chronic social subordination vary significantly depending on the dietary environment and are associated with alterations in prefrontal D2R-BP and FC in NAcc-PFC sub-regions that predict differences in caloric intake, body weight gain, and fat accumulation. Higher levels of cortisol in the chow-only condition were associated with mild inappetence, as well as increased orbitofrontal (OFC) D2R-BP and greater FC between the NAcc and the dorsolateral PFC (dlPFC) and ventromedial PFC (vmPFC). However, increased cortisol release in females in the dietary choice condition was associated with reduced prefrontal D2R-BP, and opposite FC between the NAcc and the vmPFC and dlPFC observed in the chow-only females. Importantly, the degree of these glucocorticoid-related neuroadaptations

Management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy.

Science.gov (United States)

Trojan, Meghan K Borden; Biederman, Robert W

2017-07-01

Healthcare professionals are faced with challenging decisions regarding patient evaluation and management on a daily basis. Once a diagnosis is made, additional challenges include how to proceed with the management. Here, we present an eighty-two-year-old female who was incidentally diagnosed with the apical variant of hypertrophic cardiomyopathy on a transthoracic echocardiogram. She was found to have newly diagnosed atrial fibrillation, but was otherwise asymptomatic from a cardiomyopathy standpoint. No specific guidelines exist for this patient population. Therefore, how does one proceed with the management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy? © 2017, Wiley Periodicals, Inc.

Identifying genetic variants that affect viability in large cohorts.

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Hakhamanesh Mostafavi

2017-09-01

Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

De la recherche salariée en France : lien de subordination et liberté de la recherche

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Constance Perrin-Joly

2010-12-01

Full Text Available Au travers de l’expérience d’une thèse de sociologie menée en entreprise (sous convention industrielle de formation par la recherche, nous chercherons en quoi le lien de subordination attaché au salariat et la dépendance économique associée nuisent à la liberté de la recherche, le sociologue ne pouvant s’appuyer sur les ressources d’une profession constituée ou s’intégrer dans une organisation logocratique. Le chercheur, pris entre des injonctions dissonantes risque de favoriser son intérêt personnel à court terme de salarié, parfois au détriment de celui attaché à sa position de sociologue, pour rendre la situation tenable. Les liens qui se créent avec la mise en place de relations de travail approfondies et du fait de l’intégration dans des logiques de pouvoir internes gênent également la distance affective nécessaire à la co-construction des résultats.About salary research in France: subordination link and freedom researchBased on a PhD done within a company (with special French contract named CIFRE, this article deals with how subordination link in salary and economic dependency harm research’s freedom. In fact, sociologist can neither draw on a system of profession resources, nor be integrated into a “logocratic firm”. The researcher which undergoes paradoxical injunctions risks promoting his own short-term salary interest to the detriment of scientific interest, in order to make the situation bearable. Furthermore, the affective distance necessary to achieve results - with people concerned by the request (“co-construction”, is affected by close working relationships and socially-influenced relationships.De la investigación asalariada en Francia: vínculo de subordinación entre libertad e investigaciónMediante  la experiencia de una tesis sociológica llevada a cabo en una empresa (bajo convención industrial de formación por investigación, buscaremos la forma en la que el vínculo de

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

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Mengmeng Du

Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

Filming Critical Female Perspectives: Edward Yang’s The Terrorizers

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Kai-man Chang

2017-04-01

Full Text Available From his first film—a twenty-minute short, “Expectations” (1982—to his last—a three-hour masterpiece, 'Yi Yi' (2000—Edward Yang, one of the leading figures of the Taiwan New Cinema movement, devoted his career to portraying the impact of neoliberal capitalism on the lives of the citizens of Taipei. Interestingly, Yang’s films often employ female perspectives to criticize Taiwan’s education system and transnational corporations for perpetuating neoliberal capitalism’s ideology of self-fulfillment and upward mobility. This paper draws upon feminist film theory to investigate the ways in which Yang’s third feature, 'The Terrorizers' (1986, utilizes various innovative cinematic languages to engender a multitude of women’s perspectives to expose male voyeurism and ultimately criticize the impact of neoliberal capitalism in Taipei.

Cellulase variants

Science.gov (United States)

Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

2015-07-14

This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature.

Science.gov (United States)

Lorenzo, Melissa; Stolte-Dijkstra, Irene; van Rheenen, Patrick; Smith, Ronald Garth; Scheers, Tom; Walia, Jagdeep S

2018-04-25

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit time, difficulty regulating temperature, several musculoskeletal issues, and a history of one grand mal seizure. Patient 2, 10-years-old, has mild dysmorphic features, therapy resistant vomiting with diminished motility of the stomach, mild constipation, cortical visual impairment with intermittent strabismus, axial hypotonia, difficulty regulating temperature, and cutaneous mastocytosis. Genetic testing identified KIAA2022 variant c.652C > T(p.Arg218*) in Patient 1, and a novel nonsense de novo variant c.2707G > T(p.Glu903*) in Patient 2. We also summarized features of all reported males with KIAA2022 variants to date. This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together. © 2018 Wiley Periodicals, Inc.

How to get radical creative ideas into a leader's mind? Leader's achievement goals and subordinates' voice of creative ideas

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Sijbom, Roy B.L.; Janssen, Onne; Van Yperen, Nico W.

2015-01-01

In the present research we investigated when and why leaders tend to oppose or adopt radical creative ideas voiced by their subordinates. In a field study (Study 1, N=127) we showed that leaders' performance goals were positively related to their tendency to oppose radical creative ideas, whereas

Investigation on the Relationship owth of Agricultural Sector’s Growth with Growth of Industrial and Service Sectors (Commerce, Transportation, Telecommunication in Iran

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yaghoob zeraatkish

2014-03-01

Full Text Available Agriculture has always been considerd as one of the important sectors in domestic and international economy .Based on the Central Bank Statistics; agriculture’s share in the Iranian GDP at the constant price of the year 1998 was 13 percent of the GDP in the year 2007. Therefore, studies on the role of agriculture in an economy and its interactions with other economic sectors should be considered with a special attention. This paper aimed at surveying the effects of growth of value-added in agriculture on the value-added of different sectors of industry, services as well as subordinate sectors of transportation, communication and commerce. In this regard, the status of the period between 1967 to 2009 is used. To determine the relationship among the study variables, some econometric techniques such as VAR were used. The results of VAR technique proves that there is a positive relation among the growth of value-added in the agricultural sector with the growth of industrial sector and the growth of sub-sectors of communication, transportation and commerce. Among the mentioned sectors and sub-sectors, the growth of commerce has maximum effect on the agricultural growth. Furthermore, in the short term, the growth variant of trading sector presented the largest share in explaining the variants of the agriculture sector . The growth variant of communication sector is trivial

Genetic Variants in SNCA and the Risk of Sporadic Parkinson’s Disease and Clinical Outcomes: A Review

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Clarissa Loureiro das Chagas Campêlo

2017-01-01

Full Text Available There is increasing evidence of the contribution of genetic susceptibility to the etiology of Parkinson’s disease (PD. Genetic variations in the SNCA gene are well established by linkage and genome-wide association studies. Positive associations of single nucleotide polymorphisms (SNPs in SNCA and increased risk for PD were found. However, the role of SNCA variants in individual traits or phenotypes of PD is unknown. Here, we reviewed the current literature and identified 57 studies, performed in fourteen different countries, that investigated SNCA variants and susceptibility to PD. We discussed the findings based on environmental factors, history of PD, clinical outcomes, and ethnicity. In conclusion, SNPs within the SNCA gene can modify the susceptibility to PD, leading to increased or decreased risk. The risk associations of some SNPs varied among samples. Of notice, no studies in South American or African populations were found. There is little information about the effects of these variants on particular clinical aspects of PD, such as motor and nonmotor symptoms. Similarly, evidence of possible interactions between SNCA SNPs and environmental factors or disease progression is scarce. There is a need to expand the clinical applicability of these data as well as to investigate the role of SNCA SNPs in populations with different ethnic backgrounds.

Reversed sex change by widowed males in polygynous and protogynous fishes: female removal experiments in the field

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Kuwamura, Tetsuo; Suzuki, Shohei; Kadota, Tatsuru

2011-12-01

Sex change, either protogyny (female to male) or protandry (male to female), is well known among fishes, but evidence of bidirectional sex change or reversed sex change in natural populations is still very limited. This is the first report on female removal experiments for polygnous and protogynous fish species to induce reversed sex change in the widowed males in the field. We removed all of the females and juveniles from the territories of dominant males in the cleaner wrasse Labroides dimidiatus (Labridae) and the rusty angelfish Centropyge ferrugata (Pomacanthidae) on the coral reefs of Okinawa. In both species, if new females or juveniles did not immigrate into the territories of the widowed males, some of them emigrated to form male-male pairs. When a male-male pair formed, the smaller, subordinate partner began to perform female sexual behaviours ( n = 4 in L. dimidiatus; n = 2 in C. ferrugata) and, finally, released eggs ( n = 1, respectively). Thus, the reversed sex change occurred in the widowed males according to the change of their social status. These results suggest that such female removal experiments will contribute to the discovery of reversed sex change in the field also in other polygnous and protogynous species.

The characteristics of transferrin variants by carbohydrate-deficient transferrin tests using capillary zone electrophoresis.

Science.gov (United States)

Yoo, Gilsung; Kim, Juwon; Yoon, Kap Joon; Lee, Jong-Han

2018-04-17

Transferrin is the major plasma transport protein for iron. We aimed to investigate the characteristics of transferrin variant by carbohydrate-deficient transferrin (CDT) test using capillary zone electrophoresis. We retrospectively analyzed the CDT tests of 2449 patients from March 2009 to May 2017 at a tertiary hospital in Korea. CDT was quantified using a Capillarys 2 system (Sebia, Lisses, France) by capillary zone electrophoresis. The characteristics of variant transferrin patterns using electropherogram of CDT tests were analyzed. Seventy-seven (3.1%) patients were classified as variant transferrin. Mean age of these patients was 51.8 years, and the male-to-female ratio was 3.5:1. The most common variants were the BC variants (n = 37), followed by the CD variants (n = 27), unclear patterns (n = 7), BD variants (n = 3), CC variants (n = 2), misclassification (n = 1). In the variant Tf group, the most common disease was alcoholic liver cirrhosis (n = 22, 28.6%), followed by the toxic effects of substances (n = 17, 22.1%), and mental and behavioral disorders attributable to alcohol (n = 11, 14.3%). Nonvariant group showed a predominance of the toxic substance effects (n = 880, 37.1%), a personal history of suicide attempts (n = 634, 26.7%), and mental and behavioral disorders due to alcohol (n = 336, 14.2%). We analyzed the basic characteristics of variant transferrin by CDT tests using capillary zone electrophoresis. The prevalence of variant transferrin was 3.1% of the study subjects. Male patients, alcohol abusers, and liver cirrhosis patients predominated in the variant transferrin population. Further prospective studies are warranted to elucidate variant transferrin in clinical practice. © 2018 Wiley Periodicals, Inc.

Gain-of-function HCN2 variants in genetic epilepsy.

Science.gov (United States)

Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A

2018-02-01

Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes. The p.S632W variant was identified in a patient with idiopathic photosensitive occipital epilepsy and segregated in the family. This variant was also independently identified in an unrelated patient with childhood absence seizures from a European cohort of 238 familial GGE cases. The p.V246M variant was identified in a patient with photo-sensitive GGE and his father diagnosed with juvenile myoclonic epilepsy. Functional studies revealed that both p.S632W and p.V246M had an identical functional impact including a depolarizing shift in the voltage dependence of activation that is consistent with a gain-of-function. In contrast, no biophysical changes resulted from the introduction of common population variants, p.E280K and p.A705T, and the p.R756C variant from EPGP that did not segregate with disease. Our data suggest that HCN2 variants can confer susceptibility to GGE via a gain-of-function mechanism. © 2017 Wiley Periodicals, Inc.

Quantifying evolutionary dynamics from variant-frequency time series

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Khatri, Bhavin S.

2016-09-01

From Kimura’s neutral theory of protein evolution to Hubbell’s neutral theory of biodiversity, quantifying the relative importance of neutrality versus selection has long been a basic question in evolutionary biology and ecology. With deep sequencing technologies, this question is taking on a new form: given a time-series of the frequency of different variants in a population, what is the likelihood that the observation has arisen due to selection or neutrality? To tackle the 2-variant case, we exploit Fisher’s angular transformation, which despite being discovered by Ronald Fisher a century ago, has remained an intellectual curiosity. We show together with a heuristic approach it provides a simple solution for the transition probability density at short times, including drift, selection and mutation. Our results show under that under strong selection and sufficiently frequent sampling these evolutionary parameters can be accurately determined from simulation data and so they provide a theoretical basis for techniques to detect selection from variant or polymorphism frequency time-series.

Somatic cancer variant curation and harmonization through consensus minimum variant level data

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Deborah I. Ritter

2016-11-01

Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes

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Merlin G. Butler

2015-01-01

Full Text Available Classical autism or autistic disorder belongs to a group of genetically heterogeneous conditions known as Autism Spectrum Disorders (ASD. Heritability is estimated as high as 90% for ASD with a recently reported compilation of 629 clinically relevant candidate and known genes. We chose to undertake a descriptive next generation whole exome sequencing case study of 30 well-characterized Caucasian females with autism (average age, 7.7 ± 2.6 years; age range, 5 to 16 years from multiplex families. Genomic DNA was used for whole exome sequencing via paired-end next generation sequencing approach and X chromosome inactivation status. The list of putative disease causing genes was developed from primary selection criteria using machine learning-derived classification score and other predictive parameters (GERP2, PolyPhen2, and SIFT. We narrowed the variant list to 10 to 20 genes and screened for biological significance including neural development, function and known neurological disorders. Seventy-eight genes identified met selection criteria ranging from 1 to 9 filtered variants per female. Five females presented with functional variants of X-linked genes (IL1RAPL1, PIR, GABRQ, GPRASP2, SYTL4 with cadherin, protocadherin and ankyrin repeat gene families most commonly altered (e.g., CDH6, FAT2, PCDH8, CTNNA3, ANKRD11. Other genes related to neurogenesis and neuronal migration (e.g., SEMA3F, MIDN, were also identified.

CDKL5 variants

Science.gov (United States)

Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

2017-01-01

Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

DEFF Research Database (Denmark)

Risgaard, B; Jabbari, R; Refsgaard, L

2013-01-01

More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved......, when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were...... to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research...

A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.

Science.gov (United States)

Miyake, B

1989-02-01

In a survey of the proteins from human hair, a genetic electrophoretic variant has been observed in the high-sulfur protein region. S-carboxymethylated proteins were examined by 15% polyacrylamide gel electrophoresis at pH 8.9. Out of 150 unrelated samples of Japanese head hairs analyzed, 107 showed 6 major high-sulfur protein bands (normal) and the remaining 43 samples showed an additional high-sulfur protein band (variant). Of 21 Caucasian samples analyzed only one variant sample was found. Characterization of the proteins by two-dimensional electrophoresis evidenced a variant protein spot which showed an apparent molecular weight of 30 k Da. Isoelectric points of the high-sulfur proteins ranged from 3.25-3.55 and that of variant protein band from 3.3-3.4. Family studies of 21 matings resulting in 49 children indicated that this variant was inherited in an autosomal fashion.

Subordination and domination in the work spaces. Study on the discipline and its forms of expression

OpenAIRE

Juan Montes Cató

2005-01-01

This paper is about domination in the workplace, focussing on discipline as a means, available to capital, of subordinating labour. Such domination is the key to understanding how employment relations have been affected by the profound transformation in the labour market over recent decades. This article is based on the case of the telecommunications industry in Argentina. The objective is to show how discipline operates in a modern commercial company, focussing not only on direct control...

Difference between age-related macular degeneration and polypoidal choroidal vasculopathy in the hereditary contribution of the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2).

Science.gov (United States)

Yanagisawa, Suiho; Kondo, Naoshi; Miki, Akiko; Matsumiya, Wataru; Kusuhara, Sentaro; Tsukahara, Yasutomo; Honda, Shigeru; Negi, Akira

2011-01-01

To investigate whether the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2) has a different hereditary contribution in neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). We initially conducted a comparative genetic analysis of neovascular AMD and PCV, genotyping the ARMS2 A69S variant in 181 subjects with neovascular AMD, 198 subjects with PCV, and 203 controls in a Japanese population. Genotyping was conducted using TaqMan technology. Results were then integrated into a meta-analysis of previous studies representing an assessment of the association between the ARMS2 A69S variant and neovascular AMD and/or PCV, comprising a total of 3,828 subjects of Asian descent. The Q-statistic test was used to assess between-study heterogeneity. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using a fixed effects model. The genetic effect of the A69S variant was stronger in neovascular AMD (allelic summary OR=3.09 [95% CI, 2.71-3.51], fixed effects parchitecture of this phenotypically heterogeneous disorder.

Dandy-Walker variant in Coffin-Siris syndrome.

Science.gov (United States)

Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

2001-04-22

We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. Copyright 2001 Wiley-Liss, Inc.

Gayl Jones’s Corregidora and Song For Anninho: Historical Revision, Female Diaspora, and Music

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María Rocío Cobo Piñero

2014-12-01

Full Text Available http://dx.doi.org/10.5007/2175-8026.2014n67p37 In this article I analyze how black music may be used to (reinterpret the legacy of slavery in Gayl Jones’s literary works Corregidora (1975 and Song for Anninho (1981. I argue that female Classic Blues from the 1920s functions as a testimony of resistance and as a means to recount the stories featured in these two texts. The U.S. black author uses the cadences, themes, and tropes of the blues in order to decode female versions of the black diaspora in the Americas. In addition, by setting her literary work in Brazil, Jones establishes an inter-American dialogue and imagines polyphonic and syncretic spaces where the blues is the model for historical revision. Inscribing my study within the theoretical frame of black feminist cultural studies, I emphasize the importance of the first person enunciative voice in female blues, as well as in the texts selected.

Determining female consumer’s insight into products and shopping

OpenAIRE

Firend, A.R

2017-01-01

This research explores consumer’s insight into the female sportswear segment for the purpose of improving product development in the clothing industry in South-East Asia, a consumer base consisting of 500 million people. The research aims to clarify the important parameters on which buying decisions are made. The parameters are based on price, function, fit, brand, and design. The methodology used in this research is qualitative and quantitative consisting of participative observations, in-de...

General job performance of first-line supervisors: the role of conscientiousness in determining its effects on subordinate exhaustion.

Science.gov (United States)

Perry, Sara Jansen; Rubino, Cristina; Witt, L A

2011-04-01

In an integrated test of the job demands-resources model and trait activation theory, we predicted that the general job performance of employees who also hold supervisory roles may act as a demand to subordinates, depending on levels of subordinate conscientiousness. In a sample of 313 customer service call centre employees, we found that high-conscientiousness individuals were more likely to experience emotional exhaustion, and low-conscientiousness individuals were less likely as the general job performance of their supervisor improved. The results were curvilinear, such that high-conscientiousness individuals' exhaustion levelled off with very high supervisor performance (two standard deviations above the mean), and low-conscientiousness individuals' exhaustion levelled off as supervisor performance improved from moderate to high. These findings suggest high-conscientiousness employees may efficiently handle demands presented by a low-performing coworker who is their boss, but when performance expectations are high (i.e. high-performing boss), these achievement-oriented employees may direct their resources (i.e. energy and time) towards performance-related efforts at the expense of their well-being. Conversely, low-conscientiousness employees suffer when paired with a low-performing boss, but benefit from a supervisor who demonstrates at least moderate job performance.

Quantifying food intake in socially housed monkeys: social status effects on caloric consumption

Science.gov (United States)

Wilson, Mark E.; Fisher, Jeff; Fischer, Andrew; Lee, Vanessa; Harris, Ruth B.; Bartness, Timothy J.

2008-01-01

Obesity results from a number of factors including socio-environmental influences and rodent models show that several different stressors increase the preference for calorically dense foods leading to an obese phenotype. We present here a non-human primate model using socially housed adult female macaques living in long-term stable groups given access to diets of different caloric density. Consumption of a low fat (LFD; 15% of calories from fat) and a high fat diet (HFD; 45% of calories from fat) was quantified by means of a custom-built, automated feeder that dispensed a pellet of food when activated by a radiofrequency chip implanted subcutaneously in the animal’s wrist. Socially subordinate females showed indices of chronic psychological stress having reduced glucocorticoid negative feedback and higher frequencies of anxiety-like behavior. Twenty-four hour intakes of both the LFD and HFD were significantly greater in subordinates than dominates, an effect that persisted whether standard monkey chow (13% of calories from fat) was present or absent. Furthermore, although dominants restricted their food intake to daylight, subordinates continued to feed at night. Total caloric intake was significantly correlated with body weight change. Collectively, these results show that food intake can be reliably quantified in non-human primates living in complex social environments and suggest that socially-subordinate females consume more calories, suggesting this ethologically relevant model may help understand how psychosocial stress changes food preferences and consumption leading to obesity. PMID:18486158

The Saccharomyces Genome Database Variant Viewer.

Science.gov (United States)

Sheppard, Travis K; Hitz, Benjamin C; Engel, Stacia R; Song, Giltae; Balakrishnan, Rama; Binkley, Gail; Costanzo, Maria C; Dalusag, Kyla S; Demeter, Janos; Hellerstedt, Sage T; Karra, Kalpana; Nash, Robert S; Paskov, Kelley M; Skrzypek, Marek S; Weng, Shuai; Wong, Edith D; Cherry, J Michael

2016-01-04

The Saccharomyces Genome Database (SGD; http://www.yeastgenome.org) is the authoritative community resource for the Saccharomyces cerevisiae reference genome sequence and its annotation. In recent years, we have moved toward increased representation of sequence variation and allelic differences within S. cerevisiae. The publication of numerous additional genomes has motivated the creation of new tools for their annotation and analysis. Here we present the Variant Viewer: a dynamic open-source web application for the visualization of genomic and proteomic differences. Multiple sequence alignments have been constructed across high quality genome sequences from 11 different S. cerevisiae strains and stored in the SGD. The alignments and summaries are encoded in JSON and used to create a two-tiered dynamic view of the budding yeast pan-genome, available at http://www.yeastgenome.org/variant-viewer. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

Silencing women’s sexuality: global AIDS policies and the case of the female condom

Science.gov (United States)

Peters, Anny JTP; van Driel, Francien TM; Jansen, Willy HM

2013-01-01

Introduction The female condom is the only evidence-based AIDS prevention technology that has been designed for the female body; yet, most women do not have access to it. This is remarkable since women constitute the majority of all HIV-positive people living in sub-Saharan Africa, and gender inequality is seen as a driving force of the AIDS epidemic. In this study, we analyze how major actors in the AIDS prevention field frame the AIDS problem, in particular the female condom in comparison to other prevention technologies, in their discourse and policy formulations. Our aim is to gain insight into the discursive power mechanisms that underlie the thinking about AIDS prevention and women’s sexual agency. Methods We analyze the AIDS policies of 16 agencies that constitute the most influential actors in the global response to AIDS. Our study unravels the discursive power of these global AIDS policy actors, when promoting and making choices between AIDS prevention technologies. We conducted both a quantitative and qualitative analysis of how the global AIDS epidemic is being addressed by them, in framing the AIDS problem, labelling of different categories of people for targeting AIDS prevention programmes and in gender marking of AIDS prevention technologies. Results We found that global AIDS policy actors frame the AIDS problem predominantly in the context of gender and reproductive health, rather than that of sexuality and sexual rights. Men’s sexual agency is treated differently from women’s sexual agency. An example of such differentiation and of gender marking is shown by contrasting the framing and labelling of male circumcision as an intervention aimed at the prevention of HIV with that of the female condom. Conclusions The gender-stereotyped global AIDS policy discourse negates women’s agency in sexuality and their sexual rights. This could be an important factor in limiting the scale-up of female condom programmes and hampering universal access to

Diet choice, cortisol reactivity, and emotional feeding in socially housed rhesus monkeys.

Science.gov (United States)

Arce, Marilyn; Michopoulos, Vasiliki; Shepard, Kathryn N; Ha, Quynh-Chau; Wilson, Mark E

2010-11-02

Chronic psychosocial stress produces an array of adverse health consequences that are highly comorbid, including emotional eating, affective disorders, and metabolic syndrome. The consumption of high caloric diets (HCDs) is thought to provide comfort in the face of unrelenting psychosocial stress. Using social subordination in female rhesus monkeys as a model of continual exposure to daily stressors in women, we tested the hypothesis that subordinate females would consume significantly more calories from a HCD compared to dominant females, and this pattern of food intake would be associated with reduced cortisol release and reduced frequency of anxiety-like behaviors. Food intake, parameters of cortisol secretion, and socio-emotional behavior were assessed for 3 weeks during a no choice phase when only a low caloric diet (LCD) was available and during a choice condition when both a LCD and HCD were available. While all animals preferred the HCD, subordinate females consumed significantly more of the HCD than did dominant females. A flattening of the diurnal cortisol rhythm and a greater increase in serum cortisol to an acute social separation occurred during the diet choice condition in all females. Furthermore, the rate of anxiety-like behavior progressively declined during the 3-week choice condition in subordinate but not dominant females. These data provide support for the hypothesis that daily exposure to psychosocial stress increases consumption of calorically dense foods. Furthermore, consumption of HCDs may be a metabolic stressor that synergizes with the psychosocial stress of subordination to further increase the consumption of these diets. Copyright © 2010 Elsevier Inc. All rights reserved.

Fighting Back Against the Encroachment of Patriarchal Power on Female Domains in Wuthering Heights

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Banu Akcesme

2017-07-01

Full Text Available Wuthering Heights can be read as a novel of warfare against women and women-associated spaces to be conquered to prove male superiority, authority and power. This paper aims to discuss how Emily Bronte challenged not only the established Victorian literary traditions but also the prevailing ideals of the Victorian society by subverting the hierarchically constructed power and gender relations with an emphasis on various strategies employed by Heathcliff and Edgar in the war they launch against nature, property and women to conquer, possess and control domestic households, external nature and female body. Their strategies include reductionism which includes the commodification and objectification of female body, separation of women from their female bond, family and female spaces, physical and emotional uprooting which causes the loss of independence, self-confidence and positive self-image, masculinization of nature and home, brutalization through which the female characters are exposed to male violence and oppression and destruction of a sense of security, commitment and resistance. The female characters are disconnected not only from their domestic households and nature but also from female bonds. The sense of placelessness and homelessness along with the lack of female solidarity is aggravated by transforming home and the natural world into an imprisoning, dominating and tyrannical web for women. Bronte ends the novel with a hope that subjugation and subordination does not have to be the inevitable destiny for women who can fight back to restructure the existing power relations and reclaim their bodies and home along with nature turned against them.

Association of Adiposity Genetic Variants With Menarche Timing in 92,105 Women of European Descent

NARCIS (Netherlands)

Fernández-Rhodes, L.; Demerath, E.W.; Cousminer, D.L.; Tao, R.; Dreyfus, J.G.; Esko, T.; Smith, A.V.; Gudnason, V.; Harris, T.B.; Launer, L.; McArdle, P.F.; Yerges-Armstrong, L.M.; Elks, C.E.; Strachan, D.P.; Kutalik, Z.; Vollenweider, P.; Feenstra, B.; Boyd, H.A.; Metspalu, A.; Mihailov, E.; Broer, L.; Zillikens, M.C.; Oostra, B.A.; van Duijn, C.M.; Lunetta, K.L.; Perry, J.R.; Murray, A.; Koller, D.L.; Lai, D.; Corre, T.; Toniolo, D.; Albrecht, E.; Stöckl, D.; Grallert, H.; Gieger, C.; Hayward, C.; Polasek, O.; Rudan, I.; Wilson, J.F.; He, C.; Kraft, P.; Hu, F.B.; Hunter, D.J.; Hottenga, J.J.; Willemsen, G.; Boomsma, D.I.; Byrne, E.M.; Martin, N.G.; Montgomery, G.W.; Warrington, N.M.; Pennell, C.E.; Stolk, L.; Visser, J.A.; Hofman, A.; Uitterlinden, A.G.; Rivadeneira, F.; Lin, P.; Fisher, S.L.; Bierut, L.J.; Crisponi, L.; Porcu, E.; Mangino, M.; Zhai, G.; Spector, T.D.; Buring, J.E.; Rose, L.M.; Ridker, P.M.; Poole, C.; Hirschhorn, J.N.; Murabito, J.M.; Chasman, D.I.; Widén, E.; North, K.E.; Ong, K.K.; Franceschini, N.

2013-01-01

Obesity is of global health concern. There are well-described inverse relationships between female pubertal timing and obesity. Recent genome-wide association studies of age at menarche identified several obesity-related variants. Using data from the ReproGen Consortium, we employed meta-analytical

Sexually dimorphic effects of oxytocin receptor gene (OXTR variants on Harm Avoidance

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Stankova Trayana

2012-07-01

Full Text Available Abstract Background Recent research has suggested that oxytocin receptor gene (OXTR variants may account for individual differences in social behavior, the effects of stress and parenting styles. Little is known, however, on a putative role of the gene in heritable temperamental traits. Methods We addressed effects of two common OXTR variants, rs237900 and rs237902, on personality dimensions in 99 healthy subjects using the Temperament and Character Inventory. Results When sex was controlled for and an OXTR genotype*sex interaction term was included in the regression model, 11% of the variance in Harm Avoidance could be explained (uncorrected p ≤ 0.01. Female carriers of the minor alleles scored highest, and a novel A217T mutation emerged in the most harm avoidant male participant. Conclusions Findings lend support to a modulatory effect of common OXTR variants on Harm Avoidance in healthy caucasian women and invite resequencing of the gene in anxiety phenotypes to identify more explanatory functional variation.

Fare corpi con immagini : Il contributo visuale della velina al carisma di Berlusconi

OpenAIRE

Martinez Tagliavia, Francesca

2015-01-01

In the late 2000s, the image of the velina – hyper-eroticised soubrette of the Italian television – becomes the symbol of the commodification of the female body and of the female subordination in the public space, characterising Berlusconi’s ventennio. Thanks to the epistemological tools of Visual Studies and to the images of contemporary visual culture, the dissertation aims first to analyse how images build the velina’s body. Her visual genealogy brings together iconic and opposed images of...

Female Gynecologists and Their Birth Control Clinics: Eugenics in Practice in 1920s-1930s China.

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David, Mirela

2018-01-01

Yang Chao Buwei, the first Chinese translator of Margaret Sanger's What Every Girl Should Know, was the first female gynecologist to open up a birth control clinic in China. By the 1930s, other female gynecologists, like Guo Taihua, had internalized and combined national and eugenic concerns of race regeneration to focus on the control of women's reproduction. This symbiosis between racial regeneration and birth control is best seen in Yang Chongrui's integration of birth control into her national hygiene program. This article traces the efforts of pioneer gynecologists in giving contraceptive advice at their birth control clinics, which they framed as a humanitarian effort to ease the reproductive burden of working-class women. It also examines their connections with Sanger's international birth control movement, and their advocacy of contraception as practitioners, translators, and educators. The author argues that these Chinese female gynecologists not only borrowed, but adapted, Western scientific knowledge to Chinese social conditions through their writings and translations and in their clinical work.

Female gratification, sexual power and safer sex: female sexuality as an empowering resource among women in Rwanda.

Science.gov (United States)

Skafte, Ina; Silberschmidt, Margrethe

2014-01-01

The gender-based response to HIV in sub-Saharan Africa has tended to reinforce normative stereotypes of women as subordinated, passive and powerless victims, in particular in sexual relations. However, based on qualitative data from Rwanda, this paper argues that such conceptualisations fail to recognise that while women do comply with prevalent social norms, they also challenge these norms and sex becomes a domain in which they can exert power. Female sexuality and sexual gratification - acknowledged and valued by women as well as men - play a pivotal role in the Rwandese mode of sexual intercourse. This provides women a central position in sexual relations, which affords them sexual power. Recognising their sexuality as a resource and drawing upon this 'sexual capital', women are active social agents who have the capacity to manipulate and challenge male dominance in a deliberate strategy both to practice safer sex and to access decision-making power and material resources. This suggests that inherent in sexual relations is a potential for the empowerment of women and the transformation of gender relations.

Carcinoma papilífero da tireoide e suas variantes histológicas associados à tireoidite de Hashimoto Thyroid papillary carcinoma and histologic variants linked to Hashimoto disease

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Murilo Pedreira Neves Junior

2009-10-01

Full Text Available INTRODUÇÃO E OBJETIVO: A associação entre o carcinoma papilífero da tireoide e suas variantes e a tireoidite de Hashimoto (TH é bastante questionada no meio científico, pois compartilham diversos aspectos morfológicos, imuno-histoquímicos e biomoleculares. Os tumores da tireoide representam mais de 90% de todos os cânceres endócrinos e são caracterizados por alterações genéticas, entre as quais envolvem RET (rearranjos e BRAS, RAS, P53 (mutações. Já a TH é uma doença autoimune, caracterizada por falência tireoidiana secundária à destruição autoimune e que apresenta alterações de genes, entre eles RET/PTC, RAS e FAS. O objetivo deste trabalho é descrever a associação do carcinoma papilífero da tireoide com a TH, correlacionando-os com os dados demográficos e suas variantes histológicas. MÉTODO: Realizou-se um estudo de série de 466 casos de pacientes com diagnóstico anatomopatológico de carcinoma papilífero da tireoide de 2000 a dezembro de 2008. Foram feitas aplicações de formulários aos casos, visando coletar os dados demográficos e suas variantes. RESULTADOS: O estudo apresentou uma coexistência de 30% de TH em pacientes com carcinoma papilífero da tireoide. No sexo feminino, houve maior número de casos no grupo com TH, valor de p = 0,046. CONCLUSÃO: A série de casos apresentada mostrou frequência de 30% de TH nos casos de carcinoma papilífero da tireoide, sugerindo uma associação, não apenas casual, que levanta a possibilidade de uma relação de causa e efeito entre tireoidite e desenvolvimento do carcinoma.INTRODUCTION AND OBJECTIVE: The association between papillary thyroid carcinoma and its variants and Hashimoto's thyroiditis is widely questioned in the scientific area, as they both share several morphologic, immunohistochemical and biomolecular aspects. Thyroid tumors represent over 90% of all endocrine cancers and are characterized by genetic changes involving RET (rearrangements and

Subordination and domination in the work spaces. Study on the discipline and its forms of expression

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Juan Montes Cató

2005-11-01

Full Text Available This paper is about domination in the workplace, focussing on discipline as a means, available to capital, of subordinating labour. Such domination is the key to understanding how employment relations have been affected by the profound transformation in the labour market over recent decades. This article is based on the case of the telecommunications industry in Argentina. The objective is to show how discipline operates in a modern commercial company, focussing not only on direct control, but on its symbolic "modern" forms.

The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease

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Angeli, Aikaterini V.; Shoai, Maryam; Deas, Emma; Houlden, Henry; Mehta, Atul; Hughes, Derralynn; Cox, Timothy M.; Deegan, Patrick; Schapira, Anthony H.; Lees, Andrew J.; Limousin, Patricia; Jarman, Paul R.; Bhatia, Kailash P.; Wood, Nicholas W.; Hardy, John; Foltynie, Tom

2014-01-01

Background Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher’s disease (GD), are the strongest known risk factor for Parkinson’s disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. Methods One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing. Results We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. Conclusions Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. PMID:23225227

Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

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Pfeiffer Ronald F

2010-04-01

Full Text Available Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. Methods We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. Results The frequency of affected mothers of the proband with PD (83/167, 49.4% was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4% (Odds Ratio 1.22; 95%CI 0.83 - 1.81. After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. Conclusions These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic m

Identification of low-frequency variants associated with gout and serum uric acid levels

DEFF Research Database (Denmark)

Sulem, Patrick; Gudbjartsson, Daniel F; Walters, G Bragi

2011-01-01

,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed.......48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits....

The Paradox of Power Sharing: Participative Charismatic Leaders have Subordinates with more instead of less Need for Leadership

OpenAIRE

de Vries, R.E.; Pathak, R.D.; Paquin, A.R.

2011-01-01

Although charismatic and participative leaders have been noted for their positive effects on criteria such as performance, job satisfaction, and commitment, few studies have looked at the relations with subordinates' leadership needs. In this study, the relations between charismatic and participative leadership, team outcomes, and a team's need for leadership were investigated. The sample consisted of South Pacific CEOs and their top-level management teams from Fiji, Tonga, Samoa, Vanuatu, an...

The Role of Formal Education, Technical and Management Training on Information Systems (IS) Managers' Managerial Effectiveness as Perceived by Their Subordinates

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Ligon, Jerry; Abdullah, ABM; Talukder, Majharul

2007-01-01

This study examined the relationship between Information Systems (IS) managers' formal education, level of technical and managerial training and their managerial effectiveness as perceived by their subordinates. The study finds that there is a strong positive relationship between the amount of technical training IS managers have received and their…

The Moderating Effect of Interaction Avoidance Between Abusive Supervision and Subordinates' Job Promotions.

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Peltokorpi, Vesa

2017-10-03

While abusive supervision is shown to have negative stress-related effects on targets, less is known about the factors capable of mitigating these negative effects and their career-related outcomes. In this paper, we drew on the transactional model of stress and coping (Lazarus & Folkman, 1986) and the upward mobility theory (Turner, 1960) to explore the moderating effect of subordinates' interaction avoidance between abusive supervision and job promotions. To test this moderating effect, we collected data from 604 full-time employees at three points in time over a 12-month time period in Japan. The findings suggest that interaction avoidance moderates the relationship between abusive supervision and promotions, such that this relationship will be less negative as interaction avoidance increases.

Pseudomonas aeruginosa induces pigment production and enhances virulence in a white phenotypic variant of Staphylococcus aureus.

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Antonic, Vlado; Stojadinovic, Alexander; Zhang, Binxue; Izadjoo, Mina J; Alavi, Mohammad

2013-01-01

Staphyloxanthin is a virulence factor which protects Staphylococcus aureus in stress conditions. We isolated two pigment variants of S. aureus and one strain of Pseudomonas aeruginosa from a single wound infection. S. aureus variants displayed white and yellow colony phenotypes. The sequence of the operons for staphyloxanthin synthesis indicated that coding and promoter regions were identical between the two pigment variants. Quorum sensing controls pigment synthesis in some bacteria. It is also shown that P. aeruginosa quorum-sensing molecules affect S. aureus transcription. We explored whether the co-infecting P. aeruginosa can affect pigment production in the white S. aureus variant. In co-culture experiments between the white variants and a selected number of Gram-positive and Gram-negative bacteria, only P. aeruginosa induced pigment production in the white variant. Gene expression analysis of the white variant did not indicate upregulation of the crtM and other genes known to be involved in pigment production (sigB, sarA, farnesyl pyrophosphate synthase gene [FPP-synthase], hfq). In contrast, transcription of the catalase gene was significantly upregulated after co-culture. P. aeruginosa-induced pigment synthesis and catalase upregulation correlated with increased resistance to polymyxin B, hydrogen peroxide, and the intracellular environment of macrophages. Our data indicate the presence of silent but functional staphyloxanthin synthesis machinery in a white phenotypic variant of S. aureus which is activated by a co-infecting P. aeruginosa via inter-species communication. Another S. aureus virulence factor, catalase is also induced by this co-infecting bacterium. The resulting phenotypic changes are directly correlated with resistance of the white variant to stressful conditions.

Physical Activity across Frailty Phenotypes in Females with Parkinson’s Disease

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Kaitlyn P. Roland

2012-01-01

Full Text Available Females with Parkinson’s disease (PD are vulnerable to frailty. PD eventually leads to decreased physical activity, an indicator of frailty. We speculate PD results in frailty through reduced physical activity. Objective. Determine the contribution of physical activity on frailty in PD (n=15, 65 ± 9 years and non-PD (n=15, 73 ± 14 years females. Methods. Frailty phenotype (nonfrail/prefrail/frail was categorized and 8 hours of physical activity was measured using accelerometer, global positioning system, and self-report. Two-way ANCOVA (age as covariate was used to compare physical activity between disease and frailty phenotypes. Spearman correlation assessed relationships, and linear regression determined associations with frailty. Results. Nonfrail recorded more physical activity (intensity, counts, self-report compared with frail. Self-reported physical activity was greater in PD than non-PD. In non-PD, step counts, light physical activity time, sedentary time, and self-reported physical activity were related to frailty (R=0.91. In PD, only carbidopa-levodopa dose was related to frailty (r=0.61. Conclusion. Physical activity influences frailty in females without PD. In PD females, disease management may be a better indicator of frailty than physical activity. Further investigation into how PD associated factors contribute to frailty is warranted.

Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications

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Oppici, Elisa; Fodor, Krisztian; Paiardini, Alessandro; Williams, Chris; Voltattorni, Carla Borri; Wilmanns, Matthias; Cellini, Barbara

2013-01-01

The substitution of Ser187, a residue located far from the active site of human liver peroxisomal alanine:glyoxylate aminotransferase (AGT), by Phe gives rise to a variant associated with primary hyperoxaluria type I. Unexpectedly, previous studies revealed that the recombinant form of S187F exhibits a remarkable loss of catalytic activity, an increased pyridoxal 5′-phosphate (PLP) binding affinity and a different coenzyme binding mode compared with normal AGT. To shed light on the structural elements responsible for these defects, we solved the crystal structure of the variant to a resolution of 2.9 Å. Although the overall conformation of the variant is similar to that of normal AGT, we noticed: (i) a displacement of the PLP-binding Lys209 and Val185, located on the re and si side of PLP, respectively, and (ii) slight conformational changes of other active site residues, in particular Trp108, the base stacking residue with the pyridine cofactor moiety. This active site perturbation results in a mispositioning of the AGT-pyridoxamine 5′-phosphate (PMP) complex and of the external aldimine, as predicted by molecular modeling studies. Taken together, both predicted and observed movements caused by the S187F mutation are consistent with the following functional properties of the variant: (i) a 300- to 500-fold decrease in both the rate constant of L-alanine half-transamination and the kcat of the overall transamination, (ii) a different PMP binding mode and affinity, and (iii) a different microenvironment of the external aldimine. Proposals for the treatment of patients bearing S187F mutation are discussed on the basis of these results. Proteins 2013; 81:1457–1465. © 2013 Wiley Periodicals, Inc. PMID:23589421

HFE gene variants, iron, and lipids: a novel connection in Alzheimer’s disease

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Ali-Rahmani, Fatima; Schengrund, Cara-Lynne; Connor, James R.

2014-01-01

Iron accumulation and associated oxidative stress in the brain have been consistently found in several neurodegenerative diseases. Multiple genetic studies have been undertaken to try to identify a cause of neurodegenerative diseases but direct connections have been rare. In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. There is also substantial epidemiological, genetic, and molecular evidence of disruption of cholesterol homeostasis in several neurodegenerative diseases, in particular Alzheimer’s disease (AD). Despite the efforts that have been made to identify factors that can trigger the pathological events associated with neurodegenerative diseases they remain mostly unknown. Because molecular phenotypes such as oxidative stress, synaptic failure, neuronal loss, and cognitive decline, characteristics associated with AD, have been shown to result from disruption of a number of pathways, one can easily argue that the phenotype seen may not arise from a linear sequence of events. Therefore, a multi-targeted approach is needed to understand a complex disorder like AD. This can be achieved only when knowledge about interactions between the different pathways and the potential influence of environmental factors on them becomes available. Toward this end, this review discusses what is known about the roles and interactions of iron and cholesterol in neurodegenerative diseases. It highlights the effects of gene variants of HFE (H63D- and C282Y-HFE) on iron and cholesterol metabolism and how they may contribute to understanding the etiology of complex neurodegenerative diseases. PMID:25071582

The subjunctive, a marker of 'subordinance'? A comparison between German and Spanish

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Hans Jörg Busch

2014-05-01

Full Text Available Moods as inflectional paradigms can only have a very general value and function, similar to other verbal categories such as tense and aspect. A comparison with German shows that the subjunctive functions as a marker of subordination and signals that the proposition in which it stands is incomplete and must be interpreted with the help of other contextual elements, for example the meaning of the main or matrix verb, a characteristic that has also been called procedural. Therefore only the indicative can be used to express independent statements. All the communicative functions of the subjunctive, for example to express politeness, will be explained as a result of its procedural character. The article clarifies why the subjunctive is also used with factual propositions, for example after verbs of emotions and ‘aunque’. (37,402 characters with spaces

GCPII Variants, Paralogs and Orthologs

Czech Academy of Sciences Publication Activity Database

Hlouchová, Klára; Navrátil, Václav; Tykvart, Jan; Šácha, Pavel; Konvalinka, Jan

2012-01-01

Roč. 19, č. 9 (2012), s. 1316-1322 ISSN 0929-8673 R&D Projects: GA ČR GAP304/12/0847 Institutional research plan: CEZ:AV0Z40550506 Keywords : PSMA * GCPIII * NAALADase L * splice variants * homologs * PSMAL Subject RIV: CE - Biochemistry Impact factor: 4.070, year: 2012

The Robber Bride: a Dystopian Female World in Margaret Atwood’s Mythology

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Maja Ćuk

2015-06-01

Full Text Available The aim of this paper is to show how Atwood’s reformulations of myths contain hidden political messages from ancient and modern history and can be interpreted from Fredric Jameson’s views on ‘symbolic acts,’ discourse and the ideology of form. Several scholars have explored the symbolic relationship between the three major protagonists in The Robber Bride and fragments of the omnipotent image of the Neolithic deity the White Goddess. As the symbolic counterparts of Diana, Venus and Hecate in the novel, Tony, Roz and Charis demonstrate how women’s integrity has been crippled and how the restoration of female principle is just a utopian idea. However, our analysis has revealed that the younger generation of “goddesses” does not bring hope to the female gender in either the present or the future. Augusta, Paula and Erin symbolize oversimplified and parodied versions of the destructive Hecate in an unpromising world and “the not-good place” that resembles a dystopia. Keywords: Margaret Atwood, The Robber Bride, the White Goddess, a dystopian world, Hecate, Fredric Jameson

Laboratory testing of hemolytic properties of materials that come in contact with blood: Comparative application testing method’s two variants according to the standard ASTM F756 in accordance with ISO 10993-4

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Pavlović Katarina B.

2010-01-01

Full Text Available The presence of hemolytic material in contact with blood may produce increased levels of blood cell lysis and increased levels of plasma hemoglobin. This may induce toxic effects or other effects which may stress the kidneys or other organs. In this paper two variants of in vitro method and obtained results’ comparison were presented for testing of hemolytic properties of six raw materials (Polipropylene Moplen EP 540 P, Policarbonate colorless 164 R-112, Policarbonate brown 164 R-51918, Polietylene NG 3026 K, Polietylene NG - Purell GB 7250, Polietylene VG - Hiplex 5502 for medical device manufacturing and one raw material (Polietylen NG granulate used for infusion solutions’s plastic bottles manufacturing. One of method’s variants relies on raw material direct contact with swine blood and the other on extract of the material contact with swine blood. Both method’s variants imply reading of the absorbance of the supernatant after tubes were incubated and centrifuged. According to values obtained and using the standard curve free hemoglobin concentration is determined and based on this percentage hemolysis of raw material. Positive and negative controls were used in both variants where water for injection (WFI was used as positive control in which partial or complete hemolysis of erythrocytes occurs due to osmotic shock and phosphate buffer saline was used as negative control with no hemolytic property. In this paper comparison of results obtained by both method’s variants for testing of seven raw materials was presented, while these conclusions can not be used neither for all materials, nor for all applications without preliminary testing using both variants and then choosing more sensitive and more reliable one. It was shown and stated in the paper as well that incubation time being 3, 15 or 24 h, had no impact on the variant’s with direct contact sensitivity. This comparative approach was used for drawing conclusions in terms of

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo Investigación de variantes génicas de canales iónicos en pacientes con síndrome del QT largo Investigation of ion channel gene variants in patients with long QT syndrome

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Ernesto Curty

2011-03-01

Full Text Available FUNDAMENTO: A síndrome do QT longo (SQTL é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa para aconselhamento genético e melhor manejo da doença. OBJETIVO: Investigação molecular e análise computacional de variantes gênicas de KCNQ1, KCNH2 e SCN5A associadas à SQTL em famílias portadoras da doença. MÉTODOS: As regiões codificantes dos genes KCNQ1, KCNH2 e SCN5A de pacientes com SQTL e familiares foram sequenciadas e analisadas utilizando o software Geneious ProTM. RESULTADOS: Foram investigadas duas famílias com critérios clínicos para SQTL. A probanda da Família A apresentava QTC = 562 ms, Escore de Schwartz = 5,5. A genotipagem identificou a mutação G1714A no gene KCNH2. Foi observado QTC = 521 ± 42 ms nos familiares portadores da mutação contra QTC = 391 ± 21 ms de não portadores. A probanda da Família B apresentava QTc = 551 ms, Escore de Schwartz = 5. A genotipagem identificou a mutação G1600T, no mesmo gene. A análise dos familiares revelou QTC = 497 ± 42 ms nos portadores da mutação, contra QTC = 404 ± 29 ms nos não portadores. CONCLUSÃO: Foram encontradas duas variantes gênicas previamente associadas à SQTL em duas famílias com diagnóstico clínico de SQTL. Em todos os familiares portadores das mutações foi observado o prolongamento do intervalo QT. Foi desenvolvida uma estratégia para identificação de variantes dos genes KCNQ1, KCNH2 e SCN5A, possibilitando o treinamento de pessoal técnico para futura aplicação na rotina diagnóstica.FUNDAMENTO: El síndrome del QT largo (SQTL es un síndrome arrítmico heredado con aumento del intervalo QT y riesgo de muerte súbita. Mutaciones en los genes KCNQ1, KCNH2 y SCN5A responden por 90% de los casos con genotipo determinado, y el genotipaje es informativo para aconsejamiento gen

Variants of β-lactamase KPC-2 that are resistant to inhibition by avibactam.

Science.gov (United States)

Papp-Wallace, Krisztina M; Winkler, Marisa L; Taracila, Magdalena A; Bonomo, Robert A

2015-07-01

KPC-2 is the most prevalent class A carbapenemase in the world. Previously, KPC-2 was shown to hydrolyze the β-lactamase inhibitors clavulanic acid, sulbactam, and tazobactam. In addition, substitutions at amino acid position R220 in the KPC-2 β-lactamase increased resistance to clavulanic acid. A novel bridged diazabicyclooctane (DBO) non-β-lactam β-lactamase inhibitor, avibactam, was shown to inactivate the KPC-2 β-lactamase. To better understand the mechanistic basis for inhibition of KPC-2 by avibactam, we tested the potency of ampicillin-avibactam and ceftazidime-avibactam against engineered variants of the KPC-2 β-lactamase that possessed single amino acid substitutions at important sites (i.e., Ambler positions 69, 130, 234, 220, and 276) that were previously shown to confer inhibitor resistance in TEM and SHV β-lactamases. To this end, we performed susceptibility testing, biochemical assays, and molecular modeling. Escherichia coli DH10B carrying KPC-2 β-lactamase variants with the substitutions S130G, K234R, and R220M demonstrated elevated MICs for only the ampicillin-avibactam combinations (e.g., 512, 64, and 32 mg/liter, respectively, versus the MICs for wild-type KPC-2 at 2 to 8 mg/liter). Steady-state kinetics revealed that the S130G variant of KPC-2 resisted inactivation by avibactam; the k2/K ratio was significantly lowered 4 logs for the S130G variant from the ratio for the wild-type enzyme (21,580 M(-1) s(-1) to 1.2 M(-1) s(-1)). Molecular modeling and molecular dynamics simulations suggested that the mobility of K73 and its ability to activate S70 (i.e., function as a general base) may be impaired in the S130G variant of KPC-2, thereby explaining the slowed acylation. Moreover, we also advance the idea that the protonation of the sulfate nitrogen of avibactam may be slowed in the S130G variant, as S130 is the likely proton donor and another residue, possibly K234, must compensate. Our findings show that residues S130 as well as K234 and R

MRI and CT of the female pelvis

Energy Technology Data Exchange (ETDEWEB)

Hamm, B. [Charite - Universitaetsmedizin Berlin (Germany). Inst. fuer Radiologie; Forstner, R. (eds.) [Salzburger Landeskliniken, Paracelsus Medizinische Privatuniv., Salzburg (Austria). Universitaetsinst. fuer Radiodiagnostik

2007-07-01

MRI and CT exquisitely depict the anatomy of the female pelvis and offer fascinating diagnostic possibilities in women with pelvic disorders. This volume provides a comprehensive account of the use of these cross-sectional imaging techniques to identify and characterize developmental anomalies and acquired diseases of the female genital tract. Both benign and malignant diseases are considered in depth, and detailed attention is also paid to normal anatomical findings and variants. Further individual chapters focus on the patient with pelvic pain and the use of MRI for pelvimetry during pregnancy and the evaluation of fertility. Throughout, emphasis is placed on the most recent diagnostic and technical advances, and the text is complemented by many detailed and informative illustrations. All of the authors are acknowledged experts in diagnostic imaging of the female pelvis, and the volume will prove an invaluable aid to everyone with an interest in this field. (orig.)

MRI and CT of the female pelvis

International Nuclear Information System (INIS)

Hamm, B.; Forstner, R.

2007-01-01

MRI and CT exquisitely depict the anatomy of the female pelvis and offer fascinating diagnostic possibilities in women with pelvic disorders. This volume provides a comprehensive account of the use of these cross-sectional imaging techniques to identify and characterize developmental anomalies and acquired diseases of the female genital tract. Both benign and malignant diseases are considered in depth, and detailed attention is also paid to normal anatomical findings and variants. Further individual chapters focus on the patient with pelvic pain and the use of MRI for pelvimetry during pregnancy and the evaluation of fertility. Throughout, emphasis is placed on the most recent diagnostic and technical advances, and the text is complemented by many detailed and informative illustrations. All of the authors are acknowledged experts in diagnostic imaging of the female pelvis, and the volume will prove an invaluable aid to everyone with an interest in this field. (orig.)

Defying the Dominant Masculine Identity in D. H. Lawrence’s Novel The Rainbow

Directory of Open Access Journals (Sweden)

Angelina Subrayan

2016-09-01

Full Text Available The active contributions to studies on men and masculinity that comprise a wide scope of cultures support the notion that significant social organisations legitimise the domination of men over women. Men’s dominance over women is ideologically sanctioned in some cultures. However, not all men observe this nature of masculinity as there are some who dispute the dominant type of masculinity by inculcating alternative masculinities which are subordinate in nature. Nevertheless, most men place themselves fittingly in unavoidable circumstances especially in gendered relationships. In this study, there are instances in D.H. Lawrence’s novel, The Rainbow that show how one of the male protagonists rebels against the social convention that advocates stereotyped masculine norm. The purpose of this study is to explicate the male protagonist’s portrayal of subordinate masculinity that flouts the social expectations during the industrial British era. This study applies the concept of Wetherell and Edley to explicate the features associated with subordinate masculinity in a gendered relationship. The fundamental findings reveal that the male protagonist negotiates his dominant masculinity to allow improved relationship with his spouse.

Venous variants and anomalies on routine abdominal multi-detector row CT

International Nuclear Information System (INIS)

Koc, Zafer; Ulusan, Serife; Oguzkurt, Levent; Tokmak, Naime

2007-01-01

Objective: This study aims to determine the types and prevalence rates of anatomic variations of the hepatic veins, portal vein, inferior vena cava and renal veins, and to establish statistical correlations between various anomalies and frequency differences between male and female using multi-detector row computed tomography (CT). Materials and methods: One thousand one hundred and twenty patients (588 men, 532 women) were evaluated with routine abdominal CT. Frequencies of different variants were noted and compared, and correlations between three categories of variation were tested. Results: In total, 1261 abdominal vein variants and anomalies were identified in 756 (67.5%) of 1120 patients. Six hundred and forty-two hepatic vein variants were detected in 468 (41.8%) patients. One or more inferior right hepatic veins were identified in 356 (31.8%) individuals, and tributary hepatic veins were detected in 147 (13.1%) patients. Portal vein variations and anomalies were observed in 307 (27.4%) cases. The most frequent of these was trifurcation (139 patients, 12.4%). A total of 311 inferior vena cava and renal vein variants were identified in 258 (23%) cases. Six patients (0.5%) exhibited inferior vena cava anomalies, 62 (5.5%) had circumaortic renal veins, 53 (4.7%) had retroaortic renal veins, and 210 (18.8%) had multiple renal veins. Conclusion: The prevalence of abdominal vein variations is high, and routine abdominal CT demonstrates these abnormalities very well. The data suggest that hepatic vein variants and multiple right renal veins are more frequent in women than in men, and that hepatic vein variation is correlated with portal vein variation

Venous variants and anomalies on routine abdominal multi-detector row CT

Energy Technology Data Exchange (ETDEWEB)

Koc, Zafer [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey)]. E-mail: koczafer@gmail.com; Ulusan, Serife [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey); Oguzkurt, Levent [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey); Tokmak, Naime [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey)

2007-02-15

Objective: This study aims to determine the types and prevalence rates of anatomic variations of the hepatic veins, portal vein, inferior vena cava and renal veins, and to establish statistical correlations between various anomalies and frequency differences between male and female using multi-detector row computed tomography (CT). Materials and methods: One thousand one hundred and twenty patients (588 men, 532 women) were evaluated with routine abdominal CT. Frequencies of different variants were noted and compared, and correlations between three categories of variation were tested. Results: In total, 1261 abdominal vein variants and anomalies were identified in 756 (67.5%) of 1120 patients. Six hundred and forty-two hepatic vein variants were detected in 468 (41.8%) patients. One or more inferior right hepatic veins were identified in 356 (31.8%) individuals, and tributary hepatic veins were detected in 147 (13.1%) patients. Portal vein variations and anomalies were observed in 307 (27.4%) cases. The most frequent of these was trifurcation (139 patients, 12.4%). A total of 311 inferior vena cava and renal vein variants were identified in 258 (23%) cases. Six patients (0.5%) exhibited inferior vena cava anomalies, 62 (5.5%) had circumaortic renal veins, 53 (4.7%) had retroaortic renal veins, and 210 (18.8%) had multiple renal veins. Conclusion: The prevalence of abdominal vein variations is high, and routine abdominal CT demonstrates these abnormalities very well. The data suggest that hepatic vein variants and multiple right renal veins are more frequent in women than in men, and that hepatic vein variation is correlated with portal vein variation.

Dirty Hands Make Dirty Leaders?! The Effects of Touching Dirty Objects on Rewarding Unethical Subordinates as a Function of a Leader's Self-Interest

NARCIS (Netherlands)

F.M. Cramwinckel (Florien); D. de Cremer (David); M.H. van Dijke (Marius)

2013-01-01

textabstractWe studied the role of social dynamics in moral decision-making and behavior by investigating how physical sensations of dirtiness versus cleanliness influence moral behavior in leader-subordinate relationships, and whether a leader's self-interest functions as a boundary condition to

Perceived gender inequality, sexual communication self-efficacy, and sexual behaviour among female undergraduate students in the Mekong Delta of Vietnam

Science.gov (United States)

Bui, Thanh Cong; Markham, Christine M.; Ross, Michael W.; Williams, Mark L.; Beasley, R. Palmer; Tran, Ly T. H.; Nguyen, Huong T. H.; Le, Thach Ngoc

2012-01-01

Background Worldwide, the literature on sexual behaviour has documented associations between gender-based relationship inequality and sexual communication ability and the actual use of condoms or other contraceptives among young women. This study aimed to examine these associations among undergraduate female students in the Mekong Delta of Vietnam. Methods A cross-sectional survey of 1181 female third-year students from two universities in the Mekong Delta was conducted. Latent variable modelling and logistic regression were employed to examine the hypothesised associations. Results Among the 72.4% of students who had ever had boyfriends, 44.8% indicated that their boyfriends had asked for sex, 13% had had penile–vaginal sex and 10.3% had had oral sex. For those who had had penile–vaginal sex, 33% did not use any contraceptive method, including condoms, during their first sexual intercourse. The greater a student’s perception that women were subordinate to men, the lower her self-efficacy for sexual communication and the lower her actual frequency of discussing safer sex matters and asking her partner to use a condom. Sexual communication self-efficacy was associated with actual contraceptive use (P = 0.039) but only marginally with condom use (P = 0.092) at first sexual intercourse. Conclusion Sexual health promotion strategies should address the influence of gender relations on young women’s sexual communication self-efficacy and the subsequent impact on actual contraceptive and condom use. PMID:22877589

Study of Female Junior Officer Retention and Promotion in the U.S. Navy

Science.gov (United States)

2016-03-01

thesis uses multivariate analytical techniques to examine the effects of demographics, pre- commissioning factors, and job performance on the retention ...JUNIOR OFFICER RETENTION AND PROMOTION IN THE U.S. NAVY by David J. Mundell March 2016 Thesis Advisor: Simona Tick Co-Advisor: Steve...3. REPORT TYPE AND DATES COVERED Master’s thesis 4. TITLE AND SUBTITLE STUDY OF FEMALE JUNIOR OFFICER RETENTION AND PROMOTION IN THE U.S. NAVY 5

Social, state-dependent and environmental modulation of faecal corticosteroid levels in free-ranging female spotted hyenas.

Science.gov (United States)

Goymann, W; East, M L; Wachter, B; Höner, O P; Möstl, E; Van't Hof, T J; Hofer, H

2001-12-07

Little is known about to what extent the sensitivity of the hypothalamic-pituitary-adrenal (HPA) axis may be state dependent and vary in the same species between environments. Here we tested whether the faecal corticosteroid concentrations of matrilineal adult female spotted hyenas are influenced by social and reproductive status in adjacent ecosystems and whether they vary between periods with and without social stress. Females in the Serengeti National Park frequently become socially subordinate intruders in other hyena territories by undertaking long-distance foraging trips to migratory herds, whereas in the Ngorongoro Crater they usually forage inside their own small territories on resident prey. The faecal corticosteroid concentrations in Serengeti females were significantly higher than in Ngorongoro females. Energy expenditure by lactation is exceptionally high in spotted hyenas and this may be reflected in their corticosteroid levels. The faecal corticosteroid levels in both populations were higher in lactating than in non-lactating females. During periods of social stability, faecal corticosteroid concentrations increased in non-lactating females but not in lactating females as social status declined. Lactating Serengeti females had significantly higher faecal corticosteroid concentrations during periods with acute severe social stress than during periods without, indicating that the HPA axis is sensitive to social stimuli even in lactating females. So far few studies have used non-invasive monitoring methods for assessing social stress in freeranging animals. This study demonstrates for the first time, to the authors' knowledge, that corticosteroid concentrations may differ between periods with and without social stress for a free-ranging female mammal and that the modulating effect of social status may depend on reproductive status.

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD

Directory of Open Access Journals (Sweden)

Jennifer Hague

2018-01-01

Full Text Available Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD. NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures. Symptoms in later life are often less specific and include malaise, dizziness, confusion, tiredness and headache. NSIAD is a rare X-linked condition, which is associated with a variable phenotype in males, of whom some present in infancy but others do not become symptomatic until adulthood, or occasionally, never. Female carriers may present with episodes of hyponatremia, usually found incidentally. Literature in this field is limited; namely, two clinical reports describing a female proband, both diagnosed in infancy. We describe, for the first time, the case of an adult female proband with NSIAD, who had longstanding associated symptoms of tiredness, headache, temporary memory loss and mood changes as well as hyponatremia and decreased serum osmolality. A water load test demonstrated an inability to dilute urine and gene sequencing confirmed a recurrent activating mutation in AVPR2. The variant was inherited from the proband’s mother who had had longstanding episodes of transient asymptomatic hyponatremia. This is the third report of a female proband with NSIAD and is the first female reported who sought medical treatment for chronic symptoms from adulthood. This case acts as a reminder of the importance of considering NSIAD as a diagnosis in females of all ages with unexplained hyponatremia.

Engineering Women’s Attitudes and Goals in Choosing Disciplines with above and Below Average Female Representation

OpenAIRE

Dina Verdín; Allison Godwin; Adam Kirn; Lisa Benson; Geoff Potvin

2018-01-01

Women’s participation in engineering remains well below that of men at all degree levels. However, despite the low enrollment of women in engineering as a whole, some engineering disciplines report above average female enrollment. We used multiple linear regression to examine the attitudes, beliefs, career outcome expectations, and career choice of first-year female engineering students enrolled in below average, average, and above average female representation disciplines in engineering. Our...

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Science.gov (United States)

Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmüller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A; Nürnberg, Peter; van Gassen, Koen L I; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

2017-11-01

Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α3-subunit of the GABAA receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α3-subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype

“The Mysterious Other”: Carter’s Japanese Reflections

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Anna Pasolini

2012-11-01

As it has been argued, Carter’s perspective is that of a Western tourist, looking down on Japanese culture and society with an imperial gaze. However, this very point of view proves to be both problematic and productive, for her being a Western foreigner (the imperial Eye, combines with her being a woman, a subject who speaks from an unprivileged position, the subordinated Other in her homeland. Moreover, as Carter declared, she did not know nor was able to learn the Japanese language, thus being forced –and willing- to observe reality with sharpened senses in order to name everything anew, starting from her self-perception of what it means to be a woman and to act as one.   Thus, the author fills in Japanese empty signs with brand new meanings and begins to build up a new system of signification from the ambivalent perspective of a foreign woman, whose otherwise underprivileged position is empowered by the fact of being British. Her impressions of the Japanese world and her reasonings about gendered identities are then conveyed though the powerful, omnipresent image of the mirror. In Carter’s wor(-dsk mirrors and reflections are at the same time both the means which make disruptive and original models and performances possible and effective ways to represent them, since it is through the reflection/projection of Japanese culture into the Western one and through the mirroring of the female subject in the other’s eyes, that female subjectivity is endowed with a new –subversive- potential.

Imaging benign pathology and variants with uptake in 68ga-Dotatate PET/CT studies

International Nuclear Information System (INIS)

Servente, L.; Bianco, C.; Gigirey, V.; Alonso, O.

2017-01-01

Purpose: To evaluate the physiological, anatomical variants and benign lesions in positron emission computed tomography (PET/CT) studies with 68Ga-DOTATATE.Materials and methods: We retrospectively reviewed PET/CT reports scanned with 68Ga-DOTATATE and selected those that contained words in the report related to anatomical, physiological variants and benign tumors. The degree of 68Ga-DOTATATE uptake was evaluated qualitatively and quantitatively by measuring the standarized uptake max value (SUVmax value). The anatomical location, SUVmax value and morphological CT image findings were recorded. All cases had clinical and imaging follow-up. Results: From a total of 772 PET/CT reports, 28 patients were obtained with 33 benign variants or tumors, 14 females and 14 males with a median age of 63 years. Uptake patterns were classified into four groups: anatomic and physiological variants (15), dependent on osteoblastic activity (4), dependent on inflammatory activity (10) and non-neuro-endocrine benign tumors (4).Discussion: Somatostatin receptors are overexpressed not only in the neuroendocrine system but also in other tissues. Physiological, anatomical variants and benign tumors expressing these receptors may be misleading. In the present work the frequency of this finding is 5.1%.Conclusion: Physiological variants and benign lesions (tumor and inflammatory) can accumulate 68Ga-DOTATATE since their tissues can express somatostatin receptors. The semiologic analysis of the tomographic component of this hybrid method enhances the diagnostic efficacy, optimizing PET/CT study performance. (authors) [es

Renal computed angiography. Part I: Renal CT phlebography. Renal veins variants

International Nuclear Information System (INIS)

Al-Amin, M.; Krupev, M.; Hadjidekov, V.; Plachkov, I.

2012-01-01

The changing trend in renal surgery, transplantation and minimal invasive urology implies preprocedure evaluation of renal veins. Development of imaging methods offers new possibilities for venographic visualization. The goal of this study is to present authors experience in visualization of renal veins using 64 MDCT and to evaluate the utility in assessments of their variants. 128 patients (68 females and 60 males, mean age 53,3) with urological complaints underwent 64MDCT examination including CT angiography. Contrast enhancement includes 3-4ml/sec injection flow of 90 ml contrast medium followed by 20 ml saline at the same rate. In 23 out of 128 examined patients some of the common variants of the renal vein is found. 64 MDCT angiography visualize very well renal veins and becomes method of choice in preoperative assessment of renal vein anatomy. (authors)

The Female Media Producer as an Advocate of Women’s Empowerment in Nigeria: The Cross River State Experience

Directory of Open Access Journals (Sweden)

Endong Floribert Patrick C.

2016-12-01

Full Text Available This paper presents an investigation into Nigerian female journalists’ definition of their role vis-à-vis the two concepts of women’s empowerment/emancipation and feminism. It examines the level to which the country’s media and social environment are conducive to feminist journalistic expression. The paper argues that although a good number of female media producers in the country, demonstrate a strong adherence to feminism and women’s empowerment/emancipation, they are hindered from fully materialising their orientation. These hindering factors include, among others, patriarchal socio-professional fixations, weak female representation at decision-making levels in the media, and limited financial resources to create gender sensitive programmes.

Relationship Between Two Common Lipoprotein Lipase Variants and the Metabolic Syndrome and Its Individual Components

DEFF Research Database (Denmark)

Vishram, Julie K. K.; Hansen, Tine W; Torp-Pedersen, Christian

2016-01-01

BACKGROUND: Common lipoprotein lipase (LPL) variants are important determinants of triglycerides (TG) and high-density lipoprotein (HDL) cholesterol (C) concentrations. High TG/low HDL-C tend to cluster with hypertension, glucose intolerance, and abdominal obesity and comprise the metabolic...... syndrome (MetS). The role of LPL variants as a cause of MetS is unclear. This study investigated the relationship between two common LPL variants and the presence of MetS and its individual components. METHODS: Cross-sectional study, including 2348 Danish women (50.7%) and men, age 41-72 years, without...

Detection of ST772 Panton-Valentine leukocidin-positive methicillin-resistant Staphylococcus aureus (Bengal Bay clone and ST22 S. aureus isolates with a genetic variant of elastin binding protein in Nepal

Directory of Open Access Journals (Sweden)

R.H. Pokhrel

2016-05-01

Full Text Available Genetic characteristics were analysed for recent clinical isolates of methicillin-resistant and -susceptible Staphylococcus aureus (MRSA and MSSA respectively in Kathmandu, Nepal. MRSA isolates harbouring Panton-Valentine leukocidin (PVL genes were classified into ST1, ST22 and ST88 with SCCmec-IV and ST772 with SCCmec-V (Bengal Bay clone, while PVL-positive MSSA into ST22, ST30 and ST772. ST22 isolates (PVL-positive MRSA and MSSA, PVL-negative MRSA possessed a variant of elastin binding protein gene (ebpS with an internal deletion of 180 bp, which was similar to that reported for ST121 S. aureus previously outside Nepal. Phylogenetic analysis indicated that the ebpS variant in ST22 might have occurred independently of ST121 strains. This is the first report of ST772 PVL-positive MRSA in Nepal and detection of the deletion variant of ebpS in ST22 S. aureus.

DeepPVP: phenotype-based prioritization of causative variants using deep learning

KAUST Repository

Boudellioua, Imene

2018-05-02

Background: Prioritization of variants in personal genomic data is a major challenge. Recently, computational methods that rely on comparing phenotype similarity have shown to be useful to identify causative variants. In these methods, pathogenicity prediction is combined with a semantic similarity measure to prioritize not only variants that are likely to be dysfunctional but those that are likely involved in the pathogenesis of a patient\\'s phenotype. Results: We have developed DeepPVP, a variant prioritization method that combined automated inference with deep neural networks to identify the likely causative variants in whole exome or whole genome sequence data. We demonstrate that DeepPVP performs significantly better than existing methods, including phenotype-based methods that use similar features. DeepPVP is freely available at https://github.com/bio-ontology-research-group/phenomenet-vp Conclusions: DeepPVP further improves on existing variant prioritization methods both in terms of speed as well as accuracy.

A subordinate status position increases the present value of financial resources for low 2D:4D men.

Science.gov (United States)

Millet, Kobe; Dewitte, Siegfried

2008-01-01

It has been suggested that the ratio of the length of the 2nd and 4th fingers (digit ratio or 2D:4D) is related to prenatal testosterone with lower ratios thought to be influenced by higher prenatal testosterone levels. Accordingly, low 2D:4D has been associated to a number of fitness-related factors, such as high status in competitive sports and in music. Recent evidence suggests that 2D:4D is also related to economic decision making. We combine both streams of research in the present paper. In two studies we manipulated status in two different ways. We found that a subordinate position raises discount rates, consistent with the reasoning that the present utility of money is higher for men in this position. Moreover, the effect was more pronounced for men with a low 2D:4D. There was a significant negative relationship between 2D:4D and level of discounting in a subordinate status position, but no significant relationship emerged in the dominant status position. Our studies add evidence to the recent line of research associating digit ratio and economic decision making. Moreover, our studies show that future 2D:4D research should focus on plausible interactions between 2D:4D and context cues rather than on linear relations. (c) 2007 Wiley-Liss, Inc.

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

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Ana Töpf

Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

Genome-wide meta-analysis of common variant differences between men and women

Science.gov (United States)

Boraska, Vesna; Jerončić, Ana; Colonna, Vincenza; Southam, Lorraine; Nyholt, Dale R.; William Rayner, Nigel; Perry, John R.B.; Toniolo, Daniela; Albrecht, Eva; Ang, Wei; Bandinelli, Stefania; Barbalic, Maja; Barroso, Inês; Beckmann, Jacques S.; Biffar, Reiner; Boomsma, Dorret; Campbell, Harry; Corre, Tanguy; Erdmann, Jeanette; Esko, Tõnu; Fischer, Krista; Franceschini, Nora; Frayling, Timothy M.; Girotto, Giorgia; Gonzalez, Juan R.; Harris, Tamara B.; Heath, Andrew C.; Heid, Iris M.; Hoffmann, Wolfgang; Hofman, Albert; Horikoshi, Momoko; Hua Zhao, Jing; Jackson, Anne U.; Hottenga, Jouke-Jan; Jula, Antti; Kähönen, Mika; Khaw, Kay-Tee; Kiemeney, Lambertus A.; Klopp, Norman; Kutalik, Zoltán; Lagou, Vasiliki; Launer, Lenore J.; Lehtimäki, Terho; Lemire, Mathieu; Lokki, Marja-Liisa; Loley, Christina; Luan, Jian'an; Mangino, Massimo; Mateo Leach, Irene; Medland, Sarah E.; Mihailov, Evelin; Montgomery, Grant W.; Navis, Gerjan; Newnham, John; Nieminen, Markku S.; Palotie, Aarno; Panoutsopoulou, Kalliope; Peters, Annette; Pirastu, Nicola; Polašek, Ozren; Rehnström, Karola; Ripatti, Samuli; Ritchie, Graham R.S.; Rivadeneira, Fernando; Robino, Antonietta; Samani, Nilesh J.; Shin, So-Youn; Sinisalo, Juha; Smit, Johannes H.; Soranzo, Nicole; Stolk, Lisette; Swinkels, Dorine W.; Tanaka, Toshiko; Teumer, Alexander; Tönjes, Anke; Traglia, Michela; Tuomilehto, Jaakko; Valsesia, Armand; van Gilst, Wiek H.; van Meurs, Joyce B.J.; Smith, Albert Vernon; Viikari, Jorma; Vink, Jacqueline M.; Waeber, Gerard; Warrington, Nicole M.; Widen, Elisabeth; Willemsen, Gonneke; Wright, Alan F.; Zanke, Brent W.; Zgaga, Lina; Boehnke, Michael; d'Adamo, Adamo Pio; de Geus, Eco; Demerath, Ellen W.; den Heijer, Martin; Eriksson, Johan G.; Ferrucci, Luigi; Gieger, Christian; Gudnason, Vilmundur; Hayward, Caroline; Hengstenberg, Christian; Hudson, Thomas J.; Järvelin, Marjo-Riitta; Kogevinas, Manolis; Loos, Ruth J.F.; Martin, Nicholas G.; Metspalu, Andres; Pennell, Craig E.; Penninx, Brenda W.; Perola, Markus; Raitakari, Olli; Salomaa, Veikko; Schreiber, Stefan; Schunkert, Heribert; Spector, Tim D.; Stumvoll, Michael; Uitterlinden, André G.; Ulivi, Sheila; van der Harst, Pim; Vollenweider, Peter; Völzke, Henry; Wareham, Nicholas J.; Wichmann, H.-Erich; Wilson, James F.; Rudan, Igor; Xue, Yali; Zeggini, Eleftheria

2012-01-01

The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10−8) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ∼115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits. PMID:22843499

“It’s a Different Condom, Let’s See How It Works”: Young Men’s Reactions to and Experiences of Female Condom Use During an Intervention Trial in South Africa

OpenAIRE

Masvawure, Tsitsi B.; Mantell, Joanne E.; Mabude, Zonke; Ngoloyi, Claudia; Milford, Cecilia; Beksinska, Mags; Smit, Jennifer A.

2013-01-01

Although male partner cooperation is often essential for successful use of the female condom, only a few studies have directly assessed men’s experiences of using the device. We examined barriers to and facilitators of female condom use via qualitative in-depth interviews with 38 young men (18 to 28 years) in South Africa whose partners, all university students, were enrolled in a female condom intervention trial. In all, 21 men used the female condom; the remaining 17 did not attempt use. Th...

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil.

Science.gov (United States)

Alves, L N R; Santos, E V W; Stur, E; Silva Conforti, A M A; Louro, I D

2016-04-27

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20). Using genomic DNA extracted from peripheral blood, polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistically significant differences were observed for genotype distribution of C282Y (P HFE gene allele frequencies for the general population, Pomeranian subpopulation, and patients with HH of ES, Brazil.

Influential aspects of leader’s Bourdieu capitals on Malaysian landscape architecture subordinates’ creativity

Science.gov (United States)

Zahari, R.; Ariffin, M. H.; Othman, N.

2018-02-01

Free Trade Agreements as implemented by Malaysian government calls out local businesses such as landscape architecture consultant firm to explore internationally and strengthen their performance to compete locally. Performance of landscape architecture firm as a design firm depends entirely on creativity of the subordinates in the firm. Past research has neglected studying the influence of a leader’s capitals on subordinates’ creativity, especially in Malaysian landscape architecture firms. The aim of this research is to investigate the influence of subordinates’ perceptions of the leader’s Bourdieu capitals towards promoting subordinate’s creative behaviours in Malaysian Landscape Architecture firms. The sample chosen for this research are subordinates in registered landscape architecture firm. Data was collected using qualitative semi-structured interviews with 13 respondents and analysed using Qualitative Category Coding. Aspects of the leader’s social capital (i.e. knowledge acquisition, problem solving, motivation boosting), human capital (guidance, demotivating leadership, experiential knowledge, knowledge acquisition), and emotional capital (chemistry with leader, respect, knowledge acquisition, trust, understanding, self-inflicted demotivation) that influence subordinates’ creativity were uncovered from the data. The main finding is that the leader’s capitals promote the subordinate landscape architects or assistant landscape architect to be more creative based on three main things, first is knowledge acquisition, motivation, and ability for the leader to influence through positive relationship. The finding contributes to a new way of understanding the leader’s characteristics that influence subordinates’ creativity.

The histone variant macroH2A is an epigenetic regulator of key developmental genes

DEFF Research Database (Denmark)

Buschbeck, Marcus; Uribesalgo, Iris; Wibowo, Indra

2009-01-01

The histone variants macroH2A1 and macroH2A2 are associated with X chromosome inactivation in female mammals. However, the physiological function of macroH2A proteins on autosomes is poorly understood. Microarray-based analysis in human male pluripotent cells uncovered occupancy of both macroH2A ...

Canine parvovirus: the worldwide occurrence of antigenic variants.

Science.gov (United States)

Miranda, Carla; Thompson, Gertrude

2016-09-01

The most important enteric virus infecting canids is canine parvovirus type 2 (CPV-2). CPV is the aetiologic agent of a contagious disease, mainly characterized by clinical gastroenteritis signs in younger dogs. CPV-2 emerged as a new virus in the late 1970s, which could infect domestic dogs, and became distributed in the global dog population within 2 years. A few years later, the virus's original type was replaced by a new genetic and antigenic variant, called CPV-2a. Around 1984 and 2000, virus variants with the single change to Asp or Glu in the VP2 residue 426 were detected (sometimes termed CPV-2b and -2c). The genetic and antigenic changes in the variants have also been correlated with changes in their host range; in particular, in the ability to replicate in cats and also host range differences in canine and other tissue culture cells. CPV-2 variants have been circulating among wild carnivores and have been well-documented in several countries around the world. Here, we have reviewed and summarized the current information about the worldwide distribution and evolution of CPV-2 variants since they emerged, as well as the host ranges they are associated with.

Ankle fracture spur sign is pathognomonic for a variant ankle fracture.

Science.gov (United States)

Hinds, Richard M; Garner, Matthew R; Lazaro, Lionel E; Warner, Stephen J; Loftus, Michael L; Birnbaum, Jacqueline F; Burket, Jayme C; Lorich, Dean G

2015-02-01

The hyperplantarflexion variant ankle fracture is composed of a posterior tibial lip fracture with posterolateral and posteromedial fracture fragments separated by a vertical fracture line. This infrequently reported injury pattern often includes an associated "spur sign" or double cortical density at the inferomedial tibial metaphysis. The objective of this study was to quantitatively establish the association of the ankle fracture spur sign with the hyperplantarflexion variant ankle fracture. Our clinical database of operative ankle fractures was retrospectively reviewed for the incidence of hyperplantarflexion variant and nonvariant ankle fractures as determined by assessment of injury radiographs, preoperative advanced imaging, and intraoperative observation. Injury radiographs were then evaluated for the presence of the spur sign, and association between the spur sign and variant fractures was analyzed. The incidence of the hyperplantarflexion variant fracture among all ankle fractures was 6.7% (43/640). The spur sign was present in 79% (34/43) of variant fractures and absent in all nonvariant fractures, conferring a specificity of 100% in identifying variant fractures. Positive predictive value and negative predictive value were 100% and 99%, respectively. The ankle fracture spur sign was pathognomonic for the hyperplantarflexion variant ankle fracture. It is important to identify variant fractures preoperatively as patient positioning, operative approach, and fixation construct of variant fractures often differ from those employed for osteosynthesis of nonvariant fractures. Identification of the spur sign should prompt acquisition of advanced imaging to formulate an appropriate operative plan to address the variant fracture pattern. Level III, retrospective comparative study. © The Author(s) 2014.

Male rank affects reproductive success and offspring performance in bank voles.

Science.gov (United States)

Kruczek, Małgorzata; Zatorska, Magdalena

2008-07-05

Laboratory studies reveal that in several rodent species the females prefer dominant males as mating partners. Here we investigate the correlation between males' social rank and their reproductive success. Similar numbers of females mating with relatively more dominant or relatively more subordinate males produced a litter, and parturition took place 19-21 days after mating. Relatively more dominant males tended to sire more pups than did relatively more subordinates, but the mean number of offspring per litter did not differ significantly between the two groups. Significantly more pups fathered by relatively more dominant males survived to weaning than those sired by relatively more subordinate fathers. Dominance had a long-term effect on the reproductive activity of the offspring: their rate of sexual maturation was increased. In pups sired by a relatively more dominant father, the uteruses of females, and the testes and accessory sex glands of males, were significantly heavier than those of offspring born to relatively more subordinate males. Our results suggest that social rank is an important determinant of the reproductive success of bank vole males.

Product Variant Master as a Means to Handle Variant Design

DEFF Research Database (Denmark)

Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

1996-01-01

be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules...

ISU GENDER PADA TOKOH PEREMPUAN DALAM NOVEL NAYLA KARYA DJENAR MAESA AYU

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Ruaidah Ruaidah

2012-07-01

Full Text Available This writing is done to know how for the gender issues affects the female characters in the novel Nayla of Djenar Maesa Ayu. The effect of inequality will appears subordination and violence against to women. Subordination and violence are events that affects the female characters in the novel Nayla of  Djenar Maesa Ayu. The author tries to raise the position of women from gender inequality. The figure of Nayla tries to find the self-awareness and the existence of gender inequality. Keywords : Gender, subordination, and violenceCopyright © 2012 by Kafa`ah All right reservedDOI : 10.15548/jk.v2i2.54

Variant selection of martensites in steel welded joints with low transformation temperature weld metals

International Nuclear Information System (INIS)

Takahashi, Masaru; Yasuda, Hiroyuki Y.

2013-01-01

Highlights: ► We examined the variant selection of martensites in the weld metals. ► We also measured the residual stress developed in the butt and box welded joints. ► 24 martensite variants were randomly selected in the butt welded joint. ► High tensile residual stress in the box welded joint led to the strong variant selection. ► We discussed the rule of the variant selection focusing on the residual stress. -- Abstract: Martensitic transformation behavior in steel welded joints with low transformation temperature weld (LTTW) metal was examined focusing on the variant selection of martensites. The butt and box welded joints were prepared with LTTW metals and 980 MPa grade high strength steels. The residual stress of the welded joints, which was measured by a neutron diffraction technique, was effectively reduced by the expansion of the LTTW metals by the martensitic transformation during cooling after the welding process. In the LTTW metals, the retained austenite and martensite phases have the Kurdjumov–Sachs (K–S) orientation relationship. The variant selection of the martensites in the LTTW metals depended strongly on the type of welded joints. In the butt welded joint, 24 K–S variants were almost randomly selected while a few variants were preferentially chosen in the box welded joint. This suggests that the high residual stress developed in the box welded joint accelerated the formation of specific variants during the cooling process, in contrast to the butt welded joint with low residual stress

Comparing Health Literacy in High School Female Students and Their Mothers Regarding Women’s Health

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Marzieh Saeedi Koupai

2017-03-01

Full Text Available Methods: the present study is descriptive-analytical with comparative type and the statistical population included 200 secondary female school students and their mothers who were randomly selected. The tool to collect data was a two-part researcher-made questionnaire the first part whereof involved demographic information and the second part includes 41 questions of health literacy about women’s health in 5 aspects of menstruation hygiene, nutrition, breast self-examination, body activity, iron deficiency anemia. Reliability and validity of the questionnaire were confirmed and the data were analyzed via SPSS22 software. Results: there was not observed any significant difference in three aspects of menstruation hygiene, nutrition and breast self-examination between mean scores of two female groups and their mothers according to Mann-Whitney instability test (p>0.05; however, there was a significant difference in the aspects of body activities and iron deficiency anomia (p<0.05. Conclusion: taking the results of the study, high school female students under study and their mothers have average healthy literacy level regarding women’s health. Therefore, considering the fact that the girls receive greatest education in the field of women’s hygiene from their mothers in the adolescence, the necessity of diagnosing limiters of health literacy in the society and specific attention to the mothers’ teaching and including curriculum of health literacy for female students are advised to promote health. Paper Type: Research Article.

A review of variant hemoglobins interfering with hemoglobin A1c measurement.

Science.gov (United States)

Little, Randie R; Roberts, William L

2009-05-01

Hemoglobin A1c (HbA1c) is used routinely to monitor long-term glycemic control in people with diabetes mellitus, as HbA1c is related directly to risks for diabetic complications. The accuracy of HbA1c methods can be affected adversely by the presence of hemoglobin (Hb) variants or elevated levels of fetal hemoglobin (HbF). The effect of each variant or elevated HbF must be examined with each specific method. The most common Hb variants worldwide are HbS, HbE, HbC, and HbD. All of these Hb variants have single amino acid substitutions in the Hb beta chain. HbF is the major hemoglobin during intrauterine life; by the end of the first year, HbF falls to values close to adult levels of approximately 1%. However, elevated HbF levels can occur in certain pathologic conditions or with hereditary persistence of fetal hemoglobin. In a series of publications over the past several years, the effects of these four most common Hb variants and elevated HbF have been described. There are clinically significant interferences with some methods for each of these variants. A summary is given showing which methods are affected by the presence of the heterozygous variants S, E, C, and D and elevated HbF. Methods are divided by type (immunoassay, ion-exchange high-performance liquid chromatography, boronate affinity, other) with an indication of whether the result is artificially increased or decreased by the presence of a Hb variant. Laboratorians should be aware of the limitations of their method with respect to these interferences. 2009 Diabetes Technology Society.

Association of usf1s2 variant in the upstream stimulatory factor 1 gene with premature coronary artery disease in southern population of Iran

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Najmeh Jouyan

2015-03-01

Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels.

Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.

Science.gov (United States)

Szabó, András; Ludwig, Maren; Hegyi, Eszter; Szépeová, Renata; Witt, Heiko; Sahin-Tóth, Miklós

2015-07-10

Human chymotrypsin C (CTRC) protects against pancreatitis by degrading trypsinogen and thereby curtailing harmful intra-pancreatic trypsinogen activation. Loss-of-function mutations in CTRC increase the risk for chronic pancreatitis. Here we describe functional analysis of eight previously uncharacterized natural CTRC variants tested for potential defects in secretion, proteolytic stability, and catalytic activity. We found that all variants were secreted from transfected cells normally, and none suffered proteolytic degradation by trypsin. Five variants had normal enzymatic activity, whereas variant p.R29Q was catalytically inactive due to loss of activation by trypsin and variant p.S239C exhibited impaired activity possibly caused by disulfide mispairing. Surprisingly, variant p.G214R had increased activity on a small chromogenic peptide substrate but was markedly defective in cleaving bovine β-casein or the natural CTRC substrates human cationic trypsinogen and procarboxypeptidase A1. Mutation p.G214R is analogous to the evolutionary mutation in human mesotrypsin, which rendered this trypsin isoform resistant to proteinaceous inhibitors and conferred its ability to cleave these inhibitors. Similarly to the mesotrypsin phenotype, CTRC variant p.G214R was inhibited poorly by eglin C, ecotin, or a CTRC-specific variant of SGPI-2, and it readily cleaved the reactive-site peptide bonds in eglin C and ecotin. We conclude that CTRC variants p.R29Q, p.G214R, and p.S239C are risk factors for chronic pancreatitis. Furthermore, the mesotrypsin-like CTRC variant highlights how the same natural mutation in homologous pancreatic serine proteases can evolve a new physiological role or lead to pathology, determined by the biological context of protease function. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

The Female Media Producer as an Advocate of Women’s Empowerment in Nigeria: The Cross River State Experience

OpenAIRE

Endong Floribert Patrick C.

2016-01-01

This paper presents an investigation into Nigerian female journalists’ definition of their role vis-à-vis the two concepts of women’s empowerment/emancipation and feminism. It examines the level to which the country’s media and social environment are conducive to feminist journalistic expression. The paper argues that although a good number of female media producers in the country, demonstrate a strong adherence to feminism and women’s empowerment/emancipation, they are hindered from fully ma...

Diet choice, cortisol reactivity, and emotional feeding in socially housed rhesus monkeys

OpenAIRE

Arce, Marilyn; Michopoulos, Vasiliki; Shepard, Kathryn N.; Ha, Quynh-Chau; Wilson, Mark E.

2010-01-01

Chronic psychosocial stress produces an array of adverse health consequences that are highly comorbid, including emotional eating, affective disorders, and metabolic syndrome. The consumption of high caloric diets (HCD) is thought to provide comfort in the face of unrelenting psychosocial stress. Using social subordination in female rhesus monkeys as a model of continual exposure to daily stressors in women, we tested the hypothesis that subordinate females would consume significantly more ca...

Engineered Cpf1 variants with altered PAM specificities.

Science.gov (United States)

Gao, Linyi; Cox, David B T; Yan, Winston X; Manteiga, John C; Schneider, Martin W; Yamano, Takashi; Nishimasu, Hiroshi; Nureki, Osamu; Crosetto, Nicola; Zhang, Feng

2017-08-01

The RNA-guided endonuclease Cpf1 is a promising tool for genome editing in eukaryotic cells. However, the utility of the commonly used Acidaminococcus sp. BV3L6 Cpf1 (AsCpf1) and Lachnospiraceae bacterium ND2006 Cpf1 (LbCpf1) is limited by their requirement of a TTTV protospacer adjacent motif (PAM) in the DNA substrate. To address this limitation, we performed a structure-guided mutagenesis screen to increase the targeting range of Cpf1. We engineered two AsCpf1 variants carrying the mutations S542R/K607R and S542R/K548V/N552R, which recognize TYCV and TATV PAMs, respectively, with enhanced activities in vitro and in human cells. Genome-wide assessment of off-target activity using BLISS indicated that these variants retain high DNA-targeting specificity, which we further improved by introducing an additional non-PAM-interacting mutation. Introducing the identified PAM-interacting mutations at their corresponding positions in LbCpf1 similarly altered its PAM specificity. Together, these variants increase the targeting range of Cpf1 by approximately threefold in human coding sequences to one cleavage site per ∼11 bp.

Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations

DEFF Research Database (Denmark)

Dube, J. B.; Wang, J.; Cao, H.

2015-01-01

.G116S and p.R730W. METHODS AND RESULTS: Genotyping these variants in 3324 Inuit from Alaska, Canada, and Greenland showed they were common, with allele frequencies 10% to 15%. Only p.G116S was associated with dyslipidemia: the increase in LDL cholesterol was 0.54 mmol/L (20.9 mg/dL) per allele (P=5.6x...

Genitourinary Injuries Sustained by Female U.S. Service Members During Operation Iraqi Freedom and Operation Enduring Freedom

Science.gov (United States)

2017-10-07

2. REPORT TYPE 10/07/2017 Presentation 4. TITLE AND SUBTITLE GENITOURINARY INJURIES SUSTAINED BY FEMALE U.S. SERVICE MEMBERS DURING OPERATION...for increased female GU injuries in future conflicts and the long-term sequelae from these injury patterns. Materials and Methods: The Department of

Hairy cell leukemia-variant

International Nuclear Information System (INIS)

Quadri, Mohammad I.; Al-Sheikh, Iman H.

2001-01-01

Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x10 9/l with 97% being abnormal lymphoid cells with cytoplasmic projections. The morphology, cytochemistry, and immunophenotype of the lymphoid cells were classical of hairy cell leukaemia variant. The bone marrow was easily aspirated and findings were consistent with hairy cell leukaemia variant. (author)

Genome-wide association study identified CNP12587 region underlying height variation in Chinese females.

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Yin-Ping Zhang

Full Text Available Human height is a highly heritable trait considered as an important factor for health. There has been limited success in identifying the genetic factors underlying height variation. We aim to identify sequence variants associated with adult height by a genome-wide association study of copy number variants (CNVs in Chinese.Genome-wide CNV association analyses were conducted in 1,625 unrelated Chinese adults and sex specific subgroup for height variation, respectively. Height was measured with a stadiometer. Affymetrix SNP6.0 genotyping platform was used to identify copy number polymorphisms (CNPs. We constructed a genomic map containing 1,009 CNPs in Chinese individuals and performed a genome-wide association study of CNPs with height.We detected 10 significant association signals for height (p<0.05 in the whole population, 9 and 11 association signals for Chinese female and male population, respectively. A copy number polymorphism (CNP12587, chr18:54081842-54086942, p = 2.41 × 10(-4 was found to be significantly associated with height variation in Chinese females even after strict Bonferroni correction (p = 0.048. Confirmatory real time PCR experiments lent further support for CNV validation. Compared to female subjects with two copies of the CNP, carriers of three copies had an average of 8.1% decrease in height. An important candidate gene, ubiquitin-protein ligase NEDD4-like (NEDD4L, was detected at this region, which plays important roles in bone metabolism by binding to bone formation regulators.Our findings suggest the important genetic variants underlying height variation in Chinese.

Pseudomonas aeruginosa induces pigment production and enhances virulence in a white phenotypic variant of Staphylococcus aureus

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Antonic V

2013-11-01

Full Text Available Vlado Antonic,1–3 Alexander Stojadinovic,3–5 Binxue Zhang,1–3 Mina J Izadjoo,1–3,5 Mohammad Alavi1–3 1Henry M Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA; 2Diagnostic and Translational Research Center, Gaithersburg, MD, USA; 3Combat Wound Initiative Program, Bethesda, MD, USA; 4Walter Reed National Military Medical Center, Bethesda, MD, USA; 5Uniformed Services University of the Health Sciences, Bethesda, MD, USA Abstract: Staphyloxanthin is a virulence factor which protects Staphylococcus aureus in stress conditions. We isolated two pigment variants of S. aureus and one strain of Pseudomonas aeruginosa from a single wound infection. S. aureus variants displayed white and yellow colony phenotypes. The sequence of the operons for staphyloxanthin synthesis indicated that coding and promoter regions were identical between the two pigment variants. Quorum sensing controls pigment synthesis in some bacteria. It is also shown that P. aeruginosa quorum-sensing molecules affect S. aureus transcription. We explored whether the co-infecting P. aeruginosa can affect pigment production in the white S. aureus variant. In co-culture experiments between the white variants and a selected number of Gram-positive and Gram-negative bacteria, only P. aeruginosa induced pigment production in the white variant. Gene expression analysis of the white variant did not indicate upregulation of the crtM and other genes known to be involved in pigment production (sigB, sarA, farnesyl pyrophosphate synthase gene [FPP-synthase], hfq. In contrast, transcription of the catalase gene was significantly upregulated after co-culture. P. aeruginosa-induced pigment synthesis and catalase upregulation correlated with increased resistance to polymyxin B, hydrogen peroxide, and the intracellular environment of macrophages. Our data indicate the presence of silent but functional staphyloxanthin synthesis machinery in a white phenotypic variant

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

DEFF Research Database (Denmark)

Ahlborn, Lise B; Dandanell, Mette; Steffensen, Ane Y

2015-01-01

by functional analysis at the protein level. Results from a validated mini-gene splicing assay indicated that nine BRCA1 variants resulted in splicing aberrations leading to truncated transcripts and thus can be considered pathogenic (c.4987A>T/p.Met1663Leu, c.4988T>A/p.Met1663Lys, c.5072C>T/p.Thr1691Ile, c......Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently...... needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1 variants by in silico splicing analysis and mini-gene splicing assay. All 14 alterations were missense variants located within the BRCT domain of BRCA1 and had previously been examined...

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

Science.gov (United States)

Caduff, Madleina; Bauer, Anina; Jagannathan, Vidhya; Leeb, Tosso

2017-01-01

We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G). The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1). Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2) in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene.

Structural comparisons of two allelic variants of human placental alkaline phosphatase.

Science.gov (United States)

Millán, J L; Stigbrand, T; Jörnvall, H

1985-01-01

A simple immunosorbent purification scheme based on monoclonal antibodies has been devised for human placental alkaline phosphatase. The two most common allelic variants, S and F, have similar amino acid compositions with identical N-terminal amino acid sequences through the first 13 residues. Both variants have identical lectin binding properties towards concanavalin A, lentil-lectin, wheat germ agglutinin, phytohemagglutinin and soybean agglutinin, and identical carbohydrate contents as revealed by methylation analysis. CNBr fragments of the variants demonstrate identical high performance liquid chromatography patterns. The carbohydrate containing fragment is different from the 32P-labeled active site fragment and the N-terminal fragment.

Prebiotic Competition between Information Variants, With Low Error Catastrophe Risks

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Radu Popa

2015-07-01

Full Text Available During competition for resources in primitive networks increased fitness of an information variant does not necessarily equate with successful elimination of its competitors. If variability is added fast to a system, speedy replacement of pre-existing and less-efficient forms of order is required as novel information variants arrive. Otherwise, the information capacity of the system fills up with information variants (an effect referred as “error catastrophe”. As the cost for managing the system’s exceeding complexity increases, the correlation between performance capabilities of information variants and their competitive success decreases, and evolution of such systems toward increased efficiency slows down. This impasse impedes the understanding of evolution in prebiotic networks. We used the simulation platform Biotic Abstract Dual Automata (BiADA to analyze how information variants compete in a resource-limited space. We analyzed the effect of energy-related features (differences in autocatalytic efficiency, energy cost of order, energy availability, transformation rates and stability of order on this competition. We discuss circumstances and controllers allowing primitive networks acquire novel information with minimal “error catastrophe” risks. We present a primitive mechanism for maximization of energy flux in dynamic networks. This work helps evaluate controllers of evolution in prebiotic networks and other systems where information variants compete.

Apolipoprotein AIF gene variant S347 is associated with increased risk of coronary heart disease and lower apolipoprotein AIV plasma concentrations

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Wong, Wai-man R.; Hawe, Emma; Li, Lai K.; Miller, George J.; Nicaud, Viviane; Pennacchio, Len A.; Humphries, Steve E.; Talmud, Philippa J.

2003-01-30

The impact of common variants in the apolipoprotein gene cluster (APOC3-A4-A5) on prospective CHD risk was examined in healthy UK men. Of the 2808 men followed over nine years, 187 had a clinically defined CHD event. Examination of 9 single nucleotide polymorphisms (SNPs) in this group revealed that homozygotes for APOA4 S347 had significantly increased risk of CHD [Hazard ratio (HR) of 2.07 (95%CI 1.04-4.12)] while men homozygous for APOC3 1100T were protected (HR 0.28 (95%CI 0.09-0.87)). In stepwise multiple regression analysis, after entering all the variants and adjusting for established risk factors APOA4 T347S alone remained in the model. Using nine-SNP haplotype analysis, highest risk-estimate haplotypes carried APOA4 S347 and rare alleles of the two flanking intergenic markers. The protective effect of APOC31100T could be explained by negative linkage disequilibrium with these alleles. To determine the association of APOA4 T347S with apoAIVlevels, the relationship was examined in over 1600 healthy young European men and women. S347 homozygotes had significantly lower apoAIV plasma levels (13.48 + 0.6mg/dl) compared to carriers of the T347 allele (14.85 + 0.12 mg/dl) (p=0.025). These results demonstrate that genetic variation in and around APOA4, independent of effects of TG, is associated with risk of CHD and apoAIV levels, supporting an anti-atherogenic role for apoAIV.

A systematic approach to assessing the clinical significance of genetic variants.

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Duzkale, H; Shen, J; McLaughlin, H; Alfares, A; Kelly, M A; Pugh, T J; Funke, B H; Rehm, H L; Lebo, M S

2013-11-01

Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from in vivo or in vitro studies, and computational predictions of potential impacts of each variant. Finally, we weigh all evidence to reach an overall conclusion on the potential for each variant to be disease causing. In this report, we highlight the principles of variant assessment, address the caveats and pitfalls, and provide examples to illustrate the process. By sharing our experience and providing a framework for variant assessment, including access to a freely available customizable tool, we hope to help move towards standardized and consistent approaches to variant assessment. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Feminization of Female Figures in Spanish Women's Poetry of the 1980s

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Sharon Keefe Ugalde

1992-01-01

Full Text Available The paper examines how women poets appropriate and transform man-made biblical and literary figures—Eve, Lot's wife, and Ophelia—in order to express female meaning. Poetry by women published since the democratization of Spain in the late 1970s serves as the basis of the study. Three strategies of feminization stand out. Enhancement reflects the predicament of poets living roles imposed by male denomination, but sensing the presence of a silenced, imprisoned self. Subversion is aimed at dismantling patriarchally defined reality, and revision corresponds to the constructive task of self-discovery. Poets, for example, embrace Ophelia, recognizing that their desperation (like hers is rooted in patriarchal order, and subvert the image of Lot's wife into a demand for autonomy. Eve is revised to communicate the awareness that female subjectivity is closely bound to female eroticism, and perhaps most astonishingly, poor, helpless Ophelia comes to symbolize woman's new freedom and power to inscribe herself.

Variants, Layers of Authorial Intervention, and Texts in Lope de Vega’s La buena guarda and La encomienda bien guardada autograph manuscript

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Stefania Capoia

2014-01-01

Full Text Available In this article I study, analyze and classify the variant readings and the different layers of authorial intervention that appear in Lope de Vega’s La buena guarda and La encomienda bien guardada manuscript. I contend that the second version of the work should be edited, a possibility thus far neglected by modern editors.

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

NARCIS (Netherlands)

Yilmaz, Zeynep; Szatkiewicz, Jin P; Crowley, James J; Ancalade, NaEshia; Brandys, Marek K; van Elburg, Annemarie; de Kovel, Carolien G F; Adan, Roger A H; Hinney, Anke; Hebebrand, Johannes; Gratacos, Monica; Fernandez-Aranda, Fernando; Escaramis, Georgia; Gonzalez, Juan R; Estivill, Xavier; Zeggini, Eleftheria; Sullivan, Patrick F; Bulik, Cynthia M; Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3

Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for

Correlation of morphological variants of the soft palate and Need's ratio in normal individuals: A digital cephalometric study

International Nuclear Information System (INIS)

Verma, Pradhuman; Verma, Kanika Gupta; Sachdeva, Suresh K; Juneja, Suruchi; Kumaraswam; Kikkeri Lakshminarayana; Basavaraju, Suman

2014-01-01

The present study was aimed to investigate the variation of soft palate morphology in different age and gender groups. The correlations of radiographic velar length (VL), velar width (VW), pharyngeal depth (PD), and Need's ratio with soft palate variants were also studied in the North Indian subpopulation. The study sample consisted of 300 subjects aged between 15 and 45 (mean: 31.32) years. The velar morphology on lateral cephalograms was examined and grouped into six types. The results obtained were subjected to a statistical analysis to find the correlation between variants of the soft palate with gender and different age groups. The most frequent type of soft palate was leaf shaped (48.7%), and the least common was crook shaped (3.0%) among both the genders and various age groups, showing a significant correlation. The mean VL, VW, and PD values were significantly higher in males and significantly correlated with the types of soft palate. A significant correlation was observed between the mean VL, VW, PD, and Need's ratio with various age groups, showing an inconsistent pattern with an increase in age. The types of soft palate, gender, and Need's ratio were also significantly correlated, with an overall higher mean value of the Need's ratio among female subjects and the S-shaped soft palate. The knowledge of a varied spectrum of velar morphology and the variants of the soft palate help in a better understanding of the velopharyngeal closure and craniofacial anomalies.

Sibling rivalry: training effects, emergence of dominance and incomplete control.

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Benhaiem, Sarah; Hofer, Heribert; Kramer-Schadt, Stephanie; Brunner, Edgar; East, Marion L

2012-09-22

Within-brood or -litter dominance provides fitness-related benefits if dominant siblings selfishly skew access to food provided by parents in their favour. Models of facultative siblicide assume that dominants exert complete control over their subordinate sibling's access to food and that control is maintained, irrespective of the subordinate's hunger level. By contrast, a recent functional hypothesis suggests that subordinates should contest access to food when the cost of not doing so is high. Here, we show that within spotted hyena (Crocuta crocuta) twin litters, dominants most effectively skew access to maternal milk in their favour when their aggression prompts a highly submissive response. When hungry, subordinates were less submissive in response to aggression, thereby decreasing lost suckling time and increasing suckling time lost by dominants. In a species where adult females socially dominate adult males, juvenile females were more often dominant than males in mixed-sex litters, and subordinate sisters used more effective counter-tactics against dominant brothers than subordinate brothers against dominant sisters. Our results provide, to our knowledge, the first evidence in a mammal that dominant offspring in twin litters do not exert complete control over their sibling's access to resources (milk), and that sibling dominance relationships are influenced by sibling sex and training effects.

Genomic constitution of an H-2:Tla variant leukemia.

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Shen, F W; Chaganti, R S; Doucette, L A; Litman, G W; Steinmetz, M; Hood, L; Boyse, E A

1984-10-01

A TL+ leukemia of a (B6 X A)F1 hybrid mouse (H-2b/H-2a) was previously subjected to immunoselection against H-2a by passage in (B6 X A.SW)F1 mice (H-2b/H-2s). A variant leukemia line was obtained that serologically lacked not only the H-2a phenotype but also the TL phenotype determined by the linked cis Tlaa allele of strain A. The H-2b phenotype and the TL phenotype of the Tlab allele of the B6 strain, which is expressed only by leukemia cells, were retained by the variant. Southern blotting with an H-2 cDNA probe that identifies restriction fragment polymorphisms distinguishing alleles of the H-2 and Tla regions of the B6 and A strains indicates that both the H-2a and Tlaa alleles are missing from the genome of this H-2a:Tlaa negative variant. Since the variant has two apparently unaltered chromosomes 17, where the H-2:Tla complex is situated, and since the intensity of bands in Southern blotting is suggestive of H-2b homozygosity, it is considered that loss of the H-2a:Tlaa haplotype by the variant was accompanied by duplication of the H-2b:Tlab haplotype. The implied change from heterozygosity to homozygosity that the variant has undergone with respect to H-2:Tla was not paralleled by a similar change at the three other loci tested, since the variant retained heterozygosity for Pep-3 (chromosome 1), Gpi-1 (chromosome 7), and Es-1 (chromosome 8).

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

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Refsgaard, Lena; Holst, Anders G; Sadjadieh, Golnaz

2012-01-01

To date, hundreds of variants in 13 genes have been associated with long QT syndrome (LQTS). The prevalence of LQTS is estimated to be between 1:2000 and 1:5000. The knowledge of genetic variation in the general population has until recently been limited, but newly published data from NHLBI GO...... variants KCNH2 P347S; SCN5A: S216L, V1951L; and CAV3 T78M in the control population (n=704) revealed prevalences comparable to those of ESP. Thus, we identified a much higher prevalence of previously LQTS-associated variants than expected in exome data from population studies. Great caution regarding...

Analysis of the MTHFR C677T variant with migraine phenotypes

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Haupt Larisa M

2010-07-01

Full Text Available Abstract Background The methylenetetrahydrofolate reductase (MTHFR gene variant C677T has been implicated as a genetic risk factor in migraine susceptibility, particularly in Migraine with Aura. Migraine, with and without aura (MA and MO have many diagnostic characteristics in common. It is postulated that migraine symptomatic characteristics might themselves be influenced by MTHFR. Here we analysed the clinical profile, migraine symptoms, triggers and treatments of 267 migraineurs previously genotyped for the MTHFR C677T variant. The chi-square test was used to analyse all potential relationships between genotype and migraine clinical variables. Regression analyses were performed to assess the association of C677T with all migraine clinical variables after adjusting for gender. Findings The homozygous TT genotype was significantly associated with MA (P P = 0.002. While the CT genotype was significantly associated with physical activity discomfort (P P = 0.002. Females with the TT genotype were significantly associated with unilateral head pain (P P P = 0.002, and the use of natural remedy for migraine treatment (P = 0.003. Conversely, male migraineurs with the TT genotype experienced higher incidences of bilateral head pain (63% vs 34% and were less likely to use a natural remedy as a migraine treatment compared to female migraineurs (5% vs 20%. Conclusions MTHFR genotype is associated with specific clinical variables of migraine including unilateral head pain, physical activity discomfort and stress.

Kraepelin’s description of chronic mania: a clinical picture that meets the behavioral variant frontotemporal dementia phenotype

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Leandro Boson Gambogi

Full Text Available ABSTRACT Chronic mania is an under-investigated condition and few reports have associated this disorder with an organic background. The present work examines Kraepelin’s reliable description of chronic mania from a current behavioral neurology viewpoint. Kraepelin had described a cluster of symptoms that are now recognized as core manifestations of the behavioral variant frontotemporal dementia (bvFTD clinical phenotype. We also carried out additional reviews of original manuscripts from Kraepelin’s peers, in order to find any case reports that might fulfill the current diagnostic proposal for bvFTD. Even though we failed to find an ideal case, we found some scholars who seemed to agree that chronic mania should be considered a special form of dementia. The present work highlights, through historical data, the possible overlapping features between primary psychiatric disorders and neuropsychiatric symptoms secondary to neurodegenerative conditions.

Heterometallic [AgFe₃S₄] ferredoxin variants: synthesis, characterization, and the first crystal structure of an engineered heterometallic iron–sulfur protein

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Martic, Maja; Simon, Ida Noemi; Haahr, Lærke Tvedebrink

2013-01-01

of the [AgFe3S4] wild type and D14H variants convert to the [Fe3S4] ferredoxin form. The monovalent d 10 silver(I) ion stabilizes the [Fe3S4]+/0 cluster fragment, as opposed to divalent d 10 metal ions, resulting in more than 0.4 V difference in reduction potentials between the silver(I) and, e.g., zinc...

Dianostic and treatment of hemangisarcoma in a female dog’s ovary - Case report

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Luciano Schneider da Silva

2015-06-01

Full Text Available ABSTRACT. da Silva L.S., Santin A.P.I., da Silva J.A., de Freitas S.L.R. & da Silva L.A.F. [Dianostic and treatment of hemangisarcoma in a female dog’s ovary - Case report.] Diagnóstico e tratamento de hemangiossarcoma em ovário de cadela - Relato de caso. Revista Brasileira de Medicina Veterinária, 37(2:123-126, 2015. Patologia Clínica Cirúrgica, Hospital Veterinário, Escola de Veterinária e Zootecnia, Universidade Federal de Goiás, Campus II Samambaia, Caixa Postal 131, Goiânia, GO 74001-970, Brasil. E-mail: lafranco@vet.ufg.br Increase in life expectation in dogs can be attributed to therapeutics advances in Veterinary Medicine. Despite the benefits, longevity makes these animals more susceptible to a variety of diseases like cancer. This paper reports a hemangiosarcoma, weighting 6,5Kg, on the ovary of a Pit Bull, nine years old, female dog, emphasizing diagnostics and treatment. Surgical intervention and post-operative care were performed immediately after complementary exams results were evaluated. The animal was observed during 12 months after surgery in order to evaluate the clinical conditions and the possibility of recurrence. Surgical treatment was important to assist the diagnosis. Recurrence was not observed during the evaluation period. Also, surgical treatment associated with chemotherapy was not necessary.

A rabies virus vampire bat variant shows increased neuroinvasiveness in mice when compared to a carnivore variant.

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Mesquita, Leonardo Pereira; Gamon, Thais Helena Martins; Cuevas, Silvia Elena Campusano; Asano, Karen Miyuki; Fahl, Willian de Oliveira; Iamamoto, Keila; Scheffer, Karin Correa; Achkar, Samira Maria; Zanatto, Dennis Albert; Mori, Cláudia Madalena Cabrera; Maiorka, Paulo César; Mori, Enio

2017-12-01

Rabies is one of the most important zoonotic diseases and is caused by several rabies virus (RABV) variants. These variants can exhibit differences in neurovirulence, and few studies have attempted to evaluate the neuroinvasiveness of variants derived from vampire bats and wild carnivores. The aim of this study was to evaluate the neuropathogenesis of infection with two Brazilian RABV street variants (variant 3 and crab-eating fox) in mice. BALB/c mice were inoculated with RABV through the footpad, with the 50% mouse lethal dose (LD 50 ) determined by intracranial inoculation. The morbidity of rabies in mice infected with variant 3 and the crab-eating fox strain was 100% and 50%, respectively, with an incubation period of 7 and 6 days post-inoculation (dpi), respectively. The clinical disease in mice was similar with both strains, and it was characterized initially by weight loss, ruffled fur, hunched posture, and hind limb paralysis progressing to quadriplegia and recumbency at 9 to 12 dpi. Histological lesions within the central nervous system (CNS) characterized by nonsuppurative encephalomyelitis with neuronal degeneration and necrosis were observed in mice infected with variant 3 and those infected with the crab-eating fox variant. However, lesions and the presence of RABV antigen, were more widespread within the CNS of variant-3-infected mice, whereas in crab-eating fox-variant-infected mice, RABV antigens were more restricted to caudal areas of the CNS, such as the spinal cord and brainstem. In conclusion, the results shown here demonstrate that the RABV vampire bat strain (variant 3) has a higher potential for neuroinvasiveness than the carnivore variant.

The Hidden Work of Women in Small Family Firms in Southern Spain

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Paula Rodríguez-Modroño

2017-01-01

Full Text Available Women have historically played an important hidden role in family firms, and a great deal of research is now shedding light on this role. In spite of the more formal nature of female work at the present day, still a considerable volume of women’s contributions in family firms is unregistered and unpaid, even in developed regions. A questionnaire was administered to 396 women working in small and medium-sized family firms located in Andalucia, a southern European region, characterized by familialism and an important informal economy. Our results confirm the persistence of subordinate forms of unpaid family collaboration due to the neutrality assigned to female contributions under the traditional gendered division of work. But also this study shows how some of the women voluntarily embrace subordinate roles as a temporary way to gain professional experience, useful for their future work inside or outside the family firm.

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

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Tao Wang

2015-09-01

Full Text Available Non-bullous congenital ichthyosiform erythroderma (NBCIE is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. Targeted capture and next-generation sequencing was performed on NBCIE associated genes in the proband and his unaffected consanguineous parents. We identified a homozygous nonsense variant c.814C>T (p.Arg272* in ALOXE3 (NM_001165960.1 in the proband and discovered that his parents are both heterozygous carriers of the variant. The clinical manifestations of the proband’s skin were consistent with NBCIE, and detailed histopathological assessment revealed epidermal bulla formation and Majocchi’s granuloma. Infection with Trichophyton rubrum was confirmed by culture. The patient responded to oral terbinafine antifungal treatment. Decreased skin barrier function, such as that caused by hereditary disorders of keratinization, can increase the risk of severe cutaneous fungal infections and the formation of Majocchi’s granuloma and associated alopecia. Patients with NBCIE should be alerted to the possible predisposition for developing dermatophytoses and warrant close clinical follow-up.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

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Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt; Calabrese, Olga; Felloni, Beatrice; Scusa, Maria Flora; Di Marco, Pietro; Borelli, Paolo; Bonuccelli, Ubaldo; Julu, Peter O O; Nielsen, Jytte Bieber; Morin, Bodil; Hansen, Stig; Gobbi, Giuseppe; Visconti, Paola; Pintaudi, Maria; Edvige, Veneselli; Romanelli, Anna; Bianchi, Fabrizio; Casarano, Manuela; Battini, Roberta; Cioni, Giovanni; Ariani, Francesca; Renieri, Alessandra; Benincasa, Alberto; Delamont, Robert S; Zappella, Michele

2012-02-01

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope. Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype. The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Contrasting patterns of comprehension for superordinate, basic-level, and subordinate names in semantic dementia and aphasic stroke patients.

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Crutch, Sebastian J; Warrington, Elizabeth K

2008-06-01

It is well established that patients with semantic memory impairment show a relative sparing of general superordinate information as compared with more detailed item-specific information. The objective of the current study was to examine whether or not this superordinate superiority effect is also reliably observed in individuals with stroke. The participants were 3 patients with a diagnosis of semantic dementia (SD) and 4 left middle cerebral artery stroke patients. In the first experiment, participants were administered a series of spoken-word-picture matching tasks, in which picture identity was probed under two conditions: item name (e.g., goose, beetle, shark, hedgehog) and superordinate name (e.g., bird, insect, fish, mammal). The SD patients showed the predicted pattern of performance, identifying stimuli significantly more accurately by their superordinate term than by their specific name. By contrast, the stroke patients showed the reverse pattern of inferior performance in the superordinate condition in all versions of the experimental task. In a second experiment comparing comprehension ofbasic-level names (e.g., dog, bird, fish) and subordinate-level names (e.g., Dalmatian, sparrow, trout), stroke patients also showed a reversal of the normal basic-level effect, showing less accurate comprehension of basic-level names. The pattern of results documented among the stroke patients cannot be accommodated obviously or readily by existing models of conceptual knowledge. These contrasting abilities of SD patients, stroke patients, and normal healthy participants to process subordinate, basic-level, and superordinate names are considered in relation to disorders of executive processing and taxonomic categorization.

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

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Madleina Caduff

Full Text Available We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G. The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1. Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2 in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene.

Removal of reproductive suppression reveals latent sex differences in brain steroid hormone receptors in naked mole-rats, Heterocephalus glaber.

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Swift-Gallant, Ashlyn; Mo, Kaiguo; Peragine, Deane E; Monks, D Ashley; Holmes, Melissa M

2015-01-01

Naked mole-rats are eusocial mammals, living in large colonies with a single breeding female and 1-3 breeding males. Breeders are socially dominant, and only the breeders exhibit traditional sex differences in circulating gonadal steroid hormones and reproductive behaviors. Non-reproductive subordinates also fail to show sex differences in overall body size, external genital morphology, and non-reproductive behaviors. However, subordinates can transition to breeding status if removed from their colony and housed with an opposite-sex conspecific, suggesting the presence of latent sex differences. Here, we assessed the expression of steroid hormone receptor and aromatase messenger RNA (mRNA) in the brains of males and females as they transitioned in social and reproductive status. We compared in-colony subordinates to opposite-sex subordinate pairs that were removed from their colony for either 1 day, 1 week, 1 month, or until they became breeders (i.e., produced a litter). Diencephalic tissue was collected and mRNA of androgen receptor (Ar), estrogen receptor alpha (Esr1), progesterone receptor (Pgr), and aromatase (Cyp19a1) was measured using qPCR. Testosterone, 17β-estradiol, and progesterone from serum were also measured. As early as 1 week post-removal, males exhibited increased diencephalic Ar mRNA and circulating testosterone, whereas females had increased Cyp19a1 mRNA in the diencephalon. At 1 month post-removal, females exhibited increased 17β-estradiol and progesterone. The largest changes in steroid hormone receptors were observed in breeders. Breeding females had a threefold increase in Cyp19a1 and fivefold increases in Esr1 and Pgr, whereas breeding males had reduced Pgr and increased Ar. These data demonstrate that sex differences in circulating gonadal steroids and hypothalamic gene expression emerge weeks to months after subordinate animals are removed from reproductive suppression in their home colony.

Female Identity in Doris Lessing’s The Golden Notebook

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Heba Mohamed Abd El Aziz

2018-02-01

Full Text Available In the realm of art in general and literature in particular, the presence of Doris Lessing could not be denied as one of the most influential English novelists in the 1960s. Doris Lessing is a writer who is concerned with the representation of women identity in the West. In her renowned novel, The Golden Notebook Lessing aims at showcasing women identity in Europe and any aspect related to them, i.e., their psychology, political lives, relation to men and children, their place in a male-dominated society and their frequent attempts to escape from the social and political oppression. The aim of this paper is to present a truthful account of female identity from a feminist point of view.

Variants of cellobiohydrolases

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Bott, Richard R.; Foukaraki, Maria; Hommes, Ronaldus Wilhelmus; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Nikolaev, Igor; Sandgren, Mats; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

2018-04-10

Disclosed are a number of homologs and variants of Hypocrea jecorina Ce17A (formerly Trichoderma reesei cellobiohydrolase I or CBH1), nucleic acids encoding the same and methods for producing the same. The homologs and variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted and/or deleted.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

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Jesús, Silvia; Huertas, Ismael; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

2016-01-01

The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

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Silvia Jesús

Full Text Available The presence of mutations in glucocerebrosidase (GBA gene is a known factor increasing the risk of developing Parkinson's disease (PD. Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021, earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013, as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

Diverse Functional Properties of Wilson Disease ATP7B Variants

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Huster, Dominik; Kühne, Angelika; Bhattacharjee, Ashima; Raines, Lily; Jantsch, Vanessa; Noe, Johannes; Schirrmeister, Wiebke; Sommerer, Ines; Sabri, Osama; Berr, Frieder; Mössner, Joachim; Stieger, Bruno; Caca, Karel; Lutsenko, Svetlana

2012-01-01

BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper (64Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and were tagged with green fluorescent protein in mammalian cells using confocal laser scanning microscopy. RESULTS Properties of ATP7B variants with pathogenic amino-acid substitution varied greatly even if substitutions were in the same functional domain. Some variants had complete loss of catalytic and transport activity, whereas others lost transport activity but retained phosphor-intermediate formation or had partial losses of activity. In mammalian cells, transport-competent variants differed in stability and subcellular localization. CONCLUSIONS Variants in ATP7B associated with Wilson disease disrupt the protein’s transport activity, result in its mislocalization, and reduce its stability. Single assays are insufficient to accurately predict the effects of ATP7B variants the function of its product and development of Wilson disease. These findings will contribute to our understanding of genotype–phenotype correlation and mechanisms of disease pathogenesis. PMID:22240481

Antigen Loss Variants: Catching Hold of Escaping Foes.

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Vyas, Maulik; Müller, Rolf; Pogge von Strandmann, Elke

2017-01-01

Since mid-1990s, the field of cancer immunotherapy has seen steady growth and selected immunotherapies are now a routine and preferred therapeutic option of certain malignancies. Both active and passive cancer immunotherapies exploit the fact that tumor cells express specific antigens on the cell surface, thereby mounting an immune response specifically against malignant cells. It is well established that cancer cells typically lose surface antigens following natural or therapy-induced selective pressure and these antigen-loss variants are often the population that causes therapy-resistant relapse. CD19 and CD20 antigen loss in acute lymphocytic leukemia and chronic lymphocytic leukemia, respectively, and lineage switching in leukemia associated with mixed lineage leukemia (MLL) gene rearrangements are well-documented evidences in this regard. Although increasing number of novel immunotherapies are being developed, majority of these do not address the control of antigen loss variants. Here, we review the occurrence of antigen loss variants in leukemia and discuss the therapeutic strategies to tackle the same. We also present an approach of dual-targeting immunoligand effectively retargeting NK cells against antigen loss variants in MLL-associated leukemia. Novel immunotherapies simultaneously targeting more than one tumor antigen certainly hold promise to completely eradicate tumor and prevent therapy-resistant relapses.

Maximum Hours Legislation and Female Employment in the 1920s: A Reasse ssment

OpenAIRE

Claudia Goldin

1986-01-01

The causes and consequences of state maximum hours laws for female workers, passed from the mid-1800s to the 1920s, are explored and are found to differ from a recent reinterpretation. Although maximum hours legislation reduced scheduled hours in 1920, the impact was minimal and it operated equally for men. Legislation affecting only women was symptomatic of a general desire by labor for lower hours, and these lower hours were achieved in the tight, and otherwise special, World War I labor ma...

Quantitative determination of casein genetic variants in goat milk: Application in Girgentana dairy goat breed.

Science.gov (United States)

Montalbano, Maria; Segreto, Roberta; Di Gerlando, Rosalia; Mastrangelo, Salvatore; Sardina, Maria Teresa

2016-02-01

The study was conducted to develop a high-performance liquid chromatographic (HPLC) method to quantify casein genetic variants (αs2-, β-, and κ-casein) in milk of homozygous individuals of Girgentana goat breed. For calibration experiments, pure genetic variants were extracted from individual milk samples of animals with known genotypes. The described HPLC approach was precise, accurate and highly suitable for quantification of goat casein genetic variants of homozygous individuals. The amount of each casein per allele was: αs2-casein A = 2.9 ± 0.8 g/L and F = 1.8 ± 0.4 g/L; β-casein C = 3.0 ± 0.8 g/L and C1 = 2.0 ± 0.7 g/L and κ-casein A = 1.6 ± 0.3 g/L and B = 1.1 ± 0.2 g/L. A good correlation was found between the quantities of αs2-casein genetic variants A and F, and β-casein C and C1 with other previously described method. The main important result was obtained for κ-casein because, till now, no data were available on quantification of single genetic variants for this protein. Copyright © 2015 Elsevier Ltd. All rights reserved.

Literary Commitment in Bessie Head’s Maru

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Elizabeth A. Odhiambo

2013-07-01

Full Text Available This was a study of Bessie Head’s literary commitment. The objective of the study was to interrogate the extent to which the writer is committed as a woman and as a Third World person based on the text Maru. The study adopted the analytical research design. The data collected through content analysis was coded according to thematic concerns, stylistic choices, the mode of characterization and vision of the author. The postcolonial theory was employed in the reading analysis and interpretation of the selected text. The findings reveal that as a woman, Bessie Head is committed to reconstructing a positive image for her female characters by challenging stereotypical perception of women through dismantling of patriarchal structures that previously relegated women to subordinate roles. This is seen in the presentation of the female characters as strong willed, determined, assertive, independent and enterprising. In delineating the experiences of women as women, she explores their most personal convictions thereby presenting their perception of issues as women. As a Third World writer, Head is committed to social justice, exposition of suffering and dehumanization resulting from ethnic prejudice and superstition. She voices for the voiceless by advocating gender equity as a basis for development. On the political arena, she examines issues that ail African politics such as selfish and greedy leadership, oppression and discrimination on basis of race. The text particularly dwells on the racial prejudices and class difference in the society. 

Literary Commitment in Bessie Head’s Maru

Directory of Open Access Journals (Sweden)

Elizabeth A. Odhiambo

2013-07-01

Full Text Available This was a study of Bessie Head’s literary commitment. The objective of the study was to interrogate the extent to which the writer is committed as a woman and as a Third World person based on the text Maru. The study adopted the analytical research design. The data collected through content analysis was coded according to thematic concerns, stylistic choices, the mode of characterization and vision of the author. The postcolonial theory was employed in the reading analysis and interpretation of the selected text. The findings reveal that as a woman, Bessie Head is committed to reconstructing a positive image for her female characters by challenging stereotypical perception of women through dismantling of patriarchal structures that previously relegated women to subordinate roles. This is seen in the presentation of the female characters as strong willed, determined, assertive, independent and enterprising. In delineating the experiences of women as women, she explores their most personal convictions thereby presenting their perception of issues as women. As a Third World writer, Head is committed to social justice, exposition of suffering and dehumanization resulting from ethnic prejudice and superstition. She voices for the voiceless by advocating gender equity as a basis for development. On the political arena, she examines issues that ail African politics such as selfish and greedy leadership, oppression and discrimination on basis of race. The text particularly dwells on the racial prejudices and class difference in the society.

Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.

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Fernlund, Eva; Österberg, A Wålinder; Kuchinskaya, E; Gustafsson, M; Jansson, K; Gunnarsson, C

2017-08-01

Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy. A cascade family screening was performed in the family after identification of the TNNT2 and the BAG3 variants in the proband. The first-degree relatives underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, exercise stress test, and targeted genetic testing. The index patient presented with advanced DCM. After a severe clinical course, the baby had external left ventricular assist as a bridge to heart transplantation. 1.5 months after transplantation, the baby suffered sudden cardiac death (SCD) despite maximal treatment in the pediatric intensive care unit. The patient was shown to carry two heterozygous genetic variants in the TNNT2 gene [TNNT2 c.518G>A(p.Arg173Gln)] and BAG3 [BAG3 c.785C>T(p.Ala262Val)]. Two of the screened individuals (two females) appeared to carry both the familial variants. All the individuals carrying the TNNT2 variant presented with DCM, the two adult patients had mild or moderate symptoms of heart failure and reported palpitations but no syncope or presyncopal attacks prior to the genetic diagnosis. The female carriers of TNNT2 and BAG3 variants had more advanced DCM. In the family history, there were three additional cases of SCD due to DCM, diagnosed by autopsy, but no genetic analysis was possible in these cases. Our findings suggest that the variants in TNNT2 and BAG3 are associated with a high propensity to life-threatening cardiomyopathy presenting from childhood and young adulthood.

Fertility outcome in male and female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Mahdi Kamoun

2014-06-01

Conclusion: Fertility in male and female patients with CAH is reduced. Early and adequate glucocorticoid therapy along with good compliance, careful monitoring of androgen levels and continuous psychological management could contribute to improved fertility rates in this population, even among those with the severe variant.

Variante de Dandy Walker: relato de caso = Dandy Walker variant: a case report

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Khan, Richard Lester

2009-01-01

Conclusões: este artigo procura caracterizar a variante de Dandy Walker, que é uma malformação congênita do sistema nervoso central e é o tipo mais comum da Síndrome de Dandy Walker. Seu fenótipo é variável, devendo-se sempre pesquisar malformações tanto intra quanto extracranianas, visto que o risco de mortalidade pós-natal aumenta quando existe esta associação. O tratamento envolve equipe multidisciplinar e o prognóstico é reservado, variando conforme o fenótipo

Variants of Moreau's sweeping process

International Nuclear Information System (INIS)

Siddiqi, A.H.; Manchanda, P.

2001-07-01

In this paper we prove the existence and uniqueness of two variants of Moreau's sweeping process -u'(t) is an element of Nc (t) (u(t)), where in one variant we replace u(t) by u'(t) in the right-hand side of the inclusion and in the second variant u'(t) and u(t) are respectively replaced by u''(t) and u'(t). (author)

Variantes de lesões intra-epiteliais escamosas: relato de quatro casos Variants of intraepithelial squamous lesions: report of four cases

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Álvaro P. Pinto

2005-04-01

Full Text Available Entre a rotina de biópsias e produtos cirúrgicos provenientes do colo uterino, um número significativo de lesões intra-epiteliais escamosas (LIE pode causar dificuldade quanto a caracterização e graduação histológica. Tais lesões têm sido identificadas e descritas isoladamente por artigos científicos como variantes histológicas de LIE cervicais. São elas a metaplasia papilar imatura atípica (MPIA e as variantes de neoplasia intra-epitelial cervical graus II/III: queratinizante, com padrão metaplásico imaturo de crescimento e escamomucinosa. Neste artigo são exemplificados quatro casos representativos das entidades citadas acima, provenientes das rotinas do Programa de Prevenção do Câncer Ginecológico do Estado do Paraná e de um laboratório privado especializado em patologia ginecológica de Curitiba, o Laboratório de Citopatologia e Anatomia Patológica Annalab. Os principais critérios diagnósticos são descritos, assim como a correlação citológica e molecular relacionada à presença e à localização do ácido nucleico viral (papilomavírus humano [HPV] nas lesões.In routine basis, among biopsies and surgical specimens derived from uterine cervix, a significant number of squamous intraepithelial lesions (SIL may be difficult to diagnose and grade. Some of these lesions were identified, isolated and reported in scientific articles as histological variants of SIL. They are: metaplastic papillary immature atypia (MPIA and the following grade II/III cervical intraepithelial neoplasia variants: keratinized, immature metaplastic-like proliferation and mucin-producing. In this article four cases representative of these variants are described. They were retrieved from the routines of a large scale gynecological cancer screening program and a private laboratory specialized on gynecological pathology, both from Paraná State, Brazil. The main histological criteria for diagnosis are described, as well cytological and

Characterization of form variants of Xenorhabdus luminescens.

Science.gov (United States)

Gerritsen, L J; de Raay, G; Smits, P H

1992-01-01

From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in pigmentation and uptake of dye. Of the two other variants, one produced a yellow pigment and fewer antibiotics (XE-yellow), while the other did not produce a pigment or antibiotics (XE-white). Both were less luminescent, did not take up dye, and had small cell and colony sizes. These two variants were very unstable and shifted to the primary form after 3 to 5 days. It was not possible to separate the primary form and the white variant completely; subcultures of one colony always contained a few colonies of the other variant. The white variant was also found in several other X. luminescens strains. DNA fingerprints showed that all four variants are genetically identical and are therefore derivatives of the same parent. Protein patterns revealed a few differences among the four variants. None of the variants could be considered the secondary form. The pathogenicity of the variants decreased in the following order: XE-red, XE-pink, XE-yellow, and XE-white. The mechanism and function of this variability are discussed. Images PMID:1622273

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

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Pang, Shirley Yin-Yu; Hsu, Jacob Shujui; Teo, Kay-Cheong; Li, Yan; Kung, Michelle H W; Cheah, Kathryn S E; Chan, Danny; Cheung, Kenneth M C; Li, Miaoxin; Sham, Pak-Chung; Ho, Shu-Leong

2017-10-01

Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

Study of the S427G polymorphism and of MYBL2 variants in patients with acute myeloid leukemia.

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Dolz, Sandra; García, Paloma; Llop, Marta; Fuster, Óscar; Luna, Irene; Ibáñez, Mariam; Gómez, Inés; López, María; Such, Esperanza; Cervera, José; Sanz, Miguel A; De Juan, Inmaculada; Palanca, Sarai; Murria, Rosa; Bolufer, Pascual; Barragán, Eva

2015-06-19

Dysregulation of MYBL2 has been associated to tumorigenesis and the S427G polymorphism could induce partial inactivation of MYBL2, associating it with cancer risk. It has previously been shown that MYBL2 was over-expressed in some acute myeloid leukemias (AML), portending poor prognosis. However, to date no studies have investigated the S427G or other genetic variants of MYBL2 in AML. This study analyzed the S427G in 197 AML patients and 179 controls and screened the MYBL2 sequence in patients. In contrast to other studies in solid tumors, the S427G was not associated with the incidence of AML. This study detected four unannotated genetic alterations, of which the Q67X could be involved in MYBL2 dysfunction. Eight polymorphisms were identified, among which the rs73116571, located in a splicing region, was associated with higher incidence in AML and weaker MYBL2 expression, suggesting pre-disposition to AML. Additional functional studies should be performed to verify these genetic variations as possible targets in AML.

Socially regulated reproductive development: analysis of GnRH-1 and kisspeptin neuronal systems in cooperatively breeding naked mole-rats (Heterocephalus glaber).

Science.gov (United States)

Zhou, Shuzhi; Holmes, Melissa M; Forger, Nancy G; Goldman, Bruce D; Lovern, Matthew B; Caraty, Alain; Kalló, Imre; Faulkes, Christopher G; Coen, Clive W

2013-09-01

In naked mole-rat (NMR) colonies, breeding is monopolized by the queen and her consorts. Subordinates experience gonadal development if separated from the queen. To elucidate the neuroendocrine factors underlying reproductive suppression/development in NMRs, we quantified plasma gonadal steroids and GnRH-1- and kisspeptin-immunoreactive (ir) neurons in subordinate adults and in those allowed to develop into breeders, with or without subsequent gonadectomy. In males and females, respectively, plasma testosterone and progesterone are higher in breeders than in subordinates. No such distinction occurs for plasma estradiol; its presence after gonadectomy and its positive correlation with adrenal estradiol suggest an adrenal source. Numbers of GnRH-1-ir cell bodies do not differ between gonad-intact breeders and subordinates within or between the sexes. As in phylogenetically related guinea pigs, kisspeptin-ir processes pervade the internal and external zones of the median eminence. Their distribution is consistent with actions on GnRH-1 neurons at perikaryal and/or terminal levels. In previously investigated species, numbers of kisspeptin-ir cell bodies vary from substantial to negligible according to sex and/or reproductive state. NMRs are exceptional: irrespective of sex, reproductive state, or presence of gonads, substantial numbers of kisspeptin-ir cell bodies are detected in the rostral periventricular region of the third ventricle (RP3V) and in the anterior periventricular (PVa), arcuate, and dorsomedial hypothalamic nuclei. Nevertheless, the greater number in the RP3V/PVa of female breeders compared with female subordinates or male breeders suggests that emergence from a hypogonadotrophic state in females may involve kisspeptin-related mechanisms similar to those underlying puberty or seasonal breeding in other species. Copyright © 2013 Wiley Periodicals, Inc.

ON FEMALE LITERARY FIGURATIONS IN KAMOV’S TRAVESTY ŽENA (WOMAN

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Brigita Miloš

2014-01-01

Full Text Available The aim of this paper is to point out the perceived particularity of individual literary figurations as thresholds of subversion of the ‘economy of the same’. The suggested reading considers various materialities of the text that can refer to the modes of performative structures, as well as to the interpretations of female gender identity positions. When the ‘essence’ of femininity is questionable and the status of gender related ideals relative, then different possibilities of gender performatives are those that generate gender imagery of this Kamov’s literary text.

Random Plant Viral Variants Attain Temporal Advantages During Systemic Infections and in Turn Resist other Variants of the Same Virus.

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Zhang, Xiao-Feng; Guo, Jiangbo; Zhang, Xiuchun; Meulia, Tea; Paul, Pierce; Madden, Laurence V; Li, Dawei; Qu, Feng

2015-10-20

Infection of plants with viruses containing multiple variants frequently leads to dominance by a few random variants in the systemically infected leaves (SLs), for which a plausible explanation is lacking. We show here that SL dominance by a given viral variant is adequately explained by its fortuitous lead in systemic spread, coupled with its resistance to superinfection by other variants. We analyzed the fate of a multi-variant turnip crinkle virus (TCV) population in Arabidopsis and N. benthamiana plants. Both wild-type and RNA silencing-defective plants displayed a similar pattern of random dominance by a few variant genotypes, thus discounting a prominent role for RNA silencing. When introduced to plants sequentially as two subpopulations, a twelve-hour head-start was sufficient for the first set to dominate. Finally, SLs of TCV-infected plants became highly resistant to secondary invasions of another TCV variant. We propose that random distribution of variant foci on inoculated leaves allows different variants to lead systemic movement in different plants. The leading variants then colonize large areas of SLs, and resist the superinfection of lagging variants in the same areas. In conclusion, superinfection resistance is the primary driver of random enrichment of viral variants in systemically infected plants.

Selling Gender: Associations of Box Art Representation of Female Characters With Sales for Teen- and Mature-rated Video Games.

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Near, Christopher E

2013-02-01

Content analysis of video games has consistently shown that women are portrayed much less frequently than men and in subordinate roles, often in "hypersexualized" ways. However, the relationship between portrayal of female characters and videogame sales has not previously been studied. In order to assess the cultural influence of video games on players, it is important to weight differently those games seen by the majority of players (in the millions), rather than a random sample of all games, many of which are seen by only a few thousand people. Box art adorning the front of video game boxes is a form of advertising seen by most game customers prior to purchase and should therefore predict sales if indeed particular depictions of female and male characters influence sales. Using a sample of 399 box art cases from games with ESRB ratings of Teen or Mature released in the US during the period of 2005 through 2010, this study shows that sales were positively related to sexualization of non-central female characters among cases with women present. In contrast, sales were negatively related to the presence of any central female characters (sexualized or non-sexualized) or the presence of female characters without male characters present. These findings suggest there is an economic motive for the marginalization and sexualization of women in video game box art, and that there is greater audience exposure to these stereotypical depictions than to alternative depictions because of their positive relationship to sales.

A case of inbreeding in the African Wild Dog Lycaon pictus in the Kruger National Park

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A. Reich

1978-09-01

Full Text Available An observed case of inbreeding in a pack ot wild dogs Lycaon pictus in the Kruger National Park, Republic of South Africa, provides evidence for the phenomenon of dominance reversal in this species. This is believed to be the first recorded instance of inbreeding in Lycaon. Emigration of subordinate females from established packs of wild dogs has been documented in the Serengeti National Park and Ngorongoro Conservation Area in northern Tanzania, as well as in the Kruger National Park. However, the newly subordinate (ex-dominant female in the pack in which inbreeding has occurred has not emigrated in the 16 months since the change in her status. A possible explanation for this behaviour is given. As a result of this reversal, the pack contains at least two females capable of breeding, the subordinate of which is at least two years older than the dominant. This is considered the first record of such a breeding structure in Lycaon.

Association of ARID5B gene variants with acute lymphoblastic leukemia in Yemeni children.

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Al-Absi, Boshra; Noor, Suzita M; Saif-Ali, Riyadh; Salem, Sameer D; Ahmed, Radwan H; Razif, Muhammad Fm; Muniandy, Sekaran

2017-04-01

Studies have shown an association between ARID5B gene polymorphisms and childhood acute lymphoblastic leukemia. However, the association between ARID5B variants and acute lymphoblastic leukemia among the Arab population still needs to be studied. The aim of this study was to investigate the association between ARID5B variants with acute lymphoblastic leukemia in Yemeni children. A total of 14 ARID5B gene single nucleotide polymorphisms (SNPs) were genotyped in 289 Yemeni children, of whom 136 had acute lymphoblastic leukemia and 153 were controls, using the nanofluidic Dynamic Array (Fluidigm 192.24 Dynamic Array). Using logistic regression adjusted for age and gender, the risks of acute lymphoblastic leukemia were presented as odds ratios and 95% confidence intervals. We found that nine SNPs were associated with acute lymphoblastic leukemia under additive genetic models: rs7073837, rs10740055, rs7089424, rs10821936, rs4506592, rs10994982, rs7896246, rs10821938, and rs7923074. Furthermore, the recessive models revealed that six SNPs were risk factors for acute lymphoblastic leukemia: rs10740055, rs7089424, rs10994982, rs7896246, rs10821938, and rs7923074. The gender-specific impact of these SNPs under the recessive genetic model revealed that SNPs rs10740055, rs10994982, and rs6479779 in females, and rs10821938 and rs7923074 in males were significantly associated with acute lymphoblastic leukemia risk. Under the dominant model, SNPs rs7073837, rs10821936, rs7896246, and rs6479778 in males only showed striking association with acute lymphoblastic leukemia. The additive model revealed that SNPs with significant association with acute lymphoblastic leukemia were rs10821936 (both males and females); rs7073837, rs10740055, rs10994982, and rs4948487 (females only); and rs7089424, rs7896246, rs10821938, and rs7923074 (males only). In addition, the ARID5B haplotype block (CGAACACAA) showed a higher risk for acute lymphoblastic leukemia. The haplotype (CCCGACTGC) was

The Making of the Female Entrepreneur : A Discourse Analysis of Research Texts on Women’s Entrepreneurship

OpenAIRE

Ahl, Helene J.

2002-01-01

Departing from a social constructionist understanding of gender, this thesis examines how the female entrepreneur is constructed in research articles about women’s entrepreneurship. It finds that even if the texts celebrate women’s entrepreneurship, they do it in such a way as to recreate women’s secondary position in society. Building on Foucault’s theory of discourse, the thesis analyzes the discursive practices by which this result was achieved. These practices include certain assumptions ...

Frequency and clinicopathological correlations of histopathological variants of idiopathic focal segmental glomerulosclerosis in nephrotic adolescents

International Nuclear Information System (INIS)

Shakeel, S.; Mubarak, M.; Kazi, J.I.

2014-01-01

Objective: To determine the frequency and clinicopathological correlations of focal segmental glomerulosclerosis variants in adolescents with idiopathic nephrotic syndrome. Methods: All consecutive adolescents (12 to 18 years) who presented with idiopathic nephrotic syndrome in the period, January 2009 to December 2012, and in whom the histological diagnosis of focal segmental glomerulosclerosis was made on renal biopsies, were included in this prospective study. Their clinical, laboratory and histopathological features at the time of presentation or biopsy were noted from the case files and the biopsy reports. Results: Among 50 adolescents, 34 (68%) were males and 16 (32%) females. The mean age was 15.14+-2.3 years. The mean duration of disease was 6.3+-11.2 months. The mean serum creatinine was 0.96+-0.82 mg/dl. The mean 24-hour urinary protein excretion was 3.8+-0.68 grams. Biopsy indications were steroid-resistant nephritic syndrome in 15 (30%), steroid-dependant nephritic syndrome in 19 (38%) and adolescent nephritic syndrome in 16 (32%) cases. Among the focal segmental glomerulosclerosis variants, 40 (80%) were not otherwise specified, followed by the collapsing variant, which accounted for 8 (16%) cases. The tip and cellular variants, both were found in one (2%) case each. Among the histological features, global glomerulosclerosis was found in 23 (46%) cases, and segmental scarring/collapse in all (100%). A variable degree of tubular atrophy and interstitial fibrosis was noted in 44 (88%) cases. Conclusion: The results from this study indicate that the pattern of focal segmental glomerulosclerosis variants differs markedly in adolescents compared with younger children. (author)

Do Low-quality Leader-Member Relationships Matter for Subordinates? Evidence from Three Samples on the Validity of the Norwegian LMX Scale

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Trude Furunes

2015-06-01

Full Text Available Theories on the relations between leaders and subordinates have been of interest to researchers for decades; however, these theories have received less attention in the Nordic countries. The aim of this study is twofold: to investigate the validity of the Leader-Member-Exchange Scale, LMX-7, in three Norwegian samples, and to explore potentially negative relationships between leader–member relationships and work-environment quality indicators. Data were collected from teachers (n = 409, industrial workers (n = 406, and bus drivers (n = 1024. All hypotheses were supported. Results supported use of the measure LMX-7 as indicated by factor structure, high construct validity, sufficient criterion-related validity, discriminant validity, and internal reliability as measured by Cronbach’s alpha above 0.90. Poor quality relationships were associated with higher levels of role conflict, stress, bullying, turnover intentions, age discrimination, and negative affectivity, and lower levels of job satisfaction, commitment, skills utilization, autonomy, participation, perceived fairness, and social support. Potential consequences of low-quality relations and implications of findings are discussed.

Alternative splice variant of the thiazide-sensitive NaCl cotransporter

DEFF Research Database (Denmark)

Tutakhel, Omar A Z; Jeleń, Sabina; Valdez-Flores, Marco

2016-01-01

in comparison to NCC3. Mimicking a constitutively active phosphorylation site at residue 811 (S811D) in NCC1 further augmented Na(+) transport, while a non-phosphorylatable variant (S811A) of NCC1 prevented this enhanced response. Analysis of human urinary exosomes demonstrated that water loading in human...

Swine Influenza/Variant Influenza Viruses

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... Address What's this? Submit What's this? Submit Button Influenza Types Seasonal Avian Swine Variant Pandemic Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

Sexual Orientation Disparities in Human Papillomavirus Vaccination in a Longitudinal Cohort of U.S. Males and Females.

Science.gov (United States)

Charlton, Brittany M; Reisner, Sari L; Agénor, Madina; Gordon, Allegra R; Sarda, Vishnudas; Austin, S Bryn

2017-06-01

This study sought to examine how human papillomavirus (HPV) vaccination may differ across sexual orientation groups (e.g., bisexuals compared to heterosexuals)-particularly in boys and men, about whom little is known. Data were from a prospective cohort of 10,663 U.S. females and males enrolled in the Growing Up Today Study followed from 1996 to 2014. Participants were aged 11-24 years when the vaccine was approved for females in 2006 and 14-27 years when approved for males in 2009. In addition to reporting sexual orientation identity/attractions, participants reported sex of lifetime sexual partners. Log-binominal models were used to examine HPV vaccination across sexual orientation groups. Among females, 56% received ≥1 dose. In contrast, 8% of males obtained ≥1 dose; HPV vaccination initiation was especially low among completely heterosexual males. After adjusting for potential confounders, completely heterosexual (risk ratio [RR]; 95% confidence interval [CI]: 0.45 [0.30-0.68]) and mostly heterosexual (RR; 95% CI: 0.44 [0.25-0.78]) males were half as likely to have received even a single dose compared to gay males. Compared to lesbians, no differences were observed for completely heterosexual or bisexual females, but mostly heterosexual females were 20% more likely to have received at least one dose. HPV vaccination rates in the U.S. are strikingly low and special attention is needed for boys and men, especially those who do not identify as gay. Vaccinating everyone, regardless of sex/gender and/or sexual orientation, will not only lower that individual's susceptibility but also decrease transmission to partners, females and/or males, to help eradicate HPV through herd immunity.

Gaped deficiency distribution and variants in Saudi Arabia: An overview

International Nuclear Information System (INIS)

El-Hazmi, Mohsen A.F.; Warsy, Arjumand S.

2001-01-01

The first report of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Saudi population of the Eastern Province paved the way for extensive investigations to determine the distribution and molecular pathogenesis of G6PD deficiency in Saudis in different parts of the country. During a national study lasting from 1980 to 1993, 24,407 Saudi in 31 different areas of Saudi Arabia screened for G6PD deficiency using spectrophoretic estimation of enzyme activity and electrophoretic separation of the phenotypes. The results in the males and females were separately analyzed and showed a statistically significant difference in the frequency in the male (0.0905) and female (0.041) population (P<0.05). The frequency in the male varied from 0 to 0.398 and in the female from 0 to 0.214. The phenotypes identified included G6PD-A, G6PD-Mediterranean and G6PD-Med-Like with G6PD-B as the normal phenotype in all areas. This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PD-Mediterranean is the major variant producing the severe deficiency state in this population. (author)

Beta-glucosidase variants and polynucleotides encoding same

Science.gov (United States)

Wogulis, Mark; Harris, Paul; Osborn, David

2017-06-27

The present invention relates to beta-glucosidase variants, e.g. beta-glucosidase variants of a parent Family GH3A beta-glucosidase from Aspergillus fumigatus. The present invention also relates to polynucleotides encoding the beta-glucosidase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the beta-glucosidase variants.

Asian-variant intravascular lymphoma in the African race

Directory of Open Access Journals (Sweden)

Holly Geyer

2012-03-01

Full Text Available Intravascular large B-cell lymphoma (IVLBCL is an exceptionally rare form of non- Hodgkin lymphoma (NHL distinguished by the preferential growth of neoplastic cells within blood vessel lumen. Challenging to detect and deemed disseminated at diagnosis, this condition is characterized by a highly aggressive, inconspicuous course with a high mortality rate. We describe the case of a 48 year-old African-American female presenting with a two month history of low-grade fevers and malaise. Laboratory data was notable for anemia, thrombocytopenia, elevated liver function tests, and hematuria. An extensive workup for infectious, rheumatologic and malignant causes was negative. Her symptoms progressed and within two weeks, she was admitted for disseminated intravascular coagulation (DIC. Her course was complicated by diffuse pulmonary hemorrhage and ultimately, care was withdrawn. Autopsy identified widespread CD-20 positive intravascular large B-cell lymphoma with significant hepatosplenic involvement, characteristic of the Asian variant IVLBCL. This case uniquely highlights development of the Asian variant IVLBVL in a previously undescribed race. Identified by its intraluminal vascular growth pattern, IVLBCL generally spares lymphatic channels. Diagnosis and differentiation of this condition from other hematological malignancies via skin, visceral and bone marrow biopsy is imperative as anthracycline-containing chemotherapies may significantly improve clinical outcomes. This article outlines the common presentation, natural course, and treatment options of IVLBCL, along with the histopathology, immunohistochemistry, and chromosomal aberrations common to this condition.

Changing Structures and Women’s Role as Labor Force

Directory of Open Access Journals (Sweden)

Lena Gonäs

2015-06-01

Full Text Available The objective of this paper is to analyze changes in the development of women’s role as labor force over a 40-year period. This is done by presenting research results that concern the restructuring of the labor market over different time periods. The empirical material is from the 1960s, the heyday of the Swedish model; from the 1980s, the period that economic historians label the third industrial revolution; and from the 1990s, a period labeled the new working life that is covering the reorganization of the public sector. For the first period results from restructuring in the shipyard industry are presented as well as employment outcomes for single individuals. This industry was male dominated with very few women employed, but regional policy measures were implemented to reach a latent female labor force. The second period is covered by a study of closures and cutbacks in different industries in Sweden during 1982–1983. The proportion of women employed in the industries studied was around one third and employment outcomes had a specific gendered pattern. Women did to a lower extent than men get new permanent jobs. Permanent temporariness was introduced as a concept to describe their labor market situation. The recession that one decade later hit both female- and male-dominated sectors is illustrated by a study of the relations between labor market attachment, working life, and family conditions. The material comes from a regional research program based on a questionnaire and on register data on incomes from 1990 to 1999. The paper analyzes several areas related to work and outside of work that indicate a gendered pattern of multidimensional subordination and an increased polarization in terms of both gender and class. In conclusion, the 40 years has been a period of dramatic change in women’s situation as labor force. In times of restructuring they often entered into precarious job situations or unemployment. Women’s double burden

Ethnic Differences in Sexual Victimization and Revictimization Among Female U.S. Navy Recruits: A Prospective Study

National Research Council Canada - National Science Library

Stander, Valerie A; Merrill, Lex L; Rabenhorst, Mandy M; Thomsen, Cynthia J; Milner, Joel S

2006-01-01

...) and premilitary rape on the likelihood that female U.S. Navy recruits (N = 465) would experience rape during their first year of military service and to examine ethnic differences in sexual victimization and revictimization...

An Overlapping Case of Miller Fisher Syndrome, Bickerstaff’s Encephalitis, and the ASMAN Variant of Guillain-Barre Syndrome

Directory of Open Access Journals (Sweden)

E. J. Pegg

2016-01-01

Full Text Available A 56-year-old man presented with a 3-day history of progressive tingling of the hands, unsteadiness, and diplopia. He was initially diagnosed clinically with Miller Fisher Syndrome (MFS but later developed limb weakness consistent with Guillain-Barre Syndrome (GBS and subsequently reduced consciousness consistent with Bickerstaff’s brainstem encephalitis (BBE. Neurophysiology revealed an axonal motor and sensory neuropathy, in keeping with the Acute Motor and Sensory Axonal Neuropathy (AMSAN variant of GBS. We believe that our patient had an MFS-AMSAN-BBE overlap syndrome. This is supported by his glycolipid antibody profile with high titres of anti-GQ1b IgG antibody and anti-GD1a IgG antibody. Anti-GQ1b antibodies are frequently found in both MFS and BBE and the anti-GD1a antibody is associated with axonal forms of GBS. Overlapping cases of MFS and BBE are well described, and because the same antibody is often found in both conditions, it is thought that they share a common autoimmune mechanism. BBE has also been previously reported in association with GBS lending support that it also lies on the same spectrum. This overlapping case of ASMAN variant of GBS, MFS, and BBE provides further support that these conditions are part of the same spectrum.

Effect of CLU genetic variants on cerebrospinal fluid and neuroimaging markers in healthy, mild cognitive impairment and Alzheimer’s disease cohorts

OpenAIRE

Tan, Lin; Wang, Hui-Fu; Tan, Meng-Shan; Tan, Chen-Chen; Zhu, Xi-Chen; Miao, Dan; Yu, Wan-Jiang; Jiang, Teng; Tan, Lan; Yu, Jin-Tai; Weiner, Michael W.; Aisen, Paul; Petersen, Ronald; Jack, Clifford R.; Jagust, William

2016-01-01

The Clusterin (CLU) gene, also known as apolipoprotein J (ApoJ), is currently the third most associated late-onset Alzheimer’s disease (LOAD) risk gene. However, little was known about the possible effect of CLU genetic variants on AD pathology in brain. Here, we evaluated the interaction between 7 CLU SNPs (covering 95% of genetic variations) and the role of CLU in β-amyloid (Aβ) deposition, AD-related structure atrophy, abnormal glucose metabolism on neuroimaging and CSF markers to clarify ...

SMALL CELL VARIANT OF OSTEOSARCOMA AT DIAPHYSIS OF TIBIA : A RARE CASE REPORT WITH REVIEW OF LITERATURE

Directory of Open Access Journals (Sweden)

Venkatalakshmi

2015-04-01

Full Text Available Osteosarcoma is the most common primary malignant tumor of bone involving predominantly metaphysis of the long bones. It accounts for 20% of primary bone cancers. Diaphyseal osteosarcoma is a rare form which accounts for approximately 10% of all cases of osteosarcomas. We present a case of Small cell variant of osteosarcoma in a 25 year old female presented in the diaphysis of left tibia

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

1987-01-01

Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report.

Science.gov (United States)

Murry, Jaclyn B; Machini, Kalotina; Ceyhan-Birsoy, Ozge; Kritzer, Amy; Krier, Joel B; Lebo, Matthew S; Fayer, Shawn; Genetti, Casie A; Vannoy, Grace E; Yu, Timothy W; Agrawal, Pankaj B; Parad, Richard B; Holm, Ingrid A; McGuire, Amy L; Green, Robert C; Beggs, Alan H; Rehm, Heidi L; Project, The BabySeq

2018-05-04

Here, we report a newborn female infant from the well-baby cohort of the BabySeq Project who was identified with compound heterozygous BTD gene variants. The two identified variants included a well-established pathogenic variant (c.1612C>T, p.Arg538Cys) that causes profound biotinidase deficiency (BTD) in homozygosity. In addition, a novel splice variant (c.44+1G>A, p.?) was identified in the invariant splice donor region of intron 1, potentially predictive of loss of function. The novel variant was predicted to impact splicing of exon 1; however, given the absence of any reported pathogenic variants in exon 1 and the presence of alternative splicing with exon 1 absent in most tissues in the GTEx database, we assigned an initial classification of uncertain significance. Follow-up medical record review of state mandated newborn screen (NBS) results revealed an initial out-of-range biotinidase activity level. Levels from a repeat NBS sample barely passed cut-off into the normal range. To determine whether the infant was biotinidase deficient, subsequent diagnostic enzyme activity testing was performed, confirming partial BTD, and resulted in a change of management for this patient. This led to reclassification of the novel splice variant based on these results. In conclusion, combining the genetic and NBS results together prompted clinical follow-up that confirmed partial biotinidase deficiency, and informed this novel splice site's reclassification emphasizing the importance of combining iterative genetic and phenotypic evaluations. Cold Spring Harbor Laboratory Press.

Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study.

Science.gov (United States)

Kwak, Taek-Jong; Chang, Yun-Hee; Shin, Young-Ah; Shin, Jung-Min; Kim, Ji-Hye; Lim, Seul-Ki; Lee, Sang-Hwha; Lee, Min-Geol; Yoon, Tae-Jin; Kim, Chang-Deok; Lee, Jeung-Hoon; Koh, Jae Sook; Seo, Young Kyoung; Chang, Min-Youl; Lee, Young

2015-12-01

A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

THE CONSTRUCTION OF THE GLOBAL FEMALE SUBJECTIVITY IN LUCÍA ETXEBARRIA’S COSMOFOBIA

Directory of Open Access Journals (Sweden)

Mazal Oaknín

2015-01-01

Full Text Available Set in the neighbourhood of Lavapiés in Madrid, Lucía Etxebarriaʼs novel Cosmofobia explores the friction produced by the experiences of numerous literary personae from extremely different backgrounds now living in close contact with one another. This article will examine female characterisation in Cosmofobia, to see whether the private and public realm are represented as a similarly complex negotiation of inner and outer selves in the light of the increasingly importance of migration and multiculturalism in Spanish society. Particular attention will be paid to the intersection between the expression of a unique individuality in the form of confessional mode, and the intersubjective elements of women’s experience conveyed in the representation of these characters’ entangled relationships.

Single-variant and multi-variant trend tests for genetic association with next-generation sequencing that are robust to sequencing error.

Science.gov (United States)

Kim, Wonkuk; Londono, Douglas; Zhou, Lisheng; Xing, Jinchuan; Nato, Alejandro Q; Musolf, Anthony; Matise, Tara C; Finch, Stephen J; Gordon, Derek

2012-01-01

lower power than the corresponding single-variant simulation results, most probably due to our specification of multi-variant SNP correlation values. In conclusion, our LTTae,NGS addresses two key challenges with NGS disease studies; first, it allows for differential misclassification when computing the statistic; and second, it addresses the multiple-testing issue in that there is a multi-variant form of the statistic that has only one degree of freedom, and provides a single p value, no matter how many loci. Copyright © 2013 S. Karger AG, Basel.

Gender Inequality in Female-Dominated Occupation: The Earnings of Male and Female Teachers.

Science.gov (United States)

Verdugo, Richard R.; Schneider, Jeffrey M.

1994-01-01

Examines earnings differentials between male and female teachers, using data from the 1987 Schools and Staffing Survey by the U.S. Department of Education. The estimated cost of being a female teacher is 5% in annual contract salary. In the female-dominated teaching profession, despite regulated pay scales and other structures to ensure pay…

Weibliche Arbeitserfahrungen in der DDR Women’s Work experiences in the GDR

Directory of Open Access Journals (Sweden)

Albrecht Wiesener

2001-11-01

Full Text Available Annegret Schüle kommt in ihrer Untersuchung zu dem Ergebnis, dass die DDR-Diktatur das Leben von Frauen mehr veränderte als das der Männer. Ihre auf Interviews basierende Untersuchung fokussiert den (Berufs-Alltag von Frauen in der Leipziger Baumwollspinnerei. Anhand der drei Kategorien „Generation“, „Frauenarbeit“ und „Vergemeinschaftung im Betrieb“ diskutiert sie die geführten Interviews , die Förderung weiblicher Erwerbstätiger einerseits und das Negativimage des Textilbetriebs andererseits. Die Autorin legt eine überzeugende Studie zur Erfahrungsgeschichte weiblicher Industriearbeit vor und zeigt am konkreten Beispiel, wie die DDR-Gesellschaft in einer von Frauen getragenen familiarisierten Betriebskultur nicht aufgebrochen, sondern in einer eigentümlichen Verbindung von Geborgenheit und Unterordnung reproduziert wurde.Schüle argues that the Eastern German dictatorship had a greater impact on the lives of women than on those of their male counterparts. Her research, based on interviews with female workers in a in a cotton-spinning factory in Leipzig, portrays women’s everyday-life and work, and offers a convincing study of the experience of female industrial workers. Using the three categories “cohort,” “women’s work,” and a discourse of “factory-as-community,” Schüle discusses her interviews with respect to the promotion of female textile workers on the one hand and the negative stereotypes associated with working in the textile industry on the other hand. Using concrete examples, Schüle demonstrates how a factory organised by women did not undermine the patriarchal frame in which it was embedded but how existing power differentials were reproduced as part of a discourse of family, security, and subordination.

Applications of Strengths-Based Leadership Theory for the U.S. Army

Science.gov (United States)

2012-09-01

Albert Bandura’s (1994) theory of self-efficacy also helps explain how optimization might take place. According to SBL theory, when individuals invest...improved productivity and satisfaction ( Bandura , 1994). In practice, consistent investment in talents by leaders and subordinates leads to the...References Bandura , A. (1994). Self-efficacy. In V. S. Ramachaudran (Ed.), Encyclopedia of human behavior (pp. 71-81). New York: Academic Press

Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.

KAUST Repository

Doan, Ryan

2012-02-17

BACKGROUND: The catalog of genetic variants in the horse genome originates from a few select animals, the majority originating from the Thoroughbred mare used for the equine genome sequencing project. The purpose of this study was to identify genetic variants, including single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (INDELs), and copy number variants (CNVs) in the genome of an individual Quarter Horse mare sequenced by next-generation sequencing. RESULTS: Using massively parallel paired-end sequencing, we generated 59.6 Gb of DNA sequence from a Quarter Horse mare resulting in an average of 24.7X sequence coverage. Reads were mapped to approximately 97% of the reference Thoroughbred genome. Unmapped reads were de novo assembled resulting in 19.1 Mb of new genomic sequence in the horse. Using a stringent filtering method, we identified 3.1 million SNPs, 193 thousand INDELs, and 282 CNVs. Genetic variants were annotated to determine their impact on gene structure and function. Additionally, we genotyped this Quarter Horse for mutations of known diseases and for variants associated with particular traits. Functional clustering analysis of genetic variants revealed that most of the genetic variation in the horse\\'s genome was enriched in sensory perception, signal transduction, and immunity and defense pathways. CONCLUSIONS: This is the first sequencing of a horse genome by next-generation sequencing and the first genomic sequence of an individual Quarter Horse mare. We have increased the catalog of genetic variants for use in equine genomics by the addition of novel SNPs, INDELs, and CNVs. The genetic variants described here will be a useful resource for future studies of genetic variation regulating performance traits and diseases in equids.

Annotating pathogenic non-coding variants in genic regions.

Science.gov (United States)

Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B

2017-08-09

Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants. TraP accurately distinguishes known pathogenic and benign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public datasets, dismissing benign variants with exceptionally high specificity. TraP analysis of 843 exomes from epilepsy family trios identifies synonymous variants in known epilepsy genes, thus pinpointing risk factors of disease from non-coding sequence data. TraP outperforms leading methods in identifying non-coding variants that are pathogenic and is therefore a valuable tool for use in gene discovery and the interpretation of personal genomes.While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.

Decomposition of Space-Variant Blur in Image Deconvolution

Czech Academy of Sciences Publication Activity Database

Šroubek, Filip; Kamenický, Jan; Lu, Y. M.

2016-01-01

Roč. 23, č. 3 (2016), s. 346-350 ISSN 1070-9908 R&D Projects: GA ČR GA13-29225S; GA MŠk 7H14004 Grant - others:GA AV ČR(CZ) M100751201 Institutional support: RVO:67985556 Keywords : space-variant convolution * singular value decomposition * alternating direction method of multipliers Subject RIV: JD - Computer Applications, Robotics Impact factor: 2.528, year: 2016 http://library.utia.cas.cz/separaty/2016/ZOI/sroubek-0456182.pdf

Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity

Science.gov (United States)

Jahanshad, Neda; Rajagopalan, Priya; Hua, Xue; Hibar, Derrek P.; Nir, Talia M.; Toga, Arthur W.; Jack, Clifford R.; Saykin, Andrew J.; Green, Robert C.; Weiner, Michael W.; Medland, Sarah E.; Montgomery, Grant W.; Hansell, Narelle K.; McMahon, Katie L.; de Zubicaray, Greig I.; Martin, Nicholas G.; Wright, Margaret J.; Thompson, Paul M.; Weiner, Michael; Aisen, Paul; Weiner, Michael; Aisen, Paul; Petersen, Ronald; Jack, Clifford R.; Jagust, William; Trojanowski, John Q.; Toga, Arthur W.; Beckett, Laurel; Green, Robert C.; Saykin, Andrew J.; Morris, John; Liu, Enchi; Green, Robert C.; Montine, Tom; Petersen, Ronald; Aisen, Paul; Gamst, Anthony; Thomas, Ronald G.; Donohue, Michael; Walter, Sarah; Gessert, Devon; Sather, Tamie; Beckett, Laurel; Harvey, Danielle; Gamst, Anthony; Donohue, Michael; Kornak, John; Jack, Clifford R.; Dale, Anders; Bernstein, Matthew; Felmlee, Joel; Fox, Nick; Thompson, Paul; Schuff, Norbert; Alexander, Gene; DeCarli, Charles; Jagust, William; Bandy, Dan; Koeppe, Robert A.; Foster, Norm; Reiman, Eric M.; Chen, Kewei; Mathis, Chet; Morris, John; Cairns, Nigel J.; Taylor-Reinwald, Lisa; Trojanowki, J.Q.; Shaw, Les; Lee, Virginia M.Y.; Korecka, Magdalena; Toga, Arthur W.; Crawford, Karen; Neu, Scott; Saykin, Andrew J.; Foroud, Tatiana M.; Potkin, Steven; Shen, Li; Khachaturian, Zaven; Frank, Richard; Snyder, Peter J.; Molchan, Susan; Kaye, Jeffrey; Quinn, Joseph; Lind, Betty; Dolen, Sara; Schneider, Lon S.; Pawluczyk, Sonia; Spann, Bryan M.; Brewer, James; Vanderswag, Helen; Heidebrink, Judith L.; Lord, Joanne L.; Petersen, Ronald; Johnson, Kris; Doody, Rachelle S.; Villanueva-Meyer, Javier; Chowdhury, Munir; Stern, Yaakov; Honig, Lawrence S.; Bell, Karen L.; Morris, John C.; Ances, Beau; Carroll, Maria; Leon, Sue; Mintun, Mark A.; Schneider, Stacy; Marson, Daniel; Griffith, Randall; Clark, David; Grossman, Hillel; Mitsis, Effie; Romirowsky, Aliza; deToledo-Morrell, Leyla; Shah, Raj C.; Duara, Ranjan; Varon, Daniel; Roberts, Peggy; Albert, Marilyn; Onyike, Chiadi; Kielb, Stephanie; Rusinek, Henry; de Leon, Mony J.; Glodzik, Lidia; De Santi, Susan; Doraiswamy, P. Murali; Petrella, Jeffrey R.; Coleman, R. Edward; Arnold, Steven E.; Karlawish, Jason H.; Wolk, David; Smith, Charles D.; Jicha, Greg; Hardy, Peter; Lopez, Oscar L.; Oakley, MaryAnn; Simpson, Donna M.; Porsteinsson, Anton P.; Goldstein, Bonnie S.; Martin, Kim; Makino, Kelly M.; Ismail, M. Saleem; Brand, Connie; Mulnard, Ruth A.; Thai, Gaby; Mc-Adams-Ortiz, Catherine; Womack, Kyle; Mathews, Dana; Quiceno, Mary; Diaz-Arrastia, Ramon; King, Richard; Weiner, Myron; Martin-Cook, Kristen; DeVous, Michael; Levey, Allan I.; Lah, James J.; Cellar, Janet S.; Burns, Jeffrey M.; Anderson, Heather S.; Swerdlow, Russell H.; Apostolova, Liana; Lu, Po H.; Bartzokis, George; Silverman, Daniel H.S.; Graff-Radford, Neill R.; Parfitt, Francine; Johnson, Heather; Farlow, Martin R.; Hake, Ann Marie; Matthews, Brandy R.; Herring, Scott; van Dyck, Christopher H.; Carson, Richard E.; MacAvoy, Martha G.; Chertkow, Howard; Bergman, Howard; Hosein, Chris; Black, Sandra; Stefanovic, Bojana; Caldwell, Curtis; Hsiung, Ging-Yuek Robin; Feldman, Howard; Mudge, Benita; Assaly, Michele; Kertesz, Andrew; Rogers, John; Trost, Dick; Bernick, Charles; Munic, Donna; Kerwin, Diana; Mesulam, Marek-Marsel; Lipowski, Kristina; Wu, Chuang-Kuo; Johnson, Nancy; Sadowsky, Carl; Martinez, Walter; Villena, Teresa; Turner, Raymond Scott; Johnson, Kathleen; Reynolds, Brigid; Sperling, Reisa A.; Johnson, Keith A.; Marshall, Gad; Frey, Meghan; Yesavage, Jerome; Taylor, Joy L.; Lane, Barton; Rosen, Allyson; Tinklenberg, Jared; Sabbagh, Marwan; Belden, Christine; Jacobson, Sandra; Kowall, Neil; Killiany, Ronald; Budson, Andrew E.; Norbash, Alexander; Johnson, Patricia Lynn; Obisesan, Thomas O.; Wolday, Saba; Bwayo, Salome K.; Lerner, Alan; Hudson, Leon; Ogrocki, Paula; Fletcher, Evan; Carmichael, Owen; Olichney, John; DeCarli, Charles; Kittur, Smita; Borrie, Michael; Lee, T.-Y.; Bartha, Rob; Johnson, Sterling; Asthana, Sanjay; Carlsson, Cynthia M.; Potkin, Steven G.; Preda, Adrian; Nguyen, Dana; Tariot, Pierre; Fleisher, Adam; Reeder, Stephanie; Bates, Vernice; Capote, Horacio; Rainka, Michelle; Scharre, Douglas W.; Kataki, Maria; Zimmerman, Earl A.; Celmins, Dzintra; Brown, Alice D.; Pearlson, Godfrey D.; Blank, Karen; Anderson, Karen; Saykin, Andrew J.; Santulli, Robert B.; Schwartz, Eben S.; Sink, Kaycee M.; Williamson, Jeff D.; Garg, Pradeep; Watkins, Franklin; Ott, Brian R.; Querfurth, Henry; Tremont, Geoffrey; Salloway, Stephen; Malloy, Paul; Correia, Stephen; Rosen, Howard J.; Miller, Bruce L.; Mintzer, Jacobo; Longmire, Crystal Flynn; Spicer, Kenneth; Finger, Elizabeth; Rachinsky, Irina; Rogers, John; Kertesz, Andrew; Drost, Dick

2013-01-01

Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer’s disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, high-angular resolution diffusion MRI. We adapted GWASs to screen the brain’s connectivity pattern, allowing us to discover genetic variants that affect the human brain’s wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer’s disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases. PMID:23471985

Histone variants and lipid metabolism

NARCIS (Netherlands)

Borghesan, Michela; Mazzoccoli, Gianluigi; Sheedfar, Fareeba; Oben, Jude; Pazienza, Valerio; Vinciguerra, Manlio

2014-01-01

Within nucleosomes, canonical histones package the genome, but they can be opportunely replaced with histone variants. The incorporation of histone variants into the nucleosome is a chief cellular strategy to regulate transcription and cellular metabolism. In pathological terms, cellular steatosis

Shear wave elastography diagnosis of the diffuse sclerosing variant of papillary thyroid carcinoma: A case report

OpenAIRE

Xue, Nianyu; Xu, Youfeng; Huang, Pintong; Zhang, Shengmin; Wang, Hongwei; Yu, Fei

2016-01-01

The present study aimed to report the shear wave elastography (SWE) findings in a patient with the diffuse sclerosing variant of papillary thyroid carcinoma (DSVPTC). Since patients with DSVPTC may present with typical clinicopathological features and initially appear to have Hashimoto's thyroiditis, a thorough clinical evaluation and an early diagnosis are important. A 20-year-old female patient presented with a 1-month history of a neck mass and sore throat. Conventional ultrasound and SWE ...

Desmoplastic variant of ameloblastoma of the maxilla: A case report

International Nuclear Information System (INIS)

Koh, Kwang Joon; Park, Ha Na; Kim, Kyoung A

2015-01-01

The desmoplastic variant of ameloblastoma is a rare form of ameloblastoma characterized by unique radiographic and histologic features. A 46-year-old female was referred to our hospital, complaining of swelling in the left upper lip area. Radiographic findings revealed an ill-defined multilocular lesion with a large cystic lesion and thick sclerotic trabeculae on the left anterior maxilla. After the patient underwent partial osteotomy, histologic analysis revealed a desmoplastic ameloblastoma with no evidence of a hybrid lesion or cyst formation. The radiographic findings in the present case were different from those described in previous case reports. These findings are of special importance due to the unfamiliar radiographic and histologic features of this lesion

Rare copy number variants identified in prune belly syndrome.

Science.gov (United States)

Boghossian, Nansi S; Sicko, Robert J; Giannakou, Andreas; Dimopoulos, Aggeliki; Caggana, Michele; Tsai, Michael Y; Yeung, Edwina H; Pankratz, Nathan; Cole, Benjamin R; Romitti, Paul A; Browne, Marilyn L; Fan, Ruzong; Liu, Aiyi; Kay, Denise M; Mills, James L

2018-03-01

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998-2005) were genotyped using Illumina HumanOmni2.5 microarrays. CNVs were prioritized if they were absent from in-house controls, encompassed ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with common variants in population reference controls, and had ≤20% overlap with any variant previously detected in other birth defect phenotypes screened in our laboratory. We identified 17 candidate autosomal CNVs; 10 cases each had one CNV and four cases each had two CNVs. The CNVs included a 158 Kb duplication at 4q22 that overlaps the BMPR1B gene; duplications of different sizes carried by two cases in the intron of STIM1 gene; a 67 Kb duplication 202 Kb downstream of the NOG gene, and a 1.34 Mb deletion including the MYOCD gene. The identified rare CNVs spanned genes involved in mesodermal, muscle, and urinary tract development and differentiation, which might help in elucidating the genetic contribution to PBS. We did not have parental DNA and cannot identify whether these CNVs were de novo or inherited. Further research on these CNVs, particularly BMP signaling is warranted to elucidate the pathogenesis of PBS. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Selling Gender: Associations of Box Art Representation of Female Characters With Sales for Teen- and Mature-rated Video Games

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Near, Christopher E.

2012-01-01

Content analysis of video games has consistently shown that women are portrayed much less frequently than men and in subordinate roles, often in “hypersexualized” ways. However, the relationship between portrayal of female characters and videogame sales has not previously been studied. In order to assess the cultural influence of video games on players, it is important to weight differently those games seen by the majority of players (in the millions), rather than a random sample of all games, many of which are seen by only a few thousand people. Box art adorning the front of video game boxes is a form of advertising seen by most game customers prior to purchase and should therefore predict sales if indeed particular depictions of female and male characters influence sales. Using a sample of 399 box art cases from games with ESRB ratings of Teen or Mature released in the US during the period of 2005 through 2010, this study shows that sales were positively related to sexualization of non-central female characters among cases with women present. In contrast, sales were negatively related to the presence of any central female characters (sexualized or non-sexualized) or the presence of female characters without male characters present. These findings suggest there is an economic motive for the marginalization and sexualization of women in video game box art, and that there is greater audience exposure to these stereotypical depictions than to alternative depictions because of their positive relationship to sales. PMID:23467816

Structure of conkunitzin-S1, a neurotoxin and Kunitz-fold disulfide variant from cone snail

International Nuclear Information System (INIS)

Dy, Catherine Y.; Buczek, Pawel; Imperial, Julita S.; Bulaj, Grzegorz; Horvath, Martin P.

2006-01-01

Most Kunitz proteins like BPTI and α-dendrotoxin are stabilized by three disulfide bonds. The crystal structure shows how subtle repacking of non-covalent interactions may compensate for disulfide bond loss in a naturally occurring two-disulfide variant, conkunitzin-S1, the first discovered member of a new conotoxin family. Cone snails (Conus) are predatory marine mollusks that immobilize prey with venom containing 50–200 neurotoxic polypeptides. Most of these polypeptides are small disulfide-rich conotoxins that can be classified into families according to their respective ion-channel targets and patterns of cysteine–cysteine disulfides. Conkunitzin-S1, a potassium-channel pore-blocking toxin isolated from C. striatus venom, is a member of a newly defined conotoxin family with sequence homology to Kunitz-fold proteins such as α-dendrotoxin and bovine pancreatic trypsin inhibitor (BPTI). While conkunitzin-S1 and α-dendrotoxin are 42% identical in amino-acid sequence, conkunitzin-S1 has only four of the six cysteines normally found in Kunitz proteins. Here, the crystal structure of conkunitzin-S1 is reported. Conkunitzin-S1 adopts the canonical 3 10 –β–β–α Kunitz fold complete with additional distinguishing structural features including two completely buried water molecules. The crystal structure, although completely consistent with previously reported NMR distance restraints, provides a greater degree of precision for atomic coordinates, especially for S atoms and buried solvent molecules. The region normally cross-linked by cysteines II and IV in other Kunitz proteins retains a network of hydrogen bonds and van der Waals interactions comparable to those found in α-dendrotoxin and BPTI. In conkunitzin-S1, glycine occupies the sequence position normally reserved for cysteine II and the special steric properties of glycine allow additional van der Waals contacts with the glutamine residue substituting for cysteine IV. Evolution has thus defrayed the

CLEVER: Clique-Enumerating Variant Finder

NARCIS (Netherlands)

Marschall, T.; Costa, I.; Canzar, S.; bauer, m; Klau, G.W.; Schliep, A.; Schönhuth, A.

2012-01-01

Motivation: Next-generation sequencing techniques have facilitated a large-scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most

“I Stand Out Like a Raven”: Depicting the Female Detective and Tudor History in Nancy Bilyeau’s The Crown

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Beyer Charlotte

2017-06-01

Full Text Available This article examines the portrayal of female identity and crime in the Tudor period in Nancy Bilyeau’s contemporary historical crime fiction novel, The Crown (2012. Featuring a female detective figure, Joanna Stafford, Bilyeau’s novel forms part of the wealth of contemporary fiction using Tudor history as context, reflecting a continued interest in and fascination with this period and its prominent figures. This article examines Bilyeau’s representation of the Tudor period in The Crown through the depiction of English society and culture from a contemporary perspective, employing genre fiction in order to highlight issues of criminality. My investigation of The Crown as crime fiction specifically involves analysing gender-political questions and their portrayal within the novel and its tumultuous historical context. This investigation furthermore explores the depiction of agency, individuality, religion, and politics. The article concludes that Bilyeau’s suspense-filled novel provides an imaginative representation of Tudor history through the prism of the crime fiction genre. Central to this project is its employment of a resourceful and complex female detective figure at the heart of the narrative.

ORGANIZATIONAL COMMUNICATION FROM THE TOP DOWN TO S.C. ARTEGO S.A.

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DORU CÎRNU

2016-06-01

Full Text Available Vertical communication within the organization is twofold: top down and bottom up. The communication from the top down starts from the top management and continuous vertical hierarchy downward until the execution personnel from the base. This type of organizational communication aims to inform, advise, to guide, to train and evaluate subordinates, and to provide all necessary information on the objectives and organizational policies. Often, managers are overly optimistic about the clarity and complete vertical communication. In fact, they are usually managers who frequently recorded failures in the communication of important information or adequate training of subordinates. Starting from previous research more laboriou, among which we mention the GLOBE Study of American Professor Robert House or one conducted in our country (the study Comoros team coordinated by Professor Constantin Rosca, we did a study of smaller scale (at company level the vertical communication and efficiency of communication modalities of this type of managerial act. In this regard, a research performed at S. C. ARTEGO S.A. watched and how communication is done from top to bottom line information and training of personnel. The research, based on a questionnaire, which preserves the anonymity of respondents had interesting results, we stood to attention and present them in what follows. It was surprising to find that certain legal limits for working climat, especially causes of stress are almost unknown, even if some subjects gave positive answers to questions of this nature.

Restoration of retinal images with space-variant blur

Czech Academy of Sciences Publication Activity Database

Marrugo, A.; Millán, M. S.; Šorel, Michal; Šroubek, Filip

2014-01-01

Roč. 19, č. 1 (2014), 016023-1-016023-12 ISSN 1083-3668 R&D Projects: GA ČR GA13-29225S Institutional support: RVO:67985556 Keywords : blind deconvolution * space-variant restoration * retinal image Subject RIV: JD - Computer Applications, Robotics Impact factor: 2.859, year: 2014 http://library.utia.cas.cz/separaty/2014/ZOI/sorel-0424586.pdf

The downside of goal-focused leadership: the role of personality in subordinate exhaustion.

Science.gov (United States)

Perry, Sara Jansen; Witt, L A; Penney, Lisa M; Atwater, Leanne

2010-11-01

Exhaustion has a significant impact on employees and organizations, and leader behavior may affect it. We applied conservation of resources theory to test propositions regarding the joint effects of goal-focused leadership (GFL) and personality on employee exhaustion. We proposed that the relationship between GFL and exhaustion depends on employees' standing on both conscientiousness and emotional stability. Specifically, we expected that high-conscientiousness subordinates experience greater compatibility with a goal-focused leader because of their predisposition to direct resources toward achievement and goal setting, resulting in lower exhaustion under such a leader than among low-conscientiousness employees. Furthermore, high emotional stability may compensate for GFL incompatibility among low-conscientiousness employees by providing additional resources to manage GFL. In contrast, employees low on both traits likely experience greater exhaustion under a goal-focused leader compared with other employees. Results revealed a 3-way interaction in 2 independent samples and were generally supportive of our predictions. GFL was associated with heightened exhaustion among individuals in the low-emotional-stability, low-conscientiousness group but not among workers having any other trait combination. (c) 2010 APA, all rights reserved.

Internalization of U.S. female beauty standards as a mediator of the relationship between Mexican American women's acculturation and body dissatisfaction.

Science.gov (United States)

Poloskov, Elizabeth; Tracey, Terence J G

2013-09-01

The relationships among acculturation, internalization of U.S. sociocultural standards of female beauty, and body dissatisfaction were examined in a sample of 211 Mexican American college women. Structural equation modeling was used to identify the paths among these three factors. Results demonstrated that there are two distinct types of body dissatisfaction: global evaluations and composite site-specific evaluations. The relationships between acculturation toward dominant U.S. culture and both types of body dissatisfaction were found to be fully mediated by internalization of U.S. standards of female beauty. There were no relationships between Mexican orientation and any of the study variables. The results from this study imply that it is important for therapists working with Mexican American female clients to assess the client's level of acculturation, examine the cultural (U.S. and Mexican) messages the client receives, and explore how these messages impact her body image. Copyright © 2013. Published by Elsevier Ltd.

MSX1 gene variant - its presence in tooth absence - a case control genetic study.

Science.gov (United States)

Reddy, Naveen Admala; Adusumilli, Gopinath; Devanna, Raghu; Pichai, Saravanan; Rohra, Mayur Gobindram; Arjunan, Sharmila

2013-10-01

Non Syndromic tooth agenesis is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study was to test whether MSX1 671 T>C gene variant was involved in etiology of Non Syndromic tooth agenesis in Raichur Patients. Blood samples were collected with informed consent from 50 subjects having Non Syndromic tooth agenesis and 50 controls. Genomic DNA was extracted from the blood samples, Polymerase Chain Reaction was performed (PCR) and Restriction Fragment Length Polymorphism (RFLP) was performed for digestion products that were evaluated. The RESULTS showed positive correlation between MSX1671 T>C gene variant and Non Syndromic tooth agenesis in Raichur Patients. MSX1 671 T>C gene variant may be a good screening marker for Non Syndromic tooth agenesis in Raichur Patients . How to cite this article:Reddy NA, Adusumilli G, Devanna R, Pichai S, Rohra MG, Arjunan S. Msx1 Gene Variant - Its Presence in Tooth Absence - A Case Control Genetic Study. J Int Oral Health 2013; 5(5):20-6.

The curation of genetic variants: difficulties and possible solutions.

Science.gov (United States)

Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

2012-12-01

The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

Word Variant Identification in Old French

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Peter Willett

1997-01-01

Full Text Available Increasing numbers of historical texts are available in machine-readable form, which retain the original spelling, which can be very different from the modern-day equivalents due to the natural evolution of a language, and because the concept of standardisation in spelling is comparatively modern. Among medieval vernacular writers, the same word could be spelled in different ways and the same author (or scribe might even use several alternative spellings in the same passage. Thus, we do not know,a priori, how many variant forms of a particular word there are in such texts, let alone what these variants might be. Searching on the modern equivalent, or even the commonest historical variant, of a particular word may thus fail to retrieve an appreciable number of occurrences unless the searcher already has an extensive knowledge of the language of the documents. Moreover, even specialist scholars may be unaware of some idiosyncratic variants. Here, we consider the use of computer methods to retrieve variant historical spellings.

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

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Dennis Löffler

2017-03-01

Full Text Available Objective: Variants in Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1 may be causative for obesity as suggested by monogenic cases and association studies. Here we assessed the functional relevance in experimental studies and the clinical relevance through detailed metabolic phenotyping of newly identified and known PCSK1 variants in children. Results: In 52 obese children selected for elevated proinsulin levels and/or impaired glucose tolerance, we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C by sequencing the PCSK1 gene. Patients with the new variants presented with extreme obesity, impaired glucose tolerance, and PCOS. Functionally, c.1095 + 1G > A caused skipping of exon8 translation and a complete loss of enzymatic activity. The protein was retained within the endoplasmic reticulum (ER causing ER stress. The p.S24C variant had no functional effect on protein size, cell trafficking, or enzymatic activity. The known variants rs6230, rs35753085, and rs725522 in the 5′ end did not affect PCSK1 promoter activity.In clinical association studies in 1673 lean and obese children, we confirmed associations of rs6232 and rs6234 with BMI-SDS and of rs725522 with glucose stimulated insulin secretion and Matsuda index. We did not find the new variants in any other subjects. Conclusions: We identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function. In addition to confirming rs6232 and rs6234 in PCSK1 as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism. Our results support the contribution of PCSK1 variants to obesity predisposition in children. Keywords: PCSK1, PC1/3, Obesity, Children, Prohormone convertase 1/3

TREM2 Variants in Alzheimer's Disease

Science.gov (United States)

Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K.; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John

2013-01-01

BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P = 0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P = 0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.) PMID:23150934

Algebraic Thinking in Solving Linier Program at High School Level: Female Student’s Field Independent Cognitive Style

Science.gov (United States)

Hardiani, N.; Budayasa, I. K.; Juniati, D.

2018-01-01

The aim of this study was to describe algebraic thinking of high school female student’s field independent cognitive style in solving linier program problem by revealing deeply the female students’ responses. Subjects in this study were 7 female students having field independent cognitive style in class 11. The type of this research was descriptive qualitative. The method of data collection used was observation, documentation, and interview. Data analysis technique was by reduction, presentation, and conclusion. The results of this study showed that the female students with field independent cognitive style in solving the linier program problem had the ability to represent algebraic ideas from the narrative question that had been read by manipulating symbols and variables presented in tabular form, creating and building mathematical models in two variables linear inequality system which represented algebraic ideas, and interpreting the solutions as variables obtained from the point of intersection in the solution area to obtain maximum benefit.

A new splice variant of the major subunit of human asialoglycoprotein receptor encodes a secreted form in hepatocytes.

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Jia Liu

Full Text Available BACKGROUND: The human asialoglycoprotein receptor (ASGPR is composed of two polypeptides, designated H1 and H2. While variants of H2 have been known for decades, the existence of H1 variants has never been reported. PRINCIPAL FINDINGS: We identified two splice variants of ASGPR H1 transcripts, designated H1a and H1b, in human liver tissues and hepatoma cells. Molecular cloning of ASGPR H1 variants revealed that they differ by a 117 nucleotide segment corresponding to exon 2 in the ASGPR genomic sequence. Thus, ASGPR variant H1b transcript encodes a protein lacking the transmembrane domain. Using an H1b-specific antibody, H1b protein and a functional soluble ASGPR (sASGPR composed of H1b and H2 in human sera and in hepatoma cell culture supernatant were identified. The expression of ASGPR H1a and H1b in Hela cells demonstrated the different cellular loctions of H1a and H1b proteins at cellular membranes and in intracellular compartments, respectively. In vitro binding assays using fluorescence-labeled sASGPR or the substract ASOR revealed that the presence of sASGPR reduced the binding of ASOR to cells. However, ASOR itself was able to enhance the binding of sASGPR to cells expressing membrane-bound ASGPR. Further, H1b expression is reduced in liver tissues from patients with viral hepatitis. CONCLUSIONS: We conclude that two naturally occurring ASGPR H1 splice variants are produced in human hepatocytes. A hetero-oligomeric complex sASGPR consists of the secreted form of H1 and H2 and may bind to free substrates in circulation and carry them to liver tissue for uptake by ASGPR-expressing hepatocytes.

A Panel of Cytochrome P450 BM3 Variants To Produce Drug Metabolites and Diversify Lead Compounds

Science.gov (United States)

Sawayama, Andrew M.; Chen, Michael M. Y.; Kulanthaivel, Palaniappan; Kuo, Ming-Shang; Hemmerle, Horst; Arnold, Frances H.

2011-01-01

Here we demonstrate that a small panel of variants of cytochrome P450 BM3 from Bacillus megaterium covers the breadth of reactivity of human P450s by producing 12 of 13 mammalian metabolites for two marketed drugs, verapamil and astemizole, and one research compound. The most active enzymes support preparation of individual metabolites for preclinical bioactivity and toxicology evaluations. Underscoring their potential utility in drug lead diversification, engineered P450 BM3 variants also produce novel metabolites by catalyzing reactions at carbon centers beyond those targeted by animal and human P450s. Production of a specific metabolite can be improved by directed evolution of the enzyme catalyst. Some variants are more active on the more hydrophobic parent drug than on its metabolites, which limits production of multiply-hydroxylated species, a preference that appears to depend on the evolutionary history of the P450 variant. PMID:19774562

Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.

Science.gov (United States)

Bertolino, Alessandro; Fazio, Leonardo; Caforio, Grazia; Blasi, Giuseppe; Rampino, Antonio; Romano, Raffaella; Di Giorgio, Annabella; Taurisano, Paolo; Papp, Audrey; Pinsonneault, Julia; Wang, Danxin; Nardini, Marcello; Popolizio, Teresa; Sadee, Wolfgang

2009-02-01

Dopamine D2 receptor signalling is strongly implicated in the aetiology of schizophrenia. We have recently characterized the function of three DRD2 SNPs: rs12364283 in the promoter affecting total D2 mRNA expression; rs2283265 and rs1076560, respectively in introns 5 and 6, shifting mRNA splicing to two functionally distinct isoforms, the short form of D2 (D2S) and the long form (D2L). These two isoforms differentially contribute to dopamine signalling in prefrontal cortex and in striatum. We performed a case-control study to determine association of these variants and of their main haplotypes with several schizophrenia-related phenotypes. We demonstrate that the minor allele in the intronic variants is associated with reduced expression of %D2S of total mRNA in post-mortem prefrontal cortex, and with impaired working memory behavioural performance, both in patients and controls. However, the fMRI results show opposite effects in patients compared with controls: enhanced engagement of prefronto-striatal pathways in controls and reduced activity in patients. Moreover, the promoter variant is also associated with working memory activity in prefrontal cortex and striatum of patients, and less robustly with negative symptoms scores. Main haplotypes formed by the three DRD2 variants showed significant associations with these phenotypes consistent with those of the individual SNPs. Our results indicate that the three functional DRD2 variants modulate schizophrenia phenotypes possibly by modifying D2S/D2L ratios in the context of different total D2 density.

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing.

Science.gov (United States)

Shim, Ye Jee; Kim, Jung Eun; Hwang, Su-Kyeong; Choi, Bong Seok; Choi, Byung Ho; Cho, Eun-Mi; Jang, Kyoung Mi; Ko, Cheol Woo

2015-01-01

To date, 13 genes causing maturity-onset diabetes of the young (MODY) have been identified. However, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. Thus, we conducted whole-exome sequencing in Korean MODY families to identify causative gene variants. Six MODY probands and their family members were included. Variants in the dbSNP135 and TIARA databases for Koreans and the variants with minor allele frequencies >0.5% of the 1000 Genomes database were excluded. We selected only the functional variants (gain of stop codon, frameshifts and nonsynonymous single-nucleotide variants) and conducted a case-control comparison in the family members. The selected variants were scanned for the previously introduced gene set implicated in glucose metabolism. Three variants c.620C>T:p.Thr207Ile in PTPRD, c.559C>G:p.Gln187Glu in SYT9, and c.1526T>G:p.Val509Gly in WFS1 were respectively identified in 3 families. We could not find any disease-causative alleles of known MODY 1-13 genes. Based on the predictive program, Thr207Ile in PTPRD was considered pathogenic. Whole-exome sequencing is a valuable method for the genetic diagnosis of MODY. Further evaluation is necessary about the role of PTPRD, SYT9 and WFS1 in normal insulin release from pancreatic beta cells. © 2015 S. Karger AG, Basel.

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

Science.gov (United States)

Kanetsky, Peter A; Ge, Fan; Najarian, Derek; Swoyer, Jennifer; Panossian, Saarene; Schuchter, Lynn; Holmes, Robin; Guerry, DuPont; Rebbeck, Timothy R

2004-05-01

The melanocortin-1 receptor gene (MC1R) encodes a membrane-bound receptor protein that is central to melanin synthesis. The coding region of MC1R is highly polymorphic and associations of variants with pigmentation phenotypes and risk for cutaneous neoplasms have been reported. We sought to determine the distribution and frequency of MC1R variants and their relationship to pigmentation characteristics in 179 Caucasian controls from the United States. One hundred thirty-five (75.4%) subjects carried one or more variants, and we determined that carriage of the previously designated "red hair color" (RHC) alleles, R151C, R160W, and D294H was strongly associated with fair pigmentation phenotypes including light hair and eye color, tendency to burn, decreased tendency to tan, and freckling. We used SIFT software to define MC1R protein positions that were predicted intolerant to amino acid substitutions; detected variants that corresponded to intolerant substitutions were D84E, R142H, R151C, I155T, R160W, and D294H. Carriage of one or more of these putative functionally important variants or the frameshift variant ins86A was significantly associated with fair pigmentation phenotypes. Analyses limited to carriage of ins86A and the three non-RHC alleles identified by SIFT were attenuated and no longer reached statistical significance. This is the first study to describe MC1R variants among control subjects from the U.S. Our results indicate that the frequency of variants is similar to that previously observed among non-U.S. Caucasians. Risk variants defined by either the published literature or by evolutionary criteria are strongly and significantly associated with all fair pigmentation phenotypes that were measured.

Karl Barth's male-female order: A kingpin of dogmatic disparity ...

African Journals Online (AJOL)

theoethics” or “creational theology”. This perspective perpetuates an asymmetry in gender relations that was prevalent in Biblical times, throughout Christianity and to some extent still is visible today. He based his view on the subordination of ...

Frequency of the Hemochromatosis Gene (HFE Variants in a Jordanian Arab Population and in Diabetics from the Same Region

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Asem Alkhateeb

2009-01-01

Full Text Available Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. In this study we performed mutation analysis to identify allele frequency of the three variants of HFE gene in Jordanian Arab population, to assess deviations of these frequencies from those detected elsewhere, and to determine if there is an increased frequency of these variants in a diabetic population (Type 2 diabetes from the same area. DNA was extracted from blood samples of 440 individuals attending King Abdullah University Hospital for ambulatory services. We used polymerase chain reaction (PCR to amplify exons 2 and 4 of the HFE gene then restriction fragment length polymorphism (RFLP method to detect the variants. There were neither homozygous nor heterozygous for C282Y variant. For the H63D variant, 0.68% were homozygous and 21.1% were heterozygous. For the S65C variant, there were no homozygous and 0.23% were heterozygous. Allelic frequencies were, 0%, 11.25%, and 0.11% for C282Y, H63D, and S65C, respectively. Our samples were subdivided into two categories of type 2 diabetic (89 cases and controls (blood donors, 204 cases and compared with regard to the H63D variant. Both groups did not have homozygous H63D variant. H63D heterozygous in diabetics were 23.60% and in blood donor controls 22.55%. Allelic frequency of the mutant H63D allele was 11.80% in diabetics and 11.27% for the blood donor controls. This is the first study to show the frequency of the three hemochromatosis gene variants in Jordan with the interesting

A dominant-negative mutant inhibits multiple prion variants through a common mechanism.

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Fen Pei

2017-10-01

Full Text Available Prions adopt alternative, self-replicating protein conformations and thereby determine novel phenotypes that are often irreversible. Nevertheless, dominant-negative prion mutants can revert phenotypes associated with some conformations. These observations suggest that, while intervention is possible, distinct inhibitors must be developed to overcome the conformational plasticity of prions. To understand the basis of this specificity, we determined the impact of the G58D mutant of the Sup35 prion on three of its conformational variants, which form amyloids in S. cerevisiae. G58D had been previously proposed to have unique effects on these variants, but our studies suggest a common mechanism. All variants, including those reported to be resistant, are inhibited by G58D but at distinct doses. G58D lowers the kinetic stability of the associated amyloid, enhancing its fragmentation by molecular chaperones, promoting Sup35 resolubilization, and leading to amyloid clearance particularly in daughter cells. Reducing the availability or activity of the chaperone Hsp104, even transiently, reverses curing. Thus, the specificity of inhibition is determined by the sensitivity of variants to the mutant dosage rather than mode of action, challenging the view that a unique inhibitor must be developed to combat each variant.

Nasty Women: The Politics of Female Identity in Antonio Ortuño’s La fila india

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Adrienne Erazo

2018-02-01

Full Text Available Provoked by the outbreak of femicides in Ciudad Juárez in the 1990s, a wave of socially critical narrative has circulated in Mexico since the turn of the twenty-first century. Taking into account this broader corpus of literature, the article contextualizes Antonio Ortuño’s 2014 novel La fila india within a unique sector of this critical narrative, which highlights the interaction of gender violence and migration. The violent novel exposes an expansive social hierarchy that has developed in response to migration in Mexico, and which discriminates against all women, but targets migrant women in particular. Ortuño steps away from traditional characterizations of the Third World female migrant as a helpless victim, and instead orients his narrative around this figure’s means of achieving agency in the face of intense discrimination and violence. The article demonstrates how Ortuño interweaves systemic, symbolic, and subjective violence and subverts the chingón-chingada relationship in order to offer a pessimistic, but revolutionary view of both Mexican and Central American women’s future in Mexico. By tracing narrative strategies that normalize violence and uncovering Ortuño’s connection of gender and ethnic discrimination, the author invites us to reconsider both the genre of social criticism in Mexico and the politics of female identity in the face of violence.

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Science.gov (United States)

Pisciotta, Livia; Fresa, Raffaele; Bellocchio, Antonella; Guido, Virgilia; Priore Oliva, Claudio; Calandra, Sebastiano; Bertolini, Stefano

2011-11-20

Common variants of APOA5 gene affect plasma triglyceride (TG) in the population and a number of rare variants APOA5 have been reported in individuals with hypertriglyceridemia (HTG). APOA5 was analysed in 98 HTG individuals (plasma TG >9 mmol/L) in whom no mutations in LPL and APOC2 had been found. Two patients were found to be heterozygous for two novel APOA5 variants. The first variant (p.L253P) was identified in an obese male who consumed a diet rich in fat and simple sugars. He was also a carrier in trans of the common TG-raising p.S19W SNP (5*3 haplotype). The second variant (c.295-297 del GAG, p.E99 del) was found in a lean male with no life style or metabolic factors known to affect plasma TG. He was a carrier in trans of the TG-raising 5*2 haplotype and was homozygous for the rare c.1337T allele of a SNP of GCKR gene. No mutations in other genes affecting plasma TG (LMF1 and GPIHBP1) were found in these patients. These APOA5 variants, resulted to be deleterious in silico, were not found in 350 control subjects. These novel APOA5 variants predispose to HTG in combination with other genetic or nutritional factors. Copyright © 2011 Elsevier B.V. All rights reserved.

Variant facial artery in the submandibular region.

Science.gov (United States)

Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

2012-07-01

Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

Radio-ligand immunoassay for human hemoglobin variants

International Nuclear Information System (INIS)

Javid, J.; Pettis, P.K.; Miller, J.E.

1981-01-01

A quantitative method is described for the individual assay of human hemoglobin variants occurring singly or in mixture. The hemoglobin to be assayed is bound to specific antibody; the immune complex is attached to protein A-containing S. aureus and removed from the mixture. The hemoglobin thus isolated is quantified by its ability to bind radiolabeled haptoglobin. The technique is accurate and distinguishes among the 4 hemoglobins tested, namely Hb A, S, C and F. It has the advantage over conventional radioimmunoassay that a single probe, radiolabeled haptoglobin, is needed for the specific assay of any hemoglobin. (Auth.)

Research on spatial-variant property of bistatic ISAR imaging plane of space target

International Nuclear Information System (INIS)

Guo Bao-Feng; Wang Jun-Ling; Gao Mei-Guo

2015-01-01

The imaging plane of inverse synthetic aperture radar (ISAR) is the projection plane of the target. When taking an image using the range-Doppler theory, the imaging plane may have a spatial-variant property, which causes the change of scatter’s projection position and results in migration through resolution cells. In this study, we focus on the spatial-variant property of the imaging plane of a three-axis-stabilized space target. The innovative contributions are as follows. 1) The target motion model in orbit is provided based on a two-body model. 2) The instantaneous imaging plane is determined by the method of vector analysis. 3) Three Euler angles are introduced to describe the spatial-variant property of the imaging plane, and the image quality is analyzed. The simulation results confirm the analysis of the spatial-variant property. The research in this study is significant for the selection of the imaging segment, and provides the evidence for the following data processing and compensation algorithm. (paper)

Peculiarities of adaptation reactions in female migrants and health disorders risks occuring after different periods of staying on Moscow region territory

OpenAIRE

N.F. Izmerov; N.I. Izmerova; I.V. Bukhtiyarov; M. Khodzhiev

2017-01-01

The article gives the results of determining peculiarities which are characteristic for adaptation in female migrants de-pending on a period of their staying in Moscow region. Adaptation was assessed as per variants of functional stress status and functional abilities of circulatory system. We detected that female migrants during their adaptation to impacts exerted by neuro-emotional factors, social-psychological factors, and physical (muscular) loads which varied in their intensity and lengt...

The Prevalence and Role of Hemoglobin Variants in Biometric Screening of a Multiethnic Population: One Large Health System's Experience.

Science.gov (United States)

Wilburn, Clayton R; Bernard, David W; Zieske, Arthur W; Andrieni, Julia; Miller, Tara; Wang, Ping

2017-06-01

To characterize and quantitate hemoglobin (Hb) variants discovered during biometric hemoglobin A1c (HbA1c) analyses in a large multiethnic population with a focus on the effect of variants on testing method and results. In total, 13,913 individuals had their HbA1c measured via ion-exchange high-performance liquid chromatography. Samples that had a variant Hb detected or HbF fraction more than 25% underwent variant Hb characterization and confirmation by gel electrophoresis. RBC indices were also evaluated for possible concomitant thalassemia. Of the 13,913 individuals evaluated, 524 (3.77%) had an Hb variant. The prevalence of each variant was as follows: HbS trait (n = 396, 2.85%), HbSS disease (n = 4, 0.03%), HbC trait (n = 85, 0.61%), HbCC disease (n = 2, 0.01%), HbSC disease (n = 5, 0.04%), HbE trait (n = 18, 0.13%), HbD or G trait (n = 9, 0.06%), HbS β-thalassemia + disease (n = 1, 0.01%), hereditary persistence of HbF (n = 2, 0.01%), and HbMontgomery trait (n = 1, 0.01%). Concomitant α-thalassemia was detected in 20 (3.82%) of the 524 individuals with an Hb variant. This study represents one of the largest epidemiologic investigations into the prevalence of Hb variants in a North American metropolitan, multiethnic workforce and their dependents and reinforces the importance of method selection in populations with Hb variants. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Extra skeletal Soft Tissue Ewing?s Sarcoma with Variant Translocation of Chromosome t (4; 22) (q35; q12)-A Case Report

OpenAIRE

Nagaraj, Prashanth; H, Srinivas C; Rao, Raghavendra; Manohar, Sandesh

2013-01-01

Introduction: Ewing’s sarcomas is a rare primitive neuroectodermal tumour (PNET) which has an annual incidence of 2.9 /million population in USA 1Jeffery Toretsky et al (2008) They are very uncommon in African and Asian population .lt is commonly associated with reciprocal translocation between chromosome 11 and 12 t (11:12) or less frequently the t(21 ;22)(q22;ql 2) translocation. It is highly aggressive tumor which is PAS- and CD99 (MIC2)-positive relatively few variant translocations have ...

Fronto-striatal atrophy in behavioural variant frontotemporal dementia & Alzheimer’s disease

Directory of Open Access Journals (Sweden)

Maxime eBertoux

2015-07-01

Full Text Available Behavioural variant frontotemporal dementia (bvFTD has only recently been associated with significant striatal atrophy, whereas the striatum appears to be relatively preserved in Alzheimer’s disease (AD. Considering the critical role the striatum has in cognition and behaviour, striatal degeneration, together with frontal atrophy, could be responsible of some characteristic symptoms in bvFTD and emerges therefore as promising novel diagnostic biomarker to distinguish bvFTD and AD. Previous studies have, however, only taken either cortical or striatal atrophy into account when comparing the two diseases. In this study, we establish for the first time a profile of fronto-striatal atrophy in 23 bvFTD and 29 AD patients at presentation, based on the structural connectivity of striatal and cortical regions. Patients are compared to 50 healthy controls by using a novel probabilistic connectivity atlas, which defines striatal regions by their cortical white matter connectivity, allowing us to explore the degeneration of the frontal and striatal regions that are functionally linked. Comparisons with controls revealed that bvFTD showed substantial fronto-striatal atrophy affecting the ventral as well as anterior and posterior dorso-lateral prefrontal cortices and the related striatal subregions. By contrast, AD showed few fronto-striatal atrophy, despite having significant posterior dorso-lateral prefrontal degeneration. Direct comparison between bvFTD and AD revealed significantly more atrophy in the ventral striatal-ventromedial prefrontal cortex regions in bvFTD. Consequently, deficits in ventral fronto-striatal regions emerge as promising novel and efficient diagnosis biomarker for bvFTD. Future investigations into the contributions of these fronto-striatal loops on bvFTD symptomology are needed to develop simple diagnostic and disease tracking algorithms.

Crystal structures of the all-cysteinyl-coordinated D14C variant of Pyrococcus furiosus ferredoxin: [4Fe–4S] ↔ [3Fe–4S] cluster conversion

DEFF Research Database (Denmark)

Løvgreen, Monika Nøhr; Martic, Maja; Windahl, Michael S.

2011-01-01

The structure of the all-cysteinyl-coordinated D14C variant of [4Fe–4S] ferredoxin from the hyperthermophilic archaeon Pyrococcus furiosus has been determined to 1.7 Å resolution from a crystal belonging to space group C2221 with two types of molecules, A and B, in the asymmetric unit. A and B...... molecules have different crystal packing and intramolecular disulfide bond conformation. The crystal packing reveals a β-sheet interaction between A molecules in adjacent asymmetric units, whereas B molecules are packed as monomers in a less rigid position next to the A–A extended β-sheet dimers...... and purification are carried out at pH 5.8, only the monomer is obtained. The crystal structure of D14C [3Fe–4S] P. furiosus ferredoxin monomer was determined to 2.8 Å resolution from a crystal belonging to space group P212121 with two molecules in the asymmetric unit. The molecules resemble molecule A of D14C [4...

Identification and expression profiles of sRNAs and their biogenesis and action-related genes in male and female cones of Pinus tabuliformis.

Science.gov (United States)

Niu, Shi-Hui; Liu, Chang; Yuan, Hu-Wei; Li, Pei; Li, Yue; Li, Wei

2015-09-15

Small RNA (sRNA) play pivotal roles in reproductive development, and their biogenesis and action mechanisms are well characterised in angiosperm plants; however, corresponding studies in conifers are very limited. To improve our understanding of the roles of sRNA pathways in the reproductive development of conifers, the genes associated with sRNA biogenesis and action pathways were identified and analysed, and sRNA sequencing and parallel analysis of RNA ends (PARE) were performed in male and female cones of the Chinese pine (Pinus tabuliformis). Based on high-quality reference transcriptomic sequences, 21 high-confidence homologues involved in sRNA biogenesis and action in P. tabuliformis were identified, including two different DCL3 genes and one AGO4 gene. More than 75 % of genes involved in sRNA biogenesis and action have higher expression levels in female than in male cones. Twenty-six microRNA (miRNA) families and 74 targets, including 46 24-nt sRNAs with a 5' A, which are specifically expressed in male cones or female cones and probably bind to AGO4, were identified. The sRNA pathways have higher activity in female than in male cones, and the miRNA pathways are the main sRNA pathways in P. tabuliformis. The low level of 24-nt short-interfering RNAs in conifers is not caused by the absence of biogenesis-related genes or AGO-binding proteins, but most likely caused by the low accumulation of these key components. The identification of sRNAs and their targets, as well as genes associated with sRNA biogenesis and action, will provide a good starting point for investigations into the roles of sRNA pathways in cone development in conifers.

A Low Density Microarray Method for the Identification of Human Papillomavirus Type 18 Variants

Science.gov (United States)

Meza-Menchaca, Thuluz; Williams, John; Rodríguez-Estrada, Rocío B.; García-Bravo, Aracely; Ramos-Ligonio, Ángel; López-Monteon, Aracely; Zepeda, Rossana C.

2013-01-01

We describe a novel microarray based-method for the screening of oncogenic human papillomavirus 18 (HPV-18) molecular variants. Due to the fact that sequencing methodology may underestimate samples containing more than one variant we designed a specific and sensitive stacking DNA hybridization assay. This technology can be used to discriminate between three possible phylogenetic branches of HPV-18. Probes were attached covalently on glass slides and hybridized with single-stranded DNA targets. Prior to hybridization with the probes, the target strands were pre-annealed with the three auxiliary contiguous oligonucleotides flanking the target sequences. Screening HPV-18 positive cell lines and cervical samples were used to evaluate the performance of this HPV DNA microarray. Our results demonstrate that the HPV-18's variants hybridized specifically to probes, with no detection of unspecific signals. Specific probes successfully reveal detectable point mutations in these variants. The present DNA oligoarray system can be used as a reliable, sensitive and specific method for HPV-18 variant screening. Furthermore, this simple assay allows the use of inexpensive equipment, making it accessible in resource-poor settings. PMID:24077317

Anatomic variants of the pancreatic duct and their clinical relevance: an MR-guided study in the general population

International Nuclear Information System (INIS)

Buelow, Robin; Thiel, Robert; Thamm, Patrick; Messner, Philip; Hosten, Norbert; Kuehn, Jens-Peter; Simon, Peter; Lerch, Markus M.; Mayerle, Julia; Voelzke, Henry

2014-01-01

To investigate the frequency of pancreatic duct (PD) variants and their effect on pancreatic exocrine function in a population-based study using non-invasive secretin-stimulated magnetic resonance cholangiopancreatography (sMRCP). Nine hundred and ninety-five volunteers, 457 women and 538 men, aged 51.9 ± 13.4 years, underwent navigator-triggered, T2-weighted, 3D turbo spin echo MRCP on a 1.5 T system after 1 unit/kg secretin administration. Two readers evaluated images for PD variants. Pancreatic exocrine function and morphological signs of chronic pancreatitis such as abnormalities of the main PD, side branch dilatation, and pancreatic cysts were evaluated and related to PD variants using a Kruskal-Wallis test and post hoc analysis. Of all sMRCP, 93.2 % were of diagnostic quality. Interobserver reliability for detection of PD variants was found to be kappa 0.752 (95 %CI, 0.733 - 0.771). Normal PD variants were observed in 90.4 % (n = 838/927). Variants of pancreas divisum was identified in 9.6 % (n = 89/927). Abnormalities of the main PD, side branch dilatation, and pancreatic cysts were observed in 2.4 %, 16.6 %, and 27.7 %, respectively, and were not significantly different between pancreas divisum and non-divisum group (P = 0.122; P = 0.152; P = 0.741). There was no association between PD variants and pancreatic exocrine function (P = 0.367). PD variants including pancreas divisum are not associated with morphological signs of chronic pancreatitis or restriction of pancreatic exocrine function. (orig.)

Anatomic variants of the pancreatic duct and their clinical relevance: an MR-guided study in the general population

Energy Technology Data Exchange (ETDEWEB)

Buelow, Robin; Thiel, Robert; Thamm, Patrick; Messner, Philip; Hosten, Norbert; Kuehn, Jens-Peter [University Medicine, Ernst Moritz Arndt University Greifswald, Department of Radiology and Neuroradiology, Greifswald (Germany); Simon, Peter; Lerch, Markus M.; Mayerle, Julia [University Medicine, Ernst Moritz Arndt University Greifswald, Division of Gastroenterology and Department of Medicine A, Greifswald (Germany); Voelzke, Henry [University Medicine, Ernst Moritz Arndt University Greifswald, Institute for Community Medicine, Greifswald (Germany)

2014-12-15

To investigate the frequency of pancreatic duct (PD) variants and their effect on pancreatic exocrine function in a population-based study using non-invasive secretin-stimulated magnetic resonance cholangiopancreatography (sMRCP). Nine hundred and ninety-five volunteers, 457 women and 538 men, aged 51.9 ± 13.4 years, underwent navigator-triggered, T2-weighted, 3D turbo spin echo MRCP on a 1.5 T system after 1 unit/kg secretin administration. Two readers evaluated images for PD variants. Pancreatic exocrine function and morphological signs of chronic pancreatitis such as abnormalities of the main PD, side branch dilatation, and pancreatic cysts were evaluated and related to PD variants using a Kruskal-Wallis test and post hoc analysis. Of all sMRCP, 93.2 % were of diagnostic quality. Interobserver reliability for detection of PD variants was found to be kappa 0.752 (95 %CI, 0.733 - 0.771). Normal PD variants were observed in 90.4 % (n = 838/927). Variants of pancreas divisum was identified in 9.6 % (n = 89/927). Abnormalities of the main PD, side branch dilatation, and pancreatic cysts were observed in 2.4 %, 16.6 %, and 27.7 %, respectively, and were not significantly different between pancreas divisum and non-divisum group (P = 0.122; P = 0.152; P = 0.741). There was no association between PD variants and pancreatic exocrine function (P = 0.367). PD variants including pancreas divisum are not associated with morphological signs of chronic pancreatitis or restriction of pancreatic exocrine function. (orig.)

AIDS and the status of women. Challenges and perspectives for the 1990s.

Science.gov (United States)

1990-10-01

WHO and the Swedish Government hosted the expert group meeting on women and HIV/AIDS in Vienna, August in 1990. Attendees concentrated their discussions on government recognized entities (national machinery) responsible for women's advancement and how they can assist in forming national policies to better women's status and limit the effect of HIV/AIDS. A very important issue came out of this meeting that had not yet been addressed in AIDS prevention strategies--the fundamental problem of women's subordination as a component of the HIV/AIDS epidemic. In addition, even though national groups for women's advancement have worked hard to rectify subordination, they have not yet addressed AIDS as a barrier to equality. Subordination of women varies from country to country, nevertheless they are all vulnerable to HIV/AIDS worldwide. They do not have equal access to education, information, and health services. They cannot demand that sexual partners practice safe sex. Despite being ill, they are expected to continue caring for their families. The national machinery must be able to assemble needed resources and assure implementation of these policies. It should encourage government policies to improve maternal and child health and family planning services, to control sexually transmitted diseases, and to provide adequate counseling and research. National AIDS committees and national machinery should communicate and form linkages to advance the status of women. Preventing the spread of HIV/AIDS cannot occur, however, if men and women do not cooperate. WHO estimated that at least 500,000 women and children acquired AIDS in the 1980s. It expects an additional 3 million in the 1990s. In the early 1990s, 8-10 million people are infected with HIV.

Feminist theory and its influence on female entrepreneur’s growth intentions

Directory of Open Access Journals (Sweden)

Rabi Sidi Ali

2016-10-01

Full Text Available Existing results suggest that entrepreneurs vary considerably in their intentions to grow their businesses; that men have more success in pursing growth than women. Prior investigations on entrepreneurship also suggest female business owners might deliberately choose to keep their business from growing. However, these studies have been conducted in developed countries. Diversity in context and theories could vary by gender, business sectors and regions of the world. Scholars maintain that feminist perspectives theories are necessary to provide some insights in understanding the phenomena. The goal of this paper is to analyse research findings on the growth aspirations of the female entrepreneurs and offer alternative views of understanding, by employing feminist theories, in explaining why women behave differently in their adaptation of reduced growth intentions. In an attempt to understand the tendencies that might lead to reduced growth intentions in female entrepreneurship, literature was extensively reviewed on female entrepreneurship and growth intentions. The study uses a desk-based approach to data collection. An overview of the main issues concerning female entrepreneurs growth intentions is presented. The conclusions drawn from the literature provide foundations for policy measures assisting women to overcome their low growth aspirations and measures required to encourage women to grow their businesses. The paper identifies research gaps that continue to exist in female entrepreneurs growth intentions research with the aim of encouraging further research in this field.

Sub-chronic oral toxicity of Cuminum cyminum L.'s essential oil in female Wistar rats.

Science.gov (United States)

Taghizadeh, Mohsen; Ostad, Seyed Naser; Asemi, Zatollah; Mahboubi, Mohaddese; Hejazi, Sara; Sharafati-Chaleshtori, Reza; Rashidi, Aliakbar; Akbari, Hosein; Sharifi, Nasrin

2017-08-01

The current study was performed to evaluate the toxicity of Cuminum cyminum L. (C. cyminum)'s essential oil after 23 days and 45 days of repeated oral administration in female Wistar rats. A total of 80 healthy female Wistar rats were randomly selected and divided into 4 groups. The rats were gavaged with C. cyminum's essential oil at dose levels of 0, 250, 500 and 1000 mg/kg/day. Clinical signs, body weight, hematology, serum biochemistry and organ histopathology were assessed once after 23 days and again after 45 days passed from the start of the intervention. Oral administration of C. cyminum's essential oil had no observed adverse effects on clinical signs, mortality, body weight, hematology, biochemistry and organ histology (liver, kidneys, spleen and lungs) in a sample of healthy female Wistar rats after 23 days and 45 days from the start of the study. However, an increase in serum levels of alanine transaminase (ALT) was found only at dose level of 1000 mg/kg/d C. cyminum's essential oil, after the 23-days interval. We conservatively defined the non-observed adverse effect level (NOAEL) for C. cyminum's essential oil as 500 mg/kg/d in female Wistar rats. The present study results should be treated with cautious in terms of the other organs' toxicity. Copyright © 2017 Elsevier Inc. All rights reserved.