Sample records for unrelated subjects shows

  1. Retrieval-induced forgetting in schizophrenia

    PubMed Central

    Nestor, Paul G.; Piech, Richard; Allen, Christopher; Niznikiewicz, Margaret; Shenton, Martha; McCarley, Robert W.

    2009-01-01

    Retrieving category associates (e.g., FRUIT-ORANGE) may induce forgetting other category members (e.g., FRUIT-BANANA), a phenomenon known as retrieval-induced forgetting (RIF). We designed 2 experiments to examine the role of RIF in the associative memory impairment of schizophrenia (SZ). Subjects studied 36 category-exemplar pairs, generated from 6 categories composed of 6 members each. For half of the studied category-exemplar pairs, subjects practiced retrieval by completing word stems, followed by a delayed category-cued recall on all of the practiced and unpracticed items. Experiment 1 used unrelated category exemplars-pairs (e.g., FRUIT-ORANGE, METALS-IRON), whereas experiment 2 included related category exemplar pairs (e.g., COTTON-SHIRT, LEATHER-SKIRT). SZ showed reduced associative memory but normal RIF for unrelated categories used in experiment 1. For experiment 2, SZ showed a significant decline in associative memory for related but not unrelated category-exemplars in comparison to controls. Results suggested faulty specificity/distinctiveness for encoding and retrieval, but not abnormal RIF in the associative memory disturbance of SZ. PMID:15885511

  2. Retrieval-induced forgetting in schizophrenia.

    PubMed

    Nestor, Paul G; Piech, Richard; Allen, Christopher; Niznikiewicz, Margaret; Shenton, Martha; McCarley, Robert W

    2005-06-15

    Retrieving category associates (e.g., FRUIT-ORANGE) may induce forgetting other category members (e.g., FRUIT-BANANA), a phenomenon known as retrieval-induced forgetting (RIF). We designed 2 experiments to examine the role of RIF in the associative memory impairment of schizophrenia (SZ). Subjects studied 36 category-exemplar pairs, generated from 6 categories composed of 6 members each. For half of the studied category-exemplar pairs, subjects practiced retrieval by completing word stems, followed by a delayed category-cued recall on all of the practiced and unpracticed items. Experiment 1 used unrelated category exemplars-pairs (e.g., FRUIT-ORANGE, METALS-IRON), whereas experiment 2 included related category exemplar pairs (e.g., COTTON-SHIRT, LEATHER-SKIRT). SZ showed reduced associative memory but normal RIF for unrelated categories used in experiment 1. For experiment 2, SZ showed a significant decline in associative memory for related but not unrelated category-exemplars in comparison to controls. Results suggested faulty specificity/distinctiveness for encoding and retrieval, but not abnormal RIF in the associative memory disturbance of SZ.

  3. Abdominal Pain-Associated Functional Gastrointestinal Disorder Prevalence in Children and Adolescents with Celiac Disease on Gluten-Free Diet: A Multinational Study.

    PubMed

    Saps, Miguel; Sansotta, Naire; Bingham, Sean; Magazzu, Giuseppe; Grosso, Caterina; Romano, Simone; Pusatcioglu, Cenk; Guandalini, Stefano

    2017-03-01

    To test the hypothesis that children with celiac disease (CD) on gluten-free diet are at increased risk of abdominal pain (AP) associated-functional gastrointestinal disorders (FGIDs). This was a multinational cross-sectional study performed from 2014 to 2015. Patients 4-18 years of age with CD on gluten-free diet for longer than 6 months were recruited from pediatric CD clinics in US and Italy. Control groups included siblings of children with CD (with normal tissue transglutaminase levels) and unrelated controls. Subjects or parents completed the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III. Children (n = 289) were recruited (55% US, 45% Italy): 96 children with CD, 96 sibling controls, and 97 unrelated controls. Chronic AP was present in 30 (30.9%) subjects with CD, 22 (22.7%) sibling controls, and 21 (21.6%) unrelated controls (P = .26 patients with CD vs siblings; P = .18 patients with CD vs unrelated; P = .96 siblings vs unrelated). AP-FGIDs were present in 8 (8.2%) subjects with CD, 8 (8.2%) sibling controls, and 2 (2.1%) unrelated controls (P = 1.00 subjects with CD vs sibling controls; P = .06 subjects with CD vs unrelated controls; P = .06 sibling controls vs unrelated controls). This multinational study evaluated the prevalence of chronic abdominal pain and AP-FGIDs in the pediatric population with CD. We found that subjects with CD and controls have a similar prevalence of chronic AP and AP-FGIDs. This suggests that not all types of gastrointestinal inflammation result in AP-FGIDs in children. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

    PubMed Central

    Berkovic, Samuel F.; Dibbens, Leanne M.; Oshlack, Alicia; Silver, Jeremy D.; Katerelos, Marina; Vears, Danya F.; Lüllmann-Rauch, Renate; Blanz, Judith; Zhang, Ke Wei; Stankovich, Jim; Kalnins, Renate M.; Dowling, John P.; Andermann, Eva; Andermann, Frederick; Faldini, Enrico; D'Hooge, Rudi; Vadlamudi, Lata; Macdonell, Richard A.; Hodgson, Bree L.; Bayly, Marta A.; Savige, Judy; Mulley, John C.; Smyth, Gordon K.; Power, David A.; Saftig, Paul; Bahlo, Melanie

    2008-01-01

    Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination of molecular strategies to find the responsible gene and show its effects in an animal model. Utilizing only three unrelated affected individuals and their relatives, we used homozygosity mapping with single-nucleotide polymorphism chips to localize AMRF. We then used microarray-expression analysis to prioritize candidates prior to sequencing. The disorder was mapped to 4q13-21, and microarray-expression analysis identified SCARB2/Limp2, which encodes a lysosomal-membrane protein, as the likely candidate. Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein. Reanalysis of an existing Limp2 knockout mouse showed intracellular inclusions in cerebral and cerebellar cortex, and the kidneys showed subtle glomerular changes. This study highlights that recessive genes can be identified with a very small number of subjects. The ancestral lysosomal-membrane protein SCARB2/LIMP-2 is responsible for AMRF. The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies. PMID:18308289

  5. Rethinking the advantage of zero-HLA mismatches in unrelated living donor kidney transplantation: implications on kidney paired donation.

    PubMed

    Casey, Michael Jin; Wen, Xuerong; Rehman, Shehzad; Santos, Alfonso H; Andreoni, Kenneth A

    2015-04-01

    The OPTN/UNOS Kidney Paired Donation (KPD) Pilot Program allocates priority to zero-HLA mismatches. However, in unrelated living donor kidney transplants (LDKT)-the same donor source in KPD-no study has shown whether zero-HLA mismatches provide any advantage over >0 HLA mismatches. We hypothesize that zero-HLA mismatches among unrelated LDKT do not benefit graft survival. This retrospective SRTR database study analyzed LDKT recipients from 1987 to 2012. Among unrelated LDKT, subjects with zero-HLA mismatches were compared to a 1:1-5 matched (by donor age ±1 year and year of transplantation) control cohort with >0 HLA mismatches. The primary endpoint was death-censored graft survival. Among 32,654 unrelated LDKT recipients, 83 had zero-HLA mismatches and were matched to 407 controls with >0 HLA mismatches. Kaplan-Meier analyses for death-censored graft and patient survival showed no difference between study and control cohorts. In multivariate marginal Cox models, zero-HLA mismatches saw no benefit with death-censored graft survival (HR = 1.46, 95% CI 0.78-2.73) or patient survival (HR = 1.43, 95% CI 0.68-3.01). Our data suggest that in unrelated LDKT, zero-HLA mismatches may not offer any survival advantage. Therefore, particular study of zero-HLA mismatching is needed to validate its place in the OPTN/UNOS KPD Pilot Program allocation algorithm. © 2014 Steunstichting ESOT.

  6. Children's associative learning: automatic and deliberate encoding of meaningful associations.

    PubMed

    Guttentag, R

    1995-01-01

    Three experiments were conducted examining 10- and 11-year-old children's deliberate and automatic encoding of meaningful associative relationships on a paired-associate learning task. Subjects in Experiment 1 were presented pairs of related and unrelated words under deliberate memorization and item-specific incidental-learning conditions. Cued-recall performance was superior with related relative to unrelated pairs under both instructional conditions, suggesting that the encoding of an association between items occurred automatically with meaningfully related words. In Experiment 2, it was found that execution of a verbal elaboration strategy required more time with unrelated than with related pairs, suggesting greater ease of elaboration strategy execution with related materials. Experiment 3 monitored strategy use online using a think-aloud procedure. Cued-recall performance was superior with related pairs when subjects used rehearsal. In contrast, elaboration produced equivalent levels of recall with both types of items, but subjects executed the strategy successfully more often with related than with unrelated pairs. These findings are discussed in terms of the role of automatic processes and the effort demands of strategy execution in children's strategy use.

  7. Food sharing is linked to urinary oxytocin levels and bonding in related and unrelated wild chimpanzees

    PubMed Central

    Wittig, Roman M.; Crockford, Catherine; Deschner, Tobias; Langergraber, Kevin E.; Ziegler, Toni E.; Zuberbühler, Klaus

    2014-01-01

    Humans excel in cooperative exchanges between unrelated individuals. Although this trait is fundamental to the success of our species, its evolution and mechanisms are poorly understood. Other social mammals also build long-term cooperative relationships between non-kin, and recent evidence shows that oxytocin, a hormone involved in parent–offspring bonding, is likely to facilitate non-kin as well as kin bonds. In a population of wild chimpanzees, we measured urinary oxytocin levels following a rare cooperative event—food sharing. Subjects showed higher urinary oxytocin levels after single food-sharing events compared with other types of social feeding, irrespective of previous social bond levels. Also, urinary oxytocin levels following food sharing were higher than following grooming, another cooperative behaviour. Therefore, food sharing in chimpanzees may play a key role in social bonding under the influence of oxytocin. We propose that food-sharing events co-opt neurobiological mechanisms evolved to support mother–infant bonding during lactation bouts, and may act as facilitators of bonding and cooperation between unrelated individuals via the oxytocinergic system across social mammals. PMID:24430853

  8. Porphyromonas endodontalis: prevalence and distribution of restriction enzyme patterns in families.

    PubMed

    Petit, M D; van Winkelhoff, A J; van Steenbergen, T J; de Graaff, J

    1993-08-01

    In this study we determined the prevalence and distribution of Porphyromonas endodontalis in 26 families consisting of 107 subjects. P. endodontalis was present in 24% of the investigated subjects and was recovered most often from the dorsum of the tongue (50%). Isolation was also possible from the tonsils, the buccal mucosa, the saliva and the periodontal pocket. The usefulness of restriction endonuclease analysis as a typing method for this particular species was investigated by typing 19 isolates from unrelated individuals. All these isolates had unique restriction endonuclease patterns. The observed heterogeneity indicates that restriction endonuclease analysis is a sensitive measure of genetic dissimilarity between P. endodontalis isolates and is able to characterize individual isolates. Application of restriction endonuclease analysis to the obtained clinical isolates in this study shows the possibility of the presence of multiple clonal types within one subject. The DNA patterns of all P. endodontalis isolates from unrelated individuals were found to be distinct. In 3 families the DNA patterns of isolates from the mother and her child were indistinguishable. These data indicate the possibility of intrafamilial transmission of P. endodontalis.

  9. The genetic control of phenformin 4-hydroxylation.

    PubMed Central

    Shah, R R; Evans, D A; Oates, N S; Idle, J R; Smith, R L

    1985-01-01

    Previously published results of phenformin 4-hydroxylation in 195 unrelated white British volunteers and 87 family members of 27 randomly selected probands have been subjected to genetic analysis. The results clearly show that about 9% of this population has a genetically determined defect in carrying out this oxidation reaction. The character for the defect is inherited in a Mendelian autosomal recessive fashion. The polymorphism shows a substantial degree of dominance. PMID:4078865

  10. Passion for a Cause: How It Affects Health and Subjective Well-Being.

    PubMed

    St-Louis, Ariane C; Carbonneau, Noémie; Vallerand, Robert J

    2016-06-01

    Using the dualistic model of passion (Vallerand et al., 2003), this research investigated how harmonious passion (HP) or obsessive passion (OP) for a cause can affect volunteers' health and subjective well-being. Three studies with volunteers for local (local emergency crises and community help) and international (humanitarian missions) causes assessed physical and psychological health using cross-sectional and longitudinal designs. Study 1 (N = 108) showed that HP was positively related to satisfaction with one's involvement in the cause and unrelated to physical injuries due to cause involvement. OP was unrelated to satisfaction but positively associated with injuries. Findings were replicated in Study 2 (N = 83). Moreover, self-neglect mediated the positive and negative effects of HP and OP, respectively, on injuries. Study 3 (N = 77) revealed that HP predicted an increase in satisfaction and health over a 3-month mission. OP predicted an increase in physical symptoms and a decrease in health. Furthermore, OP before a mission was positively related to self-neglect that was positively associated with physical symptoms after a mission. OP also positively predicted rumination that was conducive to posttraumatic stress disorder. HP was unrelated to these variables. Findings underscore the role of passion for a cause in predicting intrapersonal outcomes of volunteers. © 2014 Wiley Periodicals, Inc.

  11. Decision-making in information seeking on texts: an eye-fixation-related potentials investigation.

    PubMed

    Frey, Aline; Ionescu, Gelu; Lemaire, Benoit; López-Orozco, Francisco; Baccino, Thierry; Guérin-Dugué, Anne

    2013-01-01

    Reading on a web page is known to be not linear and people need to make fast decisions about whether they have to stop or not reading. In such context, reading, and decision-making processes are intertwined and this experiment attempts to separate them through electrophysiological patterns provided by the Eye-Fixation-Related Potentials technique (EFRPs). We conducted an experiment in which EFRPs were recorded while participants read blocks of text that were semantically highly related, moderately related, and unrelated to a given goal. Participants had to decide as fast as possible whether the text was related or not to the semantic goal given at a prior stage. Decision making (stopping information search) may occur when the paragraph is highly related to the goal (positive decision) or when it is unrelated to the goal (negative decision). EFRPs were analyzed on and around typical eye fixations: either on words belonging to the goal (target), subjected to a high rate of positive decisions, or on low frequency unrelated words (incongruent), subjected to a high rate of negative decisions. In both cases, we found EFRPs specific patterns (amplitude peaking between 51 to 120 ms after fixation onset) spreading out on the next words following the goal word and the second fixation after an incongruent word, in parietal and occipital areas. We interpreted these results as delayed late components (P3b and N400), reflecting the decision to stop information searching. Indeed, we show a clear spill-over effect showing that the effect on word N spread out on word N + 1 and N + 2.

  12. Decision-making in information seeking on texts: an eye-fixation-related potentials investigation

    PubMed Central

    Frey, Aline; Ionescu, Gelu; Lemaire, Benoit; López-Orozco, Francisco; Baccino, Thierry; Guérin-Dugué, Anne

    2013-01-01

    Reading on a web page is known to be not linear and people need to make fast decisions about whether they have to stop or not reading. In such context, reading, and decision-making processes are intertwined and this experiment attempts to separate them through electrophysiological patterns provided by the Eye-Fixation-Related Potentials technique (EFRPs). We conducted an experiment in which EFRPs were recorded while participants read blocks of text that were semantically highly related, moderately related, and unrelated to a given goal. Participants had to decide as fast as possible whether the text was related or not to the semantic goal given at a prior stage. Decision making (stopping information search) may occur when the paragraph is highly related to the goal (positive decision) or when it is unrelated to the goal (negative decision). EFRPs were analyzed on and around typical eye fixations: either on words belonging to the goal (target), subjected to a high rate of positive decisions, or on low frequency unrelated words (incongruent), subjected to a high rate of negative decisions. In both cases, we found EFRPs specific patterns (amplitude peaking between 51 to 120 ms after fixation onset) spreading out on the next words following the goal word and the second fixation after an incongruent word, in parietal and occipital areas. We interpreted these results as delayed late components (P3b and N400), reflecting the decision to stop information searching. Indeed, we show a clear spill-over effect showing that the effect on word N spread out on word N + 1 and N + 2. PMID:23966913

  13. More Effective Consolidation of Episodic Long-Term Memory in Children Than Adults-Unrelated to Sleep.

    PubMed

    Wang, Jing-Yi; Weber, Frederik D; Zinke, Katharina; Inostroza, Marion; Born, Jan

    2017-06-08

    Abilities to encode and remember events in their spatiotemporal context (episodic memory) rely on brain regions that mature late during childhood and are supported by sleep. We compared the temporal dynamics of episodic memory formation and the role of sleep in this process between 62 children (8-12 years) and 57 adults (18-37 years). Subjects recalled "what-where-when" memories after a short 1-hr retention interval or after a long 10.5-hr interval containing either nocturnal sleep or daytime wakefulness. Although children showed diminished recall of episodes after 1 hr, possibly resulting from inferior encoding, unlike adults, they showed no further decrease in recall after 10.5 hr. In both age groups, episodic memory benefitted from sleep. However, children's more effective offline retention was unrelated to sleep. © 2017 The Authors. Child Development © 2017 Society for Research in Child Development, Inc.

  14. Cognitive function and distress after common whiplash injury.

    PubMed

    Smed, A

    1997-02-01

    In a prospective study 29 patients fulfilled the criteria of Whiplash-Associated Disorders grade III in the Quebec classification. One month postinjury, computerized neuropsychological tests, a clinical interview and the symptom checklist SCL-90-R were administered. Three whiplash scales were extrapolated from SCL-90-R: pain, subjective cognitive difficulties and sleep disorders. SCL-90-R was repeated 6 months later. One month after the accident, 85% of the patients had resumed work. Subjective cognitive disturbances, however, were frequent but unrelated to test performances, which were within the normal range. Patients reporting stressful life events unrelated to the injury had more symptoms and elevated levels of distress on all SCL-90-R syndrome scales. At follow-up their distress was unchanged, and subjective cognitive function had deteriorated. Stressful life events unrelated to the accident and a high level of distress 1 month postinjury may augment the risk of "late whiplash syndrome". Reassessment 3-6 weeks postinjury as recommended by the Quebec Task Force should include assessment of complicating social factors and a psychological symptom checklist.

  15. Truthiness and falsiness of trivia claims depend on judgmental contexts.

    PubMed

    Newman, Eryn J; Garry, Maryanne; Unkelbach, Christian; Bernstein, Daniel M; Lindsay, D Stephen; Nash, Robert A

    2015-09-01

    When people rapidly judge the truth of claims presented with or without related but nonprobative photos, the photos tend to inflate the subjective truth of those claims--a "truthiness" effect (Newman et al., 2012). For example, people more often judged the claim "Macadamia nuts are in the same evolutionary family as peaches" to be true when the claim appeared with a photo of a bowl of macadamia nuts than when it appeared alone. We report several replications of that effect and 3 qualitatively new findings: (a) in a within-subjects design, when people judged claims paired with a mix of related, unrelated, or no photos, related photos produced truthiness but unrelated photos had no significant effect relative to no photos; (b) in a mixed design, when people judged claims paired with related (or unrelated) and no photos, related photos produced truthiness and unrelated photos produced "falseness;" and (c) in a fully between design, when people judged claims paired with either related, unrelated, or no photos, neither truthiness nor falsiness occurred. Our results suggest that photos influence people's judgments when a discrepancy arises in the expected ease of processing, and also support a mechanism in which-against a backdrop of an expected standard-related photos help people generate pseudoevidence to support claims. (c) 2015 APA, all rights reserved).

  16. Electrocardiographic abnormalities in amateur male marathon runners.

    PubMed

    Kaleta, Anna M; Lewicka, Ewa; Dąbrowska-Kugacka, Alicja; Lewicka-Potocka, Zuzanna; Wabich, Elżbieta; Szerszyńska, Anna; Dyda, Julia; Sobolewski, Jakub; Koenner, Jakub; Raczak, Grzegorz

    2018-06-18

    Sports activity has become extremely popular among amateurs. Electrocardiography is a useful tool in screening for cardiac pathologies in athletes; however, there is little data on electrocardiographic abnormalities in the group of amateur athletes. The aim of this study was to analyze the abnormalities in resting and exercise electrocardiograms (ECGs) in a group of amateur athletes, and try to determine whether the criteria applied for the general population or for athletes' ECGs should be implemented in this group. In 40 amateur male marathon runners, 3 consecutive 12-lead ECGs were performed: 2-3 weeks before (stage 1), just after the run (stage 2) and 2-3 weeks after the marathon (stage 3). Resting (stage 1) and exercise (stage 2) ECGs were analyzed following the refined criteria for the assessment of athlete's ECG (changes classified as training-related, borderline or training-unrelated). In resting ECGs, at least 1 abnormality was found in 92.5% of the subjects and the most common was sinus bradycardia (62.5%). In post-exercise ECGs, at least 1 abnormality was present in 77.5% of the subjects and the most common was right atrium enlargement (RAE) (42.5%). Training-related ECG variants were more frequent at rest (82.5% vs 42.5%; p = 0.0008), while borderline variants - after the run (22.5% vs 57.5%; p = 0.0004). Training-unrelated abnormalities were found in 15% and 10% of the subjects, respectively (p-value - nonsignificant), and the most common was T-wave inversion. Even if the refined criteria rather than the criteria used for normal sedentary population were applied, the vast majority of amateur runners showed at least 1 abnormality in resting ECGs, which were mainly training-related variants. However, at rest, in 15% of the subjects, pathologic training-unrelated abnormalities were found. The most frequent post-exercise abnormality was right atrial enlargement. General electrocardiographic screening in amateur athletes should be taken into consideration.

  17. When true memory availability promotes false memory: evidence from confabulating patients.

    PubMed

    Ciaramelli, Elisa; Ghetti, Simona; Frattarelli, Massimo; Làdavas, Elisabetta

    2006-01-01

    We explored the extent to which confabulators are susceptible to false recall and false recognition, and whether false recognition is reduced when memory for studied items is experimentally enhanced. Five confabulating patients, nine non-confabulating amnesics--including patients with (F amnesics) and without frontal-lobe dysfunction (NF amnesics)--and 14 control subjects underwent the DRM paradigm [Roediger, H. L., & McDermott, K. B. (1995). Creating false memories: Remembering words not presented in lists. Journal of Experimental Psychology: Learning, Memory and Cognition, 21, 803-814.] in two experimental conditions. In both conditions participants studied eight lists of semantic associates, and free recall was tested after the presentation of each list. In the Standard condition recognition was tested after the presentation of all the lists, whereas in the Proximal condition patients were administered a six-item recognition task after the presentation of each list. Participants also provided remember or know judgements, and described the content of their recollections. All groups of patients recalled a lower proportion of targets and critical lures than did control subjects, but confabulators recalled more words unrelated to the studied lists than did NF amnesics and controls. All groups of participants improved true recognition across conditions. However, whereas normal controls suppressed false recognition to critical lures in the Proximal compared to the Standard condition, and non-confabulating amnesics showed comparable gist-based false recognition, confabulators showed increased levels of false recognition to critical lures across conditions. Furthermore, NF amnesics significantly reduced false recognition to unrelated lures in the Proximal compared to the Standard condition, whereas confabulators were unable to suppress false recognition to unrelated lures across conditions. Analysis of the phenomenological experience showed that, unlike non-confabulating amnesics, confabulators characterized true and false memories with irrelevant information related to test items. Results are interpreted in light of confabulators' monitoring deficits.

  18. HLA association in Singapore children with Grave's disease.

    PubMed

    Tan Siok-Hoon; Chan Soh-Ha; Lee Bee-Wah; Wee Guan-Bock; Wong Hock-Boon

    1988-06-01

    HLA associations in patients with Grave's disease are B8 in whites and BW35 in Japanese. This study shows the HLA association of Singapore Chinese children with Grave's disease. Forty unrelated Chinese children with Grave's disease were typed. The control population consisted of 238 consecutive unrelated normal Chinese individuals. Patients with Grave's disease showed a significantly higher frequency of BW46 than control subjects (corrected P = .0005, relative risk (RR) = 4.61). Only two patients had BW35 and none had B8. There was an increased frequency of both homozygotes and heterozygotes in thyrotoxic patients compared with controls, the RR being slightly higher in the homozygotes. Among the patients, BW46 was most frequently associated with B40, B13, and B15. The joint occurrence of BW46/B40 in thyrotoxic children had a lower relative risk than BW46 alone, whereas the joint occurrence of BW46/B13 had a higher relative risk than BW46 alone.

  19. Relationship of genetically transmitted alpha EEG traits to anxiety disorders and alcoholism

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Enoch, M.A.; Rohrbaugh, W.; Harris, C.R.

    We tested the hypothesis that a heritable EEG trait, the low voltage alpha (LV), is associated with psychiatric disorders. Modest to moderate evidence for genetic linkage of both panic disorder and the low voltage alpha trait to the same region of chromosome 20q has recently been reported, raising the issue of whether there is a phenotypic correlation between these traits. A total of 124 subjects including 50 unrelated index subjects and 74 relatives were studied. Alpha EEG power was measured and EEG phenotypes were impressionistically classified. Subjects were psychiatrically interviewed using the SADS-L and blind-rated by RDC criteria. Alcoholics weremore » four times more likely to be LV (including so-called borderline low voltage alpha) than were nonalcoholic, nonanxious subjects. Alcoholics with anxiety disorder are 10 times more likely to be LV. However, alcoholics without anxiety disorder were similar to nonalcoholics in alpha power. An anxiety disorder (panic disorder, phobia, or generalized anxiety) was found in 14/17 LV subjects as compared to 34/101 of the rest of the sample (P < 0.01). Support for these observations was found in the unrelated index subjects in whom no traits would be shared by familial clustering. Lower alpha power in anxiety disorders was not state-dependent, as indicated by the Spielberger Anxiety Scale. Familial covariance of alpha power was 0.25 (P < 0.01). These findings indicate there may be a shared factor underlying the transmissible low voltage alpha EEG variant and vulnerability to anxiety disorders with associated alcoholism. This factor is apparently not rare, because LV was found in approximately 10% of unrelated index subjects and 5% of subjects free of alcoholism and anxiety disorders. 43 refs., 1 fig., 3 tabs.« less

  20. A cis-phase interaction study of genetic variants within the MAOA gene in major depressive disorder.

    PubMed

    Zhang, JieXu; Chen, YanBo; Zhang, KeRang; Yang, Hong; Sun, Yan; Fang, Yue; Shen, Yan; Xu, Qi

    2010-11-01

    The genetic basis of major depressive disorder (MDD) has been explored extensively, but the mode of transmission of the disease has yet to be established. To better understand the mechanism by which the monoamine oxidase A (MAOA) gene may play a role in developing MDD, the present work examined the cis-phase interaction between genetic variants within the MAOA gene for the pathogenesis of MDD. A variable number tandem repeat (VNTR) and 19 single nucleotide polymorphisms (SNPs) within the gene were genotyped in 512 unrelated patients with MDD and 567 unrelated control subjects among a Chinese population. Quantitative real-time polymerase chain reaction analysis was applied to test the effect of genetic variants on expression of the MAOA gene in MDD. Neither the VNTR polymorphism nor seven informative SNPs showed allelic association with MDD, but the cis-acting interactions between the VNTR polymorphism and four individual SNPs were strongly associated with MDD risk, of which the VNTR-rs1465107 combination showed the strongest association (p = .000011). Quantitative real-time polymerase chain reaction analysis showed that overall relative quantity of MAOA messenger RNA was significantly higher in patients with MDD than in control subjects (fold change = 5.28, p = 1.7 × 10⁻⁷) and that in the male subjects carrying the VNTR-L, rs1465107-A, rs6323-G, rs2072743-A, or rs1137070-T alleles, expression of MAOA messenger RNA was significantly higher in the patient group than in the control group. The cis-phase interaction between the VNTR polymorphism and functional SNPs may contribute to the etiology of MDD. Copyright © 2010 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  1. When does meaning making predict subjective well-being? Examining young and older adults in two cultures.

    PubMed

    Alea, Nicole; Bluck, Susan

    2013-01-01

    Two studies in different cultures (Study 1: USA, N=174, Study 2: Trinidad, N=167) examined whether meaning making, (i.e., both searching for meaning, and directing behaviour) is positively related to subjective well-being (SWB) by age (younger, older adults). In both studies, participants self-reported engagement in meaning making, and SWB (e.g., affect, future time perspective, psychological well-being). In Study 1, young Americans (compared to older) more frequently used their past to direct behaviour but doing so was unrelated to SWB. In older Americans, both types of meaning making were positively associated with SWB. In Study 2, Trinidadian younger adults were again more likely than older adults to engage in meaning making. Unlike in the American sample, however, directing behaviour was positively related to SWB for both young and older adults. The studies demonstrate that whether meaning making shows benefits for SWB may depend on type of meaning, age and culture. Note that although meaning making was sometimes unrelated to SWB, no detrimental relations to meaning making were found. The discussion focuses on the role of moderators in understanding when meaning making should lead to benefits versus costs to SWB.

  2. Prediction of intellectual deficits in children with acute lymphoblastic leukemia

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Trautman, P.D.; Erickson, C.; Shaffer, D.

    1988-06-01

    Possible predictors of reported lower cognitive functioning in irradiated children with acute lymphoblastic leukemia (ALL) were investigated. Thirty-four subjects, 5-14 years old, with ALL in continuous complete remission and without evidence of current or past central nervous system disease, were examined 9-110 months after diagnosis, using standard measures of intelligence and academic achievement. Subjects with a history of post-irradiation somnolence syndrome were significantly older at diagnosis than nonsomnolent subjects. Intelligence (IQ) was found to be unrelated to history of somnolence syndrome. IQ and achievement were unrelated to age at irradiation, irradiation-examination interval, and radiation dosages. The strongest predictor of IQmore » by far is parental social class. The importance of controlling for social class differences when searching for treatment effects on IQ and achievement is stressed.« less

  3. 20 CFR 416.1826 - Showing that you are not married when you apply for SSI.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... not live with an unrelated person of the opposite sex and you say that you are not married, we will... marriage has ended you must show us the decree of divorce or annulment or the death certificate if you can... are living with an unrelated person of the opposite sex. (1) If you are living with an unrelated...

  4. 20 CFR 416.1826 - Showing that you are not married when you apply for SSI.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... not live with an unrelated person of the opposite sex and you say that you are not married, we will... marriage has ended you must show us the decree of divorce or annulment or the death certificate if you can... are living with an unrelated person of the opposite sex. (1) If you are living with an unrelated...

  5. 20 CFR 416.1826 - Showing that you are not married when you apply for SSI.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... not live with an unrelated person of the opposite sex and you say that you are not married, we will... marriage has ended you must show us the decree of divorce or annulment or the death certificate if you can... are living with an unrelated person of the opposite sex. (1) If you are living with an unrelated...

  6. 20 CFR 416.1826 - Showing that you are not married when you apply for SSI.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... not live with an unrelated person of the opposite sex and you say that you are not married, we will... marriage has ended you must show us the decree of divorce or annulment or the death certificate if you can... are living with an unrelated person of the opposite sex. (1) If you are living with an unrelated...

  7. 20 CFR 416.1826 - Showing that you are not married when you apply for SSI.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... not live with an unrelated person of the opposite sex and you say that you are not married, we will... marriage has ended you must show us the decree of divorce or annulment or the death certificate if you can... are living with an unrelated person of the opposite sex. (1) If you are living with an unrelated...

  8. Query-seeded iterative sequence similarity searching improves selectivity 5–20-fold

    PubMed Central

    Li, Weizhong; Lopez, Rodrigo

    2017-01-01

    Abstract Iterative similarity search programs, like psiblast, jackhmmer, and psisearch, are much more sensitive than pairwise similarity search methods like blast and ssearch because they build a position specific scoring model (a PSSM or HMM) that captures the pattern of sequence conservation characteristic to a protein family. But models are subject to contamination; once an unrelated sequence has been added to the model, homologs of the unrelated sequence will also produce high scores, and the model can diverge from the original protein family. Examination of alignment errors during psiblast PSSM contamination suggested a simple strategy for dramatically reducing PSSM contamination. psiblast PSSMs are built from the query-based multiple sequence alignment (MSA) implied by the pairwise alignments between the query model (PSSM, HMM) and the subject sequences in the library. When the original query sequence residues are inserted into gapped positions in the aligned subject sequence, the resulting PSSM rarely produces alignment over-extensions or alignments to unrelated sequences. This simple step, which tends to anchor the PSSM to the original query sequence and slightly increase target percent identity, can reduce the frequency of false-positive alignments more than 20-fold compared with psiblast and jackhmmer, with little loss in search sensitivity. PMID:27923999

  9. Electroencephalogram oscillations support the involvement of task-unrelated thoughts in the mechanism of boredom: A pilot study.

    PubMed

    Miyauchi, Eri; Kawasaki, Masahiro

    2018-06-11

    Boredom is a universal experience; however, the neural mechanisms underlying the phenomenon remain unclear. Previous research suggests that boredom is related to attentional failure and derives a possible explanation for the cognitive processes of boredom as a product of appraisals made about task-unrelated thoughts. There are little published data regarding proposed processes from neuroscientific perspectives. Therefore, the authors aimed to examine whether cognitive processes of boredom with task-unrelated thoughts followed by appraisals of them can be explained by examining oscillatory correlates. Electroencephalography was used to measure changes in neural oscillatory activity during subjective experiences of boredom or dislike in healthy subjects. Using this approach, temporal information of brain activity particular to the boredom experience was acquired. Additionally, the Adult Attention-Deficit Hyperactivity Disorder Self-Report Scale was used to evaluate the effects of attentional deficits in the neural processing of boredom. Tonic increase in theta and transient increases in alpha activity were exhibited before the key press response for experiencing boredom; however, only tonic increases in theta amplitudes were boredom specific. The results of this pilot study suggest that the boredom experience is possibly associated with cognitive processes involved in task-unrelated thoughts, followed by their appraisals to be bored, mediated by alpha and theta activity. Copyright © 2018 Elsevier B.V. All rights reserved.

  10. Led into temptation? Rewarding brand logos bias the neural encoding of incidental economic decisions.

    PubMed

    Murawski, Carsten; Harris, Philip G; Bode, Stefan; Domínguez D, Juan F; Egan, Gary F

    2012-01-01

    Human decision-making is driven by subjective values assigned to alternative choice options. These valuations are based on reward cues. It is unknown, however, whether complex reward cues, such as brand logos, may bias the neural encoding of subjective value in unrelated decisions. In this functional magnetic resonance imaging (fMRI) study, we subliminally presented brand logos preceding intertemporal choices. We demonstrated that priming biased participants' preferences towards more immediate rewards in the subsequent temporal discounting task. This was associated with modulations of the neural encoding of subjective values of choice options in a network of brain regions, including but not restricted to medial prefrontal cortex. Our findings demonstrate the general susceptibility of the human decision making system to apparently incidental contextual information. We conclude that the brain incorporates seemingly unrelated value information that modifies decision making outside the decision-maker's awareness.

  11. Led into Temptation? Rewarding Brand Logos Bias the Neural Encoding of Incidental Economic Decisions

    PubMed Central

    Murawski, Carsten; Harris, Philip G.; Bode, Stefan; Domínguez D., Juan F.; Egan, Gary F.

    2012-01-01

    Human decision-making is driven by subjective values assigned to alternative choice options. These valuations are based on reward cues. It is unknown, however, whether complex reward cues, such as brand logos, may bias the neural encoding of subjective value in unrelated decisions. In this functional magnetic resonance imaging (fMRI) study, we subliminally presented brand logos preceding intertemporal choices. We demonstrated that priming biased participants' preferences towards more immediate rewards in the subsequent temporal discounting task. This was associated with modulations of the neural encoding of subjective values of choice options in a network of brain regions, including but not restricted to medial prefrontal cortex. Our findings demonstrate the general susceptibility of the human decision making system to apparently incidental contextual information. We conclude that the brain incorporates seemingly unrelated value information that modifies decision making outside the decision-maker's awareness. PMID:22479547

  12. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

    PubMed Central

    Wenham, Matt; Grieve, Samantha; Cummins, Michelle; Jones, Matthew L.; Booth, Sarah; Kilner, Rachel; Ancliff, Philip J.; Griffiths, Gillian M.; Mumford, Andrew D.

    2010-01-01

    Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which encodes the AP-3β3A subunit, resulting in frame shifts and introduction of nonsense substitutions (p.E693fsX13, p.E52fsX11). In the subject with p.E693fsX13, this resulted in expression of a truncated variant β3A protein. Cytotoxic T-lymphocyte (CTL) clones from both study subjects showed increased cell-surface expression of CD63 and reduced cytotoxicity. Platelets showed impaired aggregation and reduced uptake of 3H-serotonin. These findings are consistent with CTL granule and platelet dense granule defects, respectively. This report extends the clinical and laboratory description of HPS2. PMID:19679886

  13. Older but wilier: In-group accountability and the development of subjective group dynamics.

    PubMed

    Abrams, Dominic; Rutland, Adam; Cameron, Lindsey; Ferrell, Jennifer

    2007-01-01

    To test social and cognitive variables that may affect the development of subjective group dynamics, the authors had 224 children between the ages of 5 and 12 years evaluate an in-group and an out-group and normative and deviant in-group members under conditions of high or low accountability to in-group peers. In-group bias and relative favorability to normative versus deviant in-group members (differential evaluation) increased when children were accountable to peers and as a function of perceptions of peer group acceptance of these members (differential inclusion). These effects were significantly larger among older children. Multiple classification ability was unrelated to judgments of group members. This study shows that the development of subjective group dynamics involves an increase in sensitivity to the normative aspects of the intergroup context. Copyright 2006 APA, all rights reserved.

  14. Different verbal learning strategies in autism spectrum disorder: evidence from the Rey Auditory Verbal Learning Test.

    PubMed

    Bowler, Dermot M; Limoges, Elyse; Mottron, Laurent

    2009-06-01

    The Rey Auditory Verbal Learning Test, which requires the free recall of the same list of 15 unrelated words over 5 trials, was administered to 21 high-functioning adolescents and adults with autism spectrum disorder (ASD) and 21 matched typical individuals. The groups showed similar overall levels of free recall, rates of learning over trials and subjective organisation of their recall. However, the primacy portion of the serial position curve of the ASD participants showed slower growth over trials than that of the typical participants. The implications of this finding for our understanding of memory in ASD are discussed.

  15. A randomized controlled trial of single point acupuncture in primary dysmenorrhea.

    PubMed

    Liu, Cun-Zhi; Xie, Jie-Ping; Wang, Lin-Peng; Liu, Yu-Qi; Song, Jia-Shan; Chen, Yin-Ying; Shi, Guang-Xia; Zhou, Wei; Gao, Shu-Zhong; Li, Shi-Liang; Xing, Jian-Min; Ma, Liang-Xiao; Wang, Yan-Xia; Zhu, Jiang; Liu, Jian-Ping

    2014-06-01

    Acupuncture is often used for primary dysmenorrhea. But there is no convincing evidence due to low methodological quality. We aim to assess immediate effect of acupuncture at specific acupoint compared with unrelated acupoint and nonacupoint on primary dysmenorrhea. The Acupuncture Analgesia Effect in Primary Dysmenorrhoea-II is a multicenter controlled trial conducted in six large hospitals of China. Patients who met inclusion criteria were randomly assigned to classic acupoint (N = 167), unrelated acupoint (N = 167), or non-acupoint (N = 167) group on a 1:1:1 basis. They received three sessions with electro-acupuncture at a classic acupoint (Sanyinjiao, SP6), or an unrelated acupoint (Xuanzhong, GB39), or nonacupoint location, respectively. The primary outcome was subjective pain as measured by a 100-mm visual analog scale (VAS). Measurements were obtained at 0, 5, 10, 30, and 60 minutes following the first intervention. In addition, patients scored changes of general complaints using Cox retrospective symptom scales (RSS-Cox) and 7-point verbal rating scale (VRS) during three menstrual cycles. Secondary outcomes included VAS score for average pain, pain total time, additional in-bed time, and proportion of participants using analgesics during three menstrual cycles. Five hundred and one people underwent random assignment. The primary comparison of VAS scores following the first intervention demonstrated that classic acupoint group was more effective both than unrelated acupoint (-4.0 mm, 95% CI -7.1 to -0.9, P = 0.010) and nonacupoint (-4.0 mm, 95% CI -7.0 to -0.9, P = 0.012) groups. However, no significant differences were detected among the three acupuncture groups for RSS-Cox or VRS outcomes. The per-protocol analysis showed similar pattern. No serious adverse events were noted. Specific acupoint acupuncture produced a statistically, but not clinically, significant effect compared with unrelated acupoint and nonacupoint acupuncture in primary dysmenorrhea patients. Future studies should focus on effects of multiple points acupuncture on primary dysmenorrhea. Wiley Periodicals, Inc.

  16. Individual Differences in Subjective Utility and Risk Preferences: The Influence of Hedonic Capacity and Trait Anxiety

    PubMed Central

    Howlett, Jonathon R.; Paulus, Martin P.

    2017-01-01

    Individual differences in decision-making are important in both normal populations and psychiatric conditions. Variability in decision-making could be mediated by different subjective utilities or by other processes. For example, while traditional economic accounts attribute risk aversion to a concave subjective utility curve, in practice other factors could affect risk behavior. This distinction may have important implications for understanding the biological basis of variability in decision-making and for developing interventions to improve decision-making. Another aspect of decision-making that may vary between individuals is the sensitivity of subjective utility to counterfactual outcomes (outcomes that could have occurred, but did not). We investigated decision-making in relation to hedonic capacity and trait anxiety, two traits that relate to psychiatric conditions but also vary in the general population. Subjects performed a decision-making task, in which they chose between low- and high-risk gambles to win 0, 20, or 40 points on each trial. Subjects then rated satisfaction after each outcome on a visual analog scale, indicating subjective utility. Hedonic capacity was positively associated with the subjective utility of winning 20 points but was not associated with the concavity of the subjective utility curve (constructed using the mean subjective utility of winning 0, 20, or 40 points). Consistent with economic theory, concavity of the subjective utility curve was associated with risk aversion. Hedonic capacity was independently associated with risk seeking (i.e., not mediated by the shape of the subjective utility curve), while trait anxiety was unrelated to risk preferences. Contrary to our expectations, counterfactual sensitivity was unrelated to hedonic capacity and trait anxiety. Nevertheless, trait anxiety was associated with a self-report measure of regret-proneness, suggesting that counterfactual influences may occur via a pathway that is separate from immediate counterfactual processing biases. Taken together, our results show that hedonic capacity but not trait anxiety affects risk-taking through a mechanism that appears independent of the shape of the subjective utility curve, while hedonic capacity and trait anxiety do not affect the influence of counterfactual outcomes on subjective utility. The results have implications for understanding the underlying mechanisms of variable decision-making and for developing interventions to improve decision-making. PMID:28588508

  17. Individual Differences in Subjective Utility and Risk Preferences: The Influence of Hedonic Capacity and Trait Anxiety.

    PubMed

    Howlett, Jonathon R; Paulus, Martin P

    2017-01-01

    Individual differences in decision-making are important in both normal populations and psychiatric conditions. Variability in decision-making could be mediated by different subjective utilities or by other processes. For example, while traditional economic accounts attribute risk aversion to a concave subjective utility curve, in practice other factors could affect risk behavior. This distinction may have important implications for understanding the biological basis of variability in decision-making and for developing interventions to improve decision-making. Another aspect of decision-making that may vary between individuals is the sensitivity of subjective utility to counterfactual outcomes (outcomes that could have occurred, but did not). We investigated decision-making in relation to hedonic capacity and trait anxiety, two traits that relate to psychiatric conditions but also vary in the general population. Subjects performed a decision-making task, in which they chose between low- and high-risk gambles to win 0, 20, or 40 points on each trial. Subjects then rated satisfaction after each outcome on a visual analog scale, indicating subjective utility. Hedonic capacity was positively associated with the subjective utility of winning 20 points but was not associated with the concavity of the subjective utility curve (constructed using the mean subjective utility of winning 0, 20, or 40 points). Consistent with economic theory, concavity of the subjective utility curve was associated with risk aversion. Hedonic capacity was independently associated with risk seeking (i.e., not mediated by the shape of the subjective utility curve), while trait anxiety was unrelated to risk preferences. Contrary to our expectations, counterfactual sensitivity was unrelated to hedonic capacity and trait anxiety. Nevertheless, trait anxiety was associated with a self-report measure of regret-proneness, suggesting that counterfactual influences may occur via a pathway that is separate from immediate counterfactual processing biases. Taken together, our results show that hedonic capacity but not trait anxiety affects risk-taking through a mechanism that appears independent of the shape of the subjective utility curve, while hedonic capacity and trait anxiety do not affect the influence of counterfactual outcomes on subjective utility. The results have implications for understanding the underlying mechanisms of variable decision-making and for developing interventions to improve decision-making.

  18. A comparison of between- and within-subjects imitation designs.

    PubMed

    Kressley, Regina A; Knopf, Monika

    2006-12-01

    Two experimental methods, which have dominated the study of declarative memory in preverbal children with imitation tasks, namely the deferred imitation and elicited imitation paradigm, differ in the amount of physical contact with test stimuli afforded infants prior to a test for long-term recall. The current study assessed effects of pre- and post-demonstration contact with test stimuli on deferred imitation of novel, single-step unrelated actions with multiple objects by 8(1/2)- and 10(1/2)-month-old infants (N=50). The rate of target action completion after a delay remained consistent at both ages across different conditions of prior contact with test stimuli. This study shows that a within-subjects baseline appraisal is valid within certain experimental parameters and offers a more economical alternative. The results show furthermore that different experimental designs utilized to assess deferred imitation are highly comparable for the first year despite differences in determining baseline.

  19. How Can "Problem Subjects" Be Made Less of a Problem?

    ERIC Educational Resources Information Center

    Warwick, Philip; Ottewill, Roger

    2004-01-01

    Many higher education courses, across the whole range of disciplines, include subjects that are somewhat problematic because they appear to be unrelated to other components of the curriculum. Students frequently perceive them as irrelevant and boring. This makes it extremely difficult for lecturers to stimulate interest and results in an…

  20. Attention and Semantic Processing during Speech: An fMRI Study

    ERIC Educational Resources Information Center

    Rama, Pia; Relander-Syrjanen, Kristiina; Carlson, Synnove; Salonen, Oili; Kujala, Teija

    2012-01-01

    This fMRI study was conducted to investigate whether language semantics is processed even when attention is not explicitly directed to word meanings. In the "unattended" condition, the subjects performed a visual detection task while hearing semantically related and unrelated word pairs. In the "phoneme" condition, the subjects made phoneme…

  1. Persistence of insulin resistance in polycystic ovarian disease after inhibition of ovarian steroid secretion.

    PubMed

    Geffner, M E; Kaplan, S A; Bersch, N; Golde, D W; Landaw, E M; Chang, R J

    1986-03-01

    Six nonobese women with polycystic ovarian disease (PCOD) showed significant hyperinsulinemia, compared with controls after oral glucose (P less than 0.05). As an indicator of insulin sensitivity, in vitro proliferation of erythrocyte progenitor cells of PCOD subjects exposed to physiologic concentrations of insulin was significantly blunted (P less than 0.001). Monocyte insulin receptor binding was not impaired in the PCOD subjects. Three of the PCOD patients were treated with a long-acting gonadotropin-releasing hormone agonist for 6 months, which resulted in marked suppression of ovarian androgen secretion but no demonstrable changes in in vivo or in vitro indicators of insulin resistance. Thus insulin resistance in PCOD subjects appears to be unrelated to ovarian hyperandrogenism (or acanthosis or obesity). Although certain tissues are insulin-resistant in PCOD patients, the ovary may remain sensitive and overproduce androgens in response to high circulating insulin levels.

  2. Loss of RNA expression and allele-specific expression associated with congenital heart disease

    PubMed Central

    McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G.

    2016-01-01

    Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression. PMID:27670201

  3. Making perceptual learning practical to improve visual functions.

    PubMed

    Polat, Uri

    2009-10-01

    Task-specific improvement in performance after training is well established. The finding that learning is stimulus-specific and does not transfer well between different stimuli, between stimulus locations in the visual field, or between the two eyes has been used to support the notion that neurons or assemblies of neurons are modified at the earliest stage of cortical processing. However, a debate regarding the proposed mechanism underlying perceptual learning is an ongoing issue. Nevertheless, generalization of a trained task to other functions is an important key, for both understanding the neural mechanisms and the practical value of the training. This manuscript describes a structured perceptual learning method that previously used (amblyopia, myopia) and a novel technique and results that were applied for presbyopia. In general, subjects were trained for contrast detection of Gabor targets under lateral masking conditions. Training improved contrast sensitivity and diminished the lateral suppression when it existed (amblyopia). The improvement was transferred to unrelated functions such as visual acuity. The new results of presbyopia show substantial improvement of the spatial and temporal contrast sensitivity, leading to improved processing speed of target detection as well as reaction time. Consequently, the subjects, who were able to eliminate the need for reading glasses, benefited. Thus, here we show that the transfer of functions indicates that the specificity of improvement in the trained task can be generalized by repetitive practice of target detection, covering a sufficient range of spatial frequencies and orientations, leading to an improvement in unrelated visual functions. Thus, perceptual learning can be a practical method to improve visual functions in people with impaired or blurred vision.

  4. Impaired inhibition and working memory in response to internet-related words among adolescents with internet addiction: A comparison with attention-deficit/hyperactivity disorder.

    PubMed

    Nie, Jia; Zhang, Wei; Chen, Jia; Li, Wendi

    2016-02-28

    Impairments in response inhibition and working memory functions have been found to be closely associated with internet addiction (IA) symptoms and attention-deficit/hyperactivity disorder (ADHD) symptoms. In this study, we examined response inhibition and working memory processes with two different materials (internet-related and internet-unrelated stimuli) among adolescents with IA, ADHD and co-morbid IA/ADHD. Twenty-four individuals with IA, 28 individuals with ADHD, 17 individuals with IA/ADHD, and 26 matched normal controls (NC) individuals were recruited. All participants were measured with a Stop-Signal Task and 2-Back Task under the same experimental conditions. In comparison to the NC group, subjects with IA, ADHD and IA/ADHD demonstrated impaired inhibition and working memory. In addition, in comparison to internet-unrelated conditions, IA and co-morbid subjects performed worse on the internet-related condition in the Stop trials during the stop-signal task, and they showed better working memory on the internet-related condition in the 2-Back Task. The findings of our study suggest individuals with IA and IA/ADHD may be impaired in inhibition and working memory functions that might be linked to poor inhibition specifically related to internet-related stimuli, which will advance our understanding of IA and contribute to prevention and intervention strategies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Learning where to look: electrophysiological and behavioral indices of visual search in young and old subjects.

    PubMed

    Looren de Jong, H; Kok, A; Woestenburg, J C; Logman, C J; Van Rooy, J C

    1988-06-01

    The present investigation explores the way young and elderly subjects use regularities in target location in a visual display to guide search for targets. Although both young and old subjects show efficient use of search strategies, slight but reliable differences in reaction times suggest decreased ability in the elderly to use complex cues. Event-related potentials were very different for the young and the old. In the young, P3 amplitudes were larger on trials where the rule that governed the location of the target became evident; this was interpreted as an effect of memory updating. Enhanced positive Slow Wave amplitude indicated uncertainty in random search conditions. Elderly subjects' P3 and SW, however, seemed unrelated to behavioral performance, and they showed a large negative Slow Wave at central and parietal sites to randomly located targets. The latter finding was tentatively interpreted as a sign of increased effort in the elderly to allocate attention in visual space. This pattern of behavioral and ERP results suggests that age-related differences in search tasks can be understood in terms of changes in the strategy of allocating visual attention.

  6. Prioritizing Site-Selection And Use

    EPA Science Inventory

    Land subject to remediation is usually considered relative to its availability and its potential financial return-on-investment. Typically, these short-term considerations are unrelated to the long-term conditional relationships that exist between humanity and a sustainable envi...

  7. SUBJECTIVE MEMORY IN OLDER AFRICAN AMERICANS

    PubMed Central

    Sims, Regina C.; Whitfield, Keith E.; Ayotte, Brian J.; Gamaldo, Alyssa A.; Edwards, Christopher L.; Allaire, Jason C.

    2013-01-01

    The current analysis examined (a) if measures of psychological well-being predict subjective memory, and (b) if subjective memory is consistent with actual memory. Five hundred seventy-nine older African Americans from the Baltimore Study of Black Aging completed measures assessing subjective memory, depressive symptomatology, perceived stress, locus of control, and verbal and working memory. Higher levels of perceived stress and greater externalized locus of control predicted poorer subjective memory, but subjective memory did not predict objective verbal or working memory. Results suggest that subjective memory is influenced by aspects of psychological well-being but is unrelated to objective memory in older African Americans. PMID:21424958

  8. Neural Systems Underlying Lexical Competition: An Eyetracking and fMRI Study

    PubMed Central

    Righi, Giulia; Blumstein, Sheila E.; Mertus, John; Worden, Michael S.

    2010-01-01

    The present study investigated the neural bases of phonological onset competition using an eye tracking paradigm coupled with fMRI. Eighteen subjects were presented with an auditory target (e.g. beaker) and a visual display containing a pictorial representation of the target (e.g. beaker), an onset competitor (e.g. beetle), and two phonologically and semantically unrelated objects (e.g. shoe, hammer). Behavioral results replicated earlier research showing increased looks to the onset competitor compared to the unrelated items. fMRI results showed that lexical competition induced by shared phonological onsets recruits both frontal structures and posterior structures. Specifically, comparison between competitor and no-competitor trials elicited activation in two non-overlapping clusters in the left IFG, one located primarily within BA 44 and the other primarily located within BA 45, and one cluster in the left supramarginal gyrus extending into the posterior-superior temporal gyrus. These results indicate that the left IFG is sensitive to competition driven by phonological similarity and not only to competition among semantic/conceptual factors. Moreover, they indicate that the SMG is not only recruited in tasks requiring access to lexical form but is also recruited in tasks that require access to the conceptual representation of a word. PMID:19301991

  9. Adaptive genetic complementarity in mate choice coexists with selection for elaborate sexual traits

    PubMed Central

    Oh, Kevin P; Badyaev, Alexander V

    2006-01-01

    Choice of genetically unrelated mates is widely documented, yet it is not known how self-referential mate choice can co-occur with commonly observed directional selection on sexual displays. Across 10 breeding seasons in a wild bird population, we found strong fitness benefits of matings between genetically unrelated partners and show that self-referential choice of genetically unrelated mates alternates with sexual selection on elaborate plumage. Seasonal cycles of diminishing variation in ornamentation, caused by early pairing of the most elaborated males, and influx of increasingly genetically unrelated available mates caused by female-biased dispersal, lead to temporal fluctuations in the target of mate choice and enabled coexistence of directional selection for ornament elaboration with adaptive pairing of genetically unrelated partners. PMID:16822752

  10. Long-term interference at the semantic level: Evidence from blocked-cyclic picture matching.

    PubMed

    Wei, Tao; Schnur, Tatiana T

    2016-01-01

    Processing semantically related stimuli creates interference across various domains of cognition, including language and memory. In this study, we identify the locus and mechanism of interference when retrieving meanings associated with words and pictures. Subjects matched a probe stimulus (e.g., cat) to its associated target picture (e.g., yarn) from an array of unrelated pictures. Across trials, probes were either semantically related or unrelated. To test the locus of interference, we presented probes as either words or pictures. If semantic interference occurs at the stage common to both tasks, that is, access to semantic representations, then interference should occur in both probe presentation modalities. Results showed clear semantic interference effects independent of presentation modality and lexical frequency, confirming a semantic locus of interference in comprehension. To test the mechanism of interference, we repeated trials across 4 presentation cycles and manipulated the number of unrelated intervening trials (zero vs. two). We found that semantic interference was additive across cycles and survived 2 intervening trials, demonstrating interference to be long-lasting as opposed to short-lived. However, interference was smaller with zero versus 2 intervening trials, which we interpret to suggest that short-lived facilitation counteracted the long-lived interference. We propose that retrieving meanings associated with words/pictures from the same semantic category yields both interference due to long-lasting changes in connection strength between semantic representations (i.e., incremental learning) and facilitation caused by short-lived residual activation. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  11. The white-coat effect is unrelated to the difference between clinic and daytime blood pressure and is associated with greater reactivity to public speaking.

    PubMed

    Palatini, Paolo; Palomba, Daniela; Bertolo, Olivo; Minghetti, Rita; Longo, Daniele; Sarlo, Michela; Pessina, Achille C

    2003-03-01

    To compare the blood pressure (BP) response to doctor's visit with the BP reaction to a psycho-social challenge and with the difference between clinic and daytime BP (DeltaC-D). We studied 64 young stage-1 hypertensive subjects and 33 normotensive controls. Relationship between direct and surrogate measure of white-coat effect (WCE) and assessment of BP response to public speaking in subjects with normal or increased reaction to BP measurement. The responses to BP measurement by a doctor and to public speaking were assessed with beat-to-beat Finapres recording. DeltaC-D was calculated on the basis of two BP monitorings and used as a surrogate measure of WCE. BP and heart rate changes elicited by the visit were unrelated to DeltaC-D and were correlated to the changes caused by the speech test [P <0.001 for systolic BP (SBP), P = 0.01 for diastolic BP (DBP), and P <0.001 for heart rate]. Hypertensive subjects with SBP response to doctor's visit above the median (hyper-reactive) showed increased reactivity also to public speaking (61 +/- 15 mmHg), while those with BP response below the median (normo-reactive) had a response to the psycho-social challenge (40 +/- 21 mmHg, 0.001 versus hyper-reactive) similar to that of the normotensive controls (38 +/- 17 mmHg). Epinephrine urinary output was greater in the hyper-reactive than the normo-reactive subjects (23 versus 12 microg/24 h, = 0.01). The SBP response to public speaking was greater in the hypertensive subjects with higher systolic daytime BP than in those with lower daytime BP (55.3 +/- 20.9 versus 45.1 +/- 20.6 mmHg, = 0.046). Subjects with increased WCE have an exaggerated response also to psycho-social stimuli. Average daytime BP, which incorporates the BP reactions to many psycho-social triggers can, thus, not be taken as the basal BP of an individual. This helps explain why DeltaC-D does not reflect the true WCE.

  12. Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated caucasian individuals: Correlation with phenotypic activity

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Cascorbi, I.; Drakoulis, N.; Brockmoeller, J.

    1995-09-01

    The polymorphic arylamine N-acetyltransferase (NAT2; EC2.3.1.5) is supposed to be a susceptibility factor for several drug side effects and certain malignancies. A group of 844 unrelated German subjects was genotyped for their acetylation type, and 563 of them were also phenotyped. Seven mutations of the NAT2 gene were evaluated by allele-specific PCR (mutation 341C to T) and PCR-RFLP for mutations at nt positions 191, 282, 481, 590, 803, and 857. From the mutation pattern eight different alleles, including the wild type coding for rapid acetylation and seven alleles coding for slow phenotype, were determined. Four hundred ninety-seven subjects had amore » genotype of slow acetylation (58.9%; 95% confidence limits 55.5%-62.2%). Phenotypic acetylation capacity was expressed as the ratio of 5-acetylamino-6-formylamino-3-methyluracil and 1-methylxanthine in urine after caffeine intake. Some 6.7% of the cases deviated in genotype and phenotype, but sequencing DNA of these probands revealed no new mutations. Furthermore, linkage pattern of the mutations was always confirmed, as tested in 533 subjects. In vivo acetylation capacity of homozygous wild-type subjects (NAT2{sup *}4/{sup *}4) was significantly higher than in heterozygous genotypes (P = .001). All mutant alleles showed low in vivo acetylation capacities, including the previously not-yet-defined alleles {sup *}5A, {sup *}5C, and {sup *}13. Moreover, distinct slow genotypes differed significantly among each other, as reflected in lower acetylation capacity of {sup *}6A, {sup *}7B, and {sup *}13 alleles than the group of {sup *}5 alleles. The study demonstrated differential phenotypic activity of various NAT2 genes and gives a solid basis for clinical and molecular-epidemiological investigations. 34 refs., 4 figs., 7 tabs.« less

  13. Identification of the third/extra allele for forensic application in cases with TPOX tri-allelic pattern.

    PubMed

    Picanço, Juliane Bentes; Raimann, Paulo Eduardo; Motta, Carlos Henrique Ares Silveira da; Rodenbusch, Rodrigo; Gusmão, Leonor; Alho, Clarice Sampaio

    2015-05-01

    Genotyping of polymorphic short tandem repeats (STRs) loci is widely used in forensic DNA analysis. STR loci eventually present tri-allelic pattern as a genotyping irregularity and, in that situation, the doubt about the tri-allele locus frequency calculation can reduce the analysis strength. In the TPOX human STR locus, tri-allelic genotypes have been reported with a widely varied frequency among human populations. We investigate whether there is a single extra allele (the third allele) in the TPOX tri-allelic pattern, what it is, and where it is, aiming to understand its genomic anatomy and to propose the knowledge of this TPOX extra allele from genetic profile, thus preserving the two standard TPOX alleles in forensic analyses. We looked for TPOX tri-allelic subjects in 75,113 Brazilian families. Considering only the parental generation (mother+father) we had 150,226 unrelated subjects evaluated. From this total, we found 88 unrelated subjects with tri-allelic pattern in the TPOX locus (0.06%; 88/150,226). Seventy three of these 88 subjects (73/88; 83%) had the Clayton's original Type 2 tri-allelic pattern (three peaks of even intensity). The remaining 17% (15/88) show a new Type 2 derived category with heterozygote peak imbalance (one double dose peak plus one regular sized peak). In this paper we present detailed data from 66 trios (mother+father+child) with true biological relationships. In 39 of these families (39/66; 59%) the extra TPOX allele was transmitted either from the mother or from the father to the child. Evidences indicated the allele 10 as the extra TPOX allele, and it is on the X chromosome. The present data, which support the previous Lane hypothesis, improve the knowledge about tri-allelic pattern of TPOX CODIS' locus allowing the use of TPOX profile in forensic analyses even when with tri-allelic pattern. This evaluation is now available for different forensic applications. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  14. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

    PubMed

    Lake, Nicole J; Webb, Bryn D; Stroud, David A; Richman, Tara R; Ruzzenente, Benedetta; Compton, Alison G; Mountford, Hayley S; Pulman, Juliette; Zangarelli, Coralie; Rio, Marlene; Boddaert, Nathalie; Assouline, Zahra; Sherpa, Mingma D; Schadt, Eric E; Houten, Sander M; Byrnes, James; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Haude, Katrina; Zhang, Zhancheng; Retterer, Kyle; Bai, Renkui; Calvo, Sarah E; Mootha, Vamsi K; Christodoulou, John; Rötig, Agnes; Filipovska, Aleksandra; Cristian, Ingrid; Falk, Marni J; Metodiev, Metodi D; Thorburn, David R

    2017-08-03

    The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein translation, causing combined OXPHOS enzyme deficiency and clinical disease. Here we report four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects. Whole-exome sequencing was used to independently identify all variants. Two splice-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry and homozygous c.322-10G>A in affected sibling pairs from two unrelated families of Puerto Rican descent. In addition, compound heterozygous MRPS34 mutations were identified in a proband of French ancestry; a missense (c.37G>A [p.Glu13Lys]) and a nonsense (c.94C>T [p.Gln32 ∗ ]) variant. We demonstrated that these mutations reduce MRPS34 protein levels and the synthesis of OXPHOS subunits encoded by mtDNA. Examination of the mitoribosome profile and quantitative proteomics showed that the mitochondrial translation defect was caused by destabilization of the small mitoribosomal subunit and impaired monosome assembly. Lentiviral-mediated expression of wild-type MRPS34 rescued the defect in mitochondrial translation observed in skin fibroblasts from affected subjects, confirming the pathogenicity of MRPS34 mutations. Our data establish that MRPS34 is required for normal function of the mitoribosome in humans and furthermore demonstrate the power of quantitative proteomic analysis to identify signatures of defects in specific cellular pathways in fibroblasts from subjects with inherited disease. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  15. [Event-related potentials in character semantic priming of attention deficit hyperactivity disorder children and normal children: a comparative study].

    PubMed

    Xie, Na; Wang, Su-Hong; Ren, Yan-Ling; Ma, Ling; Dong, Xuan

    2009-02-17

    To investigate the cognitive event related potentials in Chinese character priming effect of children with attention deficit hyperactivity disorder (ADHD) and to analyze the neural mechanism of the priming effect. Fifty-two ADHD children aged (9.5 +/- 1.7) and 45 age-matched children without ADHD were asked to perform a Chinese character semantic priming task while electroencephalogram was recorded. During the Chinese character semantic priming task the subjects were instructed to judge whether the presented target word was a related word, unrelated word, or a pseudoword and event-related potentials (ERPs) were elicited and analyzed with the brain electricity source analysis (BESA) software. (1) The behavioral results showed that the reaction time to the unrelated character stimuli in the ADHD children was (1252 +/- 256) ms, significantly longer than that in the normal control [(1131 +/- 194) ms, P < 0.05]. (2) The amplitude of the character related N2 at the Cz lead in the ADHD children was -7.7 (-12.8, -5.0) microV, significantly larger than that of the normal controls [-5.6 (-9.4, -3.2) microV, P < 0.05]. (3) The amplitude of character unrelated stimuli P3 at the Cz lead of the ADHD children was 5.4 (2.0, 9.5) microV, significantly lower than that of the normal control [9.5 (4.2, 16.9) microV, P < 0.01]. There is a positive correlation between the amplitude of N2 and the difficulty in character semantic priming. It is more difficult for the ADHD children than normal controls to accomplish the same semantic task. ADHD children need more attention resources than normal controls. The amplitudes of character related-N2 and unrelated-P3 may become markers to measure the development of recognition in the ADHD children, thus being helpful in the ADHD diagnosis.

  16. Social Support and Performance in Complex Organizations.

    DTIC Science & Technology

    1984-01-30

    which subjects’ perceptions of their parents ’ interest in and overprotection of them were related to current social support levels. The findings...support levels are related to subjects’ perceptions of experiences earlier in life. Using the Parental Bonding Instrument, studies were carried out in...indicated clearly that, while parental over-protection is unrelated to scores on the Social Sarason 7 Support Questionnaire there is a highly significant

  17. Frequency and Clinicopathological Characteristics of Presenilin 1 Gly206Ala Mutation in Puerto Rican Hispanics with Dementia

    PubMed Central

    Arnold, Steven E.; Vega, Irving E.; Karlawish, Jason H.; WoIk, David A.; Nunez, Jessica; Negron, Mirna; Xie, Sharon X.; Wang, Li-San; Dubroff, Jacob G.; McCarty-Wood, Elisabeth; Trojanowski, John Q.; Van Deerlin, Vivianna

    2012-01-01

    The frequency and clinical and pathological characteristics associated with the Gly206Ala presenilin 1 (PSEN1) mutation in Puerto Rican and non-Puerto Rican Hispanics were evaluated at the University of Pennsylvania’s Alzheimer’s Disease Center. DNAs from all cohort subjects were genotyped for the Gly206Ala PSEN1 mutation. Carriers and non-carriers with neurodegenerative disease dementias were compared for demographic, clinical, psychometric, and biomarker variables. Nineteen (12.6%) of 151 unrelated subjects with dementia were discovered to carry the PSEN1 Gly 206Ala mutation. Microsatellite marker genotyping determined a common ancestral haplotype for all carriers. Carriers were all of Puerto Rican heritage with significantly younger age of onset, but otherwise were clinically and neuropsychologically comparable to those of non-carriers with AD. Three subjects had extensive topographic and biochemical biomarker assessments that were also typical of non-carriers with AD. Neuropathological examination in one subject revealed severe, widespread plaque and tangle pathology without other meaningful disease lesions. The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia. Considered together with the increased prevalence and mortality of AD reported in Puerto Rico, these high rates may reflect hereditary risk concentrated in the island which warrants further study. PMID:23114514

  18. X-linked congenital panhypopituitarism.

    PubMed

    Schimke, R N; Spaulding, J J; Hollowell, J G

    1971-05-01

    Two half brothers with panhypopituitary dwarfism are reported who have the same mother and different, unrelated fathers. The subject of hereditary panhypopituitarism is reviewed briefly. It is concluded that there are at least two forms of hereditary panhypopituitary dwarfism, one of which may be X-linked.

  19. A Meta-Analysis of Treatments for Panic Disorder.

    ERIC Educational Resources Information Center

    Clum, George A.; And Others

    1993-01-01

    Used metanalysis to compare effectiveness of psychological and pharmacological treatments for panic disorder. Percentage of agoraphobic subjects in sample and duration of illness were unrelated to effect size (ES). Psychological coping strategies involving relaxation training, cognitive restructuring, and exposure yielded most consistent ESs;…

  20. Response strategies in list learning by orangutans (Pongo pygmaeus x P. abelii).

    PubMed

    Swartz, Karyl B; Himmanen, Sharon A; Shumaker, Robert W

    2007-08-01

    Rhesus monkeys (Macaca mulatta) develop strategies to acquire and execute serial lists (K. B. Swartz & S. A. Himmanen, 2001). Serial probe recognition studies of list memory have demonstrated similarities across monkeys and humans (S. F. Sands & A. A. Wright, 1980). The present study extended the investigation of list learning and memory to determine whether orangutans (Pongo pygmaeus x P. abelii) would show evidence of subjective organization of photographic lists in a manner similar to that shown by humans learning a list of unrelated words (E. Tulving, 1962). No evidence for the effective use of a subjective organization strategy was found, but the orangutans developed a right-to-left spatial response strategy, which emerged during the acquisition of 5-item lists. This strategy was an effective way to reduce the load on working memory when presented with a complex array of items.

  1. The genes encoding fructose bisphosphate aldolase in Trypanosoma brucei are interspersed with unrelated genes.

    PubMed Central

    Vijayasarathy, S; Ernest, I; Itzhaki, J E; Sherman, D; Mowatt, M R; Michels, P A; Clayton, C E

    1990-01-01

    The fructose bisphosphate aldolase genes of Trypanosoma brucei are interspersed with unrelated genes whose transcript levels show no developmental modulation. Transcription appears approximately constant across the entire locus, suggesting that aldolase mRNA abundance is regulated post-transcriptionally. Images PMID:2349093

  2. Study of a possible role of the monoamine oxidase A (MAOA) gene in paranoid schizophrenia among a Chinese population.

    PubMed

    Sun, Yuhui; Zhang, Jiexu; Yuan, Yanbo; Yu, Xin; Shen, Yan; Xu, Qi

    2012-01-01

    Monoamine oxidase A (MAOA) is the enzyme responsible for degradation of several monoamines, such as dopamine and serotonin that are considered as being two of the most important neurotransmitters involved in the pathophysiology of schizophrenia. To study a possible role of the MAOA gene in conferring susceptibility to schizophrenia, the present study genotyped the variable number of tandem repeat (VNTR) polymorphism and 41 SNPs across this gene among 555 unrelated patients with paranoid schizophrenia and 567 unrelated healthy controls. Quantitative real-time PCR analysis was employed to quantify expression of MAOA mRNA in 73 drug-free patients. While none of these genotyped DNA markers showed allelic association with paranoid schizophrenia, haplotypic association was found for the VNTR-rs6323, VNTR-rs1137070, and VNTR-rs6323-rs1137070 haplotypes in female subjects. Nevertheless, no significant change of the expression of MAOA mRNA was detected in either female or male patients with paranoid schizophrenia. Our study suggests that the interaction between genetic variants within the MAOA gene may contribute to an increased risk of paranoid schizophrenia, but the precise mechanism needs further investigation. Copyright © 2011 Wiley Periodicals, Inc.

  3. Attentional focus during exposure in spider phobia: The effect of valence and schematicity of a partial distractor.

    PubMed

    Dethier, Vincent; Philippot, Pierre

    2017-06-01

    This study examines the impact of partial distractor valence and schematicity (i.e., their relation to fear representation) on exposure efficacy. One hundred forty-one spider phobics were exposed to spider pictures and asked, in a between-subjects experimental design, to form mental images of words that were fear related (to spiders) and negative (schematic negative), fear unrelated and negative (non-schematic negative) or fear unrelated and positive (non-schematic positive). Multilevel measures of anxiety were performed at pre-exposure, post-exposure and 6 days' follow-up. Results show that both of the negative condition groups displayed similar results on all outcome variables and systematically differed from the positive condition group. While the latter group displayed a stronger decline in distress during exposure itself, the other groups showed greater exposure benefits: a stronger decline in emotional and avoidance responses and skin conductance responses from pre- to post-exposure and more approach behaviours when confronted with a real spider. The critical feature of distraction thus seems not to be the fact of being distracted from the phobic stimulus, but rather the fact of performing emotional avoidance by distracting oneself from negative affect. The results highlight that the acceptance of aversive emotional states is a critical active process in successful exposure. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Approximation algorithms for scheduling unrelated parallel machines with release dates

    NASA Astrophysics Data System (ADS)

    Avdeenko, T. V.; Mesentsev, Y. A.; Estraykh, I. V.

    2017-01-01

    In this paper we propose approaches to optimal scheduling of unrelated parallel machines with release dates. One approach is based on the scheme of dynamic programming modified with adaptive narrowing of search domain ensuring its computational effectiveness. We discussed complexity of the exact schedules synthesis and compared it with approximate, close to optimal, solutions. Also we explain how the algorithm works for the example of two unrelated parallel machines and five jobs with release dates. Performance results that show the efficiency of the proposed approach have been given.

  5. A Test of the Discrimination Account in Equivalence Class Formation

    ERIC Educational Resources Information Center

    Wang, Ting; McHugh, Louise A.; Whelan, Robert

    2012-01-01

    An equivalence class is typically established when a subject is taught a set of interrelated conditional discriminations with physically unrelated stimuli and additional, untaught, conditional discriminations are then demonstrated. Interestingly, and perhaps counter-intuitively, the relations among the stimuli within such a class are not…

  6. Priming production: Neural evidence for enhanced automatic semantic activity preceding language production in schizophrenia.

    PubMed

    Kuperberg, Gina R; Delaney-Busch, Nathaniel; Fanucci, Kristina; Blackford, Trevor

    2018-01-01

    Lexico-semantic disturbances are considered central to schizophrenia. Clinically, their clearest manifestation is in language production. However, most studies probing their underlying mechanisms have used comprehension or categorization tasks. Here, we probed automatic semantic activity prior to language production in schizophrenia using event-related potentials (ERPs). 19 people with schizophrenia and 16 demographically-matched healthy controls named target pictures that were very quickly preceded by masked prime words. To probe automatic semantic activity prior to production, we measured the N400 ERP component evoked by these targets. To determine the origin of any automatic semantic abnormalities, we manipulated the type of relationship between prime and target such that they overlapped in (a) their semantic features (semantically related, e.g. "cake" preceding a < picture of a pie >, (b) their initial phonemes (phonemically related, e.g. "stomach" preceding a < picture of a starfish >), or (c) both their semantic features and their orthographic/phonological word form (identity related, e.g. "socks" preceding a < picture of socks >). For each of these three types of relationship, the same targets were paired with unrelated prime words (counterbalanced across lists). We contrasted ERPs and naming times to each type of related target with its corresponding unrelated target. People with schizophrenia showed abnormal N400 modulation prior to naming identity related (versus unrelated) targets: whereas healthy control participants produced a smaller amplitude N400 to identity related than unrelated targets, patients showed the opposite pattern, producing a larger N400 to identity related than unrelated targets. This abnormality was specific to the identity related targets. Just like healthy control participants, people with schizophrenia produced a smaller N400 to semantically related than to unrelated targets, and showed no difference in the N400 evoked by phonemically related and unrelated targets. There were no differences between the two groups in the pattern of naming times across conditions. People with schizophrenia can show abnormal neural activity associated with automatic semantic processing prior to language production. The specificity of this abnormality to the identity related targets suggests that that, rather than arising from abnormalities of either semantic features or lexical form alone, it may stem from disruptions of mappings (connections) between the meaning of words and their form.

  7. Evaluation of sleep quality in subjects with chronic nononcologic pain.

    PubMed

    Covarrubias-Gomez, Alfredo; Mendoza-Reyes, Jonathan J

    2013-08-01

    A survey conducted by the National Sleep Foundation found that 20% of Americans have sleep disorders and 45% experience chronic pain. Several authors evaluated the interrelationship between these functions using various instruments such the Pittsburgh Sleep Quality Index (PSQI) and identified that 34% of subjects in the general population have a poor quality of sleep, but there are few studies that assess the quality of sleep in patients with chronic pain of nonmalignant origin. We undertook this study to evaluate the quality of sleep using the PSQI in patients with chronic pain unrelated to cancer. We conducted a clinical, nonrandomized, uncontrolled, descriptive, and prospective study, applying the PSQI through a direct one-time interview to 311 subjects with chronic pain unrelated to cancer. According to the categorization of the PSQI between good and poor sleepers, 89% of the subjects were poor sleepers (n = 276). There are significant differences in pain intensity according to the categorization of the PSQI, with a higher intensity shown in the "poor sleepers" (analysis of variance [ANOVA], P = .030). Using a linear regression model to estimate the curve, a higher score is rated on the PSQI global score (ANOVA, P = .000, R(2) = .46) with the increase of the intensity of the pain. We conclude that "poor sleepers" or those who considered their sleep as "poor quality" have significantly higher pain intensity. This suggests that intensity of pain plays a role in evaluating the quality of sleep in the subjective perception of sleep and instruments that assess quality.

  8. Genome-wide association and replication studies identified TRHR as an important gene for lean body mass.

    PubMed

    Liu, Xiao-Gang; Tan, Li-Jun; Lei, Shu-Feng; Liu, Yong-Jun; Shen, Hui; Wang, Liang; Yan, Han; Guo, Yan-Fang; Xiong, Dong-Hai; Chen, Xiang-Ding; Pan, Feng; Yang, Tie-Lin; Zhang, Yin-Ping; Guo, Yan; Tang, Nelson L; Zhu, Xue-Zhen; Deng, Hong-Yi; Levy, Shawn; Recker, Robert R; Papasian, Christopher J; Deng, Hong-Wen

    2009-03-01

    Low lean body mass (LBM) is related to a series of health problems, such as osteoporotic fracture and sarcopenia. Here we report a genome-wide association (GWA) study on LBM variation, by using Affymetrix 500K single-nucleotide polymorphism (SNP) arrays. In the GWA scan, we tested 379,319 eligible SNPs in 1,000 unrelated US whites and found that two SNPs, rs16892496 (p = 7.55 x 10(-8)) and rs7832552 (p = 7.58 x 10(-8)), within the thyrotropin-releasing hormone receptor (TRHR) gene were significantly associated with LBM. Subjects carrying unfavorable genotypes at rs16892496 and rs7832552 had, on average, 2.70 and 2.55 kg lower LBM, respectively, compared to those with alternative genotypes. We replicated the significant associations in three independent samples: (1) 1488 unrelated US whites, (2) 2955 Chinese unrelated subjects, and (3) 593 nuclear families comprising 1972 US whites. Meta-analyses of the GWA scan and the replication studies yielded p values of 5.53 x 10(-9) for rs16892496 and 3.88 x 10(-10) for rs7832552. In addition, we found significant interactions between rs16892496 and polymorphisms of several other genes involved in the hypothalamic-pituitary-thyroid and the growth hormone-insulin-like growth factor-I axes. Results of this study, together with the functional relevance of TRHR in muscle metabolism, support the TRHR gene as an important gene for LBM variation.

  9. A study on the trinucleotide repeat associated with Huntington`s disease in the Chinese

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Bing-wen Soong; Jih-tsuu Wang

    1994-09-01

    Analysis of the polymorphic (CAG)n repeat in the hungingtin gene in the chinese confirmed the presence of an expanded repeat on all Huntington`s disease chromosomes. Measurement of the specific CAG repeat sequence in 34 HD chromosomes from 15 unrelated families and 190 control chromosomes from the Chinese population showed a range from 9 to 29 repeats in normal subjects and 40 to 58 in affected subjects. The size distributions of normal and affected alleles did not overlap. A clear correlation bewteen early onset of symptoms and very high repeat number was seen, but the spread of the age-at-onset in themore » major repeat range producing characteristic HD it too wide to be of diagnostic value. There was also variability in the transmitted repeat size for both sexes in the HD size range. Maternal HD alleles showed a moderate instability with a preponderance of size decrease, while paternal HD alleles had a tendency to increase in repeat size on transmission, the degree of which appeared proportional to the initial size.« less

  10. Unrelated business income tax: an update.

    PubMed

    Fama, A J

    1984-02-01

    To meet spiraling costs, tax-exempt hospitals increasingly are operating businesses unrelated to direct patient care. Knowing which activities may be open to challenge by the Internal Revenue Service (IRS) is essential to avoid the unrelated business income (UBI) tax. Three criteria must be met for an activity to be taxable as UBI: It must constitute a trade or business; It must be regularly carried on; and It must be unrelated to the organization's exempt purpose. The Internal Revenue Code and IRS rulings clearly exclude the following areas from UBI taxation: Activities performed by unpaid volunteers (e.g., hospital auxiliaries' fund-raising dinners and bazaars and the operation of thrift stores); Operations conducted for the convenience of the organization's members, students, patients, or employees (e.g., gift shops, cafeterias, coffee shops, parking lots, lounges, vending machines, pharmaceutical sales to inpatients and emergency room outpatients, and research activities for students' benefit; The sale of merchandise that has been received by gift (e.g., flea markets, baked goods sales, book sales, and rummage sales); Investment income such as dividends, interest, annuities, royalties, certain rents, and capital gains from the sale of investment assets; Gifts or contributions made directly to the facility; and Bingo games that are conducted commercially. Areas which may be subject to UBI taxation, or in which there have been controversial or contradictory court rulings, include: Pharmaceutical sales to the public or private physicians' patients; and Laboratory services provided to private physicians for treating their patients. IRS private letter rulings, though not precedential, have excluded from UBI taxation the x-ray income from a hospital's branch facility and rental income from property leased for use as a clinic or medical office building that is substantially related to the hospital's exempt functions. Private letter rulings have subjected to UBI taxation the income for a professional standards review organization's private review activities and debt-financed income from property that is not substantially related to the organization's exempt purpose.

  11. A Bootstrapped Approach to Multilingual Text Stream Parsing

    ERIC Educational Resources Information Center

    Londhe, Nikhil

    2017-01-01

    The ubiquitous hashtag has disruptively transformed how news stories are reported and shared across social media networks. Often, such text streams are massively multilingual with 50 different languages on an average and contain a combination of subjective user opinion, objective evolving information about the story and unrelated spam. This is in…

  12. Young Infants Prefer Prosocial to Antisocial Others

    ERIC Educational Resources Information Center

    Hamlin, J. Kiley; Wynn, Karen

    2011-01-01

    The current study replicates and extends the finding (Hamlin, Wynn & Bloom, 2007) that infants prefer individuals who act prosocially toward unrelated third parties over those who act antisocially. Using different stimuli from those used by Hamlin et al. (2007), somewhat younger subjects, and 2 additional social scenarios, we replicated the…

  13. 26 CFR 1.513-1 - Definition of unrelated trade or business.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 26 Internal Revenue 7 2014-04-01 2013-04-01 true Definition of unrelated trade or business. 1.513... experimental dairy herd maintained for scientific purposes by a research organization described in section 501... 501(c)(3) has a theater auditorium which is specially designed and equipped for showing of educational...

  14. 26 CFR 1.513-1 - Definition of unrelated trade or business.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 26 Internal Revenue 7 2011-04-01 2009-04-01 true Definition of unrelated trade or business. 1.513... experimental dairy herd maintained for scientific purposes by a research organization described in section 501... 501(c)(3) has a theater auditorium which is specially designed and equipped for showing of educational...

  15. 26 CFR 1.513-1 - Definition of unrelated trade or business.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Definition of unrelated trade or business. 1.513... experimental dairy herd maintained for scientific purposes by a research organization described in section 501... 501(c)(3) has a theater auditorium which is specially designed and equipped for showing of educational...

  16. Memory and learning with rapid audiovisual sequences

    PubMed Central

    Keller, Arielle S.; Sekuler, Robert

    2015-01-01

    We examined short-term memory for sequences of visual stimuli embedded in varying multisensory contexts. In two experiments, subjects judged the structure of the visual sequences while disregarding concurrent, but task-irrelevant auditory sequences. Stimuli were eight-item sequences in which varying luminances and frequencies were presented concurrently and rapidly (at 8 Hz). Subjects judged whether the final four items in a visual sequence identically replicated the first four items. Luminances and frequencies in each sequence were either perceptually correlated (Congruent) or were unrelated to one another (Incongruent). Experiment 1 showed that, despite encouragement to ignore the auditory stream, subjects' categorization of visual sequences was strongly influenced by the accompanying auditory sequences. Moreover, this influence tracked the similarity between a stimulus's separate audio and visual sequences, demonstrating that task-irrelevant auditory sequences underwent a considerable degree of processing. Using a variant of Hebb's repetition design, Experiment 2 compared musically trained subjects and subjects who had little or no musical training on the same task as used in Experiment 1. Test sequences included some that intermittently and randomly recurred, which produced better performance than sequences that were generated anew for each trial. The auditory component of a recurring audiovisual sequence influenced musically trained subjects more than it did other subjects. This result demonstrates that stimulus-selective, task-irrelevant learning of sequences can occur even when such learning is an incidental by-product of the task being performed. PMID:26575193

  17. Memory and learning with rapid audiovisual sequences.

    PubMed

    Keller, Arielle S; Sekuler, Robert

    2015-01-01

    We examined short-term memory for sequences of visual stimuli embedded in varying multisensory contexts. In two experiments, subjects judged the structure of the visual sequences while disregarding concurrent, but task-irrelevant auditory sequences. Stimuli were eight-item sequences in which varying luminances and frequencies were presented concurrently and rapidly (at 8 Hz). Subjects judged whether the final four items in a visual sequence identically replicated the first four items. Luminances and frequencies in each sequence were either perceptually correlated (Congruent) or were unrelated to one another (Incongruent). Experiment 1 showed that, despite encouragement to ignore the auditory stream, subjects' categorization of visual sequences was strongly influenced by the accompanying auditory sequences. Moreover, this influence tracked the similarity between a stimulus's separate audio and visual sequences, demonstrating that task-irrelevant auditory sequences underwent a considerable degree of processing. Using a variant of Hebb's repetition design, Experiment 2 compared musically trained subjects and subjects who had little or no musical training on the same task as used in Experiment 1. Test sequences included some that intermittently and randomly recurred, which produced better performance than sequences that were generated anew for each trial. The auditory component of a recurring audiovisual sequence influenced musically trained subjects more than it did other subjects. This result demonstrates that stimulus-selective, task-irrelevant learning of sequences can occur even when such learning is an incidental by-product of the task being performed.

  18. Growth in stature in fragile X families: A mixed longitudinal study

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Loesch, D.Z.; Huggins, R.M.; Hoang, N.H.

    1995-09-11

    The effect of fragile X on growth in stature was estimated in individuals aged 5-20 years from 50 fragile X families. The multivariate normal model for pedigree analysis was applied to the mixed longitudinal data, which varied with regard to intervals between the measurements and their number in individual subjects, totalling 349 measurement data points from fragile X families, and 292 data points from unrelated normal subjects. The results of genetic and regression analysis showed that, in fragile X boys and girls, total pubertal height gain is impaired, whereas the rate of growth during the preadolescent period is increased, comparedmore » with the growth rate of nonfragile X subjects. Moreover, the growth parameters in fragile X males were found to be correlated with the size of CGG trinucleotide expansion. The hypothesis of premature activation of the hypothalamo-pituitary gonadal axis is postulated as the cause of growth impairment in fragile X boys and girls, which should be verified by data on the timing of pubertal stages, hormone levels, and bone maturation. 33 refs., 2 figs., 3 tabs.« less

  19. Deficient saccadic inhibition in Asperger's disorder and the social-emotional processing disorder

    PubMed Central

    Manoach, D; Lindgren, K; Barton, J

    2004-01-01

    Background: Both Asperger's disorder and the social-emotional processing disorder (SEPD), a form of non-verbal learning disability, are associated with executive function deficits. SEPD has been shown to be associated with deficient saccadic inhibition. Objective: To study two executive functions in Asperger's disorder and SEPD, inhibition and task switching, using a single saccadic paradigm. Methods: 22 control subjects and 27 subjects with developmental social processing disorders—SEPD, Asperger's disorder, or both syndromes—performed random sequences of prosaccades and antisaccades. This design resulted in four trial types, prosaccades and antisaccades, that were either repeated or switched. The design allowed the performance costs of inhibition and task switching to be isolated. Results: Subjects with both Asperger's disorder and SEPD showed deficient inhibition, as indicated by increased antisaccade errors and a disproportionate increase in latency for antisaccades relative to prosaccades. In contrast, task switching error and latency costs were normal and unrelated to the costs of inhibition. Conclusions: This study replicates the finding of deficient saccadic inhibition in SEPD, extends it to Asperger's disorder, and implicates prefrontal cortex dysfunction in these syndromes. The finding of intact task switching shows that executive function deficits in Asperger's disorder and SEPD are selective and suggests that inhibition and task switching are mediated by distinct neural networks. PMID:15548490

  20. Comparative evaluation of differential laser-induced perturbation spectroscopy as a technique to discriminate emerging skin pathology

    NASA Astrophysics Data System (ADS)

    Kozikowski, Raymond T.; Smith, Sarah E.; Lee, Jennifer A.; Castleman, William L.; Sorg, Brian S.; Hahn, David W.

    2012-06-01

    Fluorescence spectroscopy has been widely investigated as a technique for identifying pathological tissue; however, unrelated subject-to-subject variations in spectra complicate data analysis and interpretation. We describe and evaluate a new biosensing technique, differential laser-induced perturbation spectroscopy (DLIPS), based on deep ultraviolet (UV) photochemical perturbation in combination with difference spectroscopy. This technique combines sequential fluorescence probing (pre- and post-perturbation) with sub-ablative UV perturbation and difference spectroscopy to provide a new spectral dimension, facilitating two improvements over fluorescence spectroscopy. First, the differential technique eliminates significant variations in absolute fluorescence response within subject populations. Second, UV perturbations alter the extracellular matrix (ECM), directly coupling the DLIPS response to the biological structure. Improved biosensing with DLIPS is demonstrated in vivo in a murine model of chemically induced skin lesion development. Component loading analysis of the data indicates that the DLIPS technique couples to structural proteins in the ECM. Analysis of variance shows that DLIPS has a significant response to emerging pathology as opposed to other population differences. An optimal likelihood ratio classifier for the DLIPS dataset shows that this technique holds promise for improved diagnosis of epithelial pathology. Results further indicate that DLIPS may improve diagnosis of tissue by augmenting fluorescence spectra (i.e. orthogonal sensing).

  1. Semantic relatedness between words in each individual brain: an event-related potential study.

    PubMed

    Hata, Masahiro; Homae, Fumitaka; Hagiwara, Hiroko

    2011-08-26

    The relationship between 2 words is judged by the meanings of words. Here, we examined how the semantic relatedness of words is structured in each individual brain. During measurements of event-related potentials (ERPs), participants performed semantic-relatedness judgments of word pairs. For each participant, we divided word pairs into 2 groups--related and unrelated pairs--and compared their ERPs. All of the participants showed a significant N400 effect. However, when we applied an identical grouping of pairs, this effect was observed only in half the number of the participants. These results show that our single-subject analysis of N400 extracted semantic relatedness of words in the individual brain. Future studies using this analysis will clarify the organization of the mental lexicon. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  2. Mechanisms underlying the production of false memories for famous people's names in aging and Alzheimer's disease.

    PubMed

    Plancher, Gaën; Guyard, Anne; Nicolas, Serge; Piolino, Pascale

    2009-10-01

    It is well known that the occurrence of false memories increases with aging, but the results remain inconsistent concerning Alzheimer's disease (AD). Moreover, the mechanisms underlying the production of false memories are still unclear. Using an experimental episodic memory test with material based on the names of famous people in a procedure derived from the DRM paradigm [Roediger, H. L., III, & McDermott, K. B. (1995). Creating false memories: Remembering words not presented in lists. Journal of Experimental Psychology: Learning, Memory & Cognition, 21, 803-814], we examined correct and false recall and recognition in 30 young adults, 40 healthy older adults, and 30 patients with AD. Moreover, we evaluated the relationships between false memory performance, correct episodic memory performance, and a set of neuropsychological assessments evaluating the semantic memory and executive functions. The results clearly indicated that correct recall and recognition performance decreased with the subjects' age, but it decreased even more with AD. In addition, semantically related false recalls and false recognitions increased with age but not with dementia. On the contrary, non-semantically related false recalls and false recognitions increased with AD. Finally, the regression analyses showed that executive functions mediated related false memories and episodic memory mediated related and unrelated false memories in aging. Moreover, executive functions predicted related and unrelated false memories in AD, and episodic and semantic memory predicted semantically related and unrelated false memories in AD. In conclusion, the results obtained are consistent with the current constructive models of memory suggesting that false memory creation depends on different cognitive functions and, consequently, that the impairments of these functions influence the production of false memories.

  3. Personal Conflict Impairs Performance on an Unrelated Self-Control Task: Lingering Costs of Uncertainty and Conflict.

    PubMed

    Alquist, Jessica L; Baumeister, Roy F; McGregor, Ian; Core, Tammy J; Benjamin, Ilil; Tice, Dianne M

    2018-01-01

    People have the ability to make important choices in their lives, but deliberating about these choices can have costs. The present study was designed to test the hypothesis that writing about conflicted personal goals and values (conflict condition) would impair self-control on an unrelated subsequent task as compared to writing about clear personal goals and values (clarity condition). Personal conflict activates the behavioral inhibition system (BIS; Hirsh, Mar, & Peterson, 2012), which may make it harder for participants to successfully execute self-control. In this large ( N =337), pre-registered study participants in the conflict condition performed worse on anagrams than participants in the clarity condition, and the effect of condition on anagram performance was mediated by a subjective uncertainty measure of BIS activation. This suggests that BIS activation leads to poor self-control. Moreover, given that conflict is inherent in the exercise of self-control, results point to BIS activation as a mechanism for why initial acts of self-control impair self-control on subsequent, unrelated tasks.

  4. V1 projection zone signals in human macular degeneration depend on task, not stimulus.

    PubMed

    Masuda, Yoichiro; Dumoulin, Serge O; Nakadomari, Satoshi; Wandell, Brian A

    2008-11-01

    We used functional magnetic resonance imaging to assess abnormal cortical signals in humans with juvenile macular degeneration (JMD). These signals have been interpreted as indicating large-scale cortical reorganization. Subjects viewed a stimulus passively or performed a task; the task was either related or unrelated to the stimulus. During passive viewing, or while performing tasks unrelated to the stimulus, there were large unresponsive V1 regions. These regions included the foveal projection zone, and we refer to them as the lesion projection zone (LPZ). In 3 JMD subjects, we observed highly significant responses in the LPZ while they performed stimulus-related judgments. In control subjects, where we presented the stimulus only within the peripheral visual field, there was no V1 response in the foveal projection zone in any condition. The difference between JMD and control responses can be explained by hypotheses that have very different implications for V1 reorganization. In controls retinal afferents carry signals indicating the presence of a uniform (zero-contrast) region of the visual field. Deletion of retinal input may 1) spur the formation of new cortical pathways that carry task-dependent signals (reorganization), or 2) unmask preexisting task-dependent cortical signals that ordinarily are suppressed by the deleted signals (no reorganization).

  5. V1 Projection Zone Signals in Human Macular Degeneration Depend on Task, not Stimulus

    PubMed Central

    Dumoulin, Serge O.; Nakadomari, Satoshi; Wandell, Brian A.

    2008-01-01

    We used functional magnetic resonance imaging to assess abnormal cortical signals in humans with juvenile macular degeneration (JMD). These signals have been interpreted as indicating large-scale cortical reorganization. Subjects viewed a stimulus passively or performed a task; the task was either related or unrelated to the stimulus. During passive viewing, or while performing tasks unrelated to the stimulus, there were large unresponsive V1 regions. These regions included the foveal projection zone, and we refer to them as the lesion projection zone (LPZ). In 3 JMD subjects, we observed highly significant responses in the LPZ while they performed stimulus-related judgments. In control subjects, where we presented the stimulus only within the peripheral visual field, there was no V1 response in the foveal projection zone in any condition. The difference between JMD and control responses can be explained by hypotheses that have very different implications for V1 reorganization. In controls retinal afferents carry signals indicating the presence of a uniform (zero-contrast) region of the visual field. Deletion of retinal input may 1) spur the formation of new cortical pathways that carry task-dependent signals (reorganization), or 2) unmask preexisting task-dependent cortical signals that ordinarily are suppressed by the deleted signals (no reorganization). PMID:18250083

  6. Finding Words in a Language that Allows Words without Vowels

    ERIC Educational Resources Information Center

    El Aissati, Abder; McQueen, James M.; Cutler, Anne

    2012-01-01

    Across many languages from unrelated families, spoken-word recognition is subject to a constraint whereby potential word candidates must contain a vowel. This constraint minimizes competition from embedded words (e.g., in English, disfavoring "win" in "twin" because "t" cannot be a word). However, the constraint would be counter-productive in…

  7. Conceptual Similarity Promotes Generalization of Higher Order Fear Learning

    ERIC Educational Resources Information Center

    Dunsmoor, Joseph E.; White, Allison J.; LaBar, Kevin S.

    2011-01-01

    We tested the hypothesis that conceptual similarity promotes generalization of conditioned fear. Using a sensory preconditioning procedure, three groups of subjects learned an association between two cues that were conceptually similar, unrelated, or mismatched. Next, one of the cues was paired with a shock. The other cue was then reintroduced to…

  8. Readability and Its Effects on Reading Rate, Subjective Judgments of Comprehensibility and Comprehension.

    ERIC Educational Resources Information Center

    Coke, Esther U.

    Prose passages read aloud or silently were rated for pronounceability and comprehensibility. The relationships of text-derived readability indices to reading rate, comprehensibility ratings and comprehension test scores were explored. Reading rate in syllables per minute was unrelated to readability. The high correlation between rate in words per…

  9. 32 CFR 634.9 - Suspension or revocation of driving or privately owned vehicle registration privileges.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... TRAFFIC SUPERVISION Driving Privileges § 634.9 Suspension or revocation of driving or privately owned... revocation of installation driving privileges or POV registrations, for lawful reasons unrelated to traffic... occurring on the installation or in areas subject to military traffic supervision. After a review of...

  10. The Impact of Subjective Age and Stigma on Older Persons

    ERIC Educational Resources Information Center

    Ward, Russell A.

    1977-01-01

    This study investigated the impact of shifts in age identification by older people (N=323) from "middle-aged" to "elderly" within the context of the labeling theory of deviance. Age identification was unrelated to attitudes toward old people and the label "elderly" did not affect self-esteem through any "gate-keeping" process. (Author)

  11. Aging and the Category-Recall Relationship.

    ERIC Educational Resources Information Center

    Worden, Patricia E.; Meggison, David L.

    A sorting-recall procedure was used to investigate how long-term memory in elderly subjects is affected by categorical organization. Sixty-four young adults (average age 20 years) and retirees (average age 67) sorted 48 unrelated words into two, four, six, or eight categories prior to recall. High- and low-frequency lists were tested, a…

  12. Effects of Studying to Music and Post-Study Relaxation on Reading Comprehension.

    ERIC Educational Resources Information Center

    Etaugh, Claire; Ptasnik, Patricia

    1982-01-01

    Twenty female and 20 male college students studied a passage in quiet surroundings or while listening to preferred music and then either relaxed or read unrelated material. Reading comprehension of the passage was facilitated by silent study for subjects who seldom listen to music and by poststudy relaxation. (Author)

  13. [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

    PubMed

    Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

    2008-06-01

    Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

  14. Automatic processing of semantic relations in fMRI: neural activation during semantic priming of taxonomic and thematic categories.

    PubMed

    Sachs, Olga; Weis, Susanne; Zellagui, Nadia; Huber, Walter; Zvyagintsev, Mikhail; Mathiak, Klaus; Kircher, Tilo

    2008-07-07

    Most current models of knowledge organization are based on hierarchical or taxonomic categories (animals, tools). Another important organizational pattern is thematic categorization, i.e. categories held together by external relations, a unifying scene or event (car and garage). The goal of this study was to compare the neural correlates of these categories under automatic processing conditions that minimize strategic influences. We used fMRI to examine neural correlates of semantic priming for category members with a short stimulus onset asynchrony (SOA) of 200 ms as subjects performed a lexical decision task. Four experimental conditions were compared: thematically related words (car-garage); taxonomically related (car-bus); unrelated (car-spoon); non-word trials (car-derf). We found faster reaction times for related than for unrelated prime-target pairs for both thematic and taxonomic categories. However, the size of the thematic priming effect was greater than that of the taxonomic. The imaging data showed signal changes for the taxonomic priming effects in the right precuneus, postcentral gyrus, middle frontal and superior frontal gyri and thematic priming effects in the right middle frontal gyrus and anterior cingulate. The contrast of neural priming effects showed larger signal changes in the right precuneus associated with the taxonomic but not with thematic priming response. We suggest that the greater involvement of precuneus in the processing of taxonomic relations indicates their reduced salience in the knowledge structure compared to more prominent thematic relations.

  15. Monitoring memory errors: the influence of the veracity of retrieved information on the accuracy of judgements of learning.

    PubMed

    Rhodes, Matthew G; Tauber, Sarah K

    2011-11-01

    The current study examined the degree to which predictions of memory performance made immediately or at a delay are sensitive to confidently held memory illusions. Participants studied unrelated pairs of words and made judgements of learning (JOLs) for each item, either immediately or after a delay. Half of the unrelated pairs (deceptive items; e.g., nurse-dollar) had a semantically related competitor (e.g., doctor) that was easily accessible when given a test cue (e.g., nurse-do_ _ _r) and half had no semantically related competitor (control items; e.g., subject-dollar). Following the study phase, participants were administered a cued recall test. Results from Experiment 1 showed that memory performance was less accurate for deceptive compared with control items. In addition, delaying judgement improved the relative accuracy of JOLs for control items but not for deceptive items. Subsequent experiments explored the degree to which the relative accuracy of delayed JOLs for deceptive items improved as a result of a warning to ensure that retrieved memories were accurate (Experiment 2) and corrective feedback regarding the veracity of information retrieved prior to making a JOL (Experiment 3). In all, these data suggest that delayed JOLs may be largely insensitive to memory errors unless participants are provided with feedback regarding memory accuracy.

  16. Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome

    ERIC Educational Resources Information Center

    Mazzone, Luigi; Vassena, Lia; Ruta, Liliana; Mugno, Diego; Galesi, Ornella; Fichera, Marco

    2012-01-01

    Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 [right arrow] qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive,…

  17. On the role of attention and emotion in morality: attentional control modulates unrelated disgust in moral judgments.

    PubMed

    Van Dillen, Lotte F; van der Wal, Reine C; van den Bos, Kees

    2012-09-01

    The emotion of disgust can influence people's moral judgments, even if this emotion objectively is unrelated to the moral judgment in question. The present work demonstrates that attentional control regulates this effect. In three studies, disgust was induced. In an unrelated part of the studies, participants then judged a moral transgression. Disgust resulted in more severe moral judgments when attentional control (either measured by means of individual predisposition or manipulated with experimental control) was weak as opposed to strong (Studies 1-3). Findings further showed that attentional control mediated the positive relation between the intensity of participants' disgust responses and the severity of their moral judgments (Study 2). Moreover, attentional control has its effects through the regulation of affective processing (Study 3). Taken together, the findings suggest that unrelated influences of disgust on moral judgments are contingent on the attention system.

  18. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

    PubMed

    Gonzalez-Rodriguez, J; Pelcastre, E L; Tovilla-Canales, J L; Garcia-Ortiz, J E; Amato-Almanza, M; Villanueva-Mendoza, C; Espinosa-Mattar, Z; Zenteno, J C

    2010-08-01

    Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in monogenic MAC. However, as more numerous samples of MAC subjects would be analysed, a better estimation of the actual involvement of specific MAC-genes could be made. Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects. PCR amplification and direct automated DNA sequencing of all five genes in 50 unrelated subjects. Eight mutations (16% prevalence) were recognised, including four GDF6 mutations (one novel), two novel RAX mutations, one novel OTX2 mutation and one SOX2 mutation. Anophthalmia and nanophthalmia, not previously associated with GDF6 mutations, were observed in two subjects carrying defects in this gene, expanding the spectrum of GDF6-linked ocular anomalies. Our study underscores the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.

  19. [Conscientious objection and the values of medical profession].

    PubMed

    Besio, Mauricio

    2016-03-01

    It is usual to understand conscientious objection as a doctor’s refusal to perform a legitimate intervention, for subjective personal reasons unrelated to medicine. It is then accepted only by respect to professional autonomy and freedom of beliefs. Understood in that way it would be thus reasonable to limit it, curtail it or delete it, since the objector would not be willing to grant benefits that correspond to his medical profession. This work aims to show exactly the opposite, taking as an example the project of law that pretends to decriminalize abortion in some situations in Chile. Is the objector who defends medical activity relying on ethic codes that seek to preserve the values and principles of our profession.

  20. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

    PubMed

    Sensi, Alberto; Ceruti, Stefano; Trevisi, Patrizia; Gualandi, Francesca; Busi, Micol; Donati, Ilaria; Neri, Marcella; Ferlini, Alessandra; Martini, Alessandro

    2011-05-01

    We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome. Copyright © 2011 Wiley-Liss, Inc.

  1. Learning, awareness, and instruction: subjective contingency awareness does matter in the colour-word contingency learning paradigm.

    PubMed

    Schmidt, James R; De Houwer, Jan

    2012-12-01

    In three experiments, each of a set colour-unrelated distracting words was presented most often in a particular target print colour (e.g., "month" most often in red). In Experiment 1, half of the participants were told the word-colour contingencies in advance (instructed) and half were not (control). The instructed group showed a larger learning effect. This instruction effect was fully explained by increases in subjective awareness with instruction. In Experiment 2, contingency instructions were again given, but no contingencies were actually present. Although many participants claimed to be aware of these (non-existent) contingencies, they did not produce an instructed contingency effect. In Experiment 3, half of the participants were given contingency instructions that did not correspond to the correct contingencies. Participants with these false instructions learned the actual contingencies worse than controls. Collectively, our results suggest that conscious contingency knowledge might play a moderating role in the strength of implicit learning. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. BASIC Programming for the Integration of Money, Demand Deposits Creation, and the Hicksian-Keynesian Model.

    ERIC Educational Resources Information Center

    Tom, C. F. Joseph

    Money, banking, and macroeconomic textbooks traditionally present the topics of money, the creation of demand deposits by depository institutions, and the Hicksian-Keynesian Theory of Income and Interest separately, as if they were unrelated. This paper presents an integrated approach to those subjects using computer programs written in BASIC, the…

  3. Individual Differences in the Fan Effect and Working Memory Capacity

    ERIC Educational Resources Information Center

    Bunting, M.F.; Conway, A.R.A.; Heitz, R.P.

    2004-01-01

    In opposition to conceptualizing working memory (WM) in terms of a general capacity, we present four experiments that favor the view that individual differences in WM depend on attentional control. High- and low-WM participants, as assessed by the operation span task, learned unrelated sentences for which the subject and predicate of the sentences…

  4. The Nature, Prevalence and Correlates of Generativity among Men in Middle Career

    ERIC Educational Resources Information Center

    Clark, Mike; Arnold, John

    2008-01-01

    Multiple methods were used to explore the character, contexts, and correlates of generativity among 41 men aged 45-55. Generativity in the role of worker was unrelated to generativity in men's roles as father, citizen and "leisurite". Individuals who were generative in their work reported greater job satisfaction and subjective career success.…

  5. The Circle of Apollonius and Its Applications in Introductory Physics

    NASA Astrophysics Data System (ADS)

    Partensky, Michael B.

    2008-02-01

    The circle of Apollonius is named after the ancient geometrician Apollonius of Perga. This beautiful geometric construct can be helpful when solving some general problems of geometry and mathematical physics, optics, and electricity. Here we discuss two of its applications: localizing an object in space and calculating electric fields. First, we pose an entertaining localization problem to trigger students' interest in the subject. Analyzing this problem, we introduce the circle of Apollonius and show that this geometric technique helps solve the problem in an elegant and intuitive manner. Then we switch to seemingly unrelated problems of calculating the electric fields. We show that the zero equipotential line for two unlike charges is the Apollonius circle for these two charges and use this discovery to find the electric field of a charge positioned near a grounded conductive sphere. Finally, we pose some questions for further examination.

  6. Cilia and Ear.

    PubMed

    Piatti, Gioia; De Santi, Maria Margherita; Torretta, Sara; Pignataro, Lorenzo; Soi, Daniela; Ambrosetti, Umberto

    2017-04-01

    To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation. Otitis media with chronic middle ear effusion (OME) during childhood was reported in 52% of the subjects, no patient had undergone ear surgery, and only 2 patients had an episode of otitis in the last year. Eleven of 23 patients showed normal hearing, 11 had a conductive hearing impairment, and 1 showed a severe sensorineural hearing loss unrelated to the syndrome. The bilateral stapedial reflex was only found in all cases of normoacusia and type A tympanogram, distortion product otoacoustic emissions (DPOAE) were present in 8 patients, and no patient had vestibular alterations. Our study confirms a very frequent prevalence of OME in PCD during childhood. Careful monitoring of otological complications of the syndrome is always desirable, also given the high presence in adults of other manifestations in the upper airways, such as chronic rhinosinusitis and nasal polyposis.

  7. Pleiotropy across academic subjects at the end of compulsory education

    PubMed Central

    Rimfeld, Kaili; Kovas, Yulia; Dale, Philip S.; Plomin, Robert

    2015-01-01

    Research has shown that genes play an important role in educational achievement. A key question is the extent to which the same genes affect different academic subjects before and after controlling for general intelligence. The present study investigated genetic and environmental influences on, and links between, the various subjects of the age-16 UK-wide standardized GCSE (General Certificate of Secondary Education) examination results for 12,632 twins. Using the twin method that compares identical and non-identical twins, we found that all GCSE subjects were substantially heritable, and that various academic subjects correlated substantially both phenotypically and genetically, even after controlling for intelligence. Further evidence for pleiotropy in academic achievement was found using a method based directly on DNA from unrelated individuals. We conclude that performance differences for all subjects are highly heritable at the end of compulsory education and that many of the same genes affect different subjects independent of intelligence. PMID:26203819

  8. CYP2R1 mutations causing vitamin D-deficiency rickets.

    PubMed

    Thacher, Tom D; Levine, Michael A

    2017-10-01

    CYP2R1 is the principal hepatic 25-hydroxylase responsible for the hydroxylation of parent vitamin D to 25-hydroxyvitamin D [25(OH)D]. Serum concentrations of 25(OH)D reflect vitamin D status, because 25(OH)D is the major circulating metabolite of vitamin D. The 1α-hydroxylation of 25(OH)D in the kidney by CYP27B1 generates the fully active vitamin D metabolite, 1,25-dihydroxyvitamin D (1,25(OH) 2 D). The human CYP2R1 gene, located at 11p15.2, has five exons, coding for an enzyme with 501 amino acids. In Cyp2r1-/- knockout mice, serum 25(OH)D levels were reduced by more than 50% compared wild-type mice. Genetic polymorphisms of CYP2R1 account for some of the individual variability of circulating 25(OH)D values in the population. We review the evidence that inactivating mutations in CYP2R1 can lead to a novel form of vitamin D-deficiency rickets resulting from impaired 25-hydroxylation of vitamin D. We sequenced the promoter, exons and intron-exon flanking regions of the CYP2R1 gene in members of 12 Nigerian families with rickets in more than one family member. We found missense mutations (L99P and K242N) in affected members of 2 of 12 families. The L99P mutation had previously been reported as a homozygous defect in an unrelated child of Nigerian origin with rickets. In silico analyses predicted impaired CYP2R1 folding or reduced interaction with substrate vitamin D by L99P and K242N mutations, respectively. In vitro studies of the mutant CYP2R1 proteins in HEK293 cells confirmed normal expression levels but completely absent or markedly reduced 25-hydroxylase activity by the L99P and K242N mutations, respectively. Heterozygous subjects had more moderate biochemical and clinical features of vitamin D deficiency than homozygous subjects. After an oral bolus dose of 50,000 IU of vitamin D 2 or vitamin D 3 , heterozygous subjects had lower increases in serum 25(OH)D than control subjects, and homozygous subjects had minimal increases, supporting a semidominant inheritance of these mutations. No CYP2R1 mutations were found in 27 Nigerian children with sporadic rickets, a cohort of 50 unrelated Nigerian subjects, or in 628 unrelated subjects in the 1000 Genomes Project. We conclude that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. The effect of a wearable device prompting high school students aged 17-18 years to break up periods of prolonged sitting in class.

    PubMed

    Frank, Hanna A; Jacobs, Karen; McLoone, Hugh

    2017-01-01

    Increasingly, evidence shows that prolonged sedentary behavior factors into the health equation on its own, unrelated to weight and periods of intense exercise. In schools, students are required to sit for long periods of time. To investigate whether reminders (via a wearable device) to change posture, can change students' behavior and impact their subjective wellbeing. Ten students of ages 17 to 18 years at a public high school in Bellevue, Washington, USA. To monitor students' behaviors, specially designed wearable devices recorded periods of sitting, standing and moving of participants throughout the school day for one week. During the second week of the study session, reminders were given via the devices providing vibration feedback after 20 minutes of uninterrupted sitting. Subjective wellbeing was evaluated through a daily questionnaire. The reminders given by the devices were effective in changing students' behavior. Students took significantly more breaks from sitting during the week with reminders. However, changes in subjective well-being were inconclusive. The reminders were effective in changing students' behavior, demonstrating that behavior can be changed through individual feedback. Further study is required to explore benefits of such breaks on students' subjective wellbeing, but other studies suggest that such breaks improve their physical health.

  10. Preattentive visual search and perceptual grouping in schizophrenia.

    PubMed

    Carr, V J; Dewis, S A; Lewin, T J

    1998-06-15

    To help determine whether patients with schizophrenia show deficits in the stimulus-based aspects of preattentive processing, we undertook a series of experiments within the framework of feature integration theory. Thirty subjects with a DSM-III-R diagnosis of schizophrenia and 30 age-, gender-, and education-matched normal control subjects completed two computerized experimental tasks, a visual search task assessing parallel and serial information processing (Experiment 1) and a task which examined the effects of perceptual grouping on visual search strategies (Experiment 2). We also assessed current symptomatology and its relationship to task performance. While the schizophrenia subjects had longer reaction times in Experiment 1, their overall pattern of performance across both experimental tasks was similar to that of the control subjects, and generally unrelated to current symptomatology. Predictions from feature integration theory about the impact of varying display size (Experiment 1) and number of perceptual groups (Experiment 2) on the detection of feature and conjunction targets were strongly supported. This study revealed no firm evidence that schizophrenia is associated with a preattentive abnormality in visual search using stimuli that differ on the basis of physical characteristics. While subject and task characteristics may partially account for differences between this and previous studies, it is more likely that preattentive processing abnormalities in schizophrenia may occur only under conditions involving selected 'top-down' factors such as context and meaning.

  11. Vincristine toxicity unrelated to dose.

    PubMed Central

    O'Callaghan, M J; Ekert, H

    1976-01-01

    Four children with vincristine toxicity unrelated to dose are described. Fever, haematological toxicity, and abdominal distension occurred 2-7 days after vincristine was given. Convulsions occurred 6-8 days after vincristine in all 4. Inappropriate secretion of antidiuretic hormone was thought to have occurred in 3 patients. 2 patients died during the acute toxicity phase. Necropsy findings did not show neuronal changes which could be directly ascribed to vincristine. PMID:179476

  12. Efficacy of combination treatment with anti-IgE plus specific immunotherapy in polysensitized children and adolescents with seasonal allergic rhinitis.

    PubMed

    Kuehr, Joachim; Brauburger, Jens; Zielen, Stefan; Schauer, Uwe; Kamin, Wolfgang; Von Berg, Andrea; Leupold, Wolfgang; Bergmann, Karl-Christian; Rolinck-Werninghaus, Claudia; Gräve, Michael; Hultsch, Thomas; Wahn, Ulrich

    2002-02-01

    Specific immunotherapy (SIT) and treatment with monoclonal anti-IgE antibody have complementary modes of action. The purpose of this study was to determine whether combined therapy could provide better efficacy than either treatment alone. We conducted a randomized, double-blinded trial to assess the efficacy and safety of subcutaneously administered anti-IgE (omalizumab) or placebo in children and adolescents with seasonal allergic rhinitis in both a birch pollen season and a grass pollen season (sequential seasons together lasting an average of 84 days). There were 4 treatment arms. Each subject was started on SIT-birch or SIT-grass, and anti-IgE or placebo was started before and maintained during the anticipated pollen seasons (a total of 24 weeks). The primary efficacy variable was symptom load, the sum of daily symptom severity score plus rescue medication use. A total of 221 subjects (intent-to-treat population) aged 6 to 17 years were analyzed for efficacy. Combination therapy reduced symptom load over the 2 pollen seasons by 48% (P <.001) over SIT alone. When analyzed separately by season, the 2 groups receiving unrelated SIT were considered placebo controls. In the grass season, symptom loads were as follows: unrelated (birch) SIT + placebo, 0.89 (reference value); unrelated (birch) SIT + anti-IgE, 0.49 (-45%); SIT-grass + placebo, 0.61 (-32%); SIT-grass + anti-IgE, 0.26 (-71%). Anti-IgE therapy conferred a protective effect independent of the type of allergen. Additional clinical benefit was demonstrated in both pollen seasons, whether there was coverage by SIT or not. This combination might prove useful for the treatment of allergic rhinitis, particularly for polysensitized patients.

  13. Living related versus deceased donor liver transplantation for maple syrup urine disease.

    PubMed

    Feier, Flavia; Schwartz, Ida Vanessa D; Benkert, Abigail R; Seda Neto, Joao; Miura, Irene; Chapchap, Paulo; da Fonseca, Eduardo Antunes; Vieira, Sandra; Zanotelli, Maria Lúcia; Pinto e Vairo, Filippo; Camelo, Jose Simon; Margutti, Ana Vitoria Barban; Mazariegos, George V; Puffenberger, Erik G; Strauss, Kevin A

    2016-03-01

    Maple syrup urine disease (MSUD) is an inherited disorder of branched chain ketoacid (BCKA) oxidation associated with episodic and chronic brain disease. Transplantation of liver from an unrelated deceased donor restores 9-13% whole-body BCKA oxidation capacity and stabilizes MSUD. Recent reports document encouraging short-term outcomes for MSUD patients who received a liver segment from mutation heterozygous living related donors (LRDT). To investigate effects of living related versus deceased unrelated grafts, we studied four Brazilian MSUD patients treated with LRDT who were followed for a mean 19 ± 12 postoperative months, and compared metabolic and clinical outcomes to 37 classical MSUD patients treated with deceased donor transplant. Patient and graft survival for LRDT were 100%. Three of 4 MSUD livers were successfully domino transplanted into non-MSUD subjects. Following LRDT, all subjects resumed a protein-unrestricted diet as mean plasma leucine decreased from 224 ± 306 μM to 143 ± 44 μM and allo-isoleucine decreased 91%. We observed no episodes of hyperleucinemia during 80 aggregate postoperative patient-months. Mean plasma leucine:isoleucine:valine concentration ratios were ~2:1:4 after deceased donor transplant compared to ~1:1:1.5 following LRDT, resulting in differences of predicted cerebral amino acid uptake. Mutant heterozygous liver segments effectively maintain steady-state BCAA and BCKA homeostasis on an unrestricted diet and during most catabolic states, but might have different metabolic effects than grafts from unrelated deceased donors. Neither living related nor deceased donor transplant affords complete protection from metabolic intoxication, but both strategies represent viable alternatives to nutritional management. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. The balanced mind: the variability of task-unrelated thoughts predicts error monitoring

    PubMed Central

    Allen, Micah; Smallwood, Jonathan; Christensen, Joanna; Gramm, Daniel; Rasmussen, Beinta; Jensen, Christian Gaden; Roepstorff, Andreas; Lutz, Antoine

    2013-01-01

    Self-generated thoughts unrelated to ongoing activities, also known as “mind-wandering,” make up a substantial portion of our daily lives. Reports of such task-unrelated thoughts (TUTs) predict both poor performance on demanding cognitive tasks and blood-oxygen-level-dependent (BOLD) activity in the default mode network (DMN). However, recent findings suggest that TUTs and the DMN can also facilitate metacognitive abilities and related behaviors. To further understand these relationships, we examined the influence of subjective intensity, ruminative quality, and variability of mind-wandering on response inhibition and monitoring, using the Error Awareness Task (EAT). We expected to replicate links between TUT and reduced inhibition, and explored whether variance in TUT would predict improved error monitoring, reflecting a capacity to balance between internal and external cognition. By analyzing BOLD responses to subjective probes and the EAT, we dissociated contributions of the DMN, executive, and salience networks to task performance. While both response inhibition and online TUT ratings modulated BOLD activity in the medial prefrontal cortex (mPFC) of the DMN, the former recruited a more dorsal area implying functional segregation. We further found that individual differences in mean TUTs strongly predicted EAT stop accuracy, while TUT variability specifically predicted levels of error awareness. Interestingly, we also observed co-activation of salience and default mode regions during error awareness, supporting a link between monitoring and TUTs. Altogether our results suggest that although TUT is detrimental to task performance, fluctuations in attention between self-generated and external task-related thought is a characteristic of individuals with greater metacognitive monitoring capacity. Achieving a balance between internally and externally oriented thought may thus aid individuals in optimizing their task performance. PMID:24223545

  15. Spicing Things up by Adding Color and Relieving Pain: The Use of "Napoleon's Buttons" in Organic Chemistry

    ERIC Educational Resources Information Center

    Bucholtz, Kevin M.

    2011-01-01

    For some students, organic chemistry can be a distant subject and unrelated to any courses they have seen in their college careers. To develop a more contextual learning experience in organic chemistry, an additional text, "Napoleon's Buttons: 17 Molecules That Changed History," by Penny Le Couteur and Jay Burreson, was incorporated as a…

  16. Can Victoria's Secret Change the Future? A Subjective Time Perception Account of Sexual-Cue Effects on Impatience

    ERIC Educational Resources Information Center

    Kim, B. Kyu; Zauberman, Gal

    2013-01-01

    Sexual cues influence decisions not only about sex, but also about unrelated outcomes such as money. In the presence of sexual cues, individuals are more "impatient" when making intertemporal monetary tradeoffs, choosing smaller immediate amounts over larger delayed amounts. Previous research has emphasized the power of sexual cues to induce a…

  17. An fMRI Investigation of the Neural Correlates Underlying the Processing of Novel Metaphoric Expressions

    ERIC Educational Resources Information Center

    Mashal, N.; Faust, M.; Hendler, T.; Jung-Beeman, M.

    2007-01-01

    The neural networks associated with processing related pairs of words forming literal, novel, and conventional metaphorical expressions and unrelated pairs of words were studied in a group of 15 normal adults using fMRI. Subjects read the four types of linguistic expressions and decided which relation exists between the two words (metaphoric,…

  18. Exploring nutrition education resources and barriers, and nutrition knowledge in teachers in California.

    PubMed

    Jones, Anna Marie; Zidenberg-Cherr, Sheri

    2015-01-01

    To determine barriers to nutrition education, nutrition education resources used, and the relationship between nutrition knowledge and whether public school teachers in California teach nutrition in the classroom. A total of 102 teachers in California participated in a Web-based survey about nutrition education barriers, resources used to plan nutrition lessons, and factors that would encourage inclusion of nutrition. A validated questionnaire was used to assess nutrition knowledge. Analyses included ordinary least-squares regression. Common barriers were lack of instructional time and unrelated subject. Teachers were unaware of many nutrition education resources. Nutrition knowledge was not associated with nutrition lessons but was positively associated with teaching high school (β = 5.13; P < .05) and female gender (β = 6.78; P < .05), and negatively associated with identifying as Hispanic or Latino (β = -15.50; P < .001). Barriers of time and lack of unrelated subject matter are difficult to address but lack of awareness of resources indicates that promotion of existing resources may encourage teachers to provide nutrition education. Larger studies are needed to determine whether this holds true in a broader sample. Copyright © 2015 Society for Nutrition Education and Behavior. Published by Elsevier Inc. All rights reserved.

  19. Measurement of tag confidence in user generated contents retrieval

    NASA Astrophysics Data System (ADS)

    Lee, Sihyoung; Min, Hyun-Seok; Lee, Young Bok; Ro, Yong Man

    2009-01-01

    As online image sharing services are becoming popular, the importance of correctly annotated tags is being emphasized for precise search and retrieval. Tags created by user along with user-generated contents (UGC) are often ambiguous due to the fact that some tags are highly subjective and visually unrelated to the image. They cause unwanted results to users when image search engines rely on tags. In this paper, we propose a method of measuring tag confidence so that one can differentiate confidence tags from noisy tags. The proposed tag confidence is measured from visual semantics of the image. To verify the usefulness of the proposed method, experiments were performed with UGC database from social network sites. Experimental results showed that the image retrieval performance with confidence tags was increased.

  20. Masked Morphological Priming in German-Speaking Adults and Children: Evidence from Response Time Distributions

    PubMed Central

    Hasenäcker, Jana; Beyersmann, Elisabeth; Schroeder, Sascha

    2016-01-01

    In this study, we looked at masked morphological priming effects in German children and adults beyond mean response times by taking into account response time distributions. We conducted an experiment comparing suffixed word primes (kleidchen-KLEID), suffixed nonword primes (kleidtum-KLEID), nonsuffixed nonword primes (kleidekt-KLEID), and unrelated controls (träumerei-KLEID). The pattern of priming in adults showed facilitation from suffixed words, suffixed nonwords, and nonsuffixed nonwords relative to unrelated controls, and from both suffixed conditions relative to nonsuffixed nonwords, thus providing evidence for morpho-orthographic and embedded stem priming. Children also showed facilitation from real suffixed words, suffixed nonwords, and nonsuffixed nonwords compared to unrelated words, but no difference between the suffixed and nonsuffixed conditions, thus suggesting that German elementary school children do not make use of morpho-orthographic segmentation. Interestingly, for all priming effects, a shift of the response time distribution was observed. Consequences for theories of morphological processing are discussed. PMID:27445899

  1. Toward a synthesis of cognitive biases: how noisy information processing can bias human decision making.

    PubMed

    Hilbert, Martin

    2012-03-01

    A single coherent framework is proposed to synthesize long-standing research on 8 seemingly unrelated cognitive decision-making biases. During the past 6 decades, hundreds of empirical studies have resulted in a variety of rules of thumb that specify how humans systematically deviate from what is normatively expected from their decisions. Several complementary generative mechanisms have been proposed to explain those cognitive biases. Here it is suggested that (at least) 8 of these empirically detected decision-making biases can be produced by simply assuming noisy deviations in the memory-based information processes that convert objective evidence (observations) into subjective estimates (decisions). An integrative framework is presented to show how similar noise-based mechanisms can lead to conservatism, the Bayesian likelihood bias, illusory correlations, biased self-other placement, subadditivity, exaggerated expectation, the confidence bias, and the hard-easy effect. Analytical tools from information theory are used to explore the nature and limitations that characterize such information processes for binary and multiary decision-making exercises. The ensuing synthesis offers formal mathematical definitions of the biases and their underlying generative mechanism, which permits a consolidated analysis of how they are related. This synthesis contributes to the larger goal of creating a coherent picture that explains the relations among the myriad of seemingly unrelated biases and their potential psychological generative mechanisms. Limitations and research questions are discussed.

  2. Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

    PubMed

    López-Hernández, Berenice; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Benítez-Granados, Jesús; Zenteno, Juan Carlos; Villegas-Ruiz, Vanessa; Calzada-León, Raúl; Soderlund, Daniela; Canto, Patricia

    2018-04-04

    The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed. The MLPA analysis demonstrated that one patient presented a heterozygous duplication of the entire SOX9 coding region (above 1.3 value of peak ratio), as well as at least a ~ 483 kb upstream duplication. Moreover, no duplication of other SOX9 probes was observed corresponding to the region between -1007 and -1500 kb upstream. A qRT-PCR analysis showed a duplication of at least -581 kb upstream and ~1.63 kb of the coding region that encompasses exon 3. The limits of the duplication were mapped approximately from ~71539762 to 72122741 of Chr17. No molecular abnormalities were found in the remaining nine patients. This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene. Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  3. Abnormal IgG4 antibody response to aeroallergens in allergic patients.

    PubMed

    Jeannin, P; Delneste, Y; Tillie-Leblond, I; Wallaert, B; carlier, A; Pestel, J; Tonnel, A B

    1994-01-01

    Various studies have suggested the involvement of immunoglobulin G4 (IgG4) antibodies (Ab) in the physiopathology of allergic disorders. Recently, an abnormal IgG4 Ab production in response to immunization has been reported in some atopic patients. Thus, in order to evidence in allergic patients, a potential abnormal IgG4 Ab response to aeroallergens following natural exposure, we compared, in 34 patients sensitive to Dermatophagoides pteronyssinus and in 16 healthy subjects, the IgG4 Ab response to D. pteronyssinus, grass pollen and cat dander, using a solid-phase radioimmunoassay. Since some patients were also sensitive to grass pollen and/or to cat dander, we analyzed, in all patients, the IgG4 Ab responses both towards the allergen(s) they were sensitive to (sensitizing allergen) or not (unrelated allergen). The results showed that 90% of the patients produced levels of antisensitizing allergen(s) IgG4 Ab significantly higher than the controls; this IgG4 Ab response was correlated with the corresponding specific IgE Ab level. In addition, among these patients, around 40% presented high levels of IgG4 Ab to the unrelated allergen(s). Thus, in allergic patients, while specific IgE Ab define the nature of the sensitizing allergen, the presence of IgG4 Ab directed against various allergens seems in relation with an abnormal isotype regulation associated with atopic disorders.

  4. Matched unrelated donor allogeneic transplantation provides comparable long-term outcome to HLA-identical sibling transplantation in relapsed diffuse large B-cell lymphoma.

    PubMed

    Avivi, I; Canals, C; Vernant, J-P; Wulf, G; Nagler, A; Hermine, O; Petersen, E; Yakoub-Agha, I; Craddock, C; Schattenberg, A; Niederwieser, D; Thomson, K; Blaise, D; Attal, M; Pfreundschuh, M; Passweg, J; Russell, N; Dreger, P; Sureda, A

    2014-05-01

    The objective of this retrospective analysis was to compare outcomes of patients with diffuse large B-cell lymphoma (DLBCL) who received either a matched sibling (sib) or an unrelated donor (URD) allogeneic hematopoietic cell transplantation (allo-HCT). Long-term outcome of 172 DLBCL patients receiving URD-HCT between 2000 and 2007 and reported to the European Group for Blood and Marrow Transplantation, was compared with that of 301 subjects, allografted from sib-HCT. With a median follow-up of 45 months, 3-year PFS approached 35% for both groups; overall survival (OS) was 42% for sib-HCT versus 37% for URD (NS). Multivariate analyses confirmed that donor type was not associated with differences in non-relapse mortality (NRM), relapse rate (RR), PFS or OS. Poor performance status (PS) and refractory disease adversely affected PFS and OS. Prior auto-SCT and multiple previous therapies predicted for shorter PFS. NRM was adversely affected by older age (⩾50 years), poor PS and refractory disease, and RR by time from diagnosis to allo-HCT of <36 months, prior auto-SCT, refractory disease, poor PS and in vivo T-cell depletion with alemtuzumab. This large study shows for the first time that URD-HCT is not inferior to sib-HCT, providing a reasonable therapeutic approach for DLBCL patients, having no HLA-identical sibling available.

  5. The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Yu, Chang-En; Nemens, E.; Olson, J.M.

    1994-04-01

    The chromosome 19 apolipoprotein E/CI/CII gene cluster was examined for evidence of linkage to a familial Alzheimer disease (FAD) locus. The family groups studied were Volga German (VG), early-onset non-VG (ENVG; mean age at onset <60 years), and late-onset families. A genetic association was observed between apolipoprotein E (ApoE) allele E4 and FAD in late-onset families; the E4 allele frequency was .51 in affected subjects, .37 in at-risk subjects, .11 in spouses, and .19 in unrelated controls. The differences between the E4 frequencies in affected subjects versus controls and in at-risk subjects versus controls were highly significant. No association betweenmore » the E4 allele and FAD was observed in the ENVG or VG groups. A statistically significant allelic association between E4 and AD was also observed in a group of unrelated subjects; the E4 frequency was .26 in affected subjects, versus .19 in controls (Z[sub SND] = 2.20, P < .03). Evidence of linkage of ApoE and ApoCII to FAD was examined by maximum-likelihood methods, using three models and assuming autosomal dominant inheritance: (1) age-dependent penetrance, (2) extremely low (1%) penetrance, and (3) age-dependent penetrance corrected for sporadic Alzheimer disease (AD). For ApoCII in late-onset families, results for close linkage were negative, and only small positive lod-score-statistic (Z) values were obtained. For ApoE in late-onset kindreds, positive Z values were obtained when either allele frequencies from controls or allele frequencies from the families were used. When linkage disequilibrium was incorporated into the analysis, the Z values increased. For the ENVG group, results for ApoE and ApoCII were uniformly negative. Affected-pedigree-member analysis gave significant results for the late-onset kindreds, for ApoE, when control allele frequencies were used but not when allele frequencies were derived from the families. 58 refs., 6 tabs.« less

  6. Enteral Nutrition Is a Risk Factor for Airway Complications in Subjects Undergoing Noninvasive Ventilation for Acute Respiratory Failure.

    PubMed

    Kogo, Mariko; Nagata, Kazuma; Morimoto, Takeshi; Ito, Jiro; Sato, Yuki; Teraoka, Shunsuke; Fujimoto, Daichi; Nakagawa, Atsushi; Otsuka, Kojiro; Tomii, Keisuke

    2017-04-01

    Early enteral nutrition is recommended for mechanically ventilated patients in several studies and guidelines. In contrast, the effects of early enteral nutrition on noninvasive ventilation (NIV) have not been investigated extensively. The lack of an established method of airway protection suggests that enteral nutrition administration to these patients could increase airway complications and worsen outcomes. Between January 2007 and January 2015, 150 patients were admitted to our respiratory department for acute respiratory failure and received NIV for >48 h. Of these, 107 subjects incapable of oral intake were retrospectively analyzed. Clinical background and complications were compared in subjects who did and did not receive enteral nutrition. Sixty of the 107 subjects (56%) incapable of oral intake who received NIV also received enteral nutrition. Serum albumin concentration was significantly lower in subjects who received enteral nutrition than in those who did not (mean 2.7 ± 0.68 mg/dL vs 3.0 ± 0.75 mg/dL, P = .048). The rate of airway complications was significantly higher (53% [32/60] vs 32% [15/47], P = .03), and median NIV duration was significantly longer (16 [interquartile range 7-43] d vs 8 [5-20] d, P = .02) in subjects who received enteral nutrition than in those who did not. Multivariate analysis showed that enteral nutrition was unrelated to in-hospital mortality. Among subjects receiving NIV, enteral nutrition was associated with increased risk of airway complications but did not affect mortality. Enteral nutrition should be carefully considered in these patients. Copyright © 2017 by Daedalus Enterprises.

  7. Accidental Composition: How the Ph.D. Machine Fails Our Students

    ERIC Educational Resources Information Center

    Vance, Lash K.

    2018-01-01

    Imagine spending six or more years diligently training in a particular subject to only apply for a job in an unrelated field. Most everything you know will never be used; your education remains for your own edification, locked in a dusty wardrobe of the mind. Add to this a lack of awareness of how to do your new job. This is the picture of the…

  8. Hand Preference for Writing and Associations with Selected Demographic and Behavioral Variables in 255,100 Subjects: The BBC Internet Study

    ERIC Educational Resources Information Center

    Peters, Michael; Reimers, Stian; Manning, John T.

    2006-01-01

    In an Internet study unrelated to handedness, 134,317 female and 120,783 male participants answered a graded question as to which hand they preferred for writing. This allowed determination of hand preference patterns across 7 ethnic groups. Sex differences in left-handedness were found in 4 ethnic groups, favoring males, while no significant sex…

  9. Using 50 K single nucleotide polymorphisms to elucidate genomic architecture of line 1 Hereford cattle

    USDA-ARS?s Scientific Manuscript database

    Hereford is a major beef breed in the USA and has been subjected to selection for a variety of goals. A sub-population, known as Line 1 (L1), was established in 1934 by joining two paternal half-sib bulls with 50 unrelated females. L1 has since been maintained as a closed population and selected p...

  10. Transient and sustained neural responses to death-related linguistic cues

    PubMed Central

    Shi, Zhenhao

    2013-01-01

    Recent research showed that perception of death-related vs death-unrelated linguistic cues produced increased frontoparietal activity but decreased insular activity. This study investigated (i) whether the increased frontoparietal and decreased insular activities are, respectively, associated with transient trial-specific processes of death-related linguistic cues and sustained death-related thought during death-relevance judgments on linguistic cues and (ii) whether the neural activity underlying death-related thought can predict individuals’ dispositional death anxiety. Participants were presented with death-related/unrelated words, life-related/unrelated words, and negative-valence/neutral words in separate sessions. Participants were scanned using functional magnetic resonance imaging while performing death-relevance, life-relevance, and valence judgments on the words, respectively. The contrast of death-related vs death-unrelated words during death-relevance judgments revealed transient increased activity in the left inferior parietal lobule, the right frontal eye field, and the right superior parietal lobule. The contrast of death-relevance judgments vs life-relevance/valence judgments showed decreased activity in the bilateral insula. The sustained insular activity was correlated with dispositional death anxiety, but only in those with weak transient frontoparietal responses to death-related words. Our results dissociate the transient and sustained neural responses to death-related linguistic cues and suggest that the combination of the transient and sustained neural activities can predict dispositional death anxiety. PMID:22422804

  11. Seeing for speaking: Semantic and lexical information provided by briefly presented, naturalistic action scenes

    PubMed Central

    Bölte, Jens; Hofmann, Reinhild; Meier, Claudine C.; Dobel, Christian

    2018-01-01

    At the interface between scene perception and speech production, we investigated how rapidly action scenes can activate semantic and lexical information. Experiment 1 examined how complex action-scene primes, presented for 150 ms, 100 ms, or 50 ms and subsequently masked, influenced the speed with which immediately following action-picture targets are named. Prime and target actions were either identical, showed the same action with different actors and environments, or were unrelated. Relative to unrelated primes, identical and same-action primes facilitated naming the target action, even when presented for 50 ms. In Experiment 2, neutral primes assessed the direction of effects. Identical and same-action scenes induced facilitation but unrelated actions induced interference. In Experiment 3, written verbs were used as targets for naming, preceded by action primes. When target verbs denoted the prime action, clear facilitation was obtained. In contrast, interference was observed when target verbs were phonologically similar, but otherwise unrelated, to the names of prime actions. This is clear evidence for word-form activation by masked action scenes. Masked action pictures thus provide conceptual information that is detailed enough to facilitate apprehension and naming of immediately following scenes. Masked actions even activate their word-form information–as is evident when targets are words. We thus show how language production can be primed with briefly flashed masked action scenes, in answer to long-standing questions in scene processing. PMID:29652939

  12. Future costs in cost effectiveness analysis.

    PubMed

    Lee, Robert H

    2008-07-01

    This paper resolves several controversies in CEA. Generalizing [Garber, A.M., Phelps, C.E., 1997. Economic foundations of cost-effectiveness analysis. Journal of Health Economics 16 (1), 1-31], the paper shows accounting for unrelated future costs distorts decision making. After replicating [Meltzer, D., 1997. Accounting for future costs in medical cost-effectiveness analysis. Journal of Health Economics 16 (1), 33-64] quite different conclusion that unrelated future costs should be included in CEA, the paper shows that Meltzer's findings result from modeling the budget constraint as an annuity, which is problematic. The paper also shows that related costs should be included in CEA. This holds for a variety of models, including a health maximization model. CEA should treat costs in the manner recommended by Garber and Phelps.

  13. Twenty Years of Public Health Research: Inclusion of Lesbian, Gay, Bisexual, and Transgender Populations

    PubMed Central

    Boehmer, Ulrike

    2002-01-01

    Objectives. This study determined to what extent lesbian, gay, bisexual, and transgender (LGBT) populations have been studied over the past 20 years of public health research. Methods. From MEDLINE English-language articles on human subjects published between 1980 and 1999, I identified articles that included LGBT individuals. The abstracts were analyzed with a coding procedure that categorized the content by topic, sexual orientation, and race/ethnicity. Results. LGBT issues were addressed by 3777 articles, or 0.1% of all Medline articles; 61% of the articles were disease-specific, and 85% omitted reference to race/ethnicity. Research unrelated to sexually transmitted diseases addressed lesbians and gay men with similar frequency, whereas bisexual persons were less frequently considered, and the least amount of research focused on transgender individuals. Conclusions. Findings supported that LGBT issues have been neglected by public health research and that research unrelated to sexually transmitted diseases is lacking. PMID:12084696

  14. Odors as cues for orientation to mothers by weanling Virginia opossums

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Holmes, D.J.

    1992-12-01

    Three experiments were conducted to investigate whether whole-body and pouch odors facilitate social cohesion between young Virginia opossums and their mothers just prior to weaning. In experiment 1, young oriented toward plastic buckets containing their mothers, directing significantly higher levels of investigative behavior and more distress vocalizations toward them than toward buckets containing unrelated lactating females. In experiment 2, young oriented toward and investigated empty buckets containing whole-body odors of their mothers more than empty buckets containing odors of other females. Similarly, more investigative behavior was directed toward plastic bucket lids containing pouch odors from subjects mothers than toward pouchmore » odors from unrelated females in experiment 3. These results suggest that social odors help young didelphid marsupials maintain contact with their mothers, as in other mammals, and that whole-body and pouch gland odors are important chemical signals in this nongregarious species.« less

  15. Bilateral Malignant Seminomas in Two Unrelated, Aged Trumpeter Hornbills (Bycanistes buccinator).

    PubMed

    Wernick, Morena B; Tobias, Jeremy R; Moeller, Robert B; Barnes, John; Palmieri, Chiara; Shivaprasad, H L

    2015-06-01

    Seminomas occur infrequently in birds. Two cases of bilateral malignant seminomas in unrelated trumpeter hornbills (Bycanistes buccinator) are described. Case 1 was a 22-year-old trumpeter hornbill submitted for necropsy because of sudden death at a zoo in California. Postmortem examination revealed multiple masses within the body cavity, 2 of which replaced both testes. Case 2 was a 19-year-old trumpeter hornbill at a zoo in North Carolina that underwent exploratory surgery for a suspected gastrointestinal obstruction. Both testes were diffusely enlarged, compressing and replacing the adjacent kidneys. In both birds, the masses were composed of discrete, round to polyhedral cells, typical of seminomas. Examination of the ancestry of the hornbills showed they were unrelated to each other, suggesting a potential predisposition for these birds to develop seminomas.

  16. Heritability of Risk for Sudden Cardiac Arrest in ESRD

    PubMed Central

    Newton-Cheh, Christopher; Gusella, James F.; Maddux, Franklin W.

    2015-01-01

    Patients on dialysis are 20 times more likely to have a cardiac arrest compared with the general population. We considered whether inherited factors associate with cardiac arrest among patients on dialysis. From a sample of 647,457 patients on chronic dialysis, we identified 5117 pairs of patients who came from the same family. These patients were each matched to a control subject from the same population. McNemar’s tests were used to compare the risk of cardiac arrest between the familial related and unrelated pairs. Genetically related family members who did not cohabitate had an odds ratio of 1.88 (95% confidence interval [95% CI], 1.25 to 2.84) for cardiac arrest compared with their phenotypically matched unrelated controls. Genetically related family members who lived together in the same environment had an odds ratio of 1.66 (95% CI, 1.20 to 2.28). Spouses, who are genetically unrelated but live together in the same environment, had an odds ratio of 0.95 (95% CI, 0.60 to 1.59) for cardiac arrest. The risk of cardiac arrest in patients on dialysis may be attributable to inherited factors. Additional studies are needed to identify such candidate genes that modify cardiovascular risk in ESRD. PMID:25882830

  17. Cognitive switching processes in young people with attention-deficit/hyperactivity disorder.

    PubMed

    Oades, Robert D; Christiansen, Hanna

    2008-01-01

    Patients with attention-deficit/hyperactivity disorder (ADHD) can be slow at switching between stimuli, or between sets of stimuli to control behaviour appropriate to changing situations. We examined clinical and experimental parameters that may influence the speed of such processes measured in the trail-making (TMT) and switch-tasks in cases with ADHD combined type, their non-affected siblings and unrelated healthy controls. The latency for completion of the trail-making task controlling for psychomotor processing (TMT-B-A) was longer for ADHD cases, and correlated with Conners' ratings of symptom severity across all subjects. The effect decreased with age. Switch-task responses to questions of "Which number?" and "How many?" between sets of 1/111 or 3/333 elicited differential increases in latency with condition that affected all groups. But there was evidence for increased symptom-related intra-individual variability among the ADHD cases, and across all subjects. Young siblings showed familiality for some measures of TMT and switch-task performance but these were modest. The potential influences of moderator variables on the efficiency of processing stimulus change rather than the speed of processing are discussed.

  18. Association between the epidermal growth factor gene and intelligence in major depression patients.

    PubMed

    Tian, Wen-min; Zhang, Ke-ran; Zhang, Juan; Shen, Yan; Xu, Qi

    2010-06-01

    To study the association between the epidermal growth factor (EGF) gene and intelligence in patients with major depression. Intelligence measurement using Wechsler Adult Intelligence Scale (WAIS) was performed on 120 unrelated patients with major depression and 46 control subjects. Blood was collected from all subjects for extraction of genomic DNA. Four single nucleotide polymorphisms (SNPs) in the EGF gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI- TOF-MS). Mean scores of both score lang and score task, two subtests in WAIS, differed significantly between major depression patients and controls (P<0.0001). Quantitative trait analysis showed that the genotype of rs2250724 was closely associated with score lang and score task in major depression patients. The associations were still significant after 10 000 permutations. Although preliminary, our results provide evidence for association between the EGF gene and intelligence in patients with major depression. Genetic variation in the EGF gene may increase the susceptibility of major depression.

  19. The psychological distance of memories: Examining causal relations with mood and self-esteem in young, middle-aged and older adults.

    PubMed

    Demiray, Burcu; Freund, Alexandra M

    2017-03-01

    Three studies examined the self-enhancement function of autobiographical memory (measured with subjective temporal distance of memories). Participants recalled a memory of an attained and a failed goal and rated the subjective distance between each memory and the present. Study 1 showed that young adults with higher self-esteem felt closer to memories of attained goals and farther from failure memories than those with lower self-esteem. In Study 2, young, middle-aged and older adults with higher self-esteem felt closer to success memories, whereas self-esteem was unrelated to the temporal distance of failure memories. In both studies, feeling closer to success memories (and far from failure) led to enhanced mood. In Study 3, state self-esteem was experimentally manipulated. The manipulation had no effect on young and older adults, but middle-aged adults whose self-esteem was decreased, felt closer to success memories than failure memories. Results are discussed in relation to the temporal self-appraisal theory. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Emotional complexity and its effect on psychological distress as a function of chronological age and subjective distance-to-death.

    PubMed

    Shrira, Amit; Bodner, Ehud; Palgi, Yuval

    2015-01-01

    In light of mixed evidence regarding the associations between age, emotional complexity, and psychological distress, this study examined emotional complexity and its effect on psychological distress as a function of age and subjective distance-to-death. A sample of 188 participants (age range = 29-100) rated their subjective distance-to-death and psychological distress, and reported their emotions across 14 days. Emotional complexity was unrelated to age, but negatively related to feeling closer to death. Moreover, emotional complexity was negatively related to psychological distress among those feeling closer to death. Results suggest that when death is perceived to be nearer, emotional complexity is hampered, yet becomes relevant in buffering psychological distress.

  1. The Contagion of Interstate Violence: Reminders of Historical Interstate (but Not Intrastate) Violence Increase Support for Future Violence Against Unrelated Third-Party States.

    PubMed

    Li, Mengyao; Leidner, Bernhard; Euh, Hyun; Choi, Hoon-Seok

    2016-08-01

    Five experiments investigated the war contagion phenomenon in the context of international relations, hypothesizing that reminders of past inter- (but not intra-) state war will increase support for future, unrelated interstate violence. After being reminded of the Korean War as an interstate rather than intrastate conflict, South Koreans showed stronger support for violent responses to new, unrelated interstate tensions (Study 1). Replicating this war contagion effect among Americans, we demonstrated that it was mediated by heightened perceived threat from, and negative images of, a fictitious country unrelated to the past war (Study 2), and moderated by national glorification (Study 3). Study 4, using another international conflict in the U.S. history, provided further conceptual replication. Finally, Study 5 included a baseline in addition to the inter- versus intrastate manipulation, yielding further support for the generalized effect of past interstate war reminders on preferences for aggressive approaches to new interstate tensions. © 2016 by the Society for Personality and Social Psychology, Inc.

  2. Compared to controls, patients with ruptured aneurysm and surgical intervention show increase in symptoms of depression and lower cognitive performance, but their objective sleep is not affected.

    PubMed

    Brand, Serge; Zimmerer, Stefan; Kalak, Nadeem; Planta, Sandra Von; Schwenzer-Zimmerer, Katja; Müller, Andreas Albert; Zeilhofer, Hans-Florian; Holsboer-Trachsler, Edith

    2015-02-01

    Patients with aneurysmal subarachnoid haemorrhage (aSAH) have impaired sleep and cognitive performance together with more difficulties in social and everyday life. Hypocortisolism has also been reported. However, a study assessing all dimensions between aSAH severity, objective and subjective sleep, cortisol secretion, cognitive performance and social and everyday life has not so far been performed. The aim of the present study was therefore two-fold: (1) to assess, in a sample of patients with aSAH, objective and subjective sleep, cognitive functioning, social skills and cortisol secretion concurrently, and (2) to compare patients on these variables with a control group. Twenty-one patients (17 females; mean age: 58.80 years) with ruptured aneurysm and surgical intervention and 21 (14 females; mean age: 58.90 years) age- and gender-matched controls took part in the study. Assessments covered objective sleep-EGG recordings, subjective sleep, salivary cortisol analysis, and psychological functioning including memory performance, mood, and emotion recognition. Compared to healthy controls, patients had lower scores for verbal memory performance and emotion recognition; they also reported more marked depressive symptoms and complained of poor sleep. However, no differences were found for objective sleep or cortisol secretion. Subjective and objective sleep, cortisol secretion and psychological functioning were unrelated. Findings indicate that patients with aSAH face psychological rather than physiological issues.

  3. Predictors of Patterns of Alcohol-Related Blackouts Over Time in Youth From the Collaborative Study of the Genetics of Alcoholism: The Roles of Genetics and Cannabis

    PubMed Central

    Schuckit, Marc A.; Smith, Tom L.; Shafir, Alexandra; Clausen, Peyton; Danko, George; Gonçalves, Priscila Dib; Anthenelli, Robert M.; Chan, Grace; Kuperman, Samuel; Hesselbrock, Michie; Hesselbrock, Victor; Kramer, John; Bucholz, Kathleen K.

    2017-01-01

    Objective: Alcohol-related blackouts (ARBs) are anterograde amnesias related to heavy alcohol intake seen in about 50% of drinkers. Although a major determinant of ARBs relates to blood alcohol concentrations, additional contributions come from genetic vulnerabilities and possible impacts of cannabis use disorders (CUDs). We evaluated relationships of genetics and cannabis use to latent class trajectories of ARBs in 829 subjects from the Collaborative Study of the Genetics of Alcoholism (COGA). Method: The number of ARBs experienced every 2 years from subjects with average ages of 18 to 25 were entered into a latent class growth analysis in Mplus, and resulting class membership was evaluated in light of baseline characteristics, including CUDs. Correlations of number of ARBs across assessments were also compared for sibling pairs versus unrelated subjects. Results: Latent class growth analysis identified ARB-based Classes 1 (consistent low = 42.5%), 2 (moderate low = 28.3%), 3 (moderate high = 22.9%), and 4 (consistent high = 6.3%). A multinomial logistic regression analysis within latent class growth analysis revealed that baseline CUDs related most closely to Classes 3 and 4. The number of ARBs across time correlated .23 for sibling pairs and -.10 for unrelated subjects. Conclusions: Baseline CUDs related to the most severe latent ARB course over time, even when considered along with other trajectory predictors, including baseline alcohol use disorders and maximum number of drinks. Data indicated significant roles for genetic factors for alcohol use disorder patterns over time. Future research is needed to improve understanding of how cannabis adds to the ARB risk and to find genes that contribute to risks for ARBs among drinkers. PMID:27936363

  4. Chimerism and tolerance without GVHD or engraftment syndrome in HLA-mismatched combined kidney and hematopoietic stem cell transplantation.

    PubMed

    Leventhal, Joseph; Abecassis, Michael; Miller, Joshua; Gallon, Lorenzo; Ravindra, Kadiyala; Tollerud, David J; King, Bradley; Elliott, Mary Jane; Herzig, Geoffrey; Herzig, Roger; Ildstad, Suzanne T

    2012-03-07

    The toxicity of chronic immunosuppressive agents required for organ transplant maintenance has prompted investigators to pursue approaches to induce immune tolerance. We developed an approach using a bioengineered mobilized cellular product enriched for hematopoietic stem cells (HSCs) and tolerogenic graft facilitating cells (FCs) combined with nonmyeloablative conditioning; this approach resulted in engraftment, durable chimerism, and tolerance induction in recipients with highly mismatched related and unrelated donors. Eight recipients of human leukocyte antigen (HLA)-mismatched kidney and FC/HSC transplants underwent conditioning with fludarabine, 200-centigray total body irradiation, and cyclophosphamide followed by posttransplant immunosuppression with tacrolimus and mycophenolate mofetil. Subjects ranged in age from 29 to 56 years. HLA match ranged from five of six loci with related donors to one of six loci with unrelated donors. The absolute neutrophil counts reached a nadir about 1 week after transplant, with recovery by 2 weeks. Multilineage chimerism at 1 month ranged from 6 to 100%. The conditioning was well tolerated, with outpatient management after postoperative day 2. Two subjects exhibited transient chimerism and were maintained on low-dose tacrolimus monotherapy. One subject developed viral sepsis 2 months after transplant and experienced renal artery thrombosis. Five subjects experienced durable chimerism, demonstrated immunocompetence and donor-specific tolerance by in vitro proliferative assays, and were successfully weaned off all immunosuppression 1 year after transplant. None of the recipients produced anti-donor antibody or exhibited engraftment syndrome or graft-versus-host disease. These results suggest that manipulation of a mobilized stem cell graft and nonmyeloablative conditioning represents a safe, practical, and reproducible means of inducing durable chimerism and donor-specific tolerance in solid organ transplant recipients.

  5. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Brown, T.R.; Lubahn, D.B.; Wilson, E.M.

    1988-11-01

    The cloning of a cDNA for the human androgen receptor gene has resulted in the availability for cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5' region of the gene. The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonuclease digestion of genomic DNA from human subjects with complete androgen insensitivity syndrome (AIS). In this investigation, the authors considered only patients presenting complete AIS and with the androgen receptor (-) form as the mostmore » probably subjects to show a gene deletion. One subject from each of six unrelated families with the receptor (-) form of complete AIS and 10 normal subjects were studied. In the 10 normal subjects and in 5 of the 6 patients, identical DNA restriction fragment patterns were observed with EcoRI and BamHI. Analysis of other members of this family confirmed the apparent gene deletion. The data provide direct proof that complete AIS in some families can result from a deletion of the androgen receptor structural gene. However, other families do not demonstrate such a deletion, suggesting that point mutations may also result in the receptor (-) form of complete AIS, adding further to the genetic heterogeneity of this syndrome.« less

  6. The reliability and clinical correlates of figure-ground perception in schizophrenia.

    PubMed

    Malaspina, Dolores; Simon, Naomi; Goetz, Raymond R; Corcoran, Cheryl; Coleman, Eliza; Printz, David; Mujica-Parodi, Lilianne; Wolitzky, Rachel

    2004-01-01

    Schizophrenia subjects are impaired in a number of visual attention paradigms. However, their performance on tests of figure-ground visual perception (FGP), which requires subjects to visually discriminate figures embedded in a rival background, is relatively unstudied. We examined FGP in 63 schizophrenia patients and 27 control subjects and found that the patients performed the FGP test reliably and had significantly lower FGP scores than the control subjects. Figure-ground visual perception was significantly correlated with other neuropsychological test scores and was inversely related to negative symptoms. It was unrelated to antipsychotic medication treatment. Figure-ground visual perception depends on "top down" processing of visual stimuli, and thus this data suggests that dysfunction in the higher-level pathways that modulate visual perceptual processes may also be related to a core defect in schizophrenia.

  7. Draft Genome Sequence of Pseudomonas putida CA-3, a Bacterium Capable of Styrene Degradation and Medium-Chain-Length Polyhydroxyalkanoate Synthesis

    PubMed Central

    Almeida, Eduardo L.; Margassery, Lekha M.; O’Leary, Niall

    2018-01-01

    ABSTRACT Pseudomonas putida strain CA-3 is an industrial bioreactor isolate capable of synthesizing biodegradable polyhydroxyalkanoate polymers via the metabolism of styrene and other unrelated carbon sources. The pathways involved are subject to regulation by global cellular processes. The draft genome sequence is 6,177,154 bp long and contains 5,608 predicted coding sequences. PMID:29371359

  8. Childhood Exposure to Family Violence and Attrition in the Navy

    DTIC Science & Technology

    2003-02-01

    in Treatment of Child Abuse : Common Ground for Mental Health, Medical, and Legal Practitioners, pp. 135-154. Baltimore MD Johns Hopkins University...was associated with early attrition whereas CPA and DV were unrelated to timing of attrition. 14. SUBJECT TERMS attrition, family violence, child ... abuse , recruits 16. SECURITY CLASSIFICATION OF: 18a. NAME OF RESPONSIBLE PERSON Commanding Officer a. REPORT UNCL b.ABSTRACT UNCL C. THIS

  9. Comparative evaluation of an automated repetitive-sequence-based PCR instrument versus pulsed-field gel electrophoresis in the setting of a Serratia marcescens nosocomial infection outbreak.

    PubMed

    Ligozzi, Marco; Fontana, Roberta; Aldegheri, Marco; Scalet, Giovanna; Lo Cascio, Giuliana

    2010-05-01

    A semiautomated, repetitive-sequence-based PCR (rep-PCR) instrument (DiversiLab system) was evaluated in comparison with pulsed-field gel electrophoresis (PFGE) to investigate an outbreak of Serratia marcescens infections in a neonatal intensive care unit (NICU). A selection of 36 epidemiologically related and 8 epidemiologically unrelated isolates was analyzed. Among the epidemiologically related isolates, PFGE identified five genetically unrelated patterns. Thirty-two isolates from patients and wet nurses showed the same PFGE profile (pattern A). Genetically unrelated PFGE patterns were found in one patient (pattern B), in two wet nurses (patterns C and D), and in an environmental isolate from the NICU (pattern G). Rep-PCR identified seven different patterns, three of which included the 32 isolates of PFGE type A. One or two band differences in isolates of these three types allowed isolates to be categorized as similar and included in a unique cluster. Isolates of different PFGE types were also of unrelated rep-PCR types. All of the epidemiologically unrelated isolates were of different PFGE and rep-PCR types. The level of discrimination exhibited by rep-PCR with the DiversiLab system allowed us to conclude that this method was able to identify genetic similarity in a spatio-temporal cluster of S. marcescens isolates.

  10. A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

    PubMed Central

    Browning, Brian L.; Browning, Sharon R.

    2009-01-01

    We present methods for imputing data for ungenotyped markers and for inferring haplotype phase in large data sets of unrelated individuals and parent-offspring trios. Our methods make use of known haplotype phase when it is available, and our methods are computationally efficient so that the full information in large reference panels with thousands of individuals is utilized. We demonstrate that substantial gains in imputation accuracy accrue with increasingly large reference panel sizes, particularly when imputing low-frequency variants, and that unphased reference panels can provide highly accurate genotype imputation. We place our methodology in a unified framework that enables the simultaneous use of unphased and phased data from trios and unrelated individuals in a single analysis. For unrelated individuals, our imputation methods produce well-calibrated posterior genotype probabilities and highly accurate allele-frequency estimates. For trios, our haplotype-inference method is four orders of magnitude faster than the gold-standard PHASE program and has excellent accuracy. Our methods enable genotype imputation to be performed with unphased trio or unrelated reference panels, thus accounting for haplotype-phase uncertainty in the reference panel. We present a useful measure of imputation accuracy, allelic R2, and show that this measure can be estimated accurately from posterior genotype probabilities. Our methods are implemented in version 3.0 of the BEAGLE software package. PMID:19200528

  11. Health-related behavior, profile of health locus of control and acceptance of illness in patients suffering from chronic somatic diseases.

    PubMed

    Janowski, Konrad; Kurpas, Donata; Kusz, Joanna; Mroczek, Bozena; Jedynak, Tomasz

    2013-01-01

    The purpose of the study was to determine health-related behaviors, profile of health locus of control (HLC), and to assess the relationships between these constructs among patients suffering from chronic somatic diseases. Three-hundred adult patients suffering from various chronic diseases participated in the study. The patients' mean age was 54.6 years (SD = 17.57). No statistically significant differences were found between the different clinical groups in health-related behavior, acceptance of illness, internal HLC or chance HLC. Patients with neurologic conditions showed slightly lower powerful others HLC than did some other clinical groups. Health-related behavior was significantly positively related to all three categories of HLC, with most prominent associations observed with powerful others HLC. Only one type of health-related behavior--preventive behavior--correlated significantly and negatively with acceptance of illness. Differences in the frequency of health-related behavior were also found due to gender (women showing more healthy nutritional habits than men), age (older subjects showing more frequent health-promoting behavior), education (higher education was associated with less frequent health-promoting behavior) and marital status (widowed subjects reporting more frequent health-promoting behavior). Health-related behavior in patients with chronic diseases seems to be unrelated to a specific diagnosis; however it shows associations with both internal and external HLC. Sociodemographic factors are also crucial factors determining frequency of health-related behavior in such patients.

  12. Passion in sport: on the quality of the coach-athlete relationship.

    PubMed

    Lafrenière, Marc-André K; Jowett, Sophia; Vallerand, Robert J; Gonahue, Eric G; Lorimer, Ross

    2008-10-01

    Vallerand et al. (2003) developed a dualistic model of passion, wherein two types of passion are proposed: harmonious (HP) and obsessive (OP) passion that predict adaptive and less adaptive interpersonal outcomes, respectively. In the present research, we were interested in understanding the role of passion in the quality of coach-athlete relationships. Results of Study 1, conducted with athletes (N=157), revealed that HP positively predicts a high-quality coach-athlete relationship, whereas OP was largely unrelated to such relationships. Study 2 was conducted with coaches (N=106) and showed that only HP positively predicted the quality of the coach-athlete relationship. Furthermore, these effects were fully mediated by positive emotions. Finally, the quality of the coach-athlete relationship positively predicted coaches' subjective well-being. Future research directions are discussed in light of the dualistic model of passion.

  13. Which Measures of Obesity Are Related to Depressive Symptoms and in Whom?

    PubMed Central

    Lim, Weonjeong; Thomas, Kamala S.; Bardwell, Wayne A.; Dimsdale, Joel E.

    2009-01-01

    The authors asked which obesity measurements were associated with depressive symptoms, whether this relationship differed by gender, and whether controlling for fatigue and response bias affected the relationship. A sample of 129 subjects (66 men, 63 women), with a mean age of 36.9 years and a mean Body Mass Index (BMI) of 26.4 participated in the study. Depressive symptoms, levels of fatigue, response bias, and anthropometrics were assessed. In women, but not men, BMI and percent of ideal body weight were related to depression. However, percent of body fat did not show a relationship with depression after controlling for fatigue and response bias. These findings suggest that women’s depressive symptoms are more influenced by body size than body fat composition, whereas men’s depressive symptoms seem to be unrelated to obesity. PMID:18212172

  14. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

    PubMed

    Scott, Eric M; Halees, Anason; Itan, Yuval; Spencer, Emily G; He, Yupeng; Azab, Mostafa Abdellateef; Gabriel, Stacey B; Belkadi, Aziz; Boisson, Bertrand; Abel, Laurent; Clark, Andrew G; Alkuraya, Fowzan S; Casanova, Jean-Laurent; Gleeson, Joseph G

    2016-09-01

    The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.

  15. Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer.

    PubMed

    Buchlis, George; Podsakoff, Gregory M; Radu, Antonetta; Hawk, Sarah M; Flake, Alan W; Mingozzi, Federico; High, Katherine A

    2012-03-29

    In previous work we transferred a human factor IX-encoding adeno-associated viral vector (AAV) into skeletal muscle of men with severe hemophilia B. Biopsy of injected muscle up to 1 year after vector injection showed evidence of gene transfer by Southern blot and of protein expression by IHC and immunofluorescent staining. Although the procedure appeared safe, circulating F.IX levels remained subtherapeutic (< 1%). Recently, we obtained muscle tissue from a subject injected 10 years earlier who died of causes unrelated to gene transfer. Using Western blot, IHC, and immunofluorescent staining, we show persistent factor IX expression in injected muscle tissue. F.IX transcripts were detected in injected skeletal muscle using RT-PCR, and isolated whole genomic DNA tested positive for the presence of the transferred AAV vector sequence. This is the longest reported transgene expression to date from a parenterally administered AAV vector, with broad implications for the future of muscle-directed gene transfer.

  16. Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer

    PubMed Central

    Buchlis, George; Podsakoff, Gregory M.; Radu, Antonetta; Hawk, Sarah M.; Flake, Alan W.; Mingozzi, Federico

    2012-01-01

    In previous work we transferred a human factor IX–encoding adeno-associated viral vector (AAV) into skeletal muscle of men with severe hemophilia B. Biopsy of injected muscle up to 1 year after vector injection showed evidence of gene transfer by Southern blot and of protein expression by IHC and immunofluorescent staining. Although the procedure appeared safe, circulating F.IX levels remained subtherapeutic (< 1%). Recently, we obtained muscle tissue from a subject injected 10 years earlier who died of causes unrelated to gene transfer. Using Western blot, IHC, and immunofluorescent staining, we show persistent factor IX expression in injected muscle tissue. F.IX transcripts were detected in injected skeletal muscle using RT-PCR, and isolated whole genomic DNA tested positive for the presence of the transferred AAV vector sequence. This is the longest reported transgene expression to date from a parenterally administered AAV vector, with broad implications for the future of muscle-directed gene transfer. PMID:22271447

  17. Are developments in mental scanning and mental rotation related?

    PubMed Central

    Wimmer, Marina C.; Robinson, Elizabeth J.; Doherty, Martin J.

    2017-01-01

    The development and relation of mental scanning and mental rotation were examined in 4-, 6-, 8-, 10-year old children and adults (N = 102). Based on previous findings from adults and ageing populations, the key question was whether they develop as a set of related abilities and become increasingly differentiated or are unrelated abilities per se. Findings revealed that both mental scanning and rotation abilities develop between 4- and 6 years of age. Specifically, 4-year-olds showed no difference in accuracy of mental scanning and no scanning trials whereas all older children and adults made more errors in scanning trials. Additionally, the minority of 4-year-olds showed a linear increase in response time with increasing rotation angle difference of two stimuli in contrast to all older participants. Despite similar developmental trajectories, mental scanning and rotation performances were unrelated. Thus, adding to research findings from adults, mental scanning and rotation appear to develop as a set of unrelated abilities from the outset. Different underlying abilities such as visual working memory and spatial coding versus representing past and future events are discussed. PMID:28207810

  18. Female crickets assess relatedness during mate guarding and bias storage of sperm towards unrelated males.

    PubMed

    Tuni, C; Beveridge, M; Simmons, L W

    2013-06-01

    Recent evidence shows that females exert a post-copulatory fertilization bias in favour of unrelated males to avoid the genetic incompatibilities derived from inbreeding. One of the mechanisms suggested for fertilization biases in insects is female control over transport of sperm to the sperm-storage organs. We investigated post-copulatory inbreeding-avoidance mechanisms in females of the cricket Teleogryllus oceanicus. We assessed the relative contribution of related and unrelated males to the sperm stores of double-mated females. To demonstrate unequivocally that biased sperm storage results from female control rather than cryptic male choice, we manipulated the relatedness of mated males and of males performing post-copulatory mate guarding. Our results show that when guarded by a related male, females store less sperm from their actual mate, irrespective of the relatedness of the mating male. Our data support the notion that inhibition of sperm storage by female crickets can act as a form of cryptic female choice to avoid the severe negative effects of inbreeding. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

  19. Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

    PubMed

    Wilke, Carlo; Gillardon, Frank; Deuschle, Christian; Hobert, Markus A; Jansen, Iris E; Metzger, Florian G; Heutink, Peter; Gasser, Thomas; Maetzler, Walter; Blauwendraat, Cornelis; Synofzik, Matthis

    2017-01-01

    Reduced progranulin levels are a hallmark of frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin gene (GRN). However, alterations of central nervous progranulin expression also occur in neurodegenerative disorders unrelated to GRN mutations, such as Alzheimer's disease. We hypothesised that central nervous progranulin levels are also reduced in GRN-negative FTD. Progranulin levels were determined in both cerebrospinal fluid (CSF) and serum in 75 subjects (37 FTD patients and 38 controls). All FTD patients were assessed by whole-exome sequencing for GRN mutations, yielding a target cohort of 34 patients without pathogenic mutations in GRN (GRN-negative cohort) and 3 GRN mutation carriers (2 LoF variants and 1 novel missense variant). Not only the GRN mutation carriers but also the GRN-negative patients showed decreased CSF levels of progranulin (serum levels in GRN-negative patients were normal). The decreased CSF progranulin levels were unrelated to patients' increased CSF levels of total tau, possibly indicating different destructive neuronal processes within FTD neurodegeneration. The patient with the novel GRN missense variant (c.1117C>T, p.P373S) showed substantially decreased CSF levels of progranulin, comparable to the 2 patients with GRN LoF mutations, suggesting a pathogenic effect of this missense variant. Our results indicate that central nervous progranulin reduction is not restricted to the relatively rare cases of FTD caused by GRN LoF mutations, but also contributes to the more common GRN-negative forms of FTD. Central nervous progranulin reduction might reflect a partially distinct pathogenic mechanism underlying FTD neurodegeneration and is not directly linked to tau alterations. © 2016 S. Karger AG, Basel.

  20. Molecular analysis of HLA-DPB1 alleles in idiopathic systemic sclerosis patients and uranium miners with systemic sclerosis.

    PubMed

    Rihs, H P; Conrad, K; Mehlhorn, J; May-Taube, K; Welticke, B; Frank, K H; Baur, X

    1996-03-01

    According to clinical mainifestation and autoantibody pattern [anti-Scl-70, anti-centromere antibodies (ACAs)], systemic sclerosis is a connective tissue disease with heterogenous subgroups. PCR-sequence-specific-oligonucleotide typing was used to study the genetic association of HLA-DPB1 alleles in 54 patients with idiopathic systemic sclerosis, 26 uranium miners with systemic sclerosis and 70 unrelated healthy control subjects. Systemic sclerosis patients with and without former employment in mines were divided into two subgroups according to their scleroderma-typical autoantibody specificities--anti-Scl-70 positive and ACA positive--and third subgroup comprising the rest. Statistical analysis revealed a significantly increased frequency of DPB1*1301(p=0.0001, corrected p=0.011) in idiopathic anti-Scl-70-positive systemic sclerosis cases when compared with unexposed controls. In the same group, we observed an enhanced frequency of DPB1*0601 and *1701 alleles. Since these three alleles carry the information for a glutamic acid residue in position 69 of DPB1, we tested the association of this residue with anti-Scl-70 expression. A strong association between anti-Scl-70 positivity in idiopathic systemic sclerosis patients and amino acid residue 69 of DPB1 was observed when compared with anti-Scl-70-negative idiopathic systemic sclerosis patients (p=0.0009) or unrelated controls (p=0.0007). ACA expression was not associated with the presence of any DPB1 allele tested. The data show that anti-Scl-70 expression in idiopathic systemic sclerosis patients is linked with DPB1*1301 whereas anti-Scl-70-positive miners do not show such a DPB1 association. Futhermore, the data indicate that glutamate 69 of DPB1 might be involved in the susceptibility to idiopathic anti-Scl-70 expression.

  1. Saying "no" to temptation: Want-to motivation improves self-regulation by reducing temptation rather than by increasing self-control.

    PubMed

    Milyavskaya, Marina; Inzlicht, Michael; Hope, Nora; Koestner, Richard

    2015-10-01

    Self-regulation has been conceptualized as the interplay between controlled and impulsive processes; however, most research has focused on the controlled side (i.e., effortful self-control). The present studies focus on the effects of motivation on impulsive processes, including automatic preferences for goal-disruptive stimuli and subjective reports of temptations and obstacles, contrasting them with effects on controlled processes. This is done by examining people's implicit affective reactions in the face of goal-disruptive "temptations" (Studies 1 and 2), subjective reports of obstacles (Studies 2 and 3) and expended effort (Study 3), as well as experiences of desires and self-control in real-time using experience sampling (Study 4). Across these multiple methods, results show that want-to motivation results in decreased impulsive attraction to goal-disruptive temptations and is related to encountering fewer obstacles in the process of goal pursuit. This, in turn, explains why want-to goals are more likely to be attained. Have-to motivation, on the other hand, was unrelated to people's automatic reactions to temptation cues but related to greater subjective perceptions of obstacles and tempting desires. The discussion focuses on the implications of these findings for self-regulation and motivation. (c) 2015 APA, all rights reserved).

  2. Serum levels of 3-epi-25-OH-D3 during hypervitaminosis D in clinical practice.

    PubMed

    Granado-Lorencio, F; Blanco-Navarro, I; Pérez-Sacristán, B; Donoso-Navarro, E; Silvestre-Mardomingo, R

    2012-12-01

    Intoxication from vitamin D supplements has been rarely reported, but nowadays, it occurs more frequently. The presence of the C-3 epimer of 25-hydroxyvitamin D(3) (3-epi-25-OH-D(3)) is highly prevalent in adults, although there is little information regarding its in vivo relevance, if any, especially under pathological conditions. Our aim was to assess the presence of the 3-epi-25-OH-D(3) in serum samples displaying 25-OH-D(3) concentrations indicative of hypervitaminosis D. A total of 58 samples displaying a wide range of concentrations of 25-OH-D(3) (>64-439 ng/ml) by ultrafast liquid chromatography were consecutively recruited and reassessed for the presence of 3-epi-25-OH-D(3) using a second chromatographic system. Data from additional biochemical tests performed as part of the patient evaluation were also recorded. Mean relative contribution of 3-epi-25-OH-D(3) was less than 4%, and concentrations ranged from 2-28.6 ng/ml. Serum levels of the C3 epimer, but not the relative contribution, correlate with serum 25-OH-D(3). Overall, in subjects with 25-OH-D(3) concentrations indicative of hypervitaminosis D, the presence of the C-3 epimer and its levels were apparently unrelated to age, serum markers of renal and liver function, acute-phase reactants, and the presence of hypercalcemia. 3-Epi-25-OH-D(3) did not correlate with PTH, but subjects displaying PTH suppression (<14 pg/ml) showed higher concentrations of 3-epi-25-OH-D(3). The relative contribution of 3-epi-25-D(3) was not significantly altered during hypervitaminosis D, although the absolute levels reached in serum may be biologically relevant. From a clinical viewpoint, although the small size of the group may affect the lack of relationships, the presence of 3-epi-25-OH-D(3) was apparently unrelated to serum markers of renal and liver function, acute-phase reactants, PTH, and the presence of hypercalcemia.

  3. Quantitative genetic analysis of anxiety trait in bipolar disorder.

    PubMed

    Contreras, J; Hare, E; Chavarría, G; Raventós, H

    2018-01-01

    Bipolar disorder type I (BPI) affects approximately 1% of the world population. Although genetic influences on bipolar disorder are well established, identification of genes that predispose to the illness has been difficult. Most genetic studies are based on categorical diagnosis. One strategy to overcome this obstacle is the use of quantitative endophenotypes, as has been done for other medical disorders. We studied 619 individuals, 568 participants from 61 extended families and 51 unrelated healthy controls. The sample was 55% female and had a mean age of 43.25 (SD 13.90; range 18-78). Heritability and genetic correlation of the trait scale from the Anxiety State and Trait Inventory (STAI) was computed by using the general linear model (SOLAR package software). we observed that anxiety trait meets the following criteria for an endophenotype of bipolar disorder type I (BPI): 1) association with BPI (individuals with BPI showed the highest trait score (F = 15.20 [5,24], p = 0.009), 2) state-independence confirmed after conducting a test-retest in 321 subjects, 3) co-segregation within families 4) heritability of 0.70 (SE: 0.060), p = 2.33 × 10 -14 and 5) genetic correlation with BPI was 0.20, (SE = 0.17, p = 3.12 × 10 -5 ). Confounding factors such as comorbid disorders and pharmacological treatment could affect the clinical relationship between BPI and anxiety trait. Further research is needed to evaluate if anxiety traits are specially related to BPI in comparison with other traits such as anger, attention or response inhibition deficit, pathological impulsivity or low self-directedness. Anxiety trait is a heritable phenotype that follows a normal distribution when measured not only in subjects with BPI but also in unrelated healthy controls. It could be used as an endophenotype in BPI for the identification of genomic regions with susceptibility genes for this disorder. Published by Elsevier B.V.

  4. [Analysis of HLA-B locus gene polymorphism in Sichuan Yi ethnic group and Xinjiang Uygur ethnic group].

    PubMed

    Xu, Ming-Yan; Hong, Kun-Xue; Ma, Jun; Deng, Xiao-Ling; Li, Jun; Peng, Hong; Ruan, Yu-Hua; Qin, Guan-Ming; Zhang, Yuan-Zhi; Xing, Hui; Xu, Xiao-Hu; Shao, Yi-Ming

    2006-08-01

    The polymorphism of HLA-B alleles in Sichuan Yi and Xinjiang Uygur population was investigated using the PCR-SSP method. Twenty one alleles were detected in HLA-B loci in 106 Sichuan unrelated Yi healthy subjects. Of them, B*40, B*15 and B*51 were the most common alleles with an allele frequency of 0.1981, 0.1368, 0.1274, respectively; while B*47, B*44, B*18, B*57 and B*78 were the rare alleles with an allele frequency of 0.0189, 0.0142, 0.0094, 0.0047 and 0.0047, respectively. The distribution of HLA-B allele frequencies in Sichuan Yis was between Southern Han and Northern Han. In 110 Xinjiang unrelated healthy Uygur subjects, 27 alleles were detected in HLA-B loci. Of them, B*35 and B*51 were the most common alleles with an allele frequency of 0.1136 and 0.1136, respectively; while B*41, B*56 and B*78 were the rare alleles with a frequency of 0.0045, 0.0045 and 0.0091, respectively. Frequencies of "Caucasoid origin" HLA alleles such as B*08, B*35 and B*50 in Xinjiang Uygurs were higher than other ethnic groups in China. The result of chi2 tests showed that the distributions of HLA-B alleles in Yi and Uygur ethnic groups were in Hardy-Weinberg equilibrium. Heterozygosity (H), discrimination power (DP) and probability of paternity exclusion (EP) of HLA-B locus from Sichuan Yi ethnic group were computed to be 0.8977, 0.9661 and 0.8009; and those from Xinjiang Uygur ethnic group were 0.9372, 0.9857 and 0.8732. The data obtained in this study on the distributions of HLA-B alleles in the Sichuan Yi and Xinjiang Uygur population provide important group genetics information for forensic and paternity tests to estimate the frequency of a DNA profile in these two populations, and can be used in transplant matching, anthropological and disease association studies.

  5. Effect of parental family history of Alzheimer's disease on serial position profiles.

    PubMed

    La Rue, Asenath; Hermann, Bruce; Jones, Jana E; Johnson, Sterling; Asthana, Sanjay; Sager, Mark A

    2008-07-01

    An exaggerated recency effect (ie, disproportionate recall of last-presented items) has been consistently observed in the word list learning of patients with Alzheimer's disease (AD). Our study sought to determine whether there were similar alterations in serial position learning among asymptomatic persons at risk for AD as a result of parental family history. Subjects included 623 asymptomatic middle-aged children of patients with AD (median, 53 years) and 157 control participants whose parents survived to at least age 70 without AD or other memory disorders. All participants were administered the Rey Auditory Verbal Learning Test, which requires learning and recall of 15 unrelated nouns. There was no significant difference in total words recalled between the AD children and control groups. However, compared with controls, AD children exhibited a significantly greater tendency to recall words from the end (recency) versus beginning (primacy) of the list. Serial position effects were unrelated to apolipoprotein allele epsilon 4 or depressive symptoms. Asymptomatic persons at risk for AD by virtue of family history do not show a difference in total words recalled compared with controls, but they exhibit a distinctly different serial position curve, suggesting greater reliance on immediate as opposed to episodic memory. This is the same serial position pattern observed in mild AD, seen here in reduced severity. Longitudinal follow-up is planned to determine whether changes in serial position patterns are a meaningful marker for preclinical detection of AD.

  6. Graft Transit Time Has No Effect on Outcome of Unrelated Donor Hematopoietic Cell Transplants Performed in Australia and New Zealand: A Study from the Australasian Bone Marrow Transplant Recipient Registry.

    PubMed

    Patton, William Nigel; Nivison-Smith, Ian; Bardy, Peter; Dodds, Anthony; Ma, David; Shaw, Peter John; Kwan, John; Wilcox, Leonie; Butler, Andrew; Carter, John M; Blacklock, Hilary; Szer, Jeffrey

    2017-01-01

    A previous study found that platelet recovery and mortality were worse in recipients of myeloablative bone marrow transplants where graft transit times were longer than 20 hours. This retrospective study of unrelated myeloablative allogeneic transplantation performed within Australia and New Zealand analyzed transplant outcomes according to graft transit times. Of 233 assessable cases, 76 grafts (33%) were sourced from bone marrow (BM) and 157 (67%) from peripheral blood. Grafts sourced from Australia and New Zealand (47% of total) were associated with a median transit time of 6 hours versus 32 hours for overseas sourced grafts (53% of total). Graft transit temperature was refrigerated in 85%, ambient in 6%, and unknown in 9% of cases, respectively. Graft transit times had no significant effect on neutrophil or platelet engraftment, treatment-related mortality, overall survival, and incidence of acute or chronic graft-versus-host disease. Separate analysis of BM grafts, although of reduced power, also showed no significant difference in either neutrophil or platelet engraftment or survival between short and longer transport times. This study gives reassurance that both peripheral blood stem cell and especially BM grafts subjected to long transit times and transported at refrigerated temperatures may not be associated with adverse recipient outcomes. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  7. Dominant-negative TLR5 polymorphism reduces adaptive immune response to flagellin and negatively associates with Crohn's disease.

    PubMed

    Gewirtz, Andrew T; Vijay-Kumar, Matam; Brant, Steven R; Duerr, Richard H; Nicolae, Dan L; Cho, Judy H

    2006-06-01

    Crohn's disease (CD) is associated with elevated adaptive immunity to commensal microbes, with flagellin being a dominant antigen. In light of heightened awareness of the importance of innate immunity in regulating adaptive immunity and ambiguity as to the role of CD-associated immune responses in CD pathophysiology, we sought to determine whether natural acquisition of immune responses to flagellin were regulated by the innate immune flagellin receptor toll-like receptor 5 (TLR5) and determine whether persons carrying a recently defined common dominant-negative TLR5 polymorphism (TLR5-stop) might be protected from developing CD. Carriage rates of a recently defined dominant-negative TLR5 polymorphism (TLR5-stop) and levels of serum immunoreactivity to bacterial products were measured in inflammatory bowel disease patients, first-degree relatives, and unrelated controls. We observed that, in healthy subjects, persons carrying TLR5-stop had significantly lower levels of flagellin-specific IgG and IgA but had similar levels of total and LPS-specific Ig. Moreover, we observed that, among Jewish subjects, the carriage rate of TLR5-stop (in heterozygous state) was significantly less in CD patients, but not ulcerative colitis (UC) patients, compared with unaffected relatives and unrelated controls (5.4, 0.9, 6.0, and 6.5% for unaffected relatives, CD, UC, and unrelated Jewish controls, respectively, n = 296, 215, 185, and 416, respectively; P = 0.037 by likelihood calculation for CD vs. controls), indicating that TLR5-stop can protect persons of Jewish ethnicity against CD. We did not observe a significant association of TLR5-stop with CD in a non-Jewish cohort (11.1, 10.4, and 11.7% for unaffected relatives, CD, and UC, respectively; n = 841, 543, and 300 for unaffected relatives, respectively). These results demonstrate that natural acquisition of immune responses to flagellin are regulated by TLR5 and suggest that immune responses to flagellin are not merely associated with CD but rather promote the pathogenic response.

  8. Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).

    PubMed

    Svahn, Johanna; Bagnasco, Francesca; Cappelli, Enrico; Onofrillo, Daniela; Caruso, Silvia; Corsolini, Fabio; De Rocco, Daniela; Savoia, Anna; Longoni, Daniela; Pillon, Marta; Marra, Nicoletta; Ramenghi, Ugo; Farruggia, Piero; Locasciulli, Anna; Addari, Carmen; Cerri, Carla; Mastrodicasa, Elena; Casazza, Gabriella; Verzegnassi, Federico; Riccardi, Francesca; Haupt, Riccardo; Barone, Angelica; Cesaro, Simone; Cugno, Chiara; Dufour, Carlo

    2016-07-01

    We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid tumors, and treatment. Seventy-two patients belonged to complementation group A. Eighty percent of patients presented with mild/moderate somatic phenotype and most with cytopenia. No correlation was seen between somatic/hematologic phenotype and number of missense mutations of FANCA alleles. Over follow-up, 33% of patients improved or maintained mild/moderate cytopenia or normal blood count, whereas remaining worsened cytopenia. Eleven patients developed a hematological adverse event (MDS, AML, pathological cytogenetics) and three developed solid tumors. 10 years cumulative risk of death of the whole cohort was 25.6% with median follow-up 5.8 years. In patients eligible to hematopoietic stem cell transplantation because of moderate cytopenia, mortality was significantly higher in subjects transplanted from matched unrelated donor over nontransplanted subjects, whereas there was no significant difference between matched sibling donor transplants and nontransplanted patients. In patients eligible to transplant because of severe cytopenia and clonal disease, mortality risk was not significantly different in transplanted from matched unrelated versus matched sibling donor versus nontransplanted subjects. The decision to transplant should rely on various elements including, type of donor, HLA matching, patient comorbidities, impairment, and clonal evolution of hematopoiesis. Am. J. Hematol. 91:666-671, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Effects of Delay and Number of Related List Items on Implicit Activation for DRM Critical Items in a Speeded Naming Task

    ERIC Educational Resources Information Center

    Meade, Michelle L.; Hutchison, Keith A.; Rand, Kristina M.

    2010-01-01

    Two experiments examined decay and additivity of semantic priming produced by DRM false memory lists on a naming task. Subjects were presented with study lists containing 14 DRM items that were either all 14 related, the first 7 related, the second 7 related, or all 14 unrelated to the non-presented critical item. Priming was measured on a naming…

  10. Perception and the Temporal Properties of Speech.

    DTIC Science & Technology

    1993-01-11

    conditions. In the embedded condition, phoneme sequences equivalent to these words formed the second syllable of a two-syllable word. In the unembedded ... unembedded in the sequence "warm lips". These priming sequences were based on the sequences used in Experiment 2. Each combinable priming sequence in...unrelated, to the embedded or unembedded prime word. The probes used in this experiment were identical to the ones used in Experiment 2. Subjects were tested

  11. Draft Genome Sequence of Pseudomonas putida CA-3, a Bacterium Capable of Styrene Degradation and Medium-Chain-Length Polyhydroxyalkanoate Synthesis.

    PubMed

    Almeida, Eduardo L; Margassery, Lekha M; O'Leary, Niall; Dobson, Alan D W

    2018-01-25

    Pseudomonas putida strain CA-3 is an industrial bioreactor isolate capable of synthesizing biodegradable polyhydroxyalkanoate polymers via the metabolism of styrene and other unrelated carbon sources. The pathways involved are subject to regulation by global cellular processes. The draft genome sequence is 6,177,154 bp long and contains 5,608 predicted coding sequences. Copyright © 2018 Almeida et al.

  12. Analysis of the population genetic structure of Hb D-Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation.

    PubMed

    Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol O

    2016-07-01

    Understanding the genetic origin of the Hb D-Los Angeles hemoglobin may elucidate population interactions such as movements, migrations, and environmental effects on mutation mechanisms in human biology throughout history. Our study aimed to understand the genetic origin of Hb D-Los Angeles based on haplotype data, observed in the Denizli province of Turkey. We studied DNA samples from 40 unrelated patients with abnormal hemoglobin Hb D-Los Angeles and 59 unrelated healthy subjects from our DNA bank. Possible associated haplotypes, HWE, genetic diversity and population differentiation, population genetic structure analysis and historical-demographic analysis for the two populations were determined by Arlequin ver. 3.5. Molecular diversity results from the two populations show that both populations are genetically similar as far as development and expansion during the historical period. Historical gene flow results show high gene flow between the two populations. SSD and rg tests failed to reject the null hypothesis of population expansion which is consistent with unimodal distribution. Our estimated τ values show that the average time since the demographic expansion for normal and Hb D-Los Angeles populations ranged from approximately 42,000-38,000 ybp, respectively. Our data suggest that the Hb D-Los Angeles population originated within the normal population in Denizli, Turkey. Our results support the hypothesis that the Hb D-Los Angeles mutation may have originated in the Mediterranean area, independent from other populations such as India and China. The evaluation of such data may contribute valuable information to anthropological, paleoclimatic, archaeological, and phylogeographical approaches to human biology throughout the historical period. Am. J. Hum. Biol. 28:476-483, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  13. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

    PubMed Central

    Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

    1994-01-01

    Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

  14. Income inequality, poverty and crime across nations.

    PubMed

    Pare, Paul-Philippe; Felson, Richard

    2014-09-01

    We examine the relationship between income inequality, poverty, and different types of crime. Our results are consistent with recent research in showing that inequality is unrelated to homicide rates when poverty is controlled. In our multi-level analyses of the International Crime Victimization Survey we find that inequality is unrelated to assault, robbery, burglary, and theft when poverty is controlled. We argue that there are also theoretical reasons to doubt that the level of income inequality of a country affects the likelihood of criminal behaviour. © London School of Economics and Political Science 2014.

  15. Alternative donor transplantation for adults with acute leukemia.

    PubMed

    Appelbaum, Frederick R

    2014-01-01

    Allogeneic hematopoietic cell transplantation (HCT) from a matched related donor (MRD) is the preferred therapy for many adults with acute leukemia. Yet most patients do not have matched siblings, and the numbers who do will continue to drop as the average number of children per couple in the United States continues to decline. Recent reports show little difference in the outcomes of matched related and matched unrelated transplants for acute leukemia. Additionally, survival rates at 3-5 years after transplant appear to be generally similar following matched related, matched unrelated, single antigen mismatched unrelated, double cord blood and, perhaps even after haplo-identical transplants. Nevertheless, there are differences between stem cell sources that should be considered in the choice of donor. The following review provides some perspective on the identification of the best stem cell sources for patients who do not have matches within their families. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Orthographic effects in spoken word recognition: Evidence from Chinese.

    PubMed

    Qu, Qingqing; Damian, Markus F

    2017-06-01

    Extensive evidence from alphabetic languages demonstrates a role of orthography in the processing of spoken words. Because alphabetic systems explicitly code speech sounds, such effects are perhaps not surprising. However, it is less clear whether orthographic codes are involuntarily accessed from spoken words in languages with non-alphabetic systems, in which the sound-spelling correspondence is largely arbitrary. We investigated the role of orthography via a semantic relatedness judgment task: native Mandarin speakers judged whether or not spoken word pairs were related in meaning. Word pairs were either semantically related, orthographically related, or unrelated. Results showed that relatedness judgments were made faster for word pairs that were semantically related than for unrelated word pairs. Critically, orthographic overlap on semantically unrelated word pairs induced a significant increase in response latencies. These findings indicate that orthographic information is involuntarily accessed in spoken-word recognition, even in a non-alphabetic language such as Chinese.

  17. Intraspecific queen parasitism in a highly eusocial bee.

    PubMed

    Wenseleers, Tom; Alves, Denise A; Francoy, Tiago M; Billen, Johan; Imperatriz-Fonseca, Vera L

    2011-04-23

    Insect societies are well-known for their advanced cooperation, but their colonies are also vulnerable to reproductive parasitism. Here, we present a novel example of an intraspecific social parasitism in a highly eusocial bee, the stingless bee Melipona scutellaris. In particular, we provide genetic evidence which shows that, upon loss of the mother queen, many colonies are invaded by unrelated queens that fly in from unrelated hives nearby. The reasons for the occurrence of this surprising form of social parasitism may be linked to the fact that unlike honeybees, Melipona bees produce new queens in great excess of colony needs, and that this exerts much greater selection on queens to seek alternative reproductive options, such as by taking over other nests. Overall, our results are the first to demonstrate that queens in highly eusocial bees can found colonies not only via supersedure or swarming, but also by infiltrating and taking over other unrelated nests.

  18. Intraspecific queen parasitism in a highly eusocial bee

    PubMed Central

    Wenseleers, Tom; Alves, Denise A.; Francoy, Tiago M.; Billen, Johan; Imperatriz-Fonseca, Vera L.

    2011-01-01

    Insect societies are well-known for their advanced cooperation, but their colonies are also vulnerable to reproductive parasitism. Here, we present a novel example of an intraspecific social parasitism in a highly eusocial bee, the stingless bee Melipona scutellaris. In particular, we provide genetic evidence which shows that, upon loss of the mother queen, many colonies are invaded by unrelated queens that fly in from unrelated hives nearby. The reasons for the occurrence of this surprising form of social parasitism may be linked to the fact that unlike honeybees, Melipona bees produce new queens in great excess of colony needs, and that this exerts much greater selection on queens to seek alternative reproductive options, such as by taking over other nests. Overall, our results are the first to demonstrate that queens in highly eusocial bees can found colonies not only via supersedure or swarming, but also by infiltrating and taking over other unrelated nests. PMID:20961883

  19. Size as a determinant of reading speed

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Bailey, I.; Clear, R.; Berman, S.

    1992-03-01

    The speed of reading unrelated words as a function of luminance, size, and contrast, was measured with an eye movement monitor for fifteen young adults. Subjects read up to 5,000 words in a test session, with the exact number depending upon their acuity. The size of the smallest legible print at a given luminance and contrast for these subjects was found to fit well to the Blackwell-Taylor detection threshold data above about 1 minute of arc. At lower sizes inclusion of a resolution size term provided an excellent fit. Reading speed was fit to a number of visual performance models.more » It was found that for most subjects that a ratio of the print size to an estimate of the threshold print size (a VL{sub size}) gave the best fits to the data. The threshold size was computed with a fit to the Blackwell-Taylor detection threshold data, modified to include a resolution size term as above. For the sole remaining subject a slightly better fit was obtained with a VL{sub contrast} model, where again the thresholds were modified by a limiting size term. The implication of these results for visual performance modeling is discussed. The reading speed for all subjects varied rapidly with size near the acuity limit, but became almost independent of visibility parameters as long as size is two times the acuity limit. These results show that size is a powerful determinant of reading speed, and suggest that minification of about 1/2 power could be used as a field test for adequate visibility.« less

  20. Size as a determinant of reading speed

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Bailey, I.; Clear, R.; Berman, S.

    1992-03-01

    The speed of reading unrelated words as a function of luminance, size, and contrast, was measured with an eye movement monitor for fifteen young adults. Subjects read up to 5,000 words in a test session, with the exact number depending upon their acuity. The size of the smallest legible print at a given luminance and contrast for these subjects was found to fit well to the Blackwell-Taylor detection threshold data above about 1 minute of arc. At lower sizes inclusion of a resolution size term provided an excellent fit. Reading speed was fit to a number of visual performance models.more » It was found that for most subjects that a ratio of the print size to an estimate of the threshold print size (a VL[sub size]) gave the best fits to the data. The threshold size was computed with a fit to the Blackwell-Taylor detection threshold data, modified to include a resolution size term as above. For the sole remaining subject a slightly better fit was obtained with a VL[sub contrast] model, where again the thresholds were modified by a limiting size term. The implication of these results for visual performance modeling is discussed. The reading speed for all subjects varied rapidly with size near the acuity limit, but became almost independent of visibility parameters as long as size is two times the acuity limit. These results show that size is a powerful determinant of reading speed, and suggest that minification of about 1/2 power could be used as a field test for adequate visibility.« less

  1. Treatment of molluscum contagiosum with an East Indian sandalwood oil product.

    PubMed

    Haque, Malika; Coury, Daniel L

    2017-11-22

    To evaluate the safety and efficacy of an East Indian sandalwood oil (EISO) product as a topical treatment for molluscum contagiosum. Ten subjects ranging in age from 22 months to 29 years were recruited. Subjects were instructed to apply an EISO product to the lesions twice daily. Subjects were monitored every two to three weeks during the study and were questioned regarding local or systemic side effects. Assessment of response was recorded by counting lesions and documented by photographs. Nine of ten subjects (90%) experienced complete resolution of molluscum lesions within the twelve week study period. Response was unrelated to lesion size or number, how long the molluscum rash had been present, or patient age or gender. There were no complaints of side effects, skin irritation, pain, or other adverse events reported in any subjects. In this pilot open label study, an EISO product proved to be an effective treatment for molluscum contagiosum lesions with resolution of lesions typically occurring within twelve weeks of therapy.

  2. When Slights Beget Slights: Attachment Anxiety, Subjective Time, and Intrusion of the Relational Past in the Present.

    PubMed

    Cortes, Kassandra; Wilson, Anne E

    2016-12-01

    Every close relationship has a history, but how people manage their relational past varies and can have important implications in the present. The current research investigated the role of subjective representation of time: How feeling subjectively close (vs. distant) to a past relational transgression (vs. kind act) predicted "kitchen thinking"-the tendency to bring to mind relational past memories in new, unrelated contexts. We explored the role of attachment anxiety as a predictor of subjective time perception and kitchen thinking. We found support for our hypothesis that when negative memories felt subjectively closer relative to positive memories, people were more likely to kitchen think (Studies 1-3). Kitchen thinking, in turn, predicted negative relationship outcomes (Study 4). Furthermore, people high (vs. low) in attachment anxiety were less likely to perceive the timing of their relational memories adaptively, accounting for more kitchen thinking and in turn, maladaptive relational outcomes. © 2016 by the Society for Personality and Social Psychology, Inc.

  3. Physical attractiveness stereotype and memory.

    PubMed

    Rohner, Jean-Christophe; Rasmussen, Anders

    2011-08-01

    Three experiments examined explicit and implicit memory for information that is congruent with the physical attractiveness stereotype (i.e. attractive-positive and unattractive-negative) and information that is incongruent with the physical attractiveness stereotype (i.e. attractive-negative and unattractive-positive). Measures of explicit recognition sensitivity and implicit discriminability revealed a memorial advantage for congruent compared to incongruent information, as evident from hit and false alarm rates and reaction times, respectively. Measures of explicit memory showed a recognition bias toward congruent compared to incongruent information, where participants tended to call congruent information old, independently of whether the information had been shown previously or not. This recognition bias was unrelated to reports of subjective confidence in retrieval. The present findings shed light on the cognitive mechanisms that might mediate discriminatory behavior towards physically attractive and physically unattractive individuals. © 2011 The Authors. Scandinavian Journal of Psychology © 2011 The Scandinavian Psychological Associations.

  4. Do subtle reminders of money change people's political views?

    PubMed

    Rohrer, Doug; Pashler, Harold; Harris, Christine R

    2015-08-01

    A number of researchers have reported studies showing that subtle reminders of money can alter behaviors and beliefs that are seemingly unrelated to money. In 1 set of studies published in this journal, Caruso, Vohs, Baxter, and Waytz (2013) found that incidental exposures to money led subjects to indicate greater support for inequality, socioeconomic differences, group-based discrimination, and free market economies. We conducted high-powered replication attempts of these 4 money priming effects and found no evidence of priming (weighted Cohen's d = 0.03). We later learned that Caruso et al. also found several null effects in their line of research that were not reported in the original article. In addition, the money priming effect observed in the first study of Caruso et al. was included in the Many Labs Replication Project (Klein et al., 2014), and only 1 of the 36 labs was able to find the effect. (c) 2015 APA, all rights reserved).

  5. The cumulative effects of life event, personal and social resources on subjective well-being of elderly widowers.

    PubMed

    Balaswamy, S; Richardson, V E

    2001-01-01

    A multidimensional Life Stress Model was used to test the independent contributions of background characteristics, personal resources, life event, and environmental influences on 200 widowers' levels of well-being, measured by the Affect Balance Scale. Stepwise regression analyses revealed that environmental resources were unrelated to negative affect which is influenced more by the life event and personal resource variables. The environmental resource variables, particularly interactions with friends and neighbors, mostly influenced positive affect. The explanatory model for well-being included multiple variables and explained 33 percent of the variance. Although background characteristics had the greatest impact, absence of hospitalization, higher mastery, higher self-esteem, contacts with friends, and interaction with neighbors enhanced well-being. The results support previous speculations on the importance of positive exchanges for positive affect. African-American widowers showed higher levels of well-being than Caucasian widowers did. The results advance knowledge about differences among elderly men.

  6. Drinking and condom use: results from an event-based daily diary

    PubMed Central

    Leigh, Barbara C.; Vanslyke, Jan Gaylord; Hoppe, Marilyn J.; Rainey, Damian T.; Morrison, Diane M.; Gillmore, Mary Rogers

    2007-01-01

    Although it is often assumed that drinking alcohol interferes with condom use, most studies on this topic do not meet the conditions required for causal interpretation. We examined the association of drinking to condom use using data from diaries of alcohol use and sexual encounters, collected over 8 weeks from college students and clients of a sexually transmitted disease clinic. This method establishes the temporal relationships between drinking and condom use and controls for individual differences by using a within-subjects analysis. Multilevel models that predicted condom use from alcohol use before the sexual encounter, partner type, and the use of other contraception showed that drinking before sex was unrelated to condom use. These results do not support the persistent notion that alcohol causes people to engage in sexual risk that they would avoid when sober; instead, people tend to follow their usual pattern of condom use, regardless of alcohol use. PMID:17333311

  7. Mixed-Effects Modeling of Neurofeedback Self-Regulation Performance: Moderators for Learning in Children with ADHD.

    PubMed

    Zuberer, Agnieszka; Minder, Franziska; Brandeis, Daniel; Drechsler, Renate

    2018-01-01

    Neurofeedback (NF) has gained increasing popularity as a training method for children and adults with attention deficit hyperactivity disorder (ADHD). However, it is unclear to what extent children learn to regulate their brain activity and in what way NF learning may be affected by subject- and treatment-related factors. In total, 48 subjects with ADHD (age 8.5-16.5 years; 16 subjects on methylphenidate (MPH)) underwent 15 double training sessions of NF in either a clinical or a school setting. Four mixed-effects models were employed to analyze learning: training within-sessions, across-sessions, with continuous feedback, and with transfer in which performance feedback is delayed. Age and MPH affected the NF performance in all models. Cross-session learning in the feedback condition was mainly moderated by age and MPH, whereas NF learning in the transfer condition was mainly boosted by MPH. Apart from IQ and task types, other subject-related or treatment-related effects were unrelated to NF learning. This first study analyzing moderators of NF learning in ADHD with a mixed-effects modeling approach shows that NF performance is moderated differentially by effects of age and MPH depending on the training task and time window. Future studies may benefit from using this approach to analyze NF learning and NF specificity. The trial name Neurofeedback and Computerized Cognitive Training in Different Settings for Children and Adolescents With ADHD is registered with NCT02358941.

  8. Effort-Based Decision-Making Paradigms for Clinical Trials in Schizophrenia: Part 2—External Validity and Correlates

    PubMed Central

    Reddy, L. Felice; Barch, Deanna M.; Buchanan, Robert W.; Dunayevich, Eduardo; Gold, James M.; Marder, Steven R.; Wynn, Jonathan K.; Young, Jared W.; Green, Michael F.

    2015-01-01

    Effort-based decision making has strong conceptual links to the motivational disturbances that define a key subdomain of negative symptoms. However, the extent to which effort-based decision-making performance relates to negative symptoms, and other clinical and functionally important variables has yet to be systematically investigated. In 94 clinically stable outpatients with schizophrenia, we examined the external validity of 5 effort-based paradigms, including the Effort Expenditure for Rewards, Balloon Effort, Grip Strength Effort, Deck Choice Effort, and Perceptual Effort tasks. These tasks covered 3 types of effort: physical, cognitive, and perceptual. Correlations between effort related performance and 6 classes of variables were examined, including: (1) negative symptoms, (2) clinically rated motivation and community role functioning, (3) self-reported motivational traits, (4) neurocognition, (5) other psychiatric symptoms and clinical/demographic characteristics, and (6) subjective valuation of monetary rewards. Effort paradigms showed small to medium relationships to clinical ratings of negative symptoms, motivation, and functioning, with the pattern more consistent for some measures than others. They also showed small to medium relations with neurocognitive functioning, but were generally unrelated to other psychiatric symptoms, self-reported traits, antipsychotic medications, side effects, and subjective valuation of money. There were relatively strong interrelationships among the effort measures. In conjunction with findings from a companion psychometric article, all the paradigms warrant further consideration and development, and 2 show the strongest potential for clinical trial use at this juncture. PMID:26209546

  9. Calcium, why and how much?

    PubMed

    Palmieri, G M

    1995-01-01

    Although calcium (Ca) is pivotal for the prevention of osteoporosis, its role in the prevention of other unrelated diseases such as arterial hypertension, cancer of the colon and nephrolithiasis is perplexing. No unitarian hypothesis explaining these unrelated effects of Ca has been postulated. Cytosolic Ca concentration is 10,000-fold lower than in the extracellular space, and this gradient is tightly maintained. Abnormal elevation of cytosolic Ca causes cell damage and death. Parathyroid hormone is a Ca agonist and the suppression of its secretion by Ca could explain the beneficial role of Ca intake in multiple diseases. Thus, parathyroid ablation improves hypertension in rats and cardiomyopathy in hamsters. Since anthropologic data suggests a higher Ca intake, of approximately 1,600 1,600 mg/day, in preneolithic than in modern diets, it is likely that our levels of PTH on genetically predisposed subjects with a loose cellular Ca control may aggravate frequent modern diseases and the process of aging. A higher Ca intake in both sexes should be one of the goals of preventive medicine of our time.

  10. Work-Related Barriers and Facilitators to Antiretroviral Therapy Adherence in Persons Living with HIV Infection

    PubMed Central

    Torres-Madriz, Gilberto; Lerner, Debra; Ruthazer, Robin; Rogers, William H.; Wilson, Ira B.

    2013-01-01

    Little is known about how the structure of work affects adherence to HIV antiretroviral therapy. We surveyed participants in an adherence intervention study to learn more about job characteristics, including measures of psychological demand and control, and job accommodations. Adherence was assessed using the Medication Event Monitoring System (MEMS). Of 156 trial subjects, 69 were employed, and these 69 made 229 study visits. Psychological demands and control were unrelated to adherence, but the presence of workplace accommodations was significantly associated with adherence (p <0.05). In multivariable models adjusting for clustering, those who reported having received an accommodation were 12% more adherent than those who did not receive an accommodation. Adherence was unrelated to experiencing side effects affecting work performance. Having the ability to institute job accommodations was more important to adherence than the psychosocial structure of the work. These potential benefits of requesting modifications need to be weighed against the possible risks of workplace disclosure. PMID:20091340

  11. Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample.

    PubMed

    Wenric, Stephane; Sticca, Tiberio; Caberg, Jean-Hubert; Josse, Claire; Fasquelle, Corinne; Herens, Christian; Jamar, Mauricette; Max, Stéphanie; Gothot, André; Caers, Jo; Bours, Vincent

    2017-01-01

    An increasing number of bioinformatic tools designed to detect CNVs (copy number variants) in tumor samples based on paired exome data where a matched healthy tissue constitutes the reference have been published in the recent years. The idea of using a pool of unrelated healthy DNA as reference has previously been formulated but not thoroughly validated. As of today, the gold standard for CNV calling is still aCGH but there is an increasing interest in detecting CNVs by exome sequencing. We propose to design a metric allowing the comparison of two CNV profiles, independently of the technique used and assessed the validity of using a pool of unrelated healthy DNA instead of a matched healthy tissue as reference in exome-based CNV detection. We compared the CNV profiles obtained with three different approaches (aCGH, exome sequencing with a matched healthy tissue as reference, exome sequencing with a pool of eight unrelated healthy tissue as reference) on three multiple myeloma samples. We show that the usual analyses performed to compare CNV profiles (deletion/amplification ratios and CNV size distribution) lack in precision when confronted with low LRR values, as they only consider the binary status of each CNV. We show that the metric-based distance constitutes a more accurate comparison of two CNV profiles. Based on these analyses, we conclude that a reliable picture of CNV alterations in multiple myeloma samples can be obtained from whole-exome sequencing in the absence of a matched healthy sample. © 2016 WILEY PERIODICALS, INC.

  12. Non-work-related personal events contribute to depressive symptoms in Japanese discretionary workers.

    PubMed

    Ogami, Ayumi; Muto, Takashi; Haruyama, Yasuo; Yoshikawa, Toru

    2013-08-01

    In Japan, the number of workers with depressive symptoms has increased recently, and long working hours are considered one of the main contributing factors. Currently, the number of workers engaging in discretionary work is small but is expected to increase, as a diverse method of employment is believed to contribute to workers' well-being. However, the factors related to discretionary workers' depressive symptoms are unclear. This study aimed to identify the factors associated with depressive symptoms in discretionary workers. The subjects were 240 male discretionary workers in a Japanese insurance company. A cross-sectional study was performed using a questionnaire that includes demographic characteristics, living and working conditions, work-related and non-work-related stressful events, and the Center for Epidemiologic Studies Depression Scale (CES-D). Depressive symptoms were assessed as more than 16 points on the CES-D. Multiple logistic regression models were employed to estimate odd ratios (OR) with 95% confidence intervals (95% CI) of depressive symptoms in relation to possible factors. Thirty-six subjects (15.5%) showed depressive symptoms. The depressive symptoms were significantly related to age (p = 0.04), presence of child(ren) (p = 0.02), and length of employment (p = 0.01), but unrelated to working hours. Subjects who reported "financial matters" (OR = 4.50, 95% CI = 1.89-10.72) and "own event" such as divorce or illness (OR = 2.93, 95% CI = 1.13-7.61) were more likely to show depressive symptoms. In conclusion, mental health measures for discretionary workers should focus on addressing financial difficulties and consultations and assistance in personal health and family issues.

  13. The Curse of Curves: Sex Differences in the Associations Between Body Shape and Pain Expression.

    PubMed

    Vigil, Jacob M; Strenth, Chance R; Mueller, Andrea A; DiDomenico, Jared; Beltran, Diego Guevara; Coulombe, Patrick; Smith, Jane Ellen

    2015-06-01

    This study examines the associations between objective and subjective measurements and impressions of body shape and cold pressor pain reporting in healthy adults. On the basis of sexual selection theory (SST), we hypothesized that body characteristics that are universally preferred by the opposite sex-specifically, lower waist-to-hip ratios (WHR) in women and higher shoulder-to-hip ratios (SHR) in men-and characteristics (e.g., proportion of body fat in women) that infer attractiveness differently across cultures will correspond to higher experimental pain reporting in women and lower pain reporting in males. A convenience sample of young adults (n = 96, 58 females, 18-24 years; mean age = 19.4) was measured for body mass index (BMI), WHR, SHR, and subjective body impressions (SBI), along with cold pressor pain reporting. The findings showed that BMI was positively associated with WHR and less-positive SBI in both sexes. Consistent with SST, however, only BMI and WHR predicted variability in pain expression in women, whereas only SHR predicted variability in men. Subjective body impressions were positively associated with SHR among males and unrelated to WHR among females, yet only females showed a positive association between SBI and higher pain reporting. The findings suggest that sexually selected physical characteristics (WHR and SHR) and culturally influenced somatic (BMI) and psychological (SBI) indicators of attractiveness correspond with variability in pain reporting, potentially reflecting the general tendency for people to express clusters of sexually selected and culturally influenced traits that may include differential pain perception.

  14. Systolic blood pressure, arterial rigidity, and risk of stroke. The Framingham study.

    PubMed

    Kannel, W B; Wolf, P A; McGee, D L; Dawber, T R; McNamara, P; Castelli, W P

    1981-03-27

    Based on prospective data from the Framingham study relating systolic pressure, diastolic pressure, age, and pulse-wave configuration to future stroke incidence, it would appear that isolated systolic hypertension predisposes to stroke independent of arterial rigidity. The prevalence of isolated systolic hypertension increased with age and with the degree of blunting of the dicrotic notch in the pulse wave. Subjects with isolated systolic hypertension experienced two to four times as many strokes as did normotensive persons. While diastolic pressure is related to stroke incidence, in the subject with systolic hypertension, the diastolic component adds little to risk assessment and in men, in this subgroup, appears unrelated to stroke incidence.

  15. Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation.

    PubMed

    Frederiksen, A L; Hansen, S; Brixen, K; Frost, M

    2014-12-01

    Short-stature homeobox (SHOX) gene haploinsufficiency may cause skeletal dysplasia including Léri-Weill Dyschondrosteosis (LWD), a clinical entity characterised by the triad of low height, mesomelic disproportion and Madelung's deformity of the wrist. Bone microarchitecture and estimated strength in adult SHOX mutation carriers have not been examined. Twenty-two subjects with a SHOX mutation including 7 males and 15 females with a median age of 38.8 [21.1-52.2] years were recruited from five unrelated families. The control group consisted of 22 healthy subjects matched on age and sex. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry. Bone geometry, volumetric density, microarchitecture and finite element estimated (FEA) bone strength were measured using high-resolution peripheral quantitative computed tomography (HR-pQCT). A full region of interest (ROI) image analysis and height-matched ROI analyses adjusting for differences in body height between the two groups were performed. Areal BMD and T-scores showed no significant differences between cases and controls. Total radius area was smaller in cases than controls (207 [176-263] vs. 273 [226-298] mm, p<0.01). Radius cortical bone area (74 ± 20 vs. 58 ± 17 mm(2), p=0.01) and thickness (1.16 ± 0.30 vs. 0.84 ± 0.26 mm, p<0.01) as well as total density (428 ± 99 vs. 328 ± 72 mg/cm(3), p<0.01) were higher in SHOX mutation carriers compared to controls. Radius trabecular bone area (119 [103-192] vs. 202 [168-247] mm(2), p<0.01) and trabecular number (1.61 [1.46-2.07] vs. 1.89 [1.73-2.08] mm(-1), p=0.01) were smaller in SHOX mutation carriers. Tibia trabecular thickness was lower in cases (0.067 ± 0.012 vs. 0.076 ± 0.012 mm, p=0.01). These results remained significant after adjustment for differences in body height and when restricting analyses to females. There were no differences in BMD, radius and tibia cortical porosity or FEA failure load between groups. A segment of cortical bone defect was identified in the distal radius adjacent to ulna in five unrelated SHOX mutation carriers. Subjects with a SHOX mutation presented with a different bone geometry in radius and tibia while there were no differences in BMD or failure load compared to controls, suggesting that mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. The prevalence of idiopathic osteosclerosis and condensing osteitis in Zagreb population.

    PubMed

    Verzak, Zeljko; Celap, Branka; Modrić, Vesna Erika; Sorić, Pjetra; Karlović, Zoran

    2012-12-01

    The aim of this study was to determine the prevalence of idiopathic osteosclerosis (IO) and condensing osteitis (CO) in Zagreb patient population sample according to age and sex, localization in the jaw, as well as dental relationship between IO and CO lesions. A retrospective study was performed using orthopantomograms of 1200 patients who underwent dental treatment. Descriptive characteristics of radiopacities, including the size and information concerning the tooth involved, were recorded and processed using chi2-test. A total of 114 radiopacities were identified, 34 IO in 29 subjects (16 female and 13 male, mean age 35), and 80 CO in 69 subjects (38 female and 31 male, mean age 37). There were no significant sex differences. Both CO and IO showed greater predilection for occurrence in the premolar to molar region of the mandible. Our results indicated a low prevalence of IO and CO in the population of Zagreb. Our findings support the theory that IO lesions should be considered developmental variants of normal bone architecture unrelated to local stimuli, whereas CO lesions could be considered reactive formations related to teeth with deep caries, large restoration, or pulpitis.

  17. Contemporary post-humanism: technological and human singularity.

    PubMed

    Colombetti, Elena

    2014-01-01

    Posthumanism entails the idea of transcendence of the human being achieved through technology. The article begins by distinguishing perfection and change (or growth). It also attempts to show the anthropological premises of posthumanism itself and suggests that we can identify two roots: the liberal humanistic subject (autonomous and unrelated that simply realizes herself/himself through her/his own project) and the interpretation of thought as a computable process. Starting from these premises, many authors call for the loosening of the clear boundaries of one's own subject in favour of blending with other beings. According to these theories, we should become post-human: if the human being is thought and thought is a computable process, whatever is able to process information broader and faster is better than the actual human being and has to be considered as the way towards the real completeness of the human being itself. The paper endeavours to discuss the adequacy of these premises highlighting the structural dependency of the human being, the role of the human body, the difference between thought and a computational process, the singularity of some useless and unexpected human acts. It also puts forward the need for axiological criteria to define growth as perfectionism.

  18. Aberrant temporal and spatial brain activity during rest in patients with chronic pain

    PubMed Central

    Malinen, Sanna; Vartiainen, Nuutti; Hlushchuk, Yevhen; Koskinen, Miika; Ramkumar, Pavan; Forss, Nina; Kalso, Eija; Hari, Riitta

    2010-01-01

    In the absence of external stimuli, human hemodynamic brain activity displays slow intrinsic variations. To find out whether such fluctuations would be altered by persistent pain, we asked 10 patients with unrelenting chronic pain of different etiologies and 10 sex- and age-matched control subjects to rest with eyes open during 3-T functional MRI. Independent component analysis was used to identify functionally coupled brain networks. Time courses of an independent component comprising the insular cortices of both hemispheres showed stronger spectral power at 0.12 to 0.25 Hz in patients than in control subjects, with the largest difference at 0.16 Hz. A similar but weaker effect was seen in the anterior cingulate cortex, whereas activity of the precuneus and early visual cortex, used as a control site, did not differ between the groups. In the patient group, seed point-based correlation analysis revealed altered spatial connectivity between insulae and anterior cingulate cortex. The results imply both temporally and spatially aberrant activity of the affective pain-processing areas in patients suffering from chronic pain. The accentuated 0.12- to 0.25-Hz fluctuations in the patient group might be related to altered activity of the autonomic nervous system. PMID:20308545

  19. ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.

    PubMed

    Dodhia, Sonam; Celis, Katrina; Aylward, Alana; Cai, Yi; Fontana, Maria E; Trespalacios, Alberto; Hoffman, David C; Alfonso, Henry Ostos; Eisig, Sidney B; Su, Gloria H; Chung, Wendy K; Haddad, Joseph

    2017-10-01

    A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls. Case-control studies. Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 4.0 (P = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 2.6 (P = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals. These findings support the role of ACSS2 in NSCLP in two independent Hispanic populations from Honduras and Colombia. NA Laryngoscope, 127:E336-E339, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  20. Strategies can enhance rural hospital viability.

    PubMed

    Hyatt, T K

    1991-07-01

    Although some rural hospitals struggle to remain financially viable, the Internal Revenue Service (IRS) often shows greater flexibility in interpreting regulations for tax-exempt hospitals in rural areas. To take advantage of this flexibility, rural facilities should understand issues affecting Federal tax-exempt status, such as private benefit, private inurement, and unrelated business income. A not-for-profit, rural healthcare facility well versed in tax-exempt regulations and their interpretations by the IRS can structure recruitment and retention programs, joint ventures, unrelated businesses, and even cooperative coalitions to enhance its financial well-being without endangering its tax exemption.

  1. Semantic congruence reverses effects of sleep restriction on associative encoding.

    PubMed

    Alberca-Reina, Esther; Cantero, Jose L; Atienza, Mercedes

    2014-04-01

    Encoding and memory consolidation are influenced by factors such as sleep and congruency of newly learned information with prior knowledge (i.e., schema). However, only a few studies have examined the contribution of sleep to enhancement of schema-dependent memory. Based on previous studies showing that total sleep deprivation specifically impairs hippocampal encoding, and that coherent schemas reduce the hippocampal consolidation period after learning, we predict that sleep loss in the pre-training night will mainly affect schema-unrelated information whereas sleep restriction in the post-training night will have similar effects on schema-related and unrelated information. Here, we tested this hypothesis by presenting participants with face-face associations that could be semantically related or unrelated under different sleep conditions: normal sleep before and after training, and acute sleep restriction either before or after training. Memory was tested one day after training, just after introducing an interference task, and two days later, without any interference. Significant results were evident on the second retesting session. In particular, sleep restriction before training enhanced memory for semantically congruent events in detriment of memory for unrelated events, supporting the specific role of sleep in hippocampal memory encoding. Unexpectedly, sleep restriction after training enhanced memory for both related and unrelated events. Although this finding may suggest a poorer encoding during the interference task, this hypothesis should be specifically tested in future experiments. All together, the present results support a framework in which encoding processes seem to be more vulnerable to sleep loss than consolidation processes. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Attitudes of Swiss mothers toward unrelated umbilical cord blood banking 6 months after donation.

    PubMed

    Danzer, Enrico; Holzgreve, Wolfgang; Troeger, Carolyn; Kostka, Ulrike; Steimann, Sabine; Bitzer, Johanes; Gratwohl, Alois; Tichelli, André; Seelmann, Kurt; Surbek, Daniel V

    2003-05-01

    During the past decade, the use of umbilical cord blood (CB) as a source of transplantable hematopoietic stem cells has been increasing. Little is known about the psychosocial consequences that later affect parents after unrelated CB donation. The objective of this study was to evaluate the attitudes of mothers toward unrelated donation of umbilical CB for transplantation 6 months after giving birth. A prospective study was performed with a standardized, anonymous questionnaire distributed to 131 women 6 months after CB donation. The questionnaire included topics concerning views about the ethical accuracy of having donated CB, emotional responses after donation, concerns about genetic testing and research with CB samples, attitude toward anonymity between her child and possible unrelated CB recipient, and willingness to repeatedly donate umbilical CB in a next pregnancy. The vast majority (96.1%) stated that they would donate umbilical CB again, and all respondents were certain that their decision to have donated umbilical CB was ethical. With regard to the potential risks of genetic testing and "experimentation" of umbilical CB, a significant correlation (p = 0.01) was found between negative attitudes and the decision not to donate umbilical CB again. Additionally, it was observed that women who had a negative experience concerning the donation of CB would not donate again (p = 0.004). This study shows a high degree of satisfaction of unrelated umbilical CB donation for banking in women 6 months after delivery. Despite a well-performed and detailed informed consent procedure, one of the ongoing issues for the donators in CB banking involves the concern regarding of improper use of the cells, such as genetic testing or experimentation. Accurate and detailed counseling of pregnant women and their partners therefore maximizes the likelihood that they will donate CB for unrelated banking. These data provide a basis for the improvement of donor selection procedures and public education regarding the use of CB for banking and transplantation.

  3. Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

    PubMed

    Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata; Kaur, Inderjeet

    2016-01-01

    Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron-exon boundaries, along with the 5' and 3' untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR.

  4. Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations.

    PubMed

    Yang, T-L; Guo, Y; Li, S M; Li, S K; Tian, Q; Liu, Y-J; Deng, H-W

    2013-02-01

    Genomic copy number variations (CNVs) have been strongly implicated as important genetic factors for obesity. A recent genome-wide association study identified a novel variant, rs12444979, which is in high linkage disequilibrium with CNV 16p12.3, for association with obesity in Europeans. The aim of this study was to directly examine the relationship between the CNV 16p12.3 and obesity phenotypes, including body mass index (BMI) and body fat mass. Subjects were a multi-ethnic sample, including 2286 unrelated subjects from a European population and 1627 unrelated Han subjects from a Chinese population. Body fat mass was measured using dual energy X-ray absorptiometry. Using Affymetrix Genome-Wide Human SNP Array 6.0, we directly detected CNV 16p12.3, with the deletion frequency of 27.26 and 0.8% in the European and Chinese populations, respectively. We confirmed the significant association between this CNV and obesity (BMI: P=1.38 × 10(-2); body fat mass: P=2.13 × 10(-3)) in the European population. Less copy numbers were associated with lower BMI and body fat mass, and the effect size was estimated to be 0.62 (BMI) and 1.41 (body fat mass), respectively. However, for the Chinese population, we did not observe significant association signal, and the frequencies of this deletion CNV are quite different between the European and Chinese populations (P<0.001). Our findings first suggest that CNV 16p12.3 might be ethnic specific and cause ethnic phenotypic diversity, which may provide some new clues into the understanding of the genetic architecture of obesity.

  5. Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR

    PubMed Central

    Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata

    2016-01-01

    Purpose Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. Methods The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron–exon boundaries, along with the 5′ and 3′ untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Results Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. Conclusions This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR. PMID:27217716

  6. Richter transformation driven by Epstein-Barr virus reactivation during therapy-related immunosuppression in chronic lymphocytic leukaemia.

    PubMed

    García-Barchino, Maria J; Sarasquete, Maria E; Panizo, Carlos; Morscio, Julie; Martinez, Antonio; Alcoceba, Miguel; Fresquet, Vicente; Gonzalez-Farre, Blanca; Paiva, Bruno; Young, Ken H; Robles, Eloy F; Roa, Sergio; Celay, Jon; Larrayoz, Marta; Rossi, Davide; Gaidano, Gianluca; Montes-Moreno, Santiago; Piris, Miguel A; Balanzategui, Ana; Jimenez, Cristina; Rodriguez, Idoia; Calasanz, Maria J; Larrayoz, Maria J; Segura, Victor; Garcia-Muñoz, Ricardo; Rabasa, Maria P; Yi, Shuhua; Li, Jianyong; Zhang, Mingzhi; Xu-Monette, Zijun Y; Puig-Moron, Noemi; Orfao, Alberto; Böttcher, Sebastian; Hernandez-Rivas, Jesus M; Miguel, Jesus San; Prosper, Felipe; Tousseyn, Thomas; Sagaert, Xavier; Gonzalez, Marcos; Martinez-Climent, Jose A

    2018-05-01

    The increased risk of Richter transformation (RT) in patients with chronic lymphocytic leukaemia (CLL) due to Epstein-Barr virus (EBV) reactivation during immunosuppressive therapy with fludarabine other targeted agents remains controversial. Among 31 RT cases classified as diffuse large B-cell lymphoma (DLBCL), seven (23%) showed EBV expression. In contrast to EBV - tumours, EBV + DLBCLs derived predominantly from IGVH-hypermutated CLL, and they also showed CLL-unrelated IGVH sequences more frequently. Intriguingly, despite having different cellular origins, clonally related and unrelated EBV + DLBCLs shared a previous history of immunosuppressive chemo-immunotherapy, a non-germinal centre DLBCL phenotype, EBV latency programme type II or III, and very short survival. These data suggested that EBV reactivation during therapy-related immunosuppression can transform either CLL cells or non-tumoural B lymphocytes into EBV + DLBCL. To investigate this hypothesis, xenogeneic transplantation of blood cells from 31 patients with CLL and monoclonal B-cell lymphocytosis (MBL) was performed in Rag2 -/- IL2γc -/- mice. Remarkably, the recipients' impaired immunosurveillance favoured the spontaneous outgrowth of EBV + B-cell clones from 95% of CLL and 64% of MBL patients samples, but not from healthy donors. Eventually, these cells generated monoclonal tumours (mostly CLL-unrelated but also CLL-related), recapitulating the principal features of EBV + DLBCL in patients. Accordingly, clonally related and unrelated EBV + DLBCL xenografts showed indistinguishable cellular, virological and molecular features, and synergistically responded to combined inhibition of EBV replication with ganciclovir and B-cell receptor signalling with ibrutinib in vivo. Our study underscores the risk of RT driven by EBV in CLL patients receiving immunosuppressive therapies, and provides the scientific rationale for testing ganciclovir and ibrutinib in EBV + DLBCL. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  7. A sib-pair study of the Temperament and Character Inventory scales in major depression.

    PubMed

    Farmer, Anne; Mahmood, Arshad; Redman, Kate; Harris, Tanya; Sadler, Stephanie; McGuffin, Peter

    2003-05-01

    Certain aspects of the personality may be associated with the vulnerability to develop depression. A sib-pair method has been used to examine the familiality of the 7 scales of the Temperament and Character Inventory (TCI) and whether this could be related to the genetic vulnerability to develop depression. Probands with depression and their nearest-aged siblings from Wales were compared with healthy control probands and their nearest-aged siblings on the TCI and measures of depressed mood. All 7 scales of the TCI were familial, and scores on 6 of the scales were similar to US population scores. However, the Welsh subjects' scores on the self-transcendence scale were markedly lower than the US mean, suggesting strong cultural or national influences on this measure. Harm avoidance scores were substantially influenced by current and past depression, but this scale also showed stable traitlike characteristics that are likely related to the genetic vulnerability to depression. Novelty seeking and self-directedness were also partly state-dependent and were negatively correlated with low mood; high scorers may be resilient to the development of depression. High reward dependence may also protect against the development of depression and is unrelated to mood state. The cooperativeness, persistence, and self-transcendence scales appear to have a limited relationship with the development of depression. Harm avoidance, reward dependence, novelty seeking, and self-directedness have traitlike characteristics that are related to the familiality of depression. Cooperativeness, self-transcendence, and persistence are also familial, but this appears to be unrelated to depression.

  8. The Inhibitory Mechanism in Learning Ambiguous Words in a Second Language

    PubMed Central

    Lu, Yao; Wu, Junjie; Dunlap, Susan; Chen, Baoguo

    2017-01-01

    Ambiguous words are hard to learn, yet little is known about what causes this difficulty. The current study aimed to investigate the relationship between the representations of new and prior meanings of ambiguous words in second language (L2) learning, and to explore the function of inhibitory control on L2 ambiguous word learning at the initial stage of learning. During a 4-day learning phase, Chinese–English bilinguals learned 30 novel English words for 30 min per day using bilingual flashcards. Half of the words to be learned were unambiguous (had one meaning) and half were ambiguous (had two semantically unrelated meanings learned in sequence). Inhibitory control was introduced as a subject variable measured by a Stroop task. The semantic representations established for the studied items were probed using a cross-language semantic relatedness judgment task, in which the learned English words served as the prime, and the targets were either semantically related or unrelated to the prime. Results showed that response latencies for the second meaning of ambiguous words were slower than for the first meaning and for unambiguous words, and that performance on only the second meaning of ambiguous words was predicted by inhibitory control ability. These results suggest that, at the initial stage of L2 ambiguous word learning, the representation of the second meaning is weak, probably interfered with by the representation of the prior learned meaning. Moreover, inhibitory control may modulate learning of the new meanings, such that individuals with better inhibitory control may more effectively suppress interference from the first meaning, and thus learn the new meaning more quickly. PMID:28496423

  9. Dynamic interactions between arterial pressure and sympathetic nerve activity: role of arterial baroreceptors.

    PubMed

    Julien, Claude; Chapuis, Bruno; Cheng, Yong; Barrès, Christian

    2003-10-01

    The role of arterial baroreceptors in controlling arterial pressure (AP) variability through changes in sympathetic nerve activity was examined in conscious rats. AP and renal sympathetic nerve activity (RSNA) were measured continuously during 1-h periods in freely behaving rats that had been subjected to sinoaortic baroreceptor denervation (SAD) or a sham operation 2 wk before study (n = 10 in each group). Fast Fourier transform analysis revealed that chronic SAD did not alter high-frequency (0.75-5 Hz) respiratory-related oscillations of mean AP (MAP) and RSNA, decreased by approximately 50% spectral power of both variables in the midfrequency band (MF, 0.27-0.74 Hz) containing the so-called Mayer waves, and induced an eightfold increase in MAP power without altering RSNA power in the low-frequency band (0.005-0.27 Hz). In both groups of rats, coherence between RSNA and MAP was maximal in the MF band and was usually weak at lower frequencies. In SAD rats, the transfer function from RSNA to MAP showed the characteristics of a second-order low-pass filter containing a fixed time delay ( approximately 0.5 s). These results indicate that arterial baroreceptors are not involved in production of respiratory-related oscillations of RSNA but play a major role in the genesis of synchronous oscillations of MAP and RSNA at the frequency of Mayer waves. The weak coupling between slow fluctuations of RSNA and MAP in sham-operated and SAD rats points to the interference of noise sources unrelated to RSNA affecting MAP and of noise sources unrelated to MAP affecting RSNA.

  10. The Inhibitory Mechanism in Learning Ambiguous Words in a Second Language.

    PubMed

    Lu, Yao; Wu, Junjie; Dunlap, Susan; Chen, Baoguo

    2017-01-01

    Ambiguous words are hard to learn, yet little is known about what causes this difficulty. The current study aimed to investigate the relationship between the representations of new and prior meanings of ambiguous words in second language (L2) learning, and to explore the function of inhibitory control on L2 ambiguous word learning at the initial stage of learning. During a 4-day learning phase, Chinese-English bilinguals learned 30 novel English words for 30 min per day using bilingual flashcards. Half of the words to be learned were unambiguous (had one meaning) and half were ambiguous (had two semantically unrelated meanings learned in sequence). Inhibitory control was introduced as a subject variable measured by a Stroop task. The semantic representations established for the studied items were probed using a cross-language semantic relatedness judgment task, in which the learned English words served as the prime, and the targets were either semantically related or unrelated to the prime. Results showed that response latencies for the second meaning of ambiguous words were slower than for the first meaning and for unambiguous words, and that performance on only the second meaning of ambiguous words was predicted by inhibitory control ability. These results suggest that, at the initial stage of L2 ambiguous word learning, the representation of the second meaning is weak, probably interfered with by the representation of the prior learned meaning. Moreover, inhibitory control may modulate learning of the new meanings, such that individuals with better inhibitory control may more effectively suppress interference from the first meaning, and thus learn the new meaning more quickly.

  11. Endothelial Nitric Oxide Synthase (G894T) Gene Polymorphism in a Random Sample of the Egyptian Population: Comparison with Myocardial Infarction Patients

    PubMed Central

    Abdel Rahman, Mohamed F.; Hashad, Ingy M.; Abdel-Maksoud, Sahar M.; Farag, Nabil M.; Abou-Aisha, Khaled

    2012-01-01

    Aim: The aim of this study was to detect endothelial nitric oxide synthase (eNOS) Glu298Asp gene variants in a random sample of the Egyptian population, compare it with those from other populations, and attempt to correlate these variants with serum levels of nitric oxide (NO). The association of eNOS genotypes or serum NO levels with the incidence of acute myocardial infarction (AMI) was also examined. Methods: One hundred one unrelated healthy subjects and 104 unrelated AMI patients were recruited randomly from the 57357 Hospital and intensive care units of El Demerdash Hospital and National Heart Institute, Cairo, Egypt. eNOS genotypes were determined by polymerase chain reaction–restriction fragment length polymorphism. Serum NO was determined spectrophotometrically. Results: The genotype distribution of eNOS Glu298Asp polymorphism determined for our sample was 58.42% GG (wild type), 33.66% GT, and 7.92% TT genotypes while allele frequencies were 75.25% and 24.75% for G and T alleles, respectively. No significant association between serum NO and specific eNOS genotype could be detected. No significant correlation between eNOS genotype distribution or allele frequencies and the incidence of AMI was observed. Conclusion: The present study demonstrated the predominance of the homozygous genotype GG over the heterozygous GT and homozygous TT in random samples of Egyptian population. It also showed the lack of association between eNOS genotypes and mean serum levels of NO, as well as the incidence of AMI. PMID:22731641

  12. Does Goal Relevant Episodic Future Thinking Amplify the Effect on Delay Discounting?

    PubMed Central

    O’Donnell, Sara; Daniel, Tinuke Oluyomi; Epstein, Leonard H.

    2017-01-01

    Delay discounting (DD) is the preference for smaller immediate rewards over larger delayed rewards. Research shows episodic future thinking (EFT), or mentally simulating future experiences, reframes the choice between small immediate and larger delayed rewards, and can reduce DD. Only general EFT has been studied, whereby people reframe decisions in terms of non-goal related future events. Since future thinking is often goal-oriented and leads to greater activation of brain regions involved in prospection, goal-oriented EFT may be associated with greater reductions in DD than general goal-unrelated EFT. The present study (n = 104, Mage = 22.25, SD = 3.42; 50% Female) used a between-subjects 2×2 factorial design with type of episodic thinking (Goal, General) and temporal perspective (Episodic future versus recent thinking; EFT vs ERT) as between factors. Results showed a significant reduction in DD for EFT groups (p < 0.001, Cohen’s d effect size = 0.89), and goal-EFT was more effective than general-EFT on reducing DD (p = 0.03, d = 0.64). PMID:28282631

  13. In God we trust? Neural measures reveal lower social conformity among non-religious individuals.

    PubMed

    Thiruchselvam, Ravi; Gopi, Yashoda; Kilekwang, Leonard; Harper, Jessica; Gross, James J

    2017-06-01

    Even in predominantly religious societies, there are substantial individual differences in religious commitment. Why is this? One possibility is that differences in social conformity (i.e. the tendency to think and behave as others do) underlie inclination towards religiosity. However, the link between religiosity and conformity has not yet been directly examined. In this study, we tested the notion that non-religious individuals show dampened social conformity, using both self-reported and neural (EEG-based ERPs) measures of sensitivity to others' influence. Non-religious vs religious undergraduate subjects completed an experimental task that assessed levels of conformity in a domain unrelated to religion (i.e. in judgments of facial attractiveness). Findings showed that, although both groups yielded to conformity pressures at the self-report level, non-religious individuals did not yield to such pressures in their neural responses. These findings highlight a novel link between religiosity and social conformity, and hold implications for prominent theories about the psychological functions of religion. © The Author (2017). Published by Oxford University Press.

  14. Does goal relevant episodic future thinking amplify the effect on delay discounting?

    PubMed

    O'Donnell, Sara; Oluyomi Daniel, Tinuke; Epstein, Leonard H

    2017-05-01

    Delay discounting (DD) is the preference for smaller immediate rewards over larger delayed rewards. Research shows episodic future thinking (EFT), or mentally simulating future experiences, reframes the choice between small immediate and larger delayed rewards, and can reduce DD. Only general EFT has been studied, whereby people reframe decisions in terms of non-goal related future events. Since future thinking is often goal-oriented and leads to greater activation of brain regions involved in prospection, goal-oriented EFT may be associated with greater reductions in DD than general goal-unrelated EFT. The present study (n=104, M age =22.25, SD=3.42; 50% Female) used a between-subjects 2×2 factorial design with type of episodic thinking (Goal, General) and temporal perspective (Episodic future versus recent thinking; EFT vs ERT) as between factors. Results showed a significant reduction in DD for EFT groups (p<0.001, Cohen's d effect size=0.89), and goal-EFT was more effective than general-EFT on reducing DD (p=0.03, d=0.64). Copyright © 2017 Elsevier Inc. All rights reserved.

  15. 20 CFR 220.103 - Two or more unrelated impairments-initial claims.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Two or more unrelated impairments-initial... impairments—initial claims. (a) Unrelated severe impairments. Two or more unrelated severe impairments cannot be combined to meet the 12-month duration test. If the claimant has a severe impairment(s) and then...

  16. 20 CFR 416.922 - When you have two or more unrelated impairments-initial claims.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... impairments-initial claims. 416.922 Section 416.922 Employees' Benefits SOCIAL SECURITY ADMINISTRATION... of Disability § 416.922 When you have two or more unrelated impairments—initial claims. (a) Unrelated severe impairments. We cannot combine two or more unrelated severe impairments to meet the 12-month...

  17. 48 CFR 1852.228-78 - Cross-waiver of liability for science or space exploration activities unrelated to the...

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... for science or space exploration activities unrelated to the International Space Station. 1852.228-78... Cross-waiver of liability for science or space exploration activities unrelated to the International... Liability for Science or Space Exploration Activities Unrelated to the International Space Station (OCT 2012...

  18. 48 CFR 1852.228-78 - Cross-waiver of liability for science or space exploration activities unrelated to the...

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... for science or space exploration activities unrelated to the International Space Station. 1852.228-78... Cross-waiver of liability for science or space exploration activities unrelated to the International... Liability for Science or Space Exploration Activities Unrelated to the International Space Station (OCT 2012...

  19. Reproductive allocation strategies in desert and Mediterranean populations of annual plants grown with and without water stress.

    PubMed

    Aronson, J; Kigel, J; Shmida, A

    1993-03-01

    Reproductive effort (relative allocation of biomass to diaspore production) was compared in matched pairs of Mediterranean and desert populations of three unrelated annual species, Erucaria hispanica (L.) Druce, Bromus fasciculatus C. Presl. and Brachypodium distachyon (L.) Beauv., grown under high and low levels of water availability in a common-environment experiment. Desert populations in all three species showed higher reproductive effort than corresponding Mediterranean populations, as expressed by both a reproductive index (RI= reproductive biomass/vegetative biomass), and a reproductive efficiency index (REI=number of diaspores/total plant biomass). Moreover, in E. hispanica and Brachypodium distachyon, inter-populational differences in reproductive effort were greater under water stress, the main limiting factor for plant growth in the desert. These results indicate that variability in reproductive effort in response to drought is a critical and dynamic component of life history strategies in annual species in heterogeneous, unpredictable xeric environments. When subjected to water stress the Mediterranean populations of E. hispanica and B. distachyon showed greater plasticity (e.g. had a greater reduction) in reproductive effort than the desert populations, while in Bromus fasciculatus both populations showed similar amounts of plasticity.

  20. Visual naming deficits in dyslexia: An ERP investigation of different processing domains.

    PubMed

    Araújo, Susana; Faísca, Luís; Reis, Alexandra; Marques, J Frederico; Petersson, Karl Magnus

    2016-10-01

    Naming speed deficits are well documented in developmental dyslexia, expressed by slower naming times and more errors in response to familiar items. Here we used event-related potentials (ERPs) to examine at what processing level the deficits in dyslexia emerge during a discrete-naming task. Dyslexic and skilled adult control readers performed a primed object-naming task, in which the relationship between the prime and the target was manipulated along perceptual, semantic and phonological dimensions. A 3×2 design that crossed Relationship Type (Visual, Phonemic Onset, and Semantic) with Relatedness (Related and Unrelated) was used. An attenuated N/P190 - indexing early visual processing - and N300 - which index late visual processing - was observed to pictures preceded by perceptually related (vs. unrelated) primes in the control but not in the dyslexic group. These findings suggest suboptimal processing in early stages of object processing in dyslexia, when integration and mapping of perceptual information to a more form-specific percept in memory take place. On the other hand, both groups showed an N400 effect associated with semantically related pictures (vs. unrelated), taken to reflect intact integration of semantic similarities in both dyslexic and control readers. We also found an electrophysiological effect of phonological priming in the N400 range - that is, an attenuated N400 to objects preceded by phonemic related primes vs. unrelated - while it showed a more widespread distributed and more pronounced over the right hemisphere in the dyslexics. Topographic differences between groups might have originated from a word form encoding process with different characteristics in dyslexics compared to control readers. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. Differential-associative processing or example elaboration: Which strategy is best for learning the definitions of related and unrelated concepts?

    PubMed

    Hannon, Brenda

    2012-10-01

    Definitions of related concepts (e.g., genotype - phenotype ) are prevalent in introductory classes. Consequently, it is important that educators and students know which strategy(s) work best for learning them. This study showed that a new comparative elaboration strategy, called differential-associative processing, was better for learning definitions of related concepts than was an integrative elaborative strategy, called example elaboration. This outcome occurred even though example elaboration was administered in a naturalistic way (Experiment 1) and students spent more time in the example elaboration condition learning (Experiments 1, 2, 3), and generating pieces of information about the concepts (Experiments 2 and 3). Further, with unrelated concepts ( morpheme-fluid intelligence ), performance was similar regardless if students used differential-associative processing or example elaboration (Experiment 3). Taken as a whole, these results suggest that differential-associative processing is better than example elaboration for learning definitions of related concepts and is as good as example elaboration for learning definitions of unrelated concepts.

  2. Differential-associative processing or example elaboration: Which strategy is best for learning the definitions of related and unrelated concepts?

    PubMed Central

    Hannon, Brenda

    2013-01-01

    Definitions of related concepts (e.g., genotype–phenotype) are prevalent in introductory classes. Consequently, it is important that educators and students know which strategy(s) work best for learning them. This study showed that a new comparative elaboration strategy, called differential-associative processing, was better for learning definitions of related concepts than was an integrative elaborative strategy, called example elaboration. This outcome occurred even though example elaboration was administered in a naturalistic way (Experiment 1) and students spent more time in the example elaboration condition learning (Experiments 1, 2, 3), and generating pieces of information about the concepts (Experiments 2 and 3). Further, with unrelated concepts (morpheme-fluid intelligence), performance was similar regardless if students used differential-associative processing or example elaboration (Experiment 3). Taken as a whole, these results suggest that differential-associative processing is better than example elaboration for learning definitions of related concepts and is as good as example elaboration for learning definitions of unrelated concepts. PMID:24347814

  3. Developing and Evaluating Medical Humanities Problem-Based Learning Classes Facilitated by the Teaching Assistants Majored in the Liberal Arts: A Longitudinal Crossover Study.

    PubMed

    Tseng, Fen-Yu; Shieh, Jeng-Yi; Kao, Tze-Wah; Wu, Chau-Chung; Chu, Tzong-Shinn; Chen, Yen-Yuan

    2016-02-01

    Although medical humanities courses taught by teachers from nonmedical backgrounds are not unusual now, few studies have compared the outcome of medical humanities courses facilitated by physicians to that by teaching assistants majored in the liberal arts. The objectives of this study were to (1) analyze the satisfaction of medical students with medical humanities problem-based learning (PBL) classes facilitated by nonmedical teaching assistants (TAF) majored in the liberal arts, and those facilitated by the attending physicians (APF) and (2) examine the satisfaction of medical students with clinical medicine-related and clinical medicine-unrelated medical humanities PBL classes.A total of 123 medical students, randomly assigned to 16 groups, participated in this study. There were 16 classes in the course: 8 of them were TAF classes; and the others were APF classes. Each week, each group rotated from 1 subject of the 16 subjects of PBL to another subject. All of the 16 groups went through all the 16 subjects in the 2013 spring semester. We examined the medical students' satisfaction with each class, based on a rating score collected after each class was completed, using a scale from 0 (the lowest satisfaction) to 100 (the highest satisfaction). We also conducted multivariate linear regression analysis to examine the association between the independent variables and the students' satisfaction.Medical students were more satisfied with the TAF (91.35 ± 7.75) medical humanities PBL classes than APF (90.40 ± 8.42) medical humanities PBL classes (P = 0.01). Moreover, medical students were more satisfied with the clinical medicine-unrelated topics (92.00 ± 7.10) than the clinical medicine-related topics (90.36 ± 7.99) in the medical humanities PBL course (P = 0.01).This medical humanities PBL course, including nonmedical subjects and topics, and nonmedical teaching assistants from the liberal arts as class facilitators, was satisfactory. This pedagogical approach of student-centered, nonmedical topics, nonmedical facilitators, and small groups, which is associated with a deep approach to learning medical humanities, should be highly encouraged.

  4. Developing and Evaluating Medical Humanities Problem-Based Learning Classes Facilitated by the Teaching Assistants Majored in the Liberal Arts

    PubMed Central

    Tseng, Fen-Yu; Shieh, Jeng-Yi; Kao, Tze-Wah; Wu, Chau-Chung; Chu, Tzong-Shinn; Chen, Yen-Yuan

    2016-01-01

    Abstract Although medical humanities courses taught by teachers from nonmedical backgrounds are not unusual now, few studies have compared the outcome of medical humanities courses facilitated by physicians to that by teaching assistants majored in the liberal arts. The objectives of this study were to (1) analyze the satisfaction of medical students with medical humanities problem-based learning (PBL) classes facilitated by nonmedical teaching assistants (TAF) majored in the liberal arts, and those facilitated by the attending physicians (APF) and (2) examine the satisfaction of medical students with clinical medicine-related and clinical medicine-unrelated medical humanities PBL classes. A total of 123 medical students, randomly assigned to 16 groups, participated in this study. There were 16 classes in the course: 8 of them were TAF classes; and the others were APF classes. Each week, each group rotated from 1 subject of the 16 subjects of PBL to another subject. All of the 16 groups went through all the 16 subjects in the 2013 spring semester. We examined the medical students’ satisfaction with each class, based on a rating score collected after each class was completed, using a scale from 0 (the lowest satisfaction) to 100 (the highest satisfaction). We also conducted multivariate linear regression analysis to examine the association between the independent variables and the students’ satisfaction. Medical students were more satisfied with the TAF (91.35 ± 7.75) medical humanities PBL classes than APF (90.40 ± 8.42) medical humanities PBL classes (P = 0.01). Moreover, medical students were more satisfied with the clinical medicine-unrelated topics (92.00 ± 7.10) than the clinical medicine-related topics (90.36 ± 7.99) in the medical humanities PBL course (P = 0.01). This medical humanities PBL course, including nonmedical subjects and topics, and nonmedical teaching assistants from the liberal arts as class facilitators, was satisfactory. This pedagogical approach of student-centered, nonmedical topics, nonmedical facilitators, and small groups, which is associated with a deep approach to learning medical humanities, should be highly encouraged. PMID:26871828

  5. Subjective motives for requesting in-patient treatment in female with anorexia nervosa: a qualitative study.

    PubMed

    Gorse, Pauline; Nordon, Clementine; Rouillon, Frederic; Pham-Scottez, Alexandra; Revah-Levy, Anne

    2013-01-01

    Anorexia nervosa is a severe psychiatric disorder mainly affecting women. Its treatment is long and accepted with much difficulty, in particular in-patient treatment. To describe the subjective motives of women with anorexia nervosa for requesting in-patient admission, from a qualitative analysis of application letters. Participants were adult women (18 years and older) with anorexia nervosa who were admitted as in-patients in a referral hospital unit in France from January 2008 to December 2010. The application letters, prerequisites to admission, were studied by the interpretative phenomenological method of content analysis. 63 letters have been analysed, allowing the identification of six themes related to requests for in-patient care: loss of control of behaviour, and of thoughts, mental exhaustion, isolation, inner struggle and fear of recovery. Requests for in-patient admission were motivated by very personal, subjective experiences, unrelated to medical reasons for admission. These results may help improve pre-admission motivational work with individuals, by basing it on their subjective experience.

  6. Comprehension and production of idioms in dysphasia.

    PubMed

    Bush, P G; Drummond, S S

    1985-10-01

    The comprehension and production of idioms was investigated in 10 dysphasic adults. Two different tasks, one comprehension and the other production, were developed. The production task required the subject to verbally explain 15 idioms. The comprehension task necessitated the selection of the correct figurative representation of the idiom from four illustrations: a literal, a literal variation, a figurative, and an unrelated picture. Results indicated no significant correlation between overall comprehension and production performances. No significant difference was found between the comprehension or the production of idioms when type or severity of dysphasia was considered. A significant difference was found, however, in the type of incorrect response, in that subjects selected the literal depiction more often than other foil representations for the comprehension.

  7. Development of a battery of functional tests for low vision.

    PubMed

    Dougherty, Bradley E; Martin, Scott R; Kelly, Corey B; Jones, Lisa A; Raasch, Thomas W; Bullimore, Mark A

    2009-08-01

    We describe the development and evaluation of a battery of tests of functional visual performance of everyday tasks intended to be suitable for assessment of low vision patients. The functional test battery comprises-Reading rate: reading aloud 20 unrelated words for each of four print sizes (8, 4, 2, & 1 M); Telephone book: finding a name and reading the telephone number; Medicine bottle label: reading the name and dosing; Utility bill: reading the due date and amount due; Cooking instructions: reading cooking time on a food package; Coin sorting: making a specified amount from coins placed on a table; Playing card recognition: identifying denomination and suit; and Face recognition: identifying expressions of printed, life-size faces at 1 and 3 m. All tests were timed except face and playing card recognition. Fourteen normally sighted and 24 low vision subjects were assessed with the functional test battery. Visual acuity, contrast sensitivity, and quality of life (National Eye Institute Visual Function Questionnaire 25 [NEI-VFQ 25]) were measured and the functional tests repeated. Subsequently, 23 low vision patients participated in a pilot randomized clinical trial with half receiving low vision rehabilitation and half a delayed intervention. The functional tests were administered at enrollment and 3 months later. Normally sighted subjects could perform all tasks but the proportion of trials performed correctly by the low vision subjects ranged from 35% for face recognition at 3 m, to 95% for the playing card identification. On average, low vision subjects performed three times slower than the normally sighted subjects. Timed tasks with a visual search component showed poorer repeatability. In the pilot clinical trial, low vision rehabilitation produced the greatest improvement for the medicine bottle and cooking instruction tasks. Performance of patients on these functional tests has been assessed. Some appear responsive to low vision rehabilitation.

  8. True self-alienation positively predicts reports of mindwandering.

    PubMed

    Vess, Matthew; Leal, Stephanie A; Hoeldtke, Russell T; Schlegel, Rebecca J; Hicks, Joshua A

    2016-10-01

    Two studies assessed the relationship between feelings of uncertainty about who one truly is (i.e., true self-alienation) and self-reported task-unrelated thoughts (i.e., mindwandering) during performance tasks. Because true self-alienation is conceptualized as the subjective disconnect between conscious awareness and actual experience, we hypothesized that greater feelings of true self-alienation would positively relate to subjective reports of mindwandering. Two convergent studies supported this hypothesis. Moreover, this relationship could not consistently be accounted for by the independent influence of other aspects of authenticity, negative mood, mindfulness, or broad personality dimensions. These findings suggest that individual differences in true self-alienation are reliably associated with subjective reports of mindwandering. The implications of these findings for the true self-alienation construct, the ways that personality relates to mindwandering, and future research directions focused on curtailing mindwandering and improving performance and achievement are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. A reward prediction error for charitable donations reveals outcome orientation of donators

    PubMed Central

    Kuss, Katarina; Falk, Armin; Trautner, Peter; Elger, Christian E.; Weber, Bernd

    2013-01-01

    The motives underlying prosocial behavior, like charitable donations, can be related either to actions or to outcomes. To address the neural basis of outcome orientation in charitable giving, we asked 33 subjects to make choices affecting their own payoffs and payoffs to a charity organization, while being scanned by functional magnetic resonance imaging (fMRI). We experimentally induced a reward prediction error (RPE) by subsequently discarding some of the chosen outcomes. Co-localized to a nucleus accumbens BOLD signal corresponding to the RPE for the subject's own payoff, we observed an equivalent RPE signal for the charity's payoff in those subjects who were willing to donate. This unique demonstration of a neuronal RPE signal for outcomes exclusively affecting unrelated others indicates common brain processes during outcome evaluation for selfish, individual and nonselfish, social rewards and strongly suggests the effectiveness of outcome-oriented motives in charitable giving. PMID:22198972

  10. CYP2A6 genotype and smoking behavior in current smokers screened for lung cancer.

    PubMed

    Styn, Mindi A; Nukui, Tomoko; Romkes, Marjorie; Perkins, Kenneth A; Land, Stephanie R; Weissfeld, Joel L

    2013-05-01

    Functional CYP2A6 genetic variation partially determines nicotine metabolism. In 2005, we examined functional CYP2A6 variants associated with reduced metabolism (CYP2A6*2, CYP2A6*9, CYP2A6*4), smoking history, and change in smoking in 878 adult smokers undergoing lung cancer screening in an urban setting. At one year, 216 quit smoking for more than 30 days while 662 continued smoking. Compared to subjects who smoked 30 cigarettes per day at baseline, the odds of a reduced metabolism genotype was 52% higher in subjects smoking 20-29 cigarettes per day and 86% higher in subjects smoking less than 20 cigarettes per day (p-trend = 0.016). Reduced metabolism genotypes appeared unrelated to quitting. Though related to smoking dose, CYP2A6 may not influence cessation.

  11. Useful field of view test performance throughout adulthood in subjects without ocular disorders.

    PubMed

    Woutersen, Karlijn; van den Berg, Albert V; Boonstra, F Nienke; Theelen, Thomas; Goossens, Jeroen

    2018-01-01

    Previous research has shown an age-related decline in Useful Field of View (UFOV) test performance, which measures the duration required to extract relevant information from a scene in three subtasks. However, these results are mostly based on data that may have been confounded by (age-related) ocular diseases. We examined UFOV performance in subjects aged 19.5 to 70.3 years to investigate how UFOV performance changes throughout adulthood. All subjects underwent a thorough ophthalmological examination to exclude ocular disorders. We also examined some elementary visual functions, i.e., near and far visual acuity, crowding and contrast sensitivity. We investigated whether these functions were related to age and whether they could explain a possible age-related decline in UFOV performance. The subjects (n = 41) performed very well on almost every measure and reached far better UFOV and visual acuity scores than those reported by other studies that relied on self-reported absence of ocular pathology. We did not find significant relationships between age and any of the elementary visual functions or the first two UFOV subtasks (R2UFOV1 = 0.03, p = 0.25; R2UFOV2 = 0.07, p = 0.10). However, we found an age-related decline in performance on the third UFOV subtask (R2UFOV3 = 0.36, p < 0.001), which was unrelated to performance on the elementary visual function tasks. Our results show that performance on the first two UFOV subtasks as well as central elementary visual functions may remain high in the absence of obvious ophthalmological pathology.

  12. Gaze Behavior in One-Handed Catching and Its Relation with Interceptive Performance: What the Eyes Can't Tell

    PubMed Central

    Cesqui, Benedetta; Mezzetti, Maura; Lacquaniti, Francesco; d'Avella, Andrea

    2015-01-01

    In ball sports, it is usually acknowledged that expert athletes track the ball more accurately than novices. However, there is also evidence that keeping the eyes on the ball is not always necessary for interception. Here we aimed at gaining new insights on the extent to which ocular pursuit performance is related to catching performance. To this end, we analyzed eye and head movements of nine subjects catching a ball projected by an actuated launching apparatus. Four different ball flight durations and two different ball arrival heights were tested and the quality of ocular pursuit was characterized by means of several timing and accuracy parameters. Catching performance differed across subjects and depended on ball flight characteristics. All subjects showed a similar sequence of eye movement events and a similar modulation of the timing of these events in relation to the characteristics of the ball trajectory. On a trial-by-trial basis there was a significant relationship only between pursuit duration and catching performance, confirming that keeping the eyes on the ball longer increases catching success probability. Ocular pursuit parameters values and their dependence on flight conditions as well as the eye and head contributions to gaze shift differed across subjects. However, the observed average individual ocular behavior and the eye-head coordination patterns were not directly related to the individual catching performance. These results suggest that several oculomotor strategies may be used to gather information on ball motion, and that factors unrelated to eye movements may underlie the observed differences in interceptive performance. PMID:25793989

  13. Unrelated Helpers in a Primitively Eusocial Wasp: Is Helping Tailored Towards Direct Fitness?

    PubMed Central

    Leadbeater, Ellouise; Carruthers, Jonathan M.; Green, Jonathan P.; van Heusden, Jasper; Field, Jeremy

    2010-01-01

    The paper wasp Polistes dominulus is unique among the social insects in that nearly one-third of co-foundresses are completely unrelated to the dominant individual whose offspring they help to rear and yet reproductive skew is high. These unrelated subordinates stand to gain direct fitness through nest inheritance, raising the question of whether their behaviour is adaptively tailored towards maximizing inheritance prospects. Unusually, in this species, a wealth of theory and empirical data allows us to predict how unrelated subordinates should behave. Based on these predictions, here we compare helping in subordinates that are unrelated or related to the dominant wasp across an extensive range of field-based behavioural contexts. We find no differences in foraging effort, defense behaviour, aggression or inheritance rank between unrelated helpers and their related counterparts. Our study provides no evidence, across a number of behavioural scenarios, that the behaviour of unrelated subordinates is adaptively modified to promote direct fitness interests. PMID:20700463

  14. Not that neglected! Base rates influence related and unrelated judgments.

    PubMed

    Białek, Michał

    2017-06-01

    It is claimed that people are unable (or unwilling) to incorporate prior probabilities into posterior assessments, such as their estimation of the likelihood of a person with characteristics typical of an engineer actually being an engineer given that they are drawn from a sample including a very small number of engineers. This paper shows that base rates are incorporated in classifications (Experiment 1) and, moreover, that base rates also affect unrelated judgments, such as how well a provided description of a person fits a stereotypical engineer (Experiment 2). Finally, Experiment 3 shows that individuals who make both types of assessments - though using base rates to the same extent in the former judgments - are able to decrease the extent to which they incorporate base rates in the latter judgments. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Water pollution and income relationships: A seemingly unrelated partially linear analysis

    NASA Astrophysics Data System (ADS)

    Pandit, Mahesh; Paudel, Krishna P.

    2016-10-01

    We used a seemingly unrelated partially linear model (SUPLM) to address a potential correlation between pollutants (nitrogen, phosphorous, dissolved oxygen and mercury) in an environmental Kuznets curve study. Simulation studies show that the SUPLM performs well to address potential correlation among pollutants. We find that the relationship between income and pollution follows an inverted U-shaped curve for nitrogen and dissolved oxygen and a cubic shaped curve for mercury. Model specification tests suggest that a SUPLM is better specified compared to a parametric model to study the income-pollution relationship. Results suggest a need to continually assess policy effectiveness of pollution reduction as income increases.

  16. Digital data registration and differencing compression system

    NASA Technical Reports Server (NTRS)

    Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

    1990-01-01

    A process is disclosed for x ray registration and differencing which results in more efficient compression. Differencing of registered modeled subject image with a modeled reference image forms a differenced image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three-dimensional model, which three-dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either a remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic x ray digital images.

  17. Digital Data Registration and Differencing Compression System

    NASA Technical Reports Server (NTRS)

    Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

    1996-01-01

    A process for X-ray registration and differencing results in more efficient compression. Differencing of registered modeled subject image with a modeled reference image forms a differenced image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three-dimensional model, which three-dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either a remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic X-ray digital images.

  18. Digital data registration and differencing compression system

    NASA Technical Reports Server (NTRS)

    Ransford, Gary A. (Inventor); Cambridge, Vivien J. (Inventor)

    1992-01-01

    A process for x ray registration and differencing results in more efficient compression is discussed. Differencing of registered modeled subject image with a modeled reference image forms a differential image for compression with conventional compression algorithms. Obtention of a modeled reference image includes modeling a relatively unrelated standard reference image upon a three dimensional model, which three dimensional model is also used to model the subject image for obtaining the modeled subject image. The registration process of the modeled subject image and modeled reference image translationally correlates such modeled images for resulting correlation thereof in spatial and spectral dimensions. Prior to compression, a portion of the image falling outside a designated area of interest may be eliminated, for subsequent replenishment with a standard reference image. The compressed differenced image may be subsequently transmitted and/or stored, for subsequent decompression and addition to a standard reference image so as to form a reconstituted or approximated subject image at either remote location and/or at a later moment in time. Overall effective compression ratios of 100:1 are possible for thoracic x ray digital images.

  19. Variants for HDL-C, LDL-C and Triglycerides Identified from Admixture Mapping and Fine-Mapping Analysis in African-American Families

    PubMed Central

    Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng

    2015-01-01

    Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592

  20. Effort-Based Decision-Making Paradigms for Clinical Trials in Schizophrenia: Part 2—External Validity and Correlates.

    PubMed

    Horan, William P; Reddy, L Felice; Barch, Deanna M; Buchanan, Robert W; Dunayevich, Eduardo; Gold, James M; Marder, Steven R; Wynn, Jonathan K; Young, Jared W; Green, Michael F

    2015-09-01

    Effort-based decision making has strong conceptual links to the motivational disturbances that define a key subdomain of negative symptoms. However, the extent to which effort-based decision-making performance relates to negative symptoms, and other clinical and functionally important variables has yet to be systematically investigated. In 94 clinically stable outpatients with schizophrenia, we examined the external validity of 5 effort-based paradigms, including the Effort Expenditure for Rewards, Balloon Effort, Grip Strength Effort, Deck Choice Effort, and Perceptual Effort tasks. These tasks covered 3 types of effort: physical, cognitive, and perceptual. Correlations between effort related performance and 6 classes of variables were examined, including: (1) negative symptoms, (2) clinically rated motivation and community role functioning, (3) self-reported motivational traits, (4) neurocognition, (5) other psychiatric symptoms and clinical/demographic characteristics, and (6) subjective valuation of monetary rewards. Effort paradigms showed small to medium relationships to clinical ratings of negative symptoms, motivation, and functioning, with the pattern more consistent for some measures than others. They also showed small to medium relations with neurocognitive functioning, but were generally unrelated to other psychiatric symptoms, self-reported traits, antipsychotic medications, side effects, and subjective valuation of money. There were relatively strong interrelationships among the effort measures. In conjunction with findings from a companion psychometric article, all the paradigms warrant further consideration and development, and 2 show the strongest potential for clinical trial use at this juncture. © The Author 2015. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  1. Urotensin-II System in Genetic Control of Blood Pressure and Renal Function

    PubMed Central

    Debiec, Radoslaw; Christofidou, Paraskevi; Denniff, Matthew; Bloomer, Lisa D.; Bogdanski, Pawel; Wojnar, Lukasz; Musialik, Katarzyna; Charchar, Fadi J.; Thompson, John R.; Waterworth, Dawn; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Zukowska-Szczechowska, Ewa; Samani, Nilesh J.; Lambert, David; Tomaszewski, Maciej

    2013-01-01

    Urotensin-II controls ion/water homeostasis in fish and vascular tone in rodents. We hypothesised that common genetic variants in urotensin-II pathway genes are associated with human blood pressure or renal function. We performed family-based analysis of association between blood pressure, glomerular filtration and genes of the urotensin-II pathway (urotensin-II, urotensin-II related peptide, urotensin-II receptor) saturated with 28 tagging single nucleotide polymorphisms in 2024 individuals from 520 families; followed by an independent replication in 420 families and 7545 unrelated subjects. The expression studies of the urotensin-II pathway were carried out in 97 human kidneys. Phylogenetic evolutionary analysis was conducted in 17 vertebrate species. One single nucleotide polymorphism (rs531485 in urotensin-II gene) was associated with adjusted estimated glomerular filtration rate in the discovery cohort (p = 0.0005). It showed no association with estimated glomerular filtration rate in the combined replication resource of 8724 subjects from 6 populations. Expression of urotensin-II and its receptor showed strong linear correlation (r = 0.86, p<0.0001). There was no difference in renal expression of urotensin-II system between hypertensive and normotensive subjects. Evolutionary analysis revealed accumulation of mutations in urotensin-II since the divergence of primates and weaker conservation of urotensin-II receptor in primates than in lower vertebrates. Our data suggest that urotensin-II system genes are unlikely to play a major role in genetic control of human blood pressure or renal function. The signatures of evolutionary forces acting on urotensin-II system indicate that it may have evolved towards loss of function since the divergence of primates. PMID:24391740

  2. Efficacy of a Novel Fenugreek Seed Extract (Trigonella foenum-graecum, Furocyst) in Polycystic Ovary Syndrome (PCOS).

    PubMed

    Swaroop, Anand; Jaipuriar, Amrita Sarkari; Gupta, Sushil Kumar; Bagchi, Manashi; Kumar, Pawan; Preuss, Harry G; Bagchi, Debasis

    2015-01-01

    Polycystic ovary syndrome (PCOS) is one of the most prevalent hormonal disorders among women of reproductive age causing irregular menstrual cycles, excessive body or facial hair, miscarriage and infertility. The latter being a most common PCOS symptoms. Because the symptoms are seemingly unrelated to one another, PCOS is often overlooked and undiagnosed. The present study is an open label, one-arm, non-randomized, post-marketing surveillance study in 50 premenopausal women (18-45 years, BMI<42) diagnosed with PCOS using a novel Trigonella foenum-graecum seed extract (fenugreek seed extract, Furocyst, 2 capsules of 500 mg each/day) extract, enriched in approximately 40% furostanolic saponins, over a period of 90 consecutive days. The study was conducted to determine its efficacy on the reduction of ovarian volume and the number of ovarian cysts. Ethical committee approval was obtained for this study. Furocyst treatment caused significant reduction in ovary volume. Approximately 46% of study population showed reduction in cyst size, while 36% of subjects showed complete dissolution of cyst. It is important to mention that 71% of subjects reported the return of regular menstrual cycle on completion of the treatment and 12% of subjects subsequently became pregnant. Overall, 94% of patients benefitted from the regimen. Significant increases in luteinizing hormone (LH) and follicular stimulating hormone (FSH) levels were observed compared to the baseline values. Extensive blood chemistry, hematological and biochemical assays demonstrated the broad-spectrum safety. Furocyst caused significant decrease in both ovarian volume and the number of ovarian cysts. Serum ALT, BUN and CK were assessed to demonstrate the broad-spectrum safety of Furocyst. No significant adverse effects were observed. In summary, Furocyst was efficacious in ameliorating the symptoms of PCOS.

  3. Cannabidiol for the Prevention of Graft-versus-Host-Disease after Allogeneic Hematopoietic Cell Transplantation: Results of a Phase II Study.

    PubMed

    Yeshurun, Moshe; Shpilberg, Ofer; Herscovici, Corina; Shargian, Liat; Dreyer, Juliet; Peck, Anat; Israeli, Moshe; Levy-Assaraf, Maly; Gruenewald, Tsipora; Mechoulam, Raphael; Raanani, Pia; Ram, Ron

    2015-10-01

    Graft-versus-host-disease (GVHD) is a major obstacle to successful allogeneic hematopoietic cell transplantation (alloHCT). Cannabidiol (CBD), a nonpsychotropic ingredient of Cannabis sativa, possesses potent anti-inflammatory and immunosuppressive properties. We hypothesized that CBD may decrease GVHD incidence and severity after alloHCT. We conducted a phase II study. GVHD prophylaxis consisted of cyclosporine and a short course of methotrexate. Patients transplanted from an unrelated donor were given low-dose anti-T cell globulin. CBD 300 mg/day was given orally starting 7 days before transplantation until day 30. Forty-eight consecutive adult patients undergoing alloHCT were enrolled. Thirty-eight patients (79%) had acute leukemia or myelodysplastic syndrome and 35 patients (73%) were given myeloablative conditioning. The donor was either an HLA-identical sibling (n = 28), a 10/10 matched unrelated donor (n = 16), or a 1-antigen-mismatched unrelated donor (n = 4). The median follow-up was 16 months (range, 7 to 23). No grades 3 to 4 toxicities were attributed to CBD. None of the patients developed acute GVHD while consuming CBD. In an intention-to-treat analysis, we found that the cumulative incidence rates of grades II to IV and grades III to IV acute GVHD by day 100 were 12.1% and 5%, respectively. Compared with 101 historical control subjects given standard GVHD prophylaxis, the hazard ratio of developing grades II to IV acute GVHD among subjects treated with CBD plus standard GVHD prophylaxis was .3 (P = .0002). Rates of nonrelapse mortality at 100 days and at 1 year after transplantation were 8.6% and 13.4%, respectively. Among patients surviving more than 100 days, the cumulative incidences of moderate-to-severe chronic GVHD at 12 and 18 months were 20% and 33%, respectively. The combination of CBD with standard GVHD prophylaxis is a safe and promising strategy to reduce the incidence of acute GVHD. A randomized double-blind controlled study is warranted. (clinicaltrials.gov: NCT01385124). Copyright © 2015 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  4. How Adults' Access to Outpatient Physician Services Relates to the Local Supply of Primary Care Physicians in the Rural Southeast

    PubMed Central

    Pathman, Donald E; Ricketts, Thomas C; Konrad, Thomas R

    2006-01-01

    Objective To examine how access to outpatient medical care varies with local primary care physician densities across primary care service areas (PCSAs) in the rural Southeast, for adults as a whole and separately for the elderly and poor. Data Sources Access data from a 2002 to 2003 telephone survey of 4,311 adults living in 298 PCSAs within 150 rural counties in eight Southeastern states were linked geographically with physician practice location data from the American Medical and American Osteopathic Associations and population data from the U.S. Census. Study Design In a cross-sectional study design, we used a series of logistic regression models to assess how 26 measures of various aspects of access to outpatient physician services varied for subjects arranged into five groups based on the population-per-physician ratios of the PCSAs where they lived. Principal Findings Among adults as a whole, more individuals reported traveling over 30 minutes for outpatient care in PCSAs with more than 3,500 people per physician than in PCSAs with fewer than 1,500 people per physician (39.1 versus 18.5 percent, p<.001) and more reported travel difficulties. Otherwise, PCSA density of primary care physicians was unrelated to reported barriers to care, unrelated to people's satisfaction with care, and unrelated to indicators of people's use of services. Use rates of six recommended preventive health services varied in no consistent direction with physician densities. Among the elderly, only the proportion traveling over 30 minutes for care was greater in areas with lowest physician densities. Among subjects covered under Medicaid or uninsured, lower local physician densities were associated with longer travel time, difficulties with travel and reaching one's physician by phone, and two areas of dissatisfaction with care. Conclusions For adults as a whole in the rural South and for the elderly there, low local primary care physician densities are associated with travel inconvenience but not convincingly with other aspects of access to outpatient care. Access for those insured under Medicaid and the uninsured, however, is in more ways sensitive to local physician densities. PMID:16430602

  5. How the economic recession has changed the likelihood of reporting poor self-rated health in Spain.

    PubMed

    Arroyo, Elena; Renart, Gemma; Saez, Marc

    2015-12-18

    Between 2006 and 2011 self-rated health (SRH) (the subjective report of an individual's health status) actually improved in Spain despite its being in the grips of a serious economic recession. This study examines whether the likelihood of reporting poor health has changed because of the global financial crisis. It also attempts to estimate the differences between SRH and other self-perceived measures of health among groups before and during the current economic crisis in Spain. Cross-sectional population-based surveys were conducted in Spain (ENSE 2006 and ENSE 2011) and in Catalonia (ESCA 2006 and ESCA 2011) in 2006 and again in 2011. In this research work we have used random effects logistic models (dependent variable SRH 1 Poor, 0 Good) and exact matching and propensity score-matching. The results of the ENSE explanatory variables are the same in both 2006 and 2011. In other words, all diseases negatively affect SRH, whereas alcohol habits positively affect SRH and obesity is the only disease unrelated to SRH. ESCA explanatory variables' results show that in 2006 all diseases are significant and have large odds ratio (OR) and consequently those individuals suffering from any of these diseases are more likely to report poor health. In 2011 the same pattern follows with the exception of allergies, obesity, high cholesterol and hypertension, albeit they are not statistically significant. Drinking habits had a positive effect on SRH in 2006 and 2011, whereas smoking is considered as unrelated to SRH. The likelihood of reporting poor health in 2006 is added as a variable in with the logistic regression of 2011 and is not, in either the ENSE data or the ESCA data, significant. Furthermore, neither is it significant when controlling by age, gender, employment status or education. The results of our analysis show that the financial crisis did not alter the likelihood of reporting poor health in 2011. Therefore, there are no differences between our perceived health in either 2006 or in 2011.

  6. Comparison of two techniques of robot-aided upper limb exercise training after stroke.

    PubMed

    Stein, Joel; Krebs, Hermano Igo; Frontera, Walter R; Fasoli, Susan E; Hughes, Richard; Hogan, Neville

    2004-09-01

    This study examined whether incorporating progressive resistive training into robot-aided exercise training provides incremental benefits over active-assisted robot-aided exercise for the upper limb after stroke. A total of 47 individuals at least 1 yr poststroke were enrolled in this 6-wk training protocol. Paretic upper limb motor abilities were evaluated using clinical measures and a robot-based assessment to determine eligibility for robot-aided progressive resistive training at study entry. Subjects capable of participating in resistance training were randomized to receive either active-assisted robot-aided exercises or robot-aided progressive resistance training. Subjects who were incapable of participating in resistance training underwent active-assisted robotic therapy and were again screened for eligibility after 3 wks of robotic therapy. Those subjects capable of participating in resistance training at 3 wks were then randomized to receive either robot-aided resistance training or to continue with robot-aided active-assisted training. One subject withdrew due to unrelated medical issues, and data for the remaining 46 subjects were analyzed. Subjects in all groups showed improvement in measures of motor control (mean increase in Fugl-Meyer of 3.3; 95% confidence interval, 2.2-4.4) and maximal force (mean increase in maximal force of 3.5 N, P = 0.027) over the course of robot-aided exercise training. No differences in outcome measures were observed between the resistance training groups and the matched active-assisted training groups. Subjects' ability to perform the robotic task at the time of group assignment predicted the magnitude of the gain in motor control. The incorporation of robot-aided progressive resistance exercises into a program of robot-aided exercise did not favorably or negatively affect the gains in motor control or strength associated with this training, though interpretation of these results is limited by sample size. Individuals with better motor control at baseline experienced greater increases in motor control with robotic training.

  7. Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.

    PubMed

    Abdel-Malak, Camelia; Darwish, Hossam; Elsaid, Afaf; El-Tarapely, Fatma; Elshazli, Rami

    2016-01-01

    Colorectal cancer is a multifactorial disease that involves both environmental and genetic factors. The gene encoding adenomatous polyposis coli (APC) has been reported to be associated with colorectal cancer (CRC) risk in several ethnic populations. The aim of this work is to assess the association of the APC I1307K and E1317Q polymorphisms with CRC risk among Egyptian subjects. This study included 120 unrelated CRC Egyptian patients who were compared to 100 healthy controls from the same locality. For all subjects, DNA was genotyped for APC I1307K and E1317Q polymorphisms using the PCR-ARMS technique. The frequency of APC I1307K carrier (TA+AA genotypes) was noted to be significantly higher among cases with CRC compared to controls (18.3 vs. 9.0 %, OR 2.58, 95 % CI 1.09-6.09, p = 0.03). Also the frequency of the APC I1307K A allele was significantly higher among cases compared to controls (10.4 vs. 4.5 %, OR 2.47; 95 % CI 1.12-5.42, p = 0.03). On the contrast, the frequencies of APC E1317Q GC genotype and C allele showed no significant difference among CRC patients compared to controls (3.3 vs. 2.0 %, OR 1.69; 95 % CI 0.30-9.42, p = 0.69 and 2.1 vs. 1.0 %, OR 2.11; 95 % CI 0.40-10.97, p = 0.46, respectively). Cases of the APC I1307K and E1317Q carriers (TA+AA and GC) showed no significant difference compared to those with I1307K and E1317Q non-carriers (TT and GG) regarding their clinical and laboratory markers. APC I1307K variant was associated with an increased risk of CRC among Egyptian subjects.

  8. Serum Uric Acid Levels were Dynamically Coupled with Hemoglobin A1c in the Development of Type 2 Diabetes

    NASA Astrophysics Data System (ADS)

    Wei, Fengjiang; Chang, Baocheng; Yang, Xilin; Wang, Yaogang; Chen, Liming; Li, Wei-Dong

    2016-06-01

    The aim of the study was to decipher the relationship between serum uric acid (SUA) and glycated hemoglobin A1c (HbA1c) or fasting plasma glucose (FPG) in both type 2 diabetes mellitus (T2DM) patients and normal subjects. A total of 2,250 unrelated T2DM patients and 4,420 Han Chinese subjects from a physical examination population were recruited for this study. In T2DM patients SUA levels were negatively correlated with HbA1c (rs = -0.109, P = 0.000) and 2 h plasma glucose levels (rs = -0.178, P = 0.000). In the physical examination population, SUA levels were inversely correlated with HbA1c (rs = -0.175, P = 0.000) and FPG (rs = -0.131, P = 0.009) in T2DM patients but positively correlated with HbA1c (rs = 0.040, P = 0.012) and FPG (rs = 0.084, P = 0.000) in normal-glucose subjects. Multivariate analyses showed that HbA1c was significantly negatively associated with HUA both in T2DM patients (OR = 0.872, 95% CI: 0.790~0.963) and in the physical examination T2DM patients (OR = 0.722, 95% CI: 0.539~0.968). Genetic association studies in T2DM patients showed that alleles of two glucose-uric acid transporter genes, ABCG2 and SLC2A9 were significantly associated with SUA levels (P < 0.05). SUA level is inversely correlated with HbA1c in T2DM patients but positively correlated with HbA1c in normal-glucose subjects. The reverse transporting of uric acid and glucose in renal tubules might be accounted for these associations.

  9. Cognate status and cross-script translation priming.

    PubMed

    Voga, Madeleine; Grainger, Jonathan

    2007-07-01

    Greek-French bilinguals were tested in three masked priming experiments with Greek primes and French targets. Related primes were the translation equivalents of target words, morphologically related to targets, or phonologically related to targets. In Experiment 1, cognate translation equivalents (phonologically similar translations) showed facilitatory priming, relative to matched phonologically related primes, in conditions in which morphologically related primes showed no effect (50-msec prime exposure). Cross-language morphological priming emerged at longer prime exposure durations (66 msec), but cognate primes continued to generate more priming than did those in the morphological condition. In Experiments 2 and 3, the level of phonological overlap across translation equivalents was varied, and priming effects were measured against those for matched phonologically related primes and those in an unrelated prime condition. When measured against the unrelated baseline, cognate primes showed the typical advantage over noncognate primes. However, this cognate advantage disappeared when priming was measured against the phonologically related prime condition. The results are discussed in terms of how translation equivalents are represented in bilingual memory.

  10. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    PubMed Central

    Lalani, Seema R.; Liu, Pengfei; Rosenfeld, Jill A.; Watkin, Levi B.; Chiang, Theodore; Leduc, Magalie S.; Zhu, Wenmiao; Ding, Yan; Pan, Shujuan; Vetrini, Francesco; Miyake, Christina Y.; Shinawi, Marwan; Gambin, Tomasz; Eldomery, Mohammad K.; Akdemir, Zeynep Hande Coban; Emrick, Lisa; Wilnai, Yael; Schelley, Susan; Koenig, Mary Kay; Memon, Nada; Farach, Laura S.; Coe, Bradley P.; Azamian, Mahshid; Hernandez, Patricia; Zapata, Gladys; Jhangiani, Shalini N.; Muzny, Donna M.; Lotze, Timothy; Clark, Gary; Wilfong, Angus; Northrup, Hope; Adesina, Adekunle; Bacino, Carlos A.; Scaglia, Fernando; Bonnen, Penelope E.; Crosson, Jane; Duis, Jessica; Maegawa, Gustavo H.B.; Coman, David; Inwood, Anita; McGill, Jim; Boerwinkle, Eric; Graham, Brett; Beaudet, Art; Eng, Christine M.; Hanchard, Neil A.; Xia, Fan; Orange, Jordan S.; Gibbs, Richard A.; Lupski, James R.; Yang, Yaping

    2016-01-01

    The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. A recurrent homozygous c.460G>A (p.Gly154Arg) mutation was found in four unrelated individuals of Hispanic/Latino origin, and a homozygous ∼34 kb deletion affecting exons 3–9 was observed in two families of European ancestry. One individual of mixed Hispanic/European descent was found to be compound heterozygous for c.460G>A (p.Gly154Arg) and the deletion of exons 3–9. Additionally, a homozygous exons 4–6 deletion was identified in a consanguineous Middle Eastern Arab family. No homozygotes have been reported for these changes in control databases. Fibroblasts derived from a subject with the recurrent c.460G>A (p.Gly154Arg) mutation showed evidence of increased endoplasmic reticulum stress and a reduction in Golgi volume density in comparison to control. Our results show that the c.460G>A (p.Gly154Arg) mutation and the exons 3–9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations. PMID:26805781

  11. Understanding the cognitive and motivational underpinnings of sexual passion from a dualistic model.

    PubMed

    Philippe, Frederick L; Vallerand, Robert J; Bernard-Desrosiers, Léa; Guilbault, Valérie; Rajotte, Guillaume

    2017-11-01

    Sexual passion has always been conceptualized as a one-dimensional phenomenon that emerges from interactions with partners. Drawing from the literature on passionate activities, sexual passion was defined in terms of its intrapersonal motivational and cognitive components and examined from a dualistic perspective. More specifically, in 5 studies, we investigated how 2 types of sexual passion, harmonious and obsessive, can lead to clearly distinct subjective, relational, and cognitive outcomes. Study 1 validated a scale measuring harmonious and obsessive sexual passion, and showed that each type of sexual passion leads to common, but also distinct, subjective consequences during sexual activity engagement for both singles and romantically engaged individuals. Studies 2 and 3 differentiated the constructs of harmonious and obsessive sexual passion from competing constructs existing in the literature and provided evidence for its predictive validity regarding various relational outcomes, including relationship sustainability over time. Finally, Studies 4 and 5 investigated the cognitive consequences of each type of sexual passion by showing how they reflect distinct levels of integration of sexual and relational representations, and how they can lead to biased processing of sexual information (Study 4) and conflict with ongoing sex-unrelated goals (Studies 5a and 5b). Overall, the present series of studies provides a new look at sexual passion from a motivational and cognitive intrapersonal perspective that is not restricted to interpersonal ramifications with partners. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  12. Comparison of the hedonic general Labeled Magnitude Scale with the hedonic 9-point scale.

    PubMed

    Kalva, Jaclyn J; Sims, Charles A; Puentes, Lorenzo A; Snyder, Derek J; Bartoshuk, Linda M

    2014-02-01

    The hedonic 9-point scale was designed to compare palatability among different food items; however, it has also been used occasionally to compare individuals and groups. Such comparisons can be invalid because scale labels (for example, "like extremely") can denote systematically different hedonic intensities across some groups. Addressing this problem, the hedonic general Labeled Magnitude Scale (gLMS) frames affective experience in terms of the strongest imaginable liking/disliking of any kind, which can yield valid group comparisons of food palatability provided extreme hedonic experiences are unrelated to food. For each scale, 200 panelists rated affect for remembered food products (including favorite and least favorite foods) and sampled foods; they also sampled taste stimuli (quinine, sucrose, NaCl, citric acid) and rated their intensity. Finally, subjects identified experiences representing the endpoints of the hedonic gLMS. Both scales were similar in their ability to detect within-subject hedonic differences across a range of food experiences, but group comparisons favored the hedonic gLMS. With the 9-point scale, extreme labels were strongly associated with extremes in food affect. In contrast, gLMS data showed that scale extremes referenced nonfood experiences. Perceived taste intensity significantly influenced differences in food liking/disliking (for example, those experiencing the most intense tastes, called supertasters, showed more extreme liking and disliking for their favorite and least favorite foods). Scales like the hedonic gLMS are suitable for across-group comparisons of food palatability. © 2014 Institute of Food Technologists®

  13. Increased plasma chemokine levels in children with Prader-Willi syndrome.

    PubMed

    Butler, Merlin G; Hossain, Waheeda; Sulsona, Carlos; Driscoll, Daniel J; Manzardo, Ann M

    2015-03-01

    Prader-Willi syndrome (PWS) is caused by loss of paternally expressed genes from the 15q11-q13 region and reportedly rearranged as a cause of autism. Additionally, increased inflammatory markers and features of autism are reported in PWS. Cytokines encoded by genes involved with inflammation, cell proliferation, migration, and adhesion play a role in neurodevelopment and could be disturbed in PWS as abnormal plasma cytokine levels are reported in autism. We analyzed 41 plasma cytokines in a cohort of well-characterized children with PWS between 5 and 11 years of age and unaffected unrelated siblings using multiplex sandwich immunoassays with the Luminex magnetic-bead based platform. Data were analyzed using ANOVA testing for effects of diagnosis, gender, body mass index (BMI) and age on the 24 cytokines meeting laboratory criteria for inclusion. No significant effects were observed for age, gender or BMI. The log-transformed levels of the 24 analyzable cytokines were examined simultaneously using MANOVA adjusting for age and gender and a main effect of diagnosis was found (P-value <0.03). Four of 24 plasma cytokine levels (MCP1, MDC, Eotaxin, RANTES) were significantly higher in children with PWS compared with controls and classified as bioinflammatory chemokines supporting a disturbed immune response unrelated to obesity status. BMI was not statistically different in the two subject groups (PWS or unaffected unrelated siblings) and chemokine levels were not correlated with percentage of total body fat. Additional studies are required to identify whether possible early immunological disturbances and chemokine inflammatory processes found in PWS may contribute to neurodevelopment and behavioral features. © 2015 Wiley Periodicals, Inc.

  14. Work-related stress and bullying: gender differences and forensic medicine issues in the diagnostic procedure

    PubMed Central

    2011-01-01

    Background The attention of international agencies and scientific community on bullying and work-related stress is increasing. This study describes the gender differences found in victims of bullying and work-related stress in an Italian case series and analyzes the critical issues in the diagnostic workup. Methods Between 2001 and 2009 we examined 345 outpatients (148 males, 197 females; mean age: 41 ± 10.49) for suspected psychopathological work-related problems. Diagnosis of bullying was established using international criteria (ICD-10 and DSM-IV). Results After interdisciplinary diagnostic evaluation (Occupational Medicine Unit, Psychology and Psychiatry Service), the diagnosis of bullying was formulated in 35 subjects, 12 males and 23 females (2 cases of Post-Traumatic Stress Disorder and 33 of Adjustment Disorder). Fifty-four (20 males, 34 females) suffered from work-related anxiety, while work-unrelated Adjustment Disorder and other psychiatric disorders were diagnosed in 7 and 112 subjects, respectively. Women between 34 and 45 years showed a high prevalence (65%) of "mobbing syndrome" or other work-related stress disorders. Conclusions At work, women are more subject to harassment (for personal aspects related to emotional and relational factors) than men. The knowledge of the phenomenon is an essential requisite to contrast bullying; prevention can be carried out only through effective information and training of workers and employers, who have the legal obligation to preserve the integrity of the mental and physical status of their employees during work. PMID:22088163

  15. Relationship of obesity with osteoporosis

    PubMed Central

    Zhao, Lan-Juan; Liu, Yong-Jun; Liu, Peng-Yuan; Hamilton, James; Recker, Robert R.; Deng, Hong-Wen

    2007-01-01

    Context The relationship between obesity and osteoporosis has been widely studied, and epidemiological evidence shows that obesity is correlated with increased bone mass. Previous analyses, however, did not control for the mechanical loading effects of total body weight on bone mass and may have generated a confounded or even biased relationship between obesity and osteoporosis. Objective To re-evaluate the relationship between obesity and osteoporosis by accounting for the mechanical loading effects of total body weight on bone mass. Methods We measured whole body fat mass, lean mass, percentage fat mass (PFM), body mass index (BMI), and bone mass in two large samples of different ethnicity: 1,988 unrelated Chinese subjects and 4,489 Caucasian subjects from 512 pedigrees. We first evaluated the Pearson correlations among different phenotypes. We then dissected the phenotypic correlations into genetic and environmental components, with bone mass unadjusted, or adjusted, for body weight. This allowed us to compare the results with and without controlling for mechanical loading effects of body weight on bone mass. Results In both Chinese and Caucasians, when the mechanical loading effect of body weight on bone mass was adjusted for, the phenotypic correlation (including its genetic and environmental components) between fat mass (or PFM) and bone mass was negative. Further multivariate analyses in subjects stratified by body weight confirmed the inverse relationship between bone mass and fat mass, after mechanical loading effects due to total body weight was controlled. Conclusions Increasing fat mass may not have a beneficial effect on bone mass. PMID:17299077

  16. How Well Do COP22 Attendees Understand Graphs on Climate Change Health Impacts from the Fifth IPCC Assessment Report?

    PubMed

    Fischer, Helen; Schütte, Stefanie; Depoux, Anneliese; Amelung, Dorothee; Sauerborn, Rainer

    2018-04-27

    Graphs are prevalent in the reports of the Intergovernmental Panel on Climate Change (IPCC), often depicting key points and major results. However, the popularity of graphs in the IPCC reports contrasts with a neglect of empirical tests of their understandability. Here we put the understandability of three graphs taken from the Health chapter of the Fifth Assessment Report to an empirical test. We present a pilot study where we evaluate objective understanding (mean accuracy in multiple-choice questions) and subjective understanding (self-assessed confidence in accuracy) in a sample of attendees of the United Nations Climate Change Conference in Marrakesh, 2016 (COP22), and a student sample. Results show a mean objective understanding of M = 0.33 for the COP sample, and M = 0.38 for the student sample. Subjective and objective understanding were unrelated for the COP22 sample, but associated for the student sample. These results suggest that (i) understandability of the IPCC health chapter graphs is insufficient, and that (ii) particularly COP22 attendees lacked insight into which graphs they did, and which they did not understand. Implications for the construction of graphs to communicate health impacts of climate change to decision-makers are discussed.

  17. Development of speech motor control: lip movement variability.

    PubMed

    Schötz, Susanne; Frid, Johan; Löfqvist, Anders

    2013-06-01

    This study examined variability of lip movements across repetitions of the same utterance as a function of age in Swedish speakers. The specific purpose was to extend earlier findings by examining variability in both phase and amplitude. Subjects were 50 typically developed native Swedish children and adults (28 females, 22 males, aged 5 to 31 yr). Lip movements were recorded during 15 to 20 repetitions of a short Swedish phrase using three-dimensional articulography. After correction for head movements, the kinematic records were expressed in a maxilla-based coordinate system. Movement onset and offset of the utterance were identified using kinematic landmarks. The Euclidean distance between receivers on the upper and lower lips was calculated and subjected to functional data analysis to assess both phase and amplitude variability. Results show a decrease in both indices as a function of age, with a greater reduction of amplitude variability. There was no difference between males and females for either index. The two indices were moderately correlated with each other, suggesting that they capture different aspects of speech production. Utterance duration also decreased with age, but variability was unrelated to duration. The standard deviation of utterance duration also decreased with age. The present results thus suggest that age related changes in speech motor control continue up until 30 years of age.

  18. Parkinson Disease: Treating Symptoms Unrelated to Muscle Movement

    MedlinePlus

    ... Evidence-based Guideline for PATIENTS and their FAMILIES PARKINSON DISEASE: TREATING SYMPTOMS UNRELATED TO MUSCLE MOVEMENT This fact sheet may help you understand which therapies help Parkinson disease (PD) symptoms unrelated to muscle movement. Neurologists from ...

  19. Effects of perceptual similarity but not semantic association on false recognition in aging

    PubMed Central

    Gill, Emma

    2017-01-01

    This study investigated semantic and perceptual influences on false recognition in older and young adults in a variant on the Deese-Roediger-McDermott paradigm. In two experiments, participants encoded intermixed sets of semantically associated words, and sets of unrelated words. Each set was presented in a shared distinctive font. Older adults were no more likely to falsely recognize semantically associated lure words compared to unrelated lures also presented in studied fonts. However, they showed an increase in false recognition of lures which were related to studied items only by a shared font. This increased false recognition was associated with recollective experience. The data show that older adults do not always rely more on prior knowledge in episodic memory tasks. They converge with other findings suggesting that older adults may also be more prone to perceptually-driven errors. PMID:29302398

  20. The awakening of the attention: Evidence for a link between the monitoring of mind wandering and prospective goals.

    PubMed

    Seli, Paul; Smilek, Daniel; Ralph, Brandon C W; Schacter, Daniel L

    2018-03-01

    Across 2 independent samples, we examined the relation between individual differences in rates of self-caught mind wandering and individual differences in temporal monitoring of an unrelated response goal. Rates of self-caught mind wandering were assessed during a commonly used sustained-attention task, and temporal goal monitoring was indexed during a well-established prospective-memory task. The results from both samples showed a positive relation between rates of self-caught mind wandering during the sustained-attention task and rates of checking a clock to monitor the amount of time remaining before a response was required in the prospective-memory task. This relation held even when controlling for overall propensity to mind-wander (indexed by intermittent thought probes) and levels of motivation (indexed by subjective reports). These results suggest the possibility that there is a common monitoring system that monitors the contents of consciousness and the progress of ongoing goals and tasks. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  1. Look who's talking! Facial appearance can bias source monitoring.

    PubMed

    Nash, Robert A; Bryer, Olwen M; Schlaghecken, Friederike

    2010-05-01

    When we see a stranger's face we quickly form impressions of his or her personality, and expectations of how the stranger might behave. Might these intuitive character judgements bias source monitoring? Participants read headlines "reported" by a trustworthy- and an untrustworthy-looking reporter. Subsequently, participants recalled which reporter provided each headline. Source memory for likely-sounding headlines was most accurate when a trustworthy-looking reporter had provided the headlines. Conversely, source memory for unlikely-sounding headlines was most accurate when an untrustworthy-looking reporter had provided the headlines. This bias appeared to be driven by the use of decision criteria during retrieval rather than differences in memory encoding. Nevertheless, the bias was apparently unrelated to variations in subjective confidence. These results show for the first time that intuitive, stereotyped judgements of others' appearance can bias memory attributions analogously to the biases that occur when people receive explicit information to distinguish sources. We suggest possible real-life consequences of these stereotype-driven source-monitoring biases.

  2. Immunosenescence Induced by Plasma from Individuals with Obesity Caused Cell Signaling Dysfunction and Inflammation.

    PubMed

    Parisi, Mariana Migliorini; Grun, Lucas Kich; Lavandoski, Patrícia; Alves, Letícia Biscaino; Bristot, Ivi Juliana; Mattiello, Rita; Mottin, Cláudio Corá; Klamt, Fábio; Jones, Marcus Herbert; Padoin, Alexandre Vontobel; Guma, Fátima Costa Rodrigues; Barbé-Tuana, Florencia María

    2017-09-01

    To evaluate the consequences of plasma from individuals with obesity on parameters associated with immunosenescence in unrelated healthy peripheral blood mononuclear cells (PBMC). Freshly isolated PBMC were incubated in media supplemented with 10% of plasma from individuals with obesity or control subjects for the first 4 hours of 24 to 120 hours of culture. Plasma from individuals with obesity modulated the phenotype of healthy PBMC, leading to a higher rate of apoptosis, lower amounts of phospho-γH2AX and -p53, and mitochondrial dysfunction. After 120 hours, there was a higher secretion of inflammatory cytokines IL-1β and IL-8. CD8 + T lymphocytes presented decreased expression of CD28, which is associated with the immunosenescent phenotype. CD14 + macrophages showed increased expression of CD80 and CD206, suggesting a modulation in the activation of macrophages. These results demonstrate that chronic systemic inflammation observed in obesity induces dysfunctional features in PBMC that are consistent with premature immunosenescence. © 2017 The Obesity Society.

  3. Déjà vu experiences in healthy subjects are unrelated to laboratory tests of recollection and familiarity for word stimuli.

    PubMed

    O'Connor, Akira R; Moulin, Chris J A

    2013-01-01

    Recent neuropsychological and neuroscientific research suggests that people who experience more déjà vu display characteristic patterns in normal recognition memory. We conducted a large individual differences study (n = 206) to test these predictions using recollection and familiarity parameters recovered from a standard memory task. Participants reported déjà vu frequency and a number of its correlates, and completed a recognition memory task analogous to a Remember-Know procedure. The individual difference measures replicated an established correlation between déjà vu frequency and frequency of travel, and recognition performance showed well-established word frequency and accuracy effects. Contrary to predictions, no relationships were found between déjà vu frequency and recollection or familiarity memory parameters from the recognition test. We suggest that déjà vu in the healthy population reflects a mismatch between errant memory signaling and memory monitoring processes not easily characterized by standard recognition memory task performance.

  4. Déjà vu experiences in healthy subjects are unrelated to laboratory tests of recollection and familiarity for word stimuli

    PubMed Central

    O’Connor, Akira R.; Moulin, Chris J. A.

    2013-01-01

    Recent neuropsychological and neuroscientific research suggests that people who experience more déjà vu display characteristic patterns in normal recognition memory. We conducted a large individual differences study (n = 206) to test these predictions using recollection and familiarity parameters recovered from a standard memory task. Participants reported déjà vu frequency and a number of its correlates, and completed a recognition memory task analogous to a Remember-Know procedure. The individual difference measures replicated an established correlation between déjà vu frequency and frequency of travel, and recognition performance showed well-established word frequency and accuracy effects. Contrary to predictions, no relationships were found between déjà vu frequency and recollection or familiarity memory parameters from the recognition test. We suggest that déjà vu in the healthy population reflects a mismatch between errant memory signaling and memory monitoring processes not easily characterized by standard recognition memory task performance. PMID:24409159

  5. Ambitions fulfilled? The effects of intrinsic and extrinsic goal attainment on older adults' ego-integrity and death attitudes.

    PubMed

    Van Hiel, Alain; Vansteenkiste, Maarten

    2009-01-01

    The present research examined the effects of intrinsic and extrinsic goal attainment on older adults' ego-integrity, psychological well-being, and death attitudes. Hypotheses were derived from Self-Determination Theory (SDT; Deci & Ryan, 2000; Vansteenkiste, Ryan, & Deci, in press). Study 1 (N = 202, Mean age = 68.2 years) indicated that, after controlling for extrinsic goal attainment, intrinsic goal attainment contributed positively to subjective well-being and ego-integrity and negatively to despair, whereas extrinsic goal attainment was unrelated to psychological health and contributed positively to despair. Study 2 (N = 213, Mean age = 75.2 years) replicated and extended these results, showing that intrinsic goal attainment contributed to the acceptance of one's own death, lower ill-being, and less death anxiety, whereas extrinsic goal attainment was negatively associated with death acceptance. It is argued that the attainment of intrinsic goals is related to better psychological health, because intrinsic goals are more conducive to the satisfaction of basic psychological needs.

  6. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Cole, K.C.; Noel, D.; Hechler, J.-J.

    Samples of Narmco Rigidite 5208/WC3000 carbon-epoxy composite prepreg were exposed to ambient temperature and 50 percent relative humidity for different periods up to 66 days. The aging has a significant effect on prepreg physical properties such as tack, volatiles content, and gel time. A set of four-ply laminates made from aged prepreg was subjected to tensile testing, ultrasonic inspection, and optothermal inspection. No relationship could be discerned between laminate properties and prepreg aging time. However, variations in panel homogeneity were observed, and these correlated with thermal diffusivity and tensile modulus measurements, but not with ultimate tensile strength or elongation. Amore » set of six-ply laminates was used to measure compressive properties, interlaminar shear strength, and physical properties. These panels also showed variations in porosity, again unrelated to aging, but in addition, the fiber-resin ratio was observed to decrease with aging time. Both factors were found to affect mechanical properties. The implications concerning the importance of monitoring the aging by physicochemical methods are discussed. 30 refs.« less

  7. Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.

    PubMed

    Sue, C M; Mitchell, P; Crimmins, D S; Moshegov, C; Byrne, E; Morris, J G

    1997-10-01

    Fourteen patients from four unrelated families were studied to determine the prevalence of retinal pigmentary abnormalities associated with the MELAS A to G 3243 point mutation. Neurologic and ophthalmic examinations, retinal photography, pattern shift visual evoked potentials, and electroretinography were performed in all patients. Eight of the 14 patients had retinal pigmentary abnormalities characterized by symmetric areas of depigmentation involving predominantly the posterior pole and midperipheral retina. None of the patients had optic atrophy and only one patient with pigmentary retinal abnormalities had impaired visual acuity. None of the diabetic subjects (n = 6) had signs of diabetic retinopathy. Fluorescein angiography demonstrated mottled hyper- and hypofluorescent areas indicating multiple window defects in the retinal pigmentary epithelium. Visual evoked potentials showed delayed P100 responses in four of the eight patients with retinal pigmentary abnormalities. We conclude that there is a high prevalence of retinal pigmentary abnormalities in patients with MELAS A to G 3243 point mutation. These abnormalities are usually asymptomatic and best detected by retinal photography.

  8. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

    PubMed Central

    Deenick, Elissa K.; Niemela, Julie E.; Avery, Danielle T.; Schickel, Jean-Nicolas; Tran, Dat Q.; Stoddard, Jennifer; Zhang, Yu; Frucht, David M.; Dumitriu, Bogdan; Scheinberg, Phillip; Folio, Les R.; Frein, Cathleen A.; Price, Susan; Koh, Christopher; Heller, Theo; Seroogy, Christine M.; Huttenlocher, Anna; Rao, V. Koneti; Su, Helen C.; Kleiner, David; Notarangelo, Luigi D.; Rampertaap, Yajesh; Olivier, Kenneth N.; McElwee, Joshua; Hughes, Jason; Pittaluga, Stefania; Oliveira, Joao B.; Meffre, Eric; Fleisher, Thomas A.; Holland, Steven M.; Lenardo, Michael J.; Tangye, Stuart G.; Uzel, Gulbu

    2015-01-01

    Cytotoxic T lymphocyte antigen–4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3+ regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs. Patients also exhibited progressive loss of circulating B cells, associated with an increase of predominantly autoreactive CD21lo B cells and accumulation of B cells in nonlymphoid organs. Inherited human CTLA4 haploinsufficiency demonstrates a critical quantitative role for CTLA-4 in governing T and B lymphocyte homeostasis. PMID:25213377

  9. Contribution of SHANK3 Mutations to Autism Spectrum Disorder

    PubMed Central

    Moessner, Rainald ; Marshall, Christian R. ; Sutcliffe, James S. ; Skaug, Jennifer ; Pinto, Dalila ; Vincent, John ; Zwaigenbaum, Lonnie ; Fernandez, Bridget ; Roberts, Wendy ; Szatmari, Peter ; Scherer, Stephen W. 

    2007-01-01

    Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing. PMID:17999366

  10. Computation of ancestry scores with mixed families and unrelated individuals.

    PubMed

    Zhou, Yi-Hui; Marron, James S; Wright, Fred A

    2018-03-01

    The issue of robustness to family relationships in computing genotype ancestry scores such as eigenvector projections has received increased attention in genetic association, and is particularly challenging when sets of both unrelated individuals and closely related family members are included. The current standard is to compute loadings (left singular vectors) using unrelated individuals and to compute projected scores for remaining family members. However, projected ancestry scores from this approach suffer from shrinkage toward zero. We consider two main novel strategies: (i) matrix substitution based on decomposition of a target family-orthogonalized covariance matrix, and (ii) using family-averaged data to obtain loadings. We illustrate the performance via simulations, including resampling from 1000 Genomes Project data, and analysis of a cystic fibrosis dataset. The matrix substitution approach has similar performance to the current standard, but is simple and uses only a genotype covariance matrix, while the family-average method shows superior performance. Our approaches are accompanied by novel ancillary approaches that provide considerable insight, including individual-specific eigenvalue scree plots. © 2017 The Authors. Biometrics published by Wiley Periodicals, Inc. on behalf of International Biometric Society.

  11. Semantic and Syntactic Associations During Word Search Modulate the Relationship Between Attention and Subsequent Memory.

    PubMed

    Zhou, Wei; Mo, Fei; Zhang, Yunhong; Ding, Jinhong

    2017-01-01

    Two experiments were conducted to investigate how linguistic information influences attention allocation in visual search and memory for words. In Experiment 1, participants searched for the synonym of a cue word among five words. The distractors included one antonym and three unrelated words. In Experiment 2, participants were asked to judge whether the five words presented on the screen comprise a valid sentence. The relationships among words were sentential, semantically related or unrelated. A memory recognition task followed. Results in both experiments showed that linguistically related words produced better memory performance. We also found that there were significant interactions between linguistic relation conditions and memorization on eye-movement measures, indicating that good memory for words relied on frequent and long fixations during search in the unrelated condition but to a much lesser extent in linguistically related conditions. We conclude that semantic and syntactic associations attenuate the link between overt attention allocation and subsequent memory performance, suggesting that linguistic relatedness can somewhat compensate for a relative lack of attention during word search.

  12. Mate choice promotes inbreeding avoidance in the two-spotted spider mite.

    PubMed

    Tien, N S H; Massourakis, G; Sabelis, M W; Egas, M

    2011-06-01

    Since inbreeding in Tetranychus urticae can reduce offspring fitness, sexual selection may favour disassortative mate choice with respect to relatedness of the mating partners. We tested whether T. urticae shows this preference for mating with unrelated partners. We chose an experimental set-up with high potential for female choosiness, since females only mate once and are therefore expected to be the choosier gender. An adult virgin female was placed together with two adult males from the same population. One male was unrelated and the other male was related-a brother with whom she had grown up. Significantly more copulations (64%) took place with the unrelated male. Time to mating did not depend on the female-to-male relatedness. The remaining (non-copulating) male tried to interfere with the ongoing mating in the majority of cases, but this interference did not depend on the female-to-male relatedness. These results imply that T. urticae (a) can recognize kin (via genetic and/or environmental similarity) and (b) has the potential to avoid inbreeding through mate choice.

  13. Unrelated cord blood transplantation vs. related transplantation with HLA 1-antigen mismatch in the GVH direction.

    PubMed

    Kanda, Junya

    2015-05-01

    The donor selection superiority of HLA 1-antigen mismatched related donor versus unrelated cord blood (UCB) is an important issue for patients without an HLA-matched related or unrelated donor. Using Japanese registry data, we analyzed patients with leukemia and myelodysplastic syndrome who received transplantation using UCB or from a related donor with 1-antigen mismatch in the graft-versus-host (GVH) direction (RD/1AG-MM-GVH). Compared to the UCB group, neutrophil engraftment was significantly faster, and the incidences of acute and chronic GVHD were significantly higher in the RD/1AG-MM-GVH group. As a result, there was no significant difference in overall survival between transplantation using the RD/1AG-MM-GVH and UCB. However, the HLA-B-antigen mismatched group showed significantly inferior overall survival. The RD/1AG-MM-GVH group using anti-thymocyte globulin (ATG) showed neutrophil engraftment comparable to that of the non-ATG group and a GVHD incidence similar to that of the UCB group, which resulted in a better overall survival rate in the ATG than in the UCB group. In particular, the adverse effects of HLA-B mismatch were not observed in the ATG group. RD/1AGMM-GVH transplantation using ATG could potentially improve outcomes, and a prospective study of RD/1AGMM-GVH transplantation using low-dose ATG is currently ongoing.

  14. Does N200 reflect semantic processing?--An ERP study on Chinese visual word recognition.

    PubMed

    Du, Yingchun; Zhang, Qin; Zhang, John X

    2014-01-01

    Recent event-related potential research has reported a N200 response or a negative deflection peaking around 200 ms following the visual presentation of two-character Chinese words. This N200 shows amplitude enhancement upon immediate repetition and there has been preliminary evidence that it reflects orthographic processing but not semantic processing. The present study tested whether this N200 is indeed unrelated to semantic processing with more sensitive measures, including the use of two tasks engaging semantic processing either implicitly or explicitly and the adoption of a within-trial priming paradigm. In Exp. 1, participants viewed repeated, semantically related and unrelated prime-target word pairs as they performed a lexical decision task judging whether or not each target was a real word. In Exp. 2, participants viewed high-related, low-related and unrelated word pairs as they performed a semantic task judging whether each word pair was related in meaning. In both tasks, semantic priming was found from both the behavioral data and the N400 ERP responses. Critically, while repetition priming elicited a clear and large enhancement on the N200 response, semantic priming did not show any modulation effect on the same response. The results indicate that the N200 repetition enhancement effect cannot be explained with semantic priming and that this specific N200 response is unlikely to reflect semantic processing.

  15. Late Complications in acute Leukemia patients following HSCT: A single center experience

    PubMed Central

    Vaezi, Mohammad; Gharib, Cyrous; Souri, Maryam; Ghavamzadeh, Ardeshir

    2016-01-01

    Background: Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for acute leukemia. As HSCT improves the long-term survival, it is necessary to assess the late-onset complications affecting the quality of life following HSCT. Subjects and Methods: The study included 122 patients (65 male, 57 female) with leukemia (72 AML and 50 ALL) who received transplants from fully- matched siblings, unrelated donors and unrelated cord blood donors between February 2013 and August 2014 in Shariati Hospital. All study participants were over 18 years of age and had the minimum and maximum survival of 2 and 5 years, respectively. Patients who received HLA-haploidentical SCT were excluded from the study. All allogeneic recipients received busulfan and cyclophosphamide as conditioning regimen. Nobody received TBI-based conditioning regimen in this study. Patients were evaluated for cardiovascular, vision, psychological, endocrine, fertility problems and secondary malignancies one year after transplantation. Results : Data were analyzed using SPSS 15.0. Mitral and tricuspid regurgitation (TR/MR) were the most common cardiac complications (n=12, 10.5%).Thirty-nine percent of patients had psychological problems, especially depression (34%). Cataract was observed in 13% of patients and 34% complained of dry eye. Symptomatic pulmonary changes were found in 13 patients (10.6%). None of the HSCT survivors had experienced fertility before study entry. According to LH and FSH levels, 15% and 9% of females had ovarian failure, respectively. Testosterone level was less than normal in 49(84%) men and, according to their FSH and LH level, 20 (41%) had secondary hypogonadism and 29 (59%) had primary gonadal dysfunction. Conclusion: The results showed that patients who received Bu/Cy conditioning regimen experienced fewer late side effects such as cataract formation and hypothyroidism, compared to previous studies using TBI-based conditioning regimen. PMID:27047644

  16. Sperm quality but not relatedness predicts sperm competition success in threespine sticklebacks (Gasterosteus aculeatus).

    PubMed

    Mehlis, Marion; Rahn, Anna K; Bakker, Theo C M

    2015-04-26

    Mating between close relatives often leads to a reduction of an individual's fitness, due to an increased expression of deleterious alleles. Thus, in many animal taxa pre- as well as postcopulatory inbreeding avoidance mechanisms have evolved. An increased risk of inbreeding and hence a loss of genetic variation may occur during founder events as in most cases only few individuals establish a new population. The threespine stickleback (Gasterosteus aculeatus) is a small externally fertilizing fish species subject to strong sperm competition. Sticklebacks inhabit both marine and freshwater environments and anadromous populations have repeatedly established new genetically less diverse freshwater populations. Previous studies showed that anadromous sticklebacks strongly suffer from inbreeding depression and when given the choice females prefer to mate with unrelated males. The present study aimed to address whether there exists a postcopulatory inbreeding avoidance mechanism solely based on sperm-egg interactions in sperm competition experiments. We used F1 individuals that originated either from a large, genetically heterogeneous anadromous population or from a small, genetically less diverse freshwater population. For each population, eggs of two different females were in vitro fertilized by the same two males' sperm in a paired study design. In the main experiment one male was the female's full-sib brother and in the control experiment all individuals were unrelated. The results revealed that fertilization success was independent of relatedness in both populations suggesting a general lack of a postcopulatory inbreeding avoidance mechanism. Instead, male quality (i.e. sperm morphology) predicted paternity success during competitive fertilization trials. In sticklebacks, there is no evidence for postcopulatory inbreeding avoidance. Sperm morphology predicted paternity instead, thus sperm quality traits are under strong sexual selection, presumably driven by the high risk of sperm competition under natural conditions.

  17. Orangutans (Pongo pygmaeus and Pongo abelii) understand connectivity in the skewered grape tool task.

    PubMed

    Mulcahy, Nicholas J; Schubiger, Michèle N; Suddendorf, T

    2013-02-01

    Great apes appear to have limited knowledge of tool functionality when they are presented with tasks that involve a physical connection between a tool and a reward. For instance, they fail to understand that pulling a rope with a reward tied to its end is more beneficial than pulling a rope that only touches a reward. Apes show more success when both ropes have rewards tied to their ends but one rope is nonfunctional because it is clearly separated into aligned sections. It is unclear, however, whether this success is based on perceptual features unrelated to connectivity, such as perceiving the tool's separate sections as independent tools rather than one discontinuous tool. Surprisingly, there appears to be no study that has tested any type of connectivity problem using natural tools made from branches with which wild and captive apes often have extensive experience. It is possible that such ecologically valid tools may better help subjects understand connectivity that involves physical attachment. In this study, we tested orangutans with natural tools and a range of connectivity problems that involved the physical attachment of a reward on continuous and broken tools. We found that the orangutans understood tool connectivity involving physical attachment that apes from other studies failed when tested with similar tasks using artificial as opposed to natural tools. We found no evidence that the orangutans' success in broken tool conditions was based on perceptual features unrelated to connectivity. Our results suggest that artificial tools may limit apes' knowledge of connectivity involving physical attachment, whereas ecologically valid tools may have the opposite effect. PsycINFO Database Record (c) 2013 APA, all rights reserved

  18. Conflict Misleads Large Carnivore Management and Conservation: Brown Bears and Wolves in Spain.

    PubMed

    Fernández-Gil, Alberto; Naves, Javier; Ordiz, Andrés; Quevedo, Mario; Revilla, Eloy; Delibes, Miguel

    2016-01-01

    Large carnivores inhabiting human-dominated landscapes often interact with people and their properties, leading to conflict scenarios that can mislead carnivore management and, ultimately, jeopardize conservation. In northwest Spain, brown bears Ursus arctos are strictly protected, whereas sympatric wolves Canis lupus are subject to lethal control. We explored ecological, economic and societal components of conflict scenarios involving large carnivores and damages to human properties. We analyzed the relation between complaints of depredations by bears and wolves on beehives and livestock, respectively, and bear and wolf abundance, livestock heads, number of culled wolves, amount of paid compensations, and media coverage. We also evaluated the efficiency of wolf culling to reduce depredations on livestock. Bear damages to beehives correlated positively to the number of female bears with cubs of the year. Complaints of wolf predation on livestock were unrelated to livestock numbers; instead, they correlated positively to the number of wild ungulates harvested during the previous season, the number of wolf packs, and to wolves culled during the previous season. Compensations for wolf complaints were fivefold higher than for bears, but media coverage of wolf damages was thirtyfold higher. Media coverage of wolf damages was unrelated to the actual costs of wolf damages, but the amount of news correlated positively to wolf culling. However, wolf culling was followed by an increase in compensated damages. Our results show that culling of the wolf population failed in its goal of reducing damages, and suggest that management decisions are at least partly mediated by press coverage. We suggest that our results provide insight to similar scenarios, where several species of large carnivores share the landscape with humans, and management may be reactive to perceived conflicts.

  19. Conflict Misleads Large Carnivore Management and Conservation: Brown Bears and Wolves in Spain

    PubMed Central

    Fernández-Gil, Alberto; Naves, Javier; Ordiz, Andrés; Quevedo, Mario; Revilla, Eloy; Delibes, Miguel

    2016-01-01

    Large carnivores inhabiting human-dominated landscapes often interact with people and their properties, leading to conflict scenarios that can mislead carnivore management and, ultimately, jeopardize conservation. In northwest Spain, brown bears Ursus arctos are strictly protected, whereas sympatric wolves Canis lupus are subject to lethal control. We explored ecological, economic and societal components of conflict scenarios involving large carnivores and damages to human properties. We analyzed the relation between complaints of depredations by bears and wolves on beehives and livestock, respectively, and bear and wolf abundance, livestock heads, number of culled wolves, amount of paid compensations, and media coverage. We also evaluated the efficiency of wolf culling to reduce depredations on livestock. Bear damages to beehives correlated positively to the number of female bears with cubs of the year. Complaints of wolf predation on livestock were unrelated to livestock numbers; instead, they correlated positively to the number of wild ungulates harvested during the previous season, the number of wolf packs, and to wolves culled during the previous season. Compensations for wolf complaints were fivefold higher than for bears, but media coverage of wolf damages was thirtyfold higher. Media coverage of wolf damages was unrelated to the actual costs of wolf damages, but the amount of news correlated positively to wolf culling. However, wolf culling was followed by an increase in compensated damages. Our results show that culling of the wolf population failed in its goal of reducing damages, and suggest that management decisions are at least partly mediated by press coverage. We suggest that our results provide insight to similar scenarios, where several species of large carnivores share the landscape with humans, and management may be reactive to perceived conflicts. PMID:26974962

  20. Subliminal semantic priming in speech.

    PubMed

    Daltrozzo, Jérôme; Signoret, Carine; Tillmann, Barbara; Perrin, Fabien

    2011-01-01

    Numerous studies have reported subliminal repetition and semantic priming in the visual modality. We transferred this paradigm to the auditory modality. Prime awareness was manipulated by a reduction of sound intensity level. Uncategorized prime words (according to a post-test) were followed by semantically related, unrelated, or repeated target words (presented without intensity reduction) and participants performed a lexical decision task (LDT). Participants with slower reaction times in the LDT showed semantic priming (faster reaction times for semantically related compared to unrelated targets) and negative repetition priming (slower reaction times for repeated compared to semantically related targets). This is the first report of semantic priming in the auditory modality without conscious categorization of the prime.

  1. Subliminal Semantic Priming in Speech

    PubMed Central

    Tillmann, Barbara; Perrin, Fabien

    2011-01-01

    Numerous studies have reported subliminal repetition and semantic priming in the visual modality. We transferred this paradigm to the auditory modality. Prime awareness was manipulated by a reduction of sound intensity level. Uncategorized prime words (according to a post-test) were followed by semantically related, unrelated, or repeated target words (presented without intensity reduction) and participants performed a lexical decision task (LDT). Participants with slower reaction times in the LDT showed semantic priming (faster reaction times for semantically related compared to unrelated targets) and negative repetition priming (slower reaction times for repeated compared to semantically related targets). This is the first report of semantic priming in the auditory modality without conscious categorization of the prime. PMID:21655277

  2. Impact of donor-specific anti-HLA antibodies on graft failure and survival after reduced intensity conditioning-unrelated cord blood transplantation: a Eurocord, Société Francophone d'Histocompatibilité et d'Immunogénétique (SFHI) and Société Française de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC) analysis.

    PubMed

    Ruggeri, Annalisa; Rocha, Vanderson; Masson, Emeline; Labopin, Myriam; Cunha, Renato; Absi, Lena; Boudifa, Ali; Coeffic, Brigitte; Devys, Anne; De Matteis, Muriel; Dubois, Valérie; Hanau, Daniel; Hau, Françoise; Jollet, Isabelle; Masson, Dominique; Pedron, Beatrice; Perrier, Pascale; Picard, Christophe; Ramouneau-Pigot, Annie; Volt, Fernanda; Charron, Dominique; Gluckman, Eliane; Loiseau, Pascale

    2013-07-01

    Graft failure is a major complication after unrelated cord blood transplantation. Presence of HLA-antibodies before cord blood transplantation may impact graft failure. To analyze the effect of anti-HLA antibodies on unrelated cord blood transplantation outcomes, we analyzed 294 unrelated cord blood transplant recipients after reduced intensity conditioning regimen. The majority of the patients (82%) were transplanted for malignancies, 60% with double-unrelated cord blood transplant, 63% were HLA mismatched. Retrospectively, pre-unrelated cord blood transplant serum was tested for HLA-Ab using Luminex™ platform. Results were interpreted as mean fluorescence intensity (MFI) against donor-specific mismatch. Among 62 recipients (23%) who had anti-HLA antibodies before unrelated cord blood transplant, 14 patients had donor specific anti-HLA antibodies (DSA) (7 were donor-specific anti-HLA antibodies for single unrelated cord blood transplant and 7 for double unrelated cord blood transplant). Donor specific anti-HLA antibodies threshold ranged from 1620-17629 of mean fluorescence intensity (MFI). Cumulative incidence of Day-60 neutrophil engraftment was 76%: 44% for recipients with donor specific anti-HLA antibodies and 81% in those without donor specific anti-HLA antibodies (P=0.006). The cumulative incidence of 1-year transplant related mortality was 46% in patients with donor specific anti-HLA antibodies and 32% in those without antibodies (P=0.06). The presence of donor specific anti-HLA antibodies was associated with a trend for decreased survival rate (42% vs. 29%; P=0.07). Donor specific anti-HLA antibody in recipients of unrelated cord blood transplant is associated with graft failure and decreased survival. Patient's screening for donor specific anti-HLA antibodies before unrelated cord blood transplantation is recommended before choosing an HLA mismatched cord blood unit. Whenever possible it is important to avoid selecting a unit for which the patient has donor specific anti-HLA antibodies.

  3. Visual pathways from the perspective of cost functions and multi-task deep neural networks.

    PubMed

    Scholte, H Steven; Losch, Max M; Ramakrishnan, Kandan; de Haan, Edward H F; Bohte, Sander M

    2018-01-01

    Vision research has been shaped by the seminal insight that we can understand the higher-tier visual cortex from the perspective of multiple functional pathways with different goals. In this paper, we try to give a computational account of the functional organization of this system by reasoning from the perspective of multi-task deep neural networks. Machine learning has shown that tasks become easier to solve when they are decomposed into subtasks with their own cost function. We hypothesize that the visual system optimizes multiple cost functions of unrelated tasks and this causes the emergence of a ventral pathway dedicated to vision for perception, and a dorsal pathway dedicated to vision for action. To evaluate the functional organization in multi-task deep neural networks, we propose a method that measures the contribution of a unit towards each task, applying it to two networks that have been trained on either two related or two unrelated tasks, using an identical stimulus set. Results show that the network trained on the unrelated tasks shows a decreasing degree of feature representation sharing towards higher-tier layers while the network trained on related tasks uniformly shows high degree of sharing. We conjecture that the method we propose can be used to analyze the anatomical and functional organization of the visual system and beyond. We predict that the degree to which tasks are related is a good descriptor of the degree to which they share downstream cortical-units. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Incidence and risk factors of HPV-related and HPV-unrelated Head and Neck Squamous Cell Carcinoma in HIV-infected individuals.

    PubMed

    Beachler, Daniel C; Abraham, Alison G; Silverberg, Michael J; Jing, Yuezhou; Fakhry, Carole; Gill, M John; Dubrow, Robert; Kitahata, Mari M; Klein, Marina B; Burchell, Ann N; Korthuis, P Todd; Moore, Richard D; D'Souza, Gypsyamber

    2014-12-01

    To examine the risk and trends of HPV-related and HPV-unrelated Head and Neck Squamous Cell Carcinoma (HNSCC) in HIV-infected individuals and assess whether immunosuppression (measured through CD4 cell count) and other risk factors impact HNSCC risk. Incident HNSCCs at HPV-related and HPV-unrelated anatomic sites were detected in HIV-infected participants from pooled data from 17 prospective studies in the North American AIDS Cohort Collaboration on Research and Design (NA-ACCORD) between 1996 and 2009. HNSCC cases were validated using chart review or cancer registry matching. Risk factors for incident HPV-related and HPV-unrelated HNSCC were explored using mixed effects Poisson regression in a full prospective analysis, and the effect of CD4 prior to cancer diagnosis was examined in a nested case control analysis. 66 HPV-related and 182 HPV-unrelated incident HNSCCs were detected among 82,375 HIV-infected participants. Standardized incidence ratios (SIRs) for both HPV-related (SIR=3.2, 95%CI=2.5-3.4) and HPV-unrelated (SIR=3.0, 95%CI=2.5-4.1) HNSCC were significantly elevated in HIV-infected individuals compared with the US general population. Between 1996 and 2009, the age-standardized HPV-related HNSCC incidence increased non-significantly from 6.8 to 11.4per 100,000 person-years (p-trend=0.31) while the age-standardized incidence of HPV-unrelated HNSCC decreased non-significantly from 41.9 to 29.3 per 100,000 person-years (p-trend=0.16). Lower CD4 cell count prior to cancer diagnosis was significantly associated with increased HPV-related and HPV-unrelated HNSCC risk. The standardized incidence of HPV-related and HPV-unrelated HNSCC are both elevated in HIV-infected individuals. Immunosuppression may have a role in the development of both HPV-related and HPV-unrelated HNSCC. Copyright © 2014 Elsevier Ltd. All rights reserved.

  5. A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia

    PubMed Central

    2014-01-01

    Background GWAS have consistently revealed that LDLR locus variability influences LDL-cholesterol in general population. Severe LDLR mutations are responsible for familial hypercholesterolemia (FH). However, most primary hypercholesterolemias are polygenic diseases. Although Cis-regulatory regions might be the cause of LDL-cholesterol variability; an extensive analysis of the LDLR distal promoter has not yet been performed. We hypothesized that genetic variants in this region are responsible for the LDLR association with LDL-cholesterol found in GWAS. Methods Four-hundred seventy-seven unrelated subjects with polygenic hypercholesterolemia (PH) and without causative FH-mutations and 525 normolipemic subjects were selected. A 3103 pb from LDLR (-625 to +2468) was sequenced in 125 subjects with PH. All subjects were genotyped for 4 SNPs (rs17242346, rs17242739, rs17248720 and rs17249120) predicted to be potentially involved in transcription regulation by in silico analysis. EMSA and luciferase assays were carried out for the rs17248720 variant. Multivariable linear regression analysis using LDL-cholesterol levels as the dependent variable were done in order to find out the variables that were independently associated with LDL-cholesterol. Results The sequencing of the 125 PH subjects did not show variants with minor allele frequency ≥ 10%. The T-allele from g.3131C > T (rs17248720) had frequencies of 9% (PH) and 16.4% (normolipemic), p < 0.00001. Studies of this variant with EMSA and luciferase assays showed a higher affinity for transcription factors and an increase of 2.5 times in LDLR transcriptional activity (T-allele vs C-allele). At multivariate analysis, this polymorphism with the lipoprotein(a) and age explained ≈ 10% of LDL-cholesterol variability. Conclusion Our results suggest that the T-allele at the g.3131 T > C SNP is associated with LDL-cholesterol levels, and explains part of the LDL-cholesterol variability. As a plausible cause, the T-allele produces an increase in LDLR transcriptional activity and lower LDL-cholesterol levels. PMID:24708769

  6. Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.

    PubMed

    Kim, So-Hee; Mok, Jee-Won; Kim, Hyun-Seok; Joo, C K

    2008-01-01

    To investigate the genetic association between unrelated Korean keratoconus patients and interleukin 1 alpha (IL1A), interleukin 1 beta (IL1B), and IL1 receptor antagonist (IL1RN) gene polymorphisms. We investigated the association between IL1A (rs1800587, rs2071376, and rs17561), IL1B (rs1143627, rs16944, rs1143634, and rs1143633), and IL1RN (rs419598, rs423904, rs424078, and rs315952, variable number tandem repeat [VNTR]) polymorphisms in 100 unrelated Korean keratoconus patients. One hundred control individuals without any corneal disease were selected from the general population. Polymerase chain reaction (PCR) - restriction fragment length polymorphism (RFLP) analysis and direct sequencing were used to screen for genetic variations in the IL1 gene cluster. Haplotypes for the IL1 gene cluster were constructed using Haploview version 4.0. We analyzed a total of 12 polymorphic sites in the IL1 gene cluster. Among them, the -511 (rs16944) and -31 (rs1143627) positions in the promoter region of IL1B were significantly different between patient and control groups. The C allele of rs16944 (-511C>T, p=0.022, odds ratio of risk [OR]=1.46, 95% confidence intervals [CI] 0.94<2.27) and the T allele of rs1143627 (-31T>C, p=0.025, OR=1.43, 95% CI 0.92<2.22) were associated with a significantly increased risk of keratoconus in Korean patients. Linkage of the two alleles, -31*C and -511*T, was associated with an increased risk for keratoconus with OR=2.38 (p=0.012, 95% CI=1.116-5.046). The *C/*A genotype of rs2071376 in IL1A intron 6 was significantly different between the keratoconus patients and control subjects (p=0.034, OR=0.59, 95% CI 0.32<1.11). Other polymorphisms did not show an association with keratoconus risk. This is the first report of IL1 gene cluster mutation screening in Korean keratoconus patients. Significant differences in allelic frequency of IL1B between keratoconus patients and the control group suggest that IL1B polymorphisms may play a role in the susceptibility of unrelated Koreans to develop keratoconus.

  7. Open label study to assess the safety of VM202 in subjects with amyotrophic lateral sclerosis.

    PubMed

    Sufit, Robert L; Ajroud-Driss, Senda; Casey, Patricia; Kessler, John A

    2017-05-01

    To assess safety and define efficacy measures of hepatocyte growth factor (HGF) DNA plasmid, VM202, administered by intramuscular injections in patients with amyotrophic lateral sclerosis (ALS). Eighteen participants were treated with VM202 administered in divided doses by injections alternating between the upper and lower limbs on d 0, 7, 14, and 21. Subjects were followed for nine months to evaluate possible adverse events. Functional outcome was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R) as well as by serially measuring muscle strength, muscle circumference, and forced vital capacity. Seventeen of 18 participants completed the study. All participants tolerated 64 mg of VM202 well with no serious adverse events (SAE) related to the drug. Twelve participants reported 26 mild or moderate injection site reactions. Three participants experienced five SAEs unrelated to VM202. One subject died from respiratory insufficiency secondary to ALS progression. Multiple intramuscular injection of VM202 into the limbs appears safe in ALS subjects. Future trials with retreatment after three months will determine whether VM202 treatment alters the long-term course of ALS.

  8. Relationship between interpersonal sensitivity and leukocyte telomere length.

    PubMed

    Suzuki, Akihito; Matsumoto, Yoshihiko; Enokido, Masanori; Shirata, Toshinori; Goto, Kaoru; Otani, Koichi

    2017-10-10

    Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavior and feelings of others, is one of the vulnerable factors to depression. In the present study, we examined the effect of interpersonal sensitivity on telomere length in healthy subjects. The subjects were 159 unrelated healthy Japanese volunteers. Mean age ± SD (range) of the subjects was 42.3 ± 7.8 (30-61) years. Interpersonal sensitivity was assessed by the Japanese version of the Interpersonal Sensitivity Measure (IPSM). Leukocyte telomere length was determined by a quantitative real-time PCR method. Higher scores of the total IPSM were significantly (β = -0.163, p = 0.038) related to shorter telomere length. In the sub-scale analysis, higher scores of timidity were significantly (β = -0.220, p = 0.044) associated with shorter telomere length. The present study suggests that subjects with higher interpersonal sensitivity have shorter leukocyte telomere length, implying that interpersonal sensitivity has an impact on cellular aging.

  9. The energy of naturally curved elastic rods with an application to the stretching and contraction of a free helical spring as a model for DNA

    NASA Astrophysics Data System (ADS)

    Manning, Gerald S.

    2015-09-01

    We give a contemporary and direct derivation of a classical, but insufficiently familiar, result in the theory of linear elasticity—a representation for the energy of a stressed elastic rod with central axis that intrinsically takes the shape of a general space curve. We show that the geometric torsion of the space curve, while playing a crucial role in the bending energy, is physically unrelated to the elastic twist. We prove that the twist energy vanishes in the lowest-energy states of a rod subject to constraints that do not restrict the twist. The stretching and contraction energies of a free helical spring are computed. There are local high-energy minima. We show the possibility of using the spring to model the chirality of DNA. We then compare our results with an available atomic level energy simulation that was performed on DNA unconstrained in the same sense as the free spring. We find some possible reflections of springlike behavior in the mechanics of DNA, but, unsurprisingly, the base pairs lend a material substance to the core of DNA that a spring does not capture.

  10. The energy of naturally curved elastic rods with an application to the stretching and contraction of a free helical spring as a model for DNA.

    PubMed

    Manning, Gerald S

    2015-09-14

    We give a contemporary and direct derivation of a classical, but insufficiently familiar, result in the theory of linear elasticity-a representation for the energy of a stressed elastic rod with central axis that intrinsically takes the shape of a general space curve. We show that the geometric torsion of the space curve, while playing a crucial role in the bending energy, is physically unrelated to the elastic twist. We prove that the twist energy vanishes in the lowest-energy states of a rod subject to constraints that do not restrict the twist. The stretching and contraction energies of a free helical spring are computed. There are local high-energy minima. We show the possibility of using the spring to model the chirality of DNA. We then compare our results with an available atomic level energy simulation that was performed on DNA unconstrained in the same sense as the free spring. We find some possible reflections of springlike behavior in the mechanics of DNA, but, unsurprisingly, the base pairs lend a material substance to the core of DNA that a spring does not capture.

  11. Unifying Time to Contact Estimation and Collision Avoidance across Species

    PubMed Central

    Keil, Matthias S.; López-Moliner, Joan

    2012-01-01

    The -function and the -function are phenomenological models that are widely used in the context of timing interceptive actions and collision avoidance, respectively. Both models were previously considered to be unrelated to each other: is a decreasing function that provides an estimation of time-to-contact (ttc) in the early phase of an object approach; in contrast, has a maximum before ttc. Furthermore, it is not clear how both functions could be implemented at the neuronal level in a biophysically plausible fashion. Here we propose a new framework – the corrected modified Tau function – capable of predicting both -type (“”) and -type (“”) responses. The outstanding property of our new framework is its resilience to noise. We show that can be derived from a firing rate equation, and, as , serves to describe the response curves of collision sensitive neurons. Furthermore, we show that predicts the psychophysical performance of subjects determining ttc. Our new framework is thus validated successfully against published and novel experimental data. Within the framework, links between -type and -type neurons are established. Therefore, it could possibly serve as a model for explaining the co-occurrence of such neurons in the brain. PMID:22915999

  12. Differential Age Effects for Implicit and Explicit Conceptual Associative Memory

    PubMed Central

    Dew, Ilana T. Z.; Giovanello, Kelly S.

    2010-01-01

    Older adults show disproportionate declines in explicit memory for associative relative to item information. However, the source of these declines is still uncertain. One explanation is a generalized impairment in the processing of associative information. A second explanation is a more specialized impairment in the strategic, effortful recollection of associative information, leaving less effortful forms of associative retrieval preserved. Assessing implicit memory of new associations is a way to distinguish between these viewpoints. To date, mixed findings have emerged from studies of associative priming in aging. One factor that may account for the variability is whether the manipulations inadvertently involve strategic, explicit processes. In 2 experiments we present a novel paradigm of conceptual associative priming in which subjects make speeded associative judgments about unrelated objects. Using a size classification task, Experiment 1 showed equivalent associative priming between young and older adults. Experiment 2 generalized the results of Experiment 1 to an inside/outside classification task, while replicating the typical age-related impairment in associative but not item recognition. Taken together, the findings support the viewpoint that older adults can incidentally encode and retrieve new meaningful associations despite difficulty with the intentional recollection of the same information. PMID:21077717

  13. Amygdala volume and verbal memory performance in schizophrenia and bipolar disorder.

    PubMed

    Killgore, William D S; Rosso, Isabelle M; Gruber, Staci A; Yurgelun-Todd, Deborah A

    2009-03-01

    To clarify the relationship between amygdala-hippocampal volume and cognitive performance in schizophrenia and bipolar disorder. Abnormalities of the amygdala-hippocampal complex and memory deficits have been reported in both schizophrenia and bipolar illness. We examined memory performance and its relationship to the volumes of the whole brain, lateral ventricles, hippocampus, and amygdala using morphometric magnetic resonance imaging in 19 patients with schizophrenia, 11 bipolar patients, and 20 healthy controls. Schizophrenia patients performed more poorly than bipolar patients and controls on indices of memory functioning, whereas patients with bipolar disorder showed milder impairments relative to controls. The schizophrenia group showed reduced total cerebral volume and enlarged ventricles relative to controls, but no group differences were found for amygdala or hippocampal volume. Left amygdala volume was predictive of memory performance in both groups, correlating positively with better immediate and delayed verbal memory for bipolar patients and negatively with immediate and delayed verbal recall for schizophrenia patients. Amygdala volume was unrelated to memory performance in healthy subjects. Schizophrenia and bipolar disorder both seem to be associated with anomalous and differential limbic volume-function relationships, such that the amygdala may facilitate hippocampal-dependent memory processes in bipolar disorder but impair these same processes in schizophrenia.

  14. The energy of naturally curved elastic rods with an application to the stretching and contraction of a free helical spring as a model for DNA

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Manning, Gerald S., E-mail: jerrymanning@rcn.com

    We give a contemporary and direct derivation of a classical, but insufficiently familiar, result in the theory of linear elasticity—a representation for the energy of a stressed elastic rod with central axis that intrinsically takes the shape of a general space curve. We show that the geometric torsion of the space curve, while playing a crucial role in the bending energy, is physically unrelated to the elastic twist. We prove that the twist energy vanishes in the lowest-energy states of a rod subject to constraints that do not restrict the twist. The stretching and contraction energies of a free helicalmore » spring are computed. There are local high-energy minima. We show the possibility of using the spring to model the chirality of DNA. We then compare our results with an available atomic level energy simulation that was performed on DNA unconstrained in the same sense as the free spring. We find some possible reflections of springlike behavior in the mechanics of DNA, but, unsurprisingly, the base pairs lend a material substance to the core of DNA that a spring does not capture.« less

  15. Role of upper cervical spine in temporomandibular disorders.

    PubMed

    Raya, Cristian Rodolfo; Plaza-Manzano, Gustavo; Pecos-Martín, Daniel; Ferragut-Garcías, Alejandro; Martín-Casas, Patricia; Gallego-Izquierdo, Tomás; Romero-Franco, Natalia

    2017-11-06

    Temporomandibular disorders (TMDs) are prevalent multifactorial pathologies in which the actual role of the cervical region position is controversial. To analyze the relationship between the position of the upper cervical rachis and the symptoms of TMD. Sixty women were recruited to this study. All of them completed a questionnaire and were subjected to a temporomadibular exploration to create two different groups: a TMD Group (n= 30) - women who suffered TMD symptoms according to the evaluation; and a control group (n= 30) - women who were free from TMD symptoms. Two X-ray examinations were performed in all the women: a lateral one and a frontal one with mouth open to assess the C1-C0 distance and the craniocervical angle. ANOVA showed that the TMD and control women had similar C1-C0 distances and craniocervical angles (p> 0.05). Pearson correlation did not indicate any relationship between the craniocervical position and the symptomatology of TMD (r=- 0.070). TMD symptomatology is unrelated to alterations in craniocervical position (C0-C1 distance and craniocervical angle). Women with and without TMD showed a similar prevalence of alteration in the craniocervical position.

  16. Calmodulin Mutations Associated with Recurrent Cardiac Arrest in Infants

    PubMed Central

    Crotti, Lia; Johnson, Christopher N.; Graf, Elisabeth; De Ferrari, Gaetano M.; Cuneo, Bettina F.; Ovadia, Marc; Papagiannis, John; Feldkamp, Michael D.; Rathi, Subodh G.; Kunic, Jennifer D.; Pedrazzini, Matteo; Wieland, Thomas; Lichtner, Peter; Beckmann, Britt-Maria; Clark, Travis; Shaffer, Christian; Benson, D. Woodrow; Kääb, Stefan; Meitinger, Thomas; Strom, Tim M.; Chazin, Walter J.; Schwartz, Peter J.; George, Alfred L.

    2013-01-01

    Background Life-threatening disorders of heart rhythm may arise during infancy and can result in the sudden and tragic death of a child. We performed exome sequencing on two unrelated infants presenting with recurrent cardiac arrest to discover a genetic cause. Methods and Results We ascertained two unrelated infants (probands) with recurrent cardiac arrest and dramatically prolonged QTc interval who were both born to healthy parents. The two parent-child trios were investigated using exome sequencing to search for de novo genetic variants. We then performed follow-up candidate gene screening on an independent cohort of 82 subjects with congenital long-QT syndrome without an identified genetic cause. Biochemical studies were performed to determine the functional consequences of mutations discovered in two genes encoding calmodulin. We discovered three heterozygous de novo mutations in either CALM1 or CALM2, two of the three human genes encoding calmodulin, in the two probands and in two additional subjects with recurrent cardiac arrest. All mutation carriers were infants who exhibited life-threatening ventricular arrhythmias combined variably with epilepsy and delayed neurodevelopment. Mutations altered residues in or adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain. Recombinant mutant calmodulins exhibited several fold reductions in calcium binding affinity. Conclusions Human calmodulin mutations disrupt calcium ion binding to the protein and are associated with a life-threatening condition in early infancy. Defects in calmodulin function will disrupt important calcium signaling events in heart affecting membrane ion channels, a plausible molecular mechanism for potentially deadly disturbances in heart rhythm during infancy. PMID:23388215

  17. An Autologous Anti-Inflammatory Protein Solution Yielded a Favorable Safety Profile and Significant Pain Relief in an Open-Label Pilot Study of Patients with Osteoarthritis

    PubMed Central

    Hix, Jason; Klaassen, Mark; Foreman, Ryan; Cullen, Edith; Toler, Krista; King, William; Woodell-May, Jennifer

    2017-01-01

    Abstract Osteoarthritis (OA) is a progressive and degenerative disease, which may result in significant pain and decreased quality of life. Recent updates in our understanding of OA have demonstrated that it is a whole joint disease that has many similarities to an unhealed wound containing inflammatory cytokines. The nSTRIDE Autologous Protein Solution (APS) Kit is a medical device under development for the treatment of OA. The APS Kit processes a patient's own blood at the point of care to contain high concentrations of anti-inflammatory cytokines and anabolic growth factors. This study assessed the safety and treatment effects of a single intra-articular injection of APS. Eleven patients were enrolled in this study. Sufficient blood could not be drawn from one patient who was subsequently withdrawn, leaving 10 patients treated. Minor adverse events (AEs) were experienced by seven subjects (63.6%). There was one serious AE (diverticulitis) unrelated to the device or procedure. One subject experienced AEs that were judged “likely” to be procedure related (arthralgia/musculoskeletal discomfort) and all resolved within 6 days of injection. All other AEs were unrelated to the device or procedure. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) pain scores improved significantly over time (ANOVA, p < 0.0001, 12.0 ± 1.2 preinjection, 3.3 ± 2.9 one year postinjection, and 72.5% WOMAC pain improvement). There was significant positive correlation between white blood cell concentration in APS and improvement in WOMAC pain scores. PMID:29279807

  18. Assessing mercury health effects in gold workers near El Callao, Venezuela.

    PubMed

    Rojas, M; Drake, P L; Roberts, S M

    2001-02-01

    Mercury exposure and health status were examined in 40 gold workers in the area surrounding El Callao, Venezuela. Concentrations of mercury in workplace air were measured on 3 successive days, and spot urine and hair samples were also taken for analysis. Subjects underwent a physical examination and completed a questionnaire regarding employment history, work activities involving mercury exposure, use of protective clothing and equipment, and frequency of 37 symptoms associated with mercury toxicity. A complete set of health data was collected for 29 of the subjects. Use of protective equipment was limited, and 17.9%, 24.1%, and 48.3% of subjects had mercury concentrations in air, hair, and urine, respectively, above contemporary occupational exposure guidelines. Physical examination found the workers to be generally healthy and without overt symptoms of mercury toxicity. The frequency of psychoneurological, gastrointestinal, cardio-respiratory, and dermal symptoms was unrelated to any of the measures of mercury exposure. Two subjects had modestly elevated urinary levels of N-acetyl beta-D-glucosaminidase. Despite substantial occupational exposure to mercury among a number of the subjects, few adverse health effects were observed that were plausibly related to mercury.

  19. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families.

    PubMed

    Shetty, Priya B; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C; Kardia, Sharon L R; Hanis, Craig L; Arnett, Donna K; Hunt, Steven C; Boerwinkle, Eric; Rao, Dabeeru C; Cooper, Richard S; Risch, Neil; Zhu, Xiaofeng

    2015-02-01

    Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African Americans. The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. The analysis was performed in 1905 unrelated African American subjects from the National Heart, Lung and Blood Institute's Family Blood Pressure Program (FBPP). Regions showing admixture evidence were followed-up with family-based association analysis in 3556 African American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age(2), sex, body mass index, and genome-wide mean ancestry to minimize the confounding caused by population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (low-density lipoprotein cholesterol), 8 (high-density lipoprotein cholesterol), 14 (triglycerides), and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52 939 single-nucleotide polymorphisms (SNPs) were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with high-density lipoprotein cholesterol (2 SNPs), low-density lipoprotein cholesterol (4 SNPs), and triglycerides (5 SNPs). The family data were used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions, including genes with known associations for cardiovascular disease. This study identified regions on chromosomes 7, 8, 14, and 19 and 11 SNPs from the fine-mapping analysis that were associated with high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides for further studies of cardiovascular disease in African Americans. © 2014 American Heart Association, Inc.

  20. Effects of infrasound on vestibular function

    NASA Astrophysics Data System (ADS)

    Takigawa, H.; Sakamoto, H.; Murata, M.

    1991-12-01

    The present study was undertaken to elucidate subjective symptoms reported by some individuals exposed to various sounds, including infrasound. Narrow band infrasound of 5 Hz at center frequency and wide octave band audible noise were separately applied at an intensity of 95 dB. Parameters such as involuntary eye movement with the eyes visually fixed, body sway and pulse-wave were investigated. The total amount and power percentage in the low-frequency band of involuntary eye movement was significantly increased upon exposure to infrasound. Furthermore, confusion in postural control at the time of transition from opening to closing of the subject's eyes was inhibited by this exposure. Conversely, pulse-wave height decrement was observed upon exposure to both sounds, although this was smaller in the case of infrasound as compared with that of noise. These findings are taken to indicate that the effects taking place via the two different pathways were mixed in the subjective symptoms, and that functional changes caused by infrasound exposure were unrelated to an emotion stimulated by acoustical sensation.

  1. What's in a sentence? The crucial role of lexical content in sentence production in nonfluent aphasia.

    PubMed

    Speer, Paula; Wilshire, Carolyn E

    2013-01-01

    This study investigated the effect of lexical content on sentence production in nonfluent aphasia. Five participants with nonfluent aphasia, four with fluent aphasia, and eight controls were asked to describe pictured events in subject-verb-object sentences. Experiment 1 manipulated speed of lexical retrieval by varying the frequency of sentence nouns. Nonfluent participants' accuracy was consistently higher for sentences commencing with a high- than with a low-frequency subject noun, even when errors on those nouns were themselves excluded. This was not the case for the fluent participants. Experiment 2 manipulated the semantic relationship between subject and object nouns. The nonfluent participants produced sentences less accurately when they contained related than when they contained unrelated lexical items. The fluent participants exhibited the opposite trend. We propose that individuals with nonfluent aphasia are disproportionately reliant on activated conceptual-lexical representations to drive the sentence generation process, an idea we call the content drives structure (COST) hypothesis.

  2. Identification of a polymorphism in the transmembrane domain of the protooncogene c-kit in healthy subjects.

    PubMed

    Nagata, H; Worobec, A S; Metcalfe, D D

    1996-01-01

    c-Kit is the receptor for stem cell factor (SCF) and is found on hematopoietic stem cells, mast cells, melanocytes, and germ cells. Aggregation of c-Kit by SCF regulates cell proliferation, differentiation, and survival. In the process of examining c-Kit, a polymorphism in the transmembrane domain of the protooncogene c-Kit was identified. This polymorphism consisted of an A-to-C transversion at nucleotide (nt) 1642, and was deduced to substitute leucine for methionine at codon 541. The frequency of the allele with 'C' at nt 1642 was 0.09 in 64 unrelated subjects. Analysis of a two-generation family with the polymorphism suggested that this polymorphism did not result in disease. This is the first report of a polymorphism in the transmembrane domain of c-Kit, and may be of value in understanding and following the function of c-Kit in normal subjects and in those with other abnormalities of c-Kit.

  3. Carpal tunnel syndrome in the Turkish steel industry.

    PubMed

    Gedizlioglu, Muhtesem; Arpaci, Esra; Cevher, Demet; Ce, Pinar; Kulan, Can Ahmet; Colak, Ilhan; Duzgun, Baran

    2008-05-01

    Certain occupations are reported to be associated with a high risk for carpal tunnel syndrome (CTS). In this study, we investigated the development of CTS in iron-steel industry workers. Subjects were recruited from a factory of 650 workers and assessed by means of history, physical examination and electrophysiological testing. Seventy-nine subjects from the factory and 53 healthy controls with occupations unrelated to heavy physical work were assessed. None of the worker group had electrophysiological evidence of CTS. One subject in the control group has electrophysiological evidence of CTS. In the worker group, all sensory nerve conduction velocities and ulnar nerve action potential amplitudes in both hands and distal motor latencies were statistically different. In our study, among a group of heavy labourers, no cases of CTS were detected. However, all electrophysiologic parameters of workers were different from controls. Our results point to a diffuse, but subclinical injury of peripheral nerves under heavy physical work conditions, instead of a local effect such as CTS.

  4. Revista de Saúde Pública: 50 years disseminating the knowledge in nutrition

    PubMed Central

    Sichieri, Rosely; Pereira, Rosangela A

    2016-01-01

    ABSTRACT This work describes and comments on articles in the area of Public Health Nutrition published in Revista de Saúde Pública (RSP – Public Health Journal) from 1967 to 2016. We searched in the PubMed database restricted to the periodical “Revista de Saúde Pública” and using terms related to key topics in the area of Public Health Nutrition. We retrieved 742 articles and, after exclusion of duplicates and articles unrelated to the subject, we analyzed 441 articles, grouped according to subject: dental caries, anemia, hypovitaminosis A, macro/micronutrients, malnutrition, nutritional assessment, overweight/obesity, food consumption, low birthweight, and breastfeeding. We observed significant increase in the number of articles published and diversification of subjects addressed over the 50 years, representing the consistent development of the scientific field of Nutrition in Brazil. Since its inception, RSP has played an important role in the dissemination of knowledge about the main nutritional issues in Brazil. PMID:28099649

  5. 26 CFR 1.514(a)-1 - Unrelated debt-financed income and deductions.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Taxation of Business Income of Certain Exempt..., applicable for taxable years beginning before January 1, 1972, and for special rules applicable to churches or conventions or associations of churches. (ii) Unrelated debt-financed income. The unrelated debt...

  6. 26 CFR 1.1443-1 - Foreign tax-exempt organizations.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... unrelated business taxable income. In the case of a foreign organization that is described in section 501(c... under section 512 and section 513 in computing the organization's unrelated business taxable income are... includible under section 512 and section 513 in computing the organization's unrelated business taxable...

  7. 48 CFR 1828.371 - Clauses for cross-waivers of liability for Space Shuttle services, Expendable Launch Vehicle (ELV...

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... Space Station activities and Science or Space Exploration activities unrelated to the International... Exploration activities unrelated to the International Space Station that involve a launch, NASA shall require... or Space Exploration Activities unrelated to the International Space Station, in solicitations and...

  8. Qualitative "trial-sibling" studies and "unrelated" qualitative studies contributed to complex intervention reviews.

    PubMed

    Noyes, Jane; Hendry, Margaret; Lewin, Simon; Glenton, Claire; Chandler, Jackie; Rashidian, Arash

    2016-06-01

    To compare the contribution of "trial-sibling" and "unrelated" qualitative studies in complex intervention reviews. Researchers are using qualitative "trial-sibling" studies undertaken alongside trials to provide explanations to understand complex interventions. In the absence of qualitative "trial-sibling" studies, it is not known if qualitative studies "unrelated" to trials are helpful. Trials, "trial-sibling," and "unrelated" qualitative studies looking at three health system interventions were identified. We looked for similarities and differences between the two types of qualitative studies, such as participants, intervention delivery, context, study quality and reporting, and contribution to understanding trial results. Reporting was generally poor in both qualitative study types. We detected no substantial differences in participant characteristics. Interventions in qualitative "trial-sibling" studies were delivered using standardized protocols, whereas interventions in "unrelated" qualitative studies were delivered in routine care. Qualitative "trial-sibling" studies alone provided insufficient data to develop meaningful transferrable explanations beyond the trial context, and their limited focus on immediate implementation did not address all phenomena of interest. Together, "trial-sibling" and "unrelated" qualitative studies provided larger, richer data sets across contexts to better understand the phenomena of interest. Findings support inclusion of "trial-sibling" and "unrelated" qualitative studies to explore complexity in complex intervention reviews. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Subjective Age and Changes in Memory in Older Adults.

    PubMed

    Stephan, Yannick; Sutin, Angelina R; Caudroit, Johan; Terracciano, Antonio

    2016-07-01

    The subjective experience of aging, indexed by how old or young an individual feels, has been related to well-being and health-related outcomes among older adults. The present study examined whether subjective age is associated with memory level and changes, as indexed by measures of immediate and delayed recall. A complementary purpose was to test the mediating role of depressive symptoms and physical activity in the relation between subjective age and memory changes. Participants were drawn from three waves of the Health and Retirement Study. Subjective age, baseline memory measures, and covariates were assessed during the 2008 wave (N = 5809), depressive symptoms and physical activity were assessed again in the 2010 wave, and the follow-up memory measures were assessed in the 2012 wave. Regression analyses that included demographic, metabolic, and vascular covariates revealed that a younger subjective age at baseline was associated with better concurrent performance and with slower decline in immediate and delayed recall. Bootstrap procedures indicated that fewer depressive symptoms mediated these associations. Additional analyses revealed that memory level and change were unrelated to changes in subjective age. Beyond chronological age, the subjective experience of age is associated with cognitive aging. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-.

    PubMed

    Jalloh, Amadu; Jalloh, Muctarr; Gamanga, Idrissa; Baion, David; Sahr, Foday; Gbakima, Aiah; Willoughby, Victor R; Matsuoka, Hiroyuki

    2008-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Africa is of high prevalence, although precise data are lacking in many individual nations. We investigated 129 unrelated subjects (71 male subjects, 58 female subjects) visiting a teaching hospital in Freetown, Sierra Leone, to collect baseline data on the distribution of G6PD deficiency among respective ethnic groups in the country. We confirmed eight G6PD-deficient male subjects by two formazan-based blood tests (11.3% of the male subjects examined), and also detected the common 376A > G mutation in 11 male subjects and eight female subjects by sequencing exons 3-5 of the G6PD gene. Selected samples were further sequenced for exons 2-13 and introns 5, 7, 8, and 11. Among the deficient male subjects, six were G6PD A- carrying the double mutations (202G > A and 376A > G), all of whom were in the Temne and Mende ethnic groups. Others included A- Betica, and a novel variant having double mutations in exon 5 (311G > A and 376A > G forming 104 Arg > His and 126 Asn > Asp, respectively), which we designate as G6PD Sierra Leone. Subsequent haplotype analysis linked this novel variant to the G6PD A- "family".

  11. Exploring conflict- and target-related movement of visual attention.

    PubMed

    Wendt, Mike; Garling, Marco; Luna-Rodriguez, Aquiles; Jacobsen, Thomas

    2014-01-01

    Intermixing trials of a visual search task with trials of a modified flanker task, the authors investigated whether the presentation of conflicting distractors at only one side (left or right) of a target stimulus triggers shifts of visual attention towards the contralateral side. Search time patterns provided evidence for lateral attention shifts only when participants performed the flanker task under an instruction assumed to widen the focus of attention, demonstrating that instruction-based control settings of an otherwise identical task can impact performance in an unrelated task. Contrasting conditions with response-related and response-unrelated distractors showed that shifting attention does not depend on response conflict and may be explained as stimulus-conflict-related withdrawal or target-related deployment of attention.

  12. Allelic barley MLA immune receptors recognize sequence-unrelated avirulence effectors of the powdery mildew pathogen

    PubMed Central

    Lu, Xunli; Kracher, Barbara; Saur, Isabel M. L.; Bauer, Saskia; Ellwood, Simon R.; Wise, Roger; Yaeno, Takashi; Maekawa, Takaki; Schulze-Lefert, Paul

    2016-01-01

    Disease-resistance genes encoding intracellular nucleotide-binding domain and leucine-rich repeat proteins (NLRs) are key components of the plant innate immune system and typically detect the presence of isolate-specific avirulence (AVR) effectors from pathogens. NLR genes define the fastest-evolving gene family of flowering plants and are often arranged in gene clusters containing multiple paralogs, contributing to copy number and allele-specific NLR variation within a host species. Barley mildew resistance locus a (Mla) has been subject to extensive functional diversification, resulting in allelic resistance specificities each recognizing a cognate, but largely unidentified, AVRa gene of the powdery mildew fungus, Blumeria graminis f. sp. hordei (Bgh). We applied a transcriptome-wide association study among 17 Bgh isolates containing different AVRa genes and identified AVRa1 and AVRa13, encoding candidate-secreted effectors recognized by Mla1 and Mla13 alleles, respectively. Transient expression of the effector genes in barley leaves or protoplasts was sufficient to trigger Mla1 or Mla13 allele-specific cell death, a hallmark of NLR receptor-mediated immunity. AVRa1 and AVRa13 are phylogenetically unrelated, demonstrating that certain allelic MLA receptors evolved to recognize sequence-unrelated effectors. They are ancient effectors because corresponding loci are present in wheat powdery mildew. AVRA1 recognition by barley MLA1 is retained in transgenic Arabidopsis, indicating that AVRA1 directly binds MLA1 or that its recognition involves an evolutionarily conserved host target of AVRA1. Furthermore, analysis of transcriptome-wide sequence variation among the Bgh isolates provides evidence for Bgh population structure that is partially linked to geographic isolation. PMID:27702901

  13. Esthetic evaluation of the facial profile in rehabilitated adults with complete bilateral cleft lip and palate.

    PubMed

    Ferrari Júnior, Flávio Mauro; Ayub, Priscila Vaz; Capelozza Filho, Leopoldino; Pereira Lauris, José Roberto; Garib, Daniela Gamba

    2015-01-01

    To assess the facial esthetics of patients with complete bilateral cleft lip and palate, and to compare the judgment of raters related and unrelated to cleft care. The sample comprised 23 adult patients (7 women and 16 men) with a mean age of 26.1 years, rehabilitated at a single center. Standardized photographs of the right and left facial profile were taken of each patient and subjectively evaluated by 25 examiners: 5 orthodontists and 5 plastic surgeons with expertise in oral cleft rehabilitation, 5 orthodontists and 5 plastic surgeons without expertise in oral cleft rehabilitation, and 5 laypersons. The facial profiles were classified into 3 categories: esthetically unpleasant, esthetically acceptable, and esthetically pleasant. Intraexaminer and interexaminer agreements were evaluated with the Spearman correlation coefficient and Kendall coefficient of concordance. The differences between rater categories were analyzed using the Student-Newman-Keuls test (with P < .05 indicating a statistically significant difference). Most of the sample was classified as esthetically acceptable. Orthodontists and plastic surgeons related to oral cleft rehabilitation gave the best scores to the facial profiles, followed by layperson examiners and by orthodontists and plastic surgeons unrelated to oral cleft rehabilitation. The middle third of the face, the nose, and the upper lip were frequently pointed out as contributors to the esthetic impairment. The facial profile of rehabilitated adult patients with complete bilateral cleft lip and palate was considered esthetically acceptable because of morphologic limitations in the structures affected by the cleft. Laypersons and professionals unrelated to oral cleft rehabilitation seem to be more critical regarding facial esthetics than professionals involved with cleft rehabilitation. Copyright © 2015. Published by Elsevier Inc.

  14. Allelic barley MLA immune receptors recognize sequence-unrelated avirulence effectors of the powdery mildew pathogen.

    PubMed

    Lu, Xunli; Kracher, Barbara; Saur, Isabel M L; Bauer, Saskia; Ellwood, Simon R; Wise, Roger; Yaeno, Takashi; Maekawa, Takaki; Schulze-Lefert, Paul

    2016-10-18

    Disease-resistance genes encoding intracellular nucleotide-binding domain and leucine-rich repeat proteins (NLRs) are key components of the plant innate immune system and typically detect the presence of isolate-specific avirulence (AVR) effectors from pathogens. NLR genes define the fastest-evolving gene family of flowering plants and are often arranged in gene clusters containing multiple paralogs, contributing to copy number and allele-specific NLR variation within a host species. Barley mildew resistance locus a (Mla) has been subject to extensive functional diversification, resulting in allelic resistance specificities each recognizing a cognate, but largely unidentified, AVR a gene of the powdery mildew fungus, Blumeria graminis f. sp. hordei (Bgh). We applied a transcriptome-wide association study among 17 Bgh isolates containing different AVR a genes and identified AVR a1 and AVR a13 , encoding candidate-secreted effectors recognized by Mla1 and Mla13 alleles, respectively. Transient expression of the effector genes in barley leaves or protoplasts was sufficient to trigger Mla1 or Mla13 allele-specific cell death, a hallmark of NLR receptor-mediated immunity. AVR a1 and AVR a13 are phylogenetically unrelated, demonstrating that certain allelic MLA receptors evolved to recognize sequence-unrelated effectors. They are ancient effectors because corresponding loci are present in wheat powdery mildew. AVR A1 recognition by barley MLA1 is retained in transgenic Arabidopsis, indicating that AVR A1 directly binds MLA1 or that its recognition involves an evolutionarily conserved host target of AVR A1 Furthermore, analysis of transcriptome-wide sequence variation among the Bgh isolates provides evidence for Bgh population structure that is partially linked to geographic isolation.

  15. Employment Standards for Australian Urban Firefighters: Part 4: Physical Aptitude Tests and Standards.

    PubMed

    Fullagar, Hugh H K; Sampson, John A; Mott, Brendan J; Burdon, Catriona A; Taylor, Nigel A S; Groeller, Herbert

    2015-10-01

    Firefighter physical aptitude tests were administered to unskilled subjects and operational firefighters to evaluate the impact that testing bias associated with gender, age, activity-specific skills, or task familiarity may have upon establishing performance thresholds. These tests were administered in sequence, simulating hazmat incidents, ventilation fan carriage (stairs), motor-vehicle rescues, bushfire incidents, fire attacks, and a firefighter rescue. Participants included two unskilled samples (N = 14 and 22) and 143 firefighters. Firefighter performance was not significantly different from the unskilled subjects. Participants from both genders passed the test, with scores unrelated to performance skill or age; however, familiarization significantly improved performance when the test was repeated. These outcomes confirmed this test to be gender-, age-, and skill-neutral. Familiarization effects could be removed through performing a single, pre-selection trial of the test battery.

  16. Shape of Caudate Nucleus and Its Cognitive Correlates in Neuroleptic-Naive Schizotypal Personality Disorder

    PubMed Central

    Levitt, James J.; Westin, Carl-Fredrik; Nestor, Paul G.; Estepar, Raul S.J.; Dickey, Chandlee C.; Voglmaier, Martina M.; Seidman, Larry J.; Kikinis, Ron; Jolesz, Ferenc A.; McCarley, Robert W.; Shenton, Martha E.

    2009-01-01

    Background We measured the shape of the head of the caudate nucleus with a new approach based on magnetic resonance imaging (MRI) in schizotypal personality disorder (SPD) subjects in whom we previously reported decreased caudate nucleus volume. We believe MRI shape analysis complements traditional MRI volume measurements. Methods Magnetic resonance imaging scans were used to measure the shape of the caudate nucleus in 15 right-handed male subjects with SPD, who had no prior neuroleptic exposure, and in 14 matched normal comparison subjects. With MRI processing tools, we measured the head of the caudate nucleus using a shape index, which measured how much a given shape deviates from a sphere. Results In relation to comparison subjects, neuroleptic never-medicated SPD subjects had significantly higher (more “edgy”) head of the caudate shape index scores, lateralized to the right side. Additionally, for SPD subjects, higher right and left head of the caudate SI scores correlated significantly with poorer neuropsychological performance on tasks of visuospatial memory and auditory/verbal working memory, respectively. Conclusions These data confirm the value of measuring shape, as well as volume, of brain regions of interest and support the association of intrinsic pathology in the caudate nucleus, unrelated to neuroleptic medication, with cognitive abnormalities in the schizophrenia spectrum. PMID:14732598

  17. Frequencies of CYP2D6 mutant alleles in a normal Japanese population and metabolic activity of dextromethorphan O-demethylation in different CYP2D6 genotypes

    PubMed Central

    Kubota, T; Yamaura, Y; Ohkawa, N; Hara, H; Chiba, K

    2000-01-01

    Aims To determine the frequencies of 11 CYP2D6 mutant alleles (CYP2D6*2,*3,*4,*5,*8,*10,*11,*12,*14,*17 and *18), and their relation to the metabolic capacity of CYP2D6 in Japanese subjects. Methods One hundred and sixty-two unrelated healthy Japanese subjects were genotyped with the polymerase chain reaction amplification method and 35 subjects were phenotyped with dextromethorphan. Results The frequencies of CYP2D6*2,*5, *10 and *14 were 12.9, 6.2, 38.6 and 2.2% in our Japanese subjects, respectively. CYP2D6*3, *4, *8, *11, *12, *17 and *18 were not detected. The mean log metabolic ratio of dextromethorphan in subjects with genotypes predicting intermediate metabolizers was significantly greater than that of heterozygotes for functional and defective alleles. Conclusions CYP2D6*5 and CYP2D6*14 are the major defective alleles found in Japanese subjects. In addition, CYP2D6*10 may play a more important role than previously thought for the treatment of Japanese patients with drugs metabolized by CYP2D6. PMID:10886115

  18. Social Isolation, Depression, and Psychological Distress Among Older Adults.

    PubMed

    Taylor, Harry Owen; Taylor, Robert Joseph; Nguyen, Ann W; Chatters, Linda

    2018-02-01

    To investigate the impact of objective and subjective social isolation from extended family members and friends on depressive symptoms and psychological distress among a national sample of older adults. Data for older adults (55 years and above) from the National Survey of American Life ( N = 1,439) were used to assess level of objective social isolation and subjective social isolation and to test regression models examining their impact on depressive symptoms (Center for Epidemiologic Studies Depression [CES-D] Scale) and psychological distress (Kessler 6 [K6] Scale). The majority of respondents were not socially isolated from family or friends; 5% were objectively isolated from family and friends, and less than 1% were subjectively isolated from family and friends. Regression analyses using both social isolation measures indicated that objective social isolation was unrelated to depressive symptoms and psychological distress. However, subjective social isolation from both family and friends and from friends only was associated with more depressive symptoms, and subjective social isolation from friends only was associated with higher levels of psychological distress. Assessments of social isolation among older populations should account for both subjective and objective dimensions, as well as both family and friend social networks. Social isolation from friends is an important, but understudied, issue that has significant consequences for older adult mental health.

  19. [Polymorphisms of killer cell immunoglobulin-like receptor and its ligand HLA-I gene among northern Chinese Han population].

    PubMed

    Wu, Lingyan; Xie, Zhengde; Liu, Yali; Ai, Junhong; Liu, Chunyan; Shen, Kunling

    2015-10-01

    OBJECTIVE To investigate the distribution of killer cell immunoglobulin-like receptors (KIR) and their specific ligands human leukocyte antigen-I (HLA-I) gene in northern China. METHODS One hundred and eighty-four unrelated northern Chinese Han individuals were recruited. Genotypes of the KIR and HLA-ABC genes were studied by sequence-specific primer polymerase chain reaction (SSP-PCR). RESULTS Sixteen KIR genes were detected among the 184 unrelated individuals. In all individuals, the four framework genes were present. The frequencies for those carrying the remaining 12 KIR genes have ranged from 16.3% to 99.5%. Twenty-four KIR genotypes were identified, for which half were detected in a single individual. A new genotype comprised of KIR2DL3, 3DL1, 2DP1 and the framework genes was detected in one subject. Respectively, 12, 27 and 11 specificities of HLA alleles were identified on the HLA-A, B, C loci. CONCLUSION The distribution of polymorphisms of KIR and its ligand HLA-ABC genes among northern Chinese Han population have been ascertained. The frequencies of 9 KIR/HLA combinations in the above population have been determined for the first time.

  20. [Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

    PubMed

    Jiang, Haiou; Ge, Chuanqin; Wang, Yiwang; Tang, Genyun; Quan, Qingli

    2015-06-01

    To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls. The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database. The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

  1. Unusual Methylobacterium fujisawaense Infection in a Patient with Acute Leukaemia Undergoing Hematopoietic Stem Cell Transplantation: First Case Report

    PubMed Central

    Fanci, Rosa; Corti, Giampaolo; Bartoloni, Alessandro; Tortoli, Enrico; Mariottini, Alessandro; Pecile, Patrizia

    2010-01-01

    Microorganisms of the genus Methylobacterium are facultative methylotrophic, gram-negative rods that are ubiquitous in nature and rarely cause human disease, mostly in subjects with preexisting causes of immune depression. Methylobacterium fujisawaense, first proposed as a new species in 1988, has never been reported as a bacterial agent of human infections so far. Here we describe a case of M. fujisawaense infection in a relapsed acute leukaemia undergoing unrelated allogeneic hematopoietic stem cell transplantation. Molecular identification of an M. fujisawaense strain was obtained from multiple mycobacterial blood cultures. PMID:20396386

  2. Psychiatric epidemiologic study of occupational lead exposure

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Parkinson, D.K.; Ryan, C.; Bromet, E.J.

    1986-02-01

    The association of occupational lead exposure with neuropsychiatric functioning was evaluated using data collected in 1982 in eastern Pennsylvania from 288 lead-exposed workers and 181 nonexposed subjects. Both current and cumulative exposure indices were used. After controlling for age, education, and income, few meaningful differences between exposed and control workers were found on either neuropsychologic or psychosocial variables. Dose-response analyses indicated that among lead-exposed workers, cumulative and current exposure were unrelated to neuropsychologic performance. The only meaningful associations occurred between exposure and level of conflict in interpersonal relationships. The results thus give evidence against hypotheses suggesting adverse neuropsychologic effects.

  3. Age-Related Deficits in Auditory Confrontation Naming

    PubMed Central

    Hanna-Pladdy, Brenda; Choi, Hyun

    2015-01-01

    The naming of manipulable objects in older and younger adults was evaluated across auditory, visual, and multisensory conditions. Older adults were less accurate and slower in naming across conditions, and all subjects were more impaired and slower to name action sounds than pictures or audiovisual combinations. Moreover, there was a sensory by age group interaction, revealing lower accuracy and increased latencies in auditory naming for older adults unrelated to hearing insensitivity but modest improvement to multisensory cues. These findings support age-related deficits in object action naming and suggest that auditory confrontation naming may be more sensitive than visual naming. PMID:20677880

  4. Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

    PubMed

    Hoggart, Clive J; Venturini, Giulia; Mangino, Massimo; Gomez, Felicia; Ascari, Giulia; Zhao, Jing Hua; Teumer, Alexander; Winkler, Thomas W; Tšernikova, Natalia; Luan, Jian'an; Mihailov, Evelin; Ehret, Georg B; Zhang, Weihua; Lamparter, David; Esko, Tõnu; Macé, Aurelien; Rüeger, Sina; Bochud, Pierre-Yves; Barcella, Matteo; Dauvilliers, Yves; Benyamin, Beben; Evans, David M; Hayward, Caroline; Lopez, Mary F; Franke, Lude; Russo, Alessia; Heid, Iris M; Salvi, Erika; Vendantam, Sailaja; Arking, Dan E; Boerwinkle, Eric; Chambers, John C; Fiorito, Giovanni; Grallert, Harald; Guarrera, Simonetta; Homuth, Georg; Huffman, Jennifer E; Porteous, David; Moradpour, Darius; Iranzo, Alex; Hebebrand, Johannes; Kemp, John P; Lammers, Gert J; Aubert, Vincent; Heim, Markus H; Martin, Nicholas G; Montgomery, Grant W; Peraita-Adrados, Rosa; Santamaria, Joan; Negro, Francesco; Schmidt, Carsten O; Scott, Robert A; Spector, Tim D; Strauch, Konstantin; Völzke, Henry; Wareham, Nicholas J; Yuan, Wei; Bell, Jordana T; Chakravarti, Aravinda; Kooner, Jaspal S; Peters, Annette; Matullo, Giuseppe; Wallaschofski, Henri; Whitfield, John B; Paccaud, Fred; Vollenweider, Peter; Bergmann, Sven; Beckmann, Jacques S; Tafti, Mehdi; Hastie, Nicholas D; Cusi, Daniele; Bochud, Murielle; Frayling, Timothy M; Metspalu, Andres; Jarvelin, Marjo-Riitta; Scherag, André; Smith, George Davey; Borecki, Ingrid B; Rousson, Valentin; Hirschhorn, Joel N; Rivolta, Carlo; Loos, Ruth J F; Kutalik, Zoltán

    2014-07-01

    The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.

  5. Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

    PubMed Central

    Hoggart, Clive J.; Venturini, Giulia; Mangino, Massimo; Gomez, Felicia; Ascari, Giulia; Zhao, Jing Hua; Teumer, Alexander; Winkler, Thomas W.; Tšernikova, Natalia; Luan, Jian'an; Mihailov, Evelin; Ehret, Georg B.; Zhang, Weihua; Lamparter, David; Esko, Tõnu; Macé, Aurelien; Rüeger, Sina; Bochud, Pierre-Yves; Barcella, Matteo; Dauvilliers, Yves; Benyamin, Beben; Evans, David M.; Hayward, Caroline; Lopez, Mary F.; Franke, Lude; Russo, Alessia; Heid, Iris M.; Salvi, Erika; Vendantam, Sailaja; Arking, Dan E.; Boerwinkle, Eric; Chambers, John C.; Fiorito, Giovanni; Grallert, Harald; Guarrera, Simonetta; Homuth, Georg; Huffman, Jennifer E.; Porteous, David; Moradpour, Darius; Iranzo, Alex; Hebebrand, Johannes; Kemp, John P.; Lammers, Gert J.; Aubert, Vincent; Heim, Markus H.; Martin, Nicholas G.; Montgomery, Grant W.; Peraita-Adrados, Rosa; Santamaria, Joan; Negro, Francesco; Schmidt, Carsten O.; Scott, Robert A.; Spector, Tim D.; Strauch, Konstantin; Völzke, Henry; Wareham, Nicholas J.; Yuan, Wei; Bell, Jordana T.; Chakravarti, Aravinda; Kooner, Jaspal S.; Peters, Annette; Matullo, Giuseppe; Wallaschofski, Henri; Whitfield, John B.; Paccaud, Fred; Vollenweider, Peter; Bergmann, Sven; Beckmann, Jacques S.; Tafti, Mehdi; Hastie, Nicholas D.; Cusi, Daniele; Bochud, Murielle; Frayling, Timothy M.; Metspalu, Andres; Jarvelin, Marjo-Riitta; Scherag, André; Smith, George Davey; Borecki, Ingrid B.; Rousson, Valentin; Hirschhorn, Joel N.; Rivolta, Carlo; Loos, Ruth J. F.; Kutalik, Zoltán

    2014-01-01

    The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity. PMID:25078964

  6. When will bigger be (recalled) better? The influence of category size on JOLs depends on test format.

    PubMed

    Hourihan, Kathleen L; Tullis, Jonathan G

    2015-08-01

    Although it is well known that organized lists of words (e.g., categories) are recalled better than unrelated lists, little research has examined whether participants can predict how categorical relatedness influences recall. In two experiments, participants studied lists of words that included items from big categories (12 items), small categories (4 items), and unrelated items, and provided immediate JOLs. In Experiment 1, free recall was highest for items from large categories and lowest for unrelated items. Importantly, participants were sensitive to the effects of category size on recall, with JOLs to items from big categories actually increasing over the study list. In Experiment 2, one group of participants was cued to recall all exemplars from the categories in a blocked manner, whereas the other group was cued in a random order. As expected, the random group did not show the recall benefit for big categories over small categories observed in free recall, while the blocked group did. Critically, the pattern of metacognitive judgments closely matched actual cued recall performance. Participants' JOLs were sensitive to the interaction between category size and output order, demonstrating a relatively sophisticated strategy that incorporates the interaction of multiple extrinsic cues in predicting recall.

  7. Evolution of human cytomegalovirus-seronegative donor/-seropositive recipient high-risk combination frequency in allogeneic hematopoietic stem cell transplantations at Institute of Hematology and Blood Transfusion during 1995-2014.

    PubMed

    Nemeckova, S; Sroller, V; Stastna-Markova, M

    2016-04-01

    Human cytomegalovirus (HCMV) establishes lifelong latent infection that can result in severe life-threatening disease in immunosuppressed patients after hematopoietic stem cell transplantation (HSCT). An HCMV-seropositive transplant recipient who receives a graft from a seronegative donor (R+/D-) is at high risk of recurrent HCMV reactivation. To assess the incidence of R+/D- combination, we retrospectively evaluated HCMV-seronegative donors for 746 allogeneic HSCT treatments carried out at our center during 1995-2014. In our cohort, 20% HCMV-seronegative HSCT recipients, 21% HCMV-seronegative related graft donors, and 52% HCMV-seronegative unrelated graft donors were included. Analyses of the HCMV serostatus of hematopoietic stem cell donors during 2 consecutive calendar periods (1995-2005 and 2006-2014) showed a significant increase in the proportion of seronegative donors (odds ratio [OR] = 1.947). In addition, the number of HSCT treatments using an unrelated donor increased (OR = 2.376). Finally, the use of grafts from countries with a very low HCMV prevalence increased. This increase in HCMV seronegativity in unrelated donors and the increased proportion of unrelated donors were responsible for the increased occurrence of the high-risk combination R+/D- (OR = 1.680). If the reduction in the rate of HCMV-seropositive graft donors continues, an increased frequency of HCMV reactivation events in our transplant recipients can be expected, because of the increasing occurrence of the high-risk R+/D- combination. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Gigantism in sibling unrelated to multiple endocrine neoplasia: case report.

    PubMed

    Matsuno, A; Teramoto, A; Yamada, S; Kitanaka, S; Tanaka, T; Sanno, N; Osamura, R Y; Kirino, T

    1994-11-01

    The cases of gigantism sisters with somatotroph adenomas unrelated to multiple endocrine neoplasia (MEN) Type 1 are reported. The sisters grew rapidly since they were 5 or 6 years old and were diagnosed to have gigantism with pituitary adenoma by computed tomographic scan and magnetic resonance imaging. A serum endocrinological examination showed the elevated growth hormone values. After thyroxine-releasing hormone stimulation, growth hormone values exhibited a paradoxical rise. They were supposed to be unrelated to MEN Type 1, because analysis of the 11th chromosomes and the other endocrine functions were normal. They were operated on by the transphenoidal method. Immunohistochemical staining of both tumor specimens confirmed somatotroph adenomas. Pituitary adenoma associated with MEN Type 1 is a well-recognized entity. However, the sporadic occurrence of pituitary adenoma unrelated to MEN Type 1, especially in siblings, is extremely rare. Fifteen cases of pituitary adenomas in siblings were described in the literature. As for gigantism, only two brothers were reported. Our case of gigantism sisters is the second sporadic case. In our review of the isolated cases of pituitary adenoma in siblings described in the literature, 12 (70%) of 17 cases including ours are acromegaly or gigantism. This incidence is much higher than that of MEN Type 1 patients with pituitary adenomas. The cause of the familial occurrence of pituitary adenomas is still unclear, although autosomal recessive inheritance has been suggested. It has been stated that point mutations in codon 201 or 227 of the Gs alpha gene located in chromosome 20 were found in about 35 to 40% of somatotroph adenomas.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. Active commuting reduces the risk of wrist fractures in middle-aged women-the UFO study.

    PubMed

    Englund, U; Nordström, P; Nilsson, J; Hallmans, G; Svensson, O; Bergström, U; Pettersson-Kymmer, U

    2013-02-01

    Middle-aged women with active commuting had significantly lower risk for wrist fracture than women commuting by car/bus. Our purpose was to investigate whether a physically active lifestyle in middle-aged women was associated with a reduced risk of later sustaining a low-trauma wrist fracture. The Umeå Fracture and Osteoporosis (UFO) study is a population-based nested case-control study investigating associations between lifestyle and fragility fractures. From a cohort of ~35,000 subjects, we identified 376 female wrist fracture cases who had reported data regarding their commuting habits, occupational, and leisure physical activity, before they sustained their fracture. Each fracture case was compared with at least one control drawn from the same cohort and matched for age and week of reporting data, yielding a total of 778 subjects. Mean age at baseline was 54.3 ± 5.8 years, and mean age at fracture was 60.3 ± 5.8 years. Conditional logistic regression analysis with adjustments for height, body mass index, smoking, and menopausal status showed that subjects with active commuting (especially walking) were at significantly lower risk of sustaining a wrist fracture (OR 0.48; 95 % CI 0.27-0.88) compared with those who commuted by car or bus. Leisure time activities such as dancing and snow shoveling were also associated with a lower fracture risk, whereas occupational activity, training, and leisure walking or cycling were unrelated to fracture risk. This study suggests that active commuting is associated with a lower wrist fracture risk, in middle-aged women.

  10. Dissociable roles of default-mode regions during episodic encoding.

    PubMed

    Maillet, David; Rajah, M Natasha

    2014-04-01

    We investigated the role of distinct regions of the default-mode network (DMN) during memory encoding with fMRI. Subjects encoded words using either a strategy that emphasized self-referential (pleasantness) processing, or one that emphasized semantic (man-made/natural) processing. During encoding subjects were intermittently presented with thought probes to evaluate if they were concentrated and on-task or exhibiting task-unrelated thoughts (TUT). After the scanning session subjects performed a source retrieval task to determine which of two judgments they performed for each word at encoding. Source retrieval accuracy was higher for words encoded with the pleasantness vs. the man-made/natural task and there was a trend for higher performance for words preceding on-task vs. TUT reports. fMRI results show that left anterior medial PFC and left angular gyrus activity was greater during successful vs. unsuccessful encoding during both encoding tasks. Greater activity in left anterior cingulate and bilateral lateral temporal cortex was related successful vs. unsuccessful encoding only in the pleasantness task. In contrast, posterior cingulate, right anterior cingulate and right temporoparietal junction were activated to a greater extent in unsuccessful vs. successful encoding across tasks. Finally, activation in posterior cingulate and bilateral dorsolateral prefrontal cortex was related to TUT across tasks; moreover, we observed a conjunction in posterior cingulate between encoding failure and TUT. We conclude that DMN regions play dissociable roles during memory formation, and that their association with subsequent memory may depend on the manner in which information is encoded and retrieved. Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.

  11. Governmentality--Neoliberalism--Education: The Risk Perspective

    ERIC Educational Resources Information Center

    Kašcák, Ondrej; Pupala, Branislav

    2011-01-01

    This paper understands the basic elements of neoliberalism in education and governmentality to be the technologies for the neoliberal government of education. It outlines Foucault's methodology for analysing governmentality and shows how neoliberalism is a discursive formation which homogenises apparently unrelated language games and…

  12. Character order processing in Chinese reading.

    PubMed

    Gu, Junjuan; Li, Xingshan; Liversedge, Simon P

    2015-02-01

    We explored how character order information is encoded in isolated word processing or Chinese sentence reading in 2 experiments using a masked priming paradigm and a gaze-contingent display-change paradigm. The results showed that response latencies in the lexical decision task and reading times on the target word region were longer in the unrelated condition (the prime or the preview was unrelated with the target word) than the transposed-character condition (the prime or the preview was a transposition of the 2 characters of the target word), which were respectively longer than in the identity condition (the prime or preview was identical to the target word). These results show that character order is encoded at an early stage of processing in Chinese reading, but character position encoding was not strict. We also found that character order encoding was similar for single-morpheme and multiple-morpheme words, suggesting that morphemic status does not affect character order encoding. The current results represent an early contribution to our understanding of character order encoding during Chinese reading.

  13. [AML(M7) associated with t(16;21)(p11;q22) showing relapse after unrelated bone marrow transplantation and disappearance of TLS/FUS-ERG mRNA].

    PubMed

    Fukushima, Y; Fujii, N; Tabata, Y; Nishimura, Y; Fusaoka, T; Yoshihara, T; Tsunamoto, K; Kasubuchi, Y; Morimoto, A; Hibi, S; Taketani, K; Hayashi, Y; Imashuku, S

    2001-06-01

    A 3-year-old boy with poorly prognostic acute megakaryoblastic leukemia (AML M7) showing t(16;21)(p11;q22) karyotype underwent unrelated bone marrow transplantation (U-BMT) during his first hematological remission. The conditioning regimen consisted of BU, VP-16 and L-PAM. Engraftment was smooth, but the patient developed grade I acute GVHD. During hematological remission before U-BMT, the TLS/FUS-ERG chimeric transcript of t(16;21)(p11;q22) was consistently detectable as minimal residual disease (MRD) by RT-PCR. However, after U-BMT it soon became undetectable. There was no detectable MRD until 7 months after U-BMT, but bone marrow relapse occurred 10 months after U-BMT. We consider that U-BMT is a promising treatment for t(16;21)(p11;q22) AML. However, an intensified conditioning regimen or modification of GVHD prophylaxis is needed.

  14. Can a near win kindle motivation? The impact of nearly winning on motivation for unrelated rewards.

    PubMed

    Wadhwa, Monica; Kim, JeeHye Christine

    2015-06-01

    Common intuition and research suggest that winning is more motivating than losing. However, we propose that just failing to obtain a reward (i.e., nearly winning it) in one task leads to broader, positive motivational effects on subsequent unrelated tasks relative to clearly losing or actually obtaining the reward. We manipulated a near-win experience using a game app in Experiments 1 through 3 and a lottery in Experiment 4. Our findings showed that nearly winning in one task subsequently led participants to walk faster to get to a chocolate bar (Experiment 1), salivate more for money (Experiment 2), and increase their effort to earn money in a card-sorting task (Experiment 3). A field study (Experiment 4) demonstrated that nearly winning led people to subsequently spend more money on desirable consumer products. Finally, our findings showed that when the activated motivational state was dampened in an intervening task, the nearly-winning effect was attenuated. © The Author(s) 2015.

  15. Forensic genetic study of 29 Y-STRs in Korean population.

    PubMed

    Jung, Ju Yeon; Park, Ji-Hye; Oh, Yu-Li; Kwon, Han-Sol; Park, Hyun-Chul; Park, Kyung-Hwa; Kim, Eun Hye; Lee, Dong-Sub; Lim, Si-Keun

    2016-11-01

    In this study, we compared two recently released commercial Y-chromosomal short tandem repeat (Y-STR) kits: the PowerPlex Y23 System (PPY23) and Yfiler® Plus PCR amplification kit (YPlus). We performed validation studies, including sensitivity, tolerance to PCR inhibitors, and mixture analysis, and a population genetics study using 306 unrelated South Korean males. PPY23 and YPlus showed similar sensitivity, but PPY23 showed higher tolerance to humic acid than YPlus. Furthermore, the detection rate of unique minor alleles called from male/male mixtures was higher for PPY23 than for YPlus. Comparing the newly added loci, the mean values of gene diversity for PPY23 and YPlus were 0.6715 and 0.8158, respectively. The discrimination capacity in the 306 unrelated South Korean males for PPY23 was 0.9837, and that for YPlus was 0.9935. These results will inform the selection of suitable Y-STR kits based on the purpose of forensic DNA analysis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  16. Discourse comprehension in L2: Making sense of what is not explicitly said.

    PubMed

    Foucart, Alice; Romero-Rivas, Carlos; Gort, Bernharda Lottie; Costa, Albert

    2016-12-01

    Using ERPs, we tested whether L2 speakers can integrate multiple sources of information (e.g., semantic, pragmatic information) during discourse comprehension. We presented native speakers and L2 speakers with three-sentence scenarios in which the final sentence was highly causally related, intermediately related, or causally unrelated to its context; its interpretation therefore required simple or complex inferences. Native speakers revealed a gradual N400-like effect, larger in the causally unrelated condition than in the highly related condition, and falling in-between in the intermediately related condition, replicating previous results. In the crucial intermediately related condition, L2 speakers behaved like native speakers, however, showing extra processing in a later time-window. Overall, the results show that, when reading, L2 speakers are able to process information from the local context and prior information (e.g., world knowledge) to build global coherence, suggesting that they process different sources of information to make inferences online during discourse comprehension, like native speakers. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. 26 CFR 1.105-3 - Payments unrelated to absence from work.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Payments unrelated to absence from work. 1.105-3... Payments unrelated to absence from work. Section 105(c) provides an exclusion from gross income with... absent from work. Loss of use or disfigurement shall be considered permanent when it may reasonably be...

  18. Neural correlates of anticipation and processing of performance feedback in social anxiety.

    PubMed

    Heitmann, Carina Y; Peterburs, Jutta; Mothes-Lasch, Martin; Hallfarth, Marlit C; Böhme, Stephanie; Miltner, Wolfgang H R; Straube, Thomas

    2014-12-01

    Fear of negative evaluation, such as negative social performance feedback, is the core symptom of social anxiety. The present study investigated the neural correlates of anticipation and perception of social performance feedback in social anxiety. High (HSA) and low (LSA) socially anxious individuals were asked to give a speech on a personally relevant topic and received standardized but appropriate expert performance feedback in a succeeding experimental session in which neural activity was measured during anticipation and presentation of negative and positive performance feedback concerning the speech performance, or a neutral feedback-unrelated control condition. HSA compared to LSA subjects reported greater anxiety during anticipation of negative feedback. Functional magnetic resonance imaging results showed deactivation of medial prefrontal brain areas during anticipation of negative feedback relative to the control and the positive condition, and medial prefrontal and insular hyperactivation during presentation of negative as well as positive feedback in HSA compared to LSA subjects. The results indicate distinct processes underlying feedback processing during anticipation and presentation of feedback in HSA as compared to LSA individuals. In line with the role of the medial prefrontal cortex in self-referential information processing and the insula in interoception, social anxiety seems to be associated with lower self-monitoring during feedback anticipation, and an increased self-focus and interoception during feedback presentation, regardless of feedback valence. © 2014 Wiley Periodicals, Inc.

  19. Matter of will: The association between posttraumatic stress symptoms and the will-to-live.

    PubMed

    Palgi, Yuval

    2017-03-01

    The present study examined how posttraumatic-stress-symptoms presented after prolonged traumatic exposure to rocket attacks are related to the perception of the worthiness of life among individuals in the second half of their lives. Additionally, it was questioned whether the subjective evaluation of the time one has left to live affects this relationship. Using an in-region random digit dialing methodology, phone calls made to residents in the south of Israel, we sampled 339 community-dwelling older adults (age range 50-90; M=65.44, SD=9.77) in Wave 1, 170 of whom were interviewed again in Wave 2 about a year later. Participants completed a phone-questionnaire on posttraumatic-stress-symptoms, subjective nearness-to-death, and will-to-live. The cross-sectional and longitudinal analyses results showed that higher levels of posttraumatic-stress-symptoms were positively related to higher will-to-live in both waves, among individuals who felt further away from death, while higher levels of posttraumatic-stress-symptoms were negatively related or unrelated to lower will-to-live among those who felt close to death in Waves 1and 2, respectively. The findings emphasize that perceptions regarding one's future perspective may affect the quality of the relationship between posttraumatic-stress-symptoms and will-to-live. Theoretical and practical implications are discussed. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  20. Characterization of G6PD Genotypes and Phenotypes on the Northwestern Thailand-Myanmar Border

    PubMed Central

    Somsakchaicharoen, Raweewan; Chowwiwat, Nongnud; Parker, Daniel M.; Charunwatthana, Prakaykaew; White, Nicholas J.; Nosten, François H.

    2014-01-01

    Mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene result in red blood cells with increased susceptibility to oxidative damage. Significant haemolysis can be caused by primaquine and other 8-aminoquinoline antimalarials used for the radical treatment of Plasmodium vivax malaria. The distribution and phenotypes of mutations causing G6PD deficiency in the male population of migrants and refugees in a malaria endemic region on the Thailand-Myanmar border were characterized. Blood samples for G6PD fluorescent spot test (FST), G6PD genotyping, and malaria testing were taken from 504 unrelated males of Karen and Burman ethnicities presenting to the outpatient clinics. The overall frequency of G6PD deficiency by the FST was 13.7%. Among the deficient subjects, almost 90% had the Mahidol variant (487G>A) genotype. The remaining subjects had Chinese-4 (392G>T), Viangchan (871G>A), Açores (595A>G), Seattle (844G>C) and Mediterranean (563C>T) variants. Quantification of G6PD activity was performed using a modification of the standard spectrophotometric assay on a subset of 24 samples with Mahidol, Viangchan, Seattle and Chinese-4 mutations; all samples showed a residual enzymatic activity below 10% of normal and were diagnosed correctly by the FST. Further studies are needed to characterise the haemolytic risk of using 8-aminoquinolines in patients with these genotypes. PMID:25536053

  1. Subjective and quantitative scintigraphic assessment of the equine foot and its relationship with foot pain.

    PubMed

    Dyson, S J

    2002-03-01

    It was hypothesised that in solar bone images of the front feet of clinically normal horses, or horses with lameness unrelated to the front feet, there would be less than a 10% difference in the ratio of uptake of radiopharmaceutical in either the region of the navicular bone, or the region of insertion of the deep digital flexor tendon (DDFT), compared to the peripheral regions of the distal phalanx. Nuclear scintigraphic examination of the front feet of 15 Grand Prix show jumping horses, all of which were free from detectable lameness, was performed using dorsal, lateral and solar images. The results were compared with the examinations of 53 horses with primary foot pain, 21 with foot pain accompanying another more severe cause of lameness and 49 with lameness or poor performance unrelated to foot pain. None of the horses with foot pain had radiological changes compatible with navicular disease. All the images were evaluated subjectively. The solar views were assessed quantitatively using regions of interest around the navicular bone, the region of insertion of the deep digital flexor tendon and the toe, medial and lateral aspects of the distal phalanx. In 97% of the feet of normal showjumpers, there was <10% variance of uptake of the radiopharmaceutical in the navicular bone, the region of insertion of the DDFT and the peripheral regions of the distal phalanx. There was a significant difference in uptake of radiopharmaceutical in the region of the navicular bone in horses with foot pain compared to normal horses. There was a large incidence of false positive results related to the region of insertion of the DDFT. Lateral pool phase images appeared more sensitive in identifying potentially important DDFT lesions. There was a good correlation between a positive response to intra-articular analgesia of the distal interphalangeal joint and intrathecal analgesia of the navicular bursa and increased uptake of radiopharmaceutical in the region of the navicular bone in the horses with primary foot pain. It is concluded that quantitative scintigraphic assessment of bone phase images of the foot, in combination with local analgesic techniques, can be helpful in the identification of the potential source of pain causing lameness related to the foot, but false positive results can occur, especially in horses with low heel conformation.

  2. Personality Plasticity After Age 30

    PubMed Central

    Terracciano, Antonio; Costa, Paul T.; McCrae, Robert R.

    2009-01-01

    Rank-order consistency of personality traits increases from childhood to age 30. After that, different summaries of the literature predict a plateau at age 30, or at age 50, or a curvilinear peak in consistency at age 50. These predictions were evaluated at group and individual levels using longitudinal data from the Guilford-Zimmerman Temperament Survey and the Revised NEO Personality Inventory over periods of up to 42 years. Consistency declined toward a non-zero asymptote with increasing time-interval. Although some scales showed increasing stability after age 30, the rank-order consistencies of the major dimensions and most facets of the Five-Factor Model were unrelated to age. Ipsative stability, assessed with the California Adult Q-Set, was also unrelated to age. These data strengthen claims of predominant personality stability after age 30. PMID:16861305

  3. 26 CFR 1.513-2 - Definition of unrelated trade or business applicable to taxable years beginning before December...

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Definition of unrelated trade or business... (CONTINUED) Taxation of Business Income of Certain Exempt Organizations § 1.513-2 Definition of unrelated trade or business applicable to taxable years beginning before December 13, 1967. (a) In general. (1) As...

  4. 26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 26 Internal Revenue 7 2013-04-01 2013-04-01 false Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

  5. 26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 26 Internal Revenue 7 2012-04-01 2012-04-01 false Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

  6. 26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 26 Internal Revenue 7 2014-04-01 2013-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

  7. 26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 26 Internal Revenue 7 2011-04-01 2009-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

  8. 26 CFR 1.513-5 - Certain bingo games not unrelated trade or business.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Certain bingo games not unrelated trade or... Organizations § 1.513-5 Certain bingo games not unrelated trade or business. (a) In general. Under section 513(f... or business that consists of conducting bingo games (as defined in paragraph (d) of this section). (b...

  9. 26 CFR 1.512(a)-5T - Questions and answers relating to the unrelated business taxable income of organizations...

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 7 2010-04-01 2010-04-01 true Questions and answers relating to the unrelated... TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES (CONTINUED) Taxation of Business Income of Certain Exempt Organizations § 1.512(a)-5T Questions and answers relating to the unrelated business taxable...

  10. Changing the Sexual Aggression-Supportive Attitudes of Men: A Psychoeducational Intervention.

    ERIC Educational Resources Information Center

    Gilbert, Barbara J.; And Others

    1991-01-01

    Assessed psychoeducational intervention designed to change attitudes of men found to be associated with sexual aggression toward women. College men receiving elaboration likelihood model-based intervention showed significantly more attitude change than did control group. One month later, in unrelated naturalistic context, intervention subjects…

  11. Fifth Dimension Parallel Thinking and Velocity Squared

    DTIC Science & Technology

    2006-12-20

    whether people can make rapid decisions. Regarding time, C.R. Gallistel and Rochel Gelman show that even pigeons can make decisions that require time...Facility may lead to uncharacteristic or illegal behavioral choices, even if these emotions are caused by unrelated incidents. 35 R.J. Gallistel and

  12. Proteomic identification of plant proteins probed by mammalian nitric oxide synthase antibodies.

    PubMed

    Butt, Yoki Kwok-Chu; Lum, John Hon-Kei; Lo, Samuel Chun-Lap

    2003-03-01

    Several studies suggest that a mammalian-like nitric oxide synthase (NOS) exists in plants. Researchers have attempted to verify its presence using two approaches: (i) determination of NOS functional activity and (ii) probing with mammalian NOS antibodies. However, up to now, neither a NOS-like gene nor a protein has been found in plants. While there is still some controversy over whether the NOS functional activity seen is due to nitrate reductase, using the mammalian NOS antibodies in western blot analysis, several groups have reported the presence of immunoreactive protein bands in plant homogenates. Based on these results, immunohistochemical studies using these antibodies have also been used to localize NOS in plant tissues. However, plant NOS has never been positively identified or characterized. Thus, we used a proteomic approach to verify the identities of plant proteins that cross-reacted with the mammalian NOS antibodies. Proteins extracted from maize (Zea mays L.) embryonic axes were separated by two-dimensional gel electrophoresis and subjected to western blot analysis with the mammalian neuronal NOS and inducible NOS antibodies. Twenty immunoreactive protein spots recognized on a corresponding Coomassie blue-stained two-dimensional gel were subjected to tryptic digestion, followed by identification using matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Fifteen proteins were successfully identified and they have described functions that are unrelated to NO metabolism. The remaining five proteins could not be identified. The amino acid sequences of these identified proteins and those used to raise the antibodies were aligned. However, no homologous region could be found. Our results demonstrate that the mammalian NOS antibodies recognize many NOS-unrelated plant proteins. Therefore, it is inappropriate to infer the presence of plant NOS using this immunological technique.

  13. Posttraumatic Stress in Survivors 1 Month to 19 Years after an Airliner Emergency Landing

    PubMed Central

    Arnberg, Filip K.; Michel, Per-Olof; Lundin, Tom

    2015-01-01

    Posttraumatic stress (PTS) is common in survivors from life-threatening events. Little is known, however, about the course of PTS after life threat in the absence of collateral stressors (e.g., bereavement, social stigma, property loss) and there is a scarcity of studies about PTS in the long term. This study assessed the short- and long-term course of PTS, and the influence of gender, education and age on the level and course of PTS, in survivors from a non-fatal airliner emergency landing caused by engine failure at an altitude of 1 km. There were 129 persons on board. A survey including the Impact of Event Scale was distributed to 106 subjects after 1 month, 4 months, 14 months, and 25 months, and to 95 subjects after 19 years (response rates 64–83%). There were initially high levels of PTS. The majority of changes in PTS occurred from 1 to 4 months after the event. There were small changes from 4 to 25 months but further decrease in PTS thereafter. Female gender was associated with higher levels of PTS whereas gender was unrelated to the slope of the short- and long-term trajectories. Higher education was related to a quicker recovery although not to initial or long-term PTS. Age was not associated with PTS. The present findings suggest that a life-threatening experience without collateral stressors may produce high levels of acute posttraumatic stress, yet with a benign prognosis. The findings further implicate that gender is unrelated to trajectories of recovery in the context of highly similar exposure and few collateral stressors. PMID:25734536

  14. Effects of parallel planning on agreement production.

    PubMed

    Veenstra, Alma; Meyer, Antje S; Acheson, Daniel J

    2015-11-01

    An important issue in current psycholinguistics is how the time course of utterance planning affects the generation of grammatical structures. The current study investigated the influence of parallel activation of the components of complex noun phrases on the generation of subject-verb agreement. Specifically, the lexical interference account (Gillespie & Pearlmutter, 2011b; Solomon & Pearlmutter, 2004) predicts more agreement errors (i.e., attraction) for subject phrases in which the head and local noun mismatch in number (e.g., the apple next to the pears) when nouns are planned in parallel than when they are planned in sequence. We used a speeded picture description task that yielded sentences such as the apple next to the pears is red. The objects mentioned in the noun phrase were either semantically related or unrelated. To induce agreement errors, pictures sometimes mismatched in number. In order to manipulate the likelihood of parallel processing of the objects and to test the hypothesized relationship between parallel processing and the rate of agreement errors, the pictures were either placed close together or far apart. Analyses of the participants' eye movements and speech onset latencies indicated slower processing of the first object and stronger interference from the related (compared to the unrelated) second object in the close than in the far condition. Analyses of the agreement errors yielded an attraction effect, with more errors in mismatching than in matching conditions. However, the magnitude of the attraction effect did not differ across the close and far conditions. Thus, spatial proximity encouraged parallel processing of the pictures, which led to interference of the associated conceptual and/or lexical representation, but, contrary to the prediction, it did not lead to more attraction errors. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

    PubMed

    Cheng, Fu Bo; Ozelius, Laurie J; Wan, Xin Hua; Feng, Jia Chun; Ma, Ling Yan; Yang, Ying Mai; Wang, Lin

    2012-02-01

    Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset <26 years), family members of participants with mutations, and 200 neurologically normal controls were screened for THAP1 gene mutations. The effects of the identified mutations on RNA expression were analyzed using semi-quantitative real-time PCR. Seven sequence variants (c.63_66del TTTC, c.161G>T, c.224A>T, c.267G>A, c.339T>C, c.449A>C, and c.539T>C) were identified in this group of patients (6.9%). In this cohort, 15 subjects (seven unrelated patients and eight family members) were detected to have THAP1 sequence variants. Among these 15 subjects, 11 were manifested (penetrance of DYT6 was 73.3%) and seven presented with craniocervical involvement (63.6%). However, one patient manifested paroxysmal headshake, and one presented with essential hand tremor. Semi-quantitative real-time PCR indicated that a novel silent mutation (c.267G>A) decreased the expression of THAP1 in human lymphocytes. Our findings indicated that THAP1 sequence variants are not common in non-DYT1 early-onset primary dystonia in China and that the clinical manifestation may vary. One silent mutation (c.267G>A) was shown to affect THAP1 expression.

  16. A Mutation in TTF1/NKX2.1 Is Associated With Familial Neuroendocrine Cell Hyperplasia of Infancy

    PubMed Central

    Young, Lisa R.; Deutsch, Gail H.; Bokulic, Ronald E.; Brody, Alan S.

    2013-01-01

    Background: Neuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung disease of unknown etiology. We investigated the mechanism for lung disease in a subject whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the subject’s extended family and eight other unrelated patients with NEHI were also investigated. Methods: The proband’s lung biopsy specimen (at age 7 months) and serial CT scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had failure to thrive in infancy and chronic respiratory symptoms that improved with age. Genes associated with autosomal-dominant forms of childhood interstitial lung disease were sequenced. Results: A heterozygous NKX2.1 mutation was identified in the proband and the four other adult family members with histories of childhood lung disease. The mutation results in a nonconservative amino acid substitution in the homeodomain in a codon extensively conserved through evolution. None of these individuals have thyroid disease or movement disorders. NKX2.1 mutations were not identified by sequence analysis in eight other unrelated subjects with NEHI. Conclusions: The nature of the mutation and its segregation with disease support that it is disease-causing. Previously reported NKX2.1 mutations have been associated with “brain-thyroid-lung” syndrome and a spectrum of more severe pulmonary phenotypes. We conclude that genetic mechanisms may cause NEHI and that NKX2.1 mutations may result in, but are not the predominant cause of, this phenotype. We speculate that altered expression of NKX2.1 target genes other than those in the surfactant system may be responsible for the pulmonary pathophysiology of NEHI. PMID:23787483

  17. Prevalence of Extracranial Venous Narrowing on Magnetic Resonance Venography Is Similar in People With Multiple Sclerosis, Their Siblings, and Unrelated Healthy Controls: A Blinded, Case-Control Study.

    PubMed

    Martin, Nancy; Traboulsee, Anthony L; Machan, Lindsay; Klass, Darren; Ellchuk, Tasha; Zhao, Yinshan; Knox, Katherine B; Kopriva, David; Lala, Shantilal; Nickel, Darren; Otani, Robert; Perera, Warren R; Rauscher, Alexander; Sadovnick, A Dessa; Szkup, Peter; Li, David K

    2017-05-01

    The study sought to assess and compare the prevalence of narrowing of the major extracranial veins in subjects with multiple sclerosis and controls, and to assess the sensitivity and specificity of magnetic resonance venography (MRV) for describing extracranial venous narrowing as it applies to the chronic cerebrospinal venous insufficiency theory, using catheter venography (CV) as the gold standard. The jugular and azygos veins were assessed with time-of-flight MRV in this assessor-blinded, case-control study of subjects with multiple sclerosis, their unaffected siblings, and unrelated controls. The veins were evaluated by diameter and area, and compared with CV. Collateral vessels were also analyzed for maximal diameter, as a potential indicator of compensatory flow. A high prevalence of extracranial venous narrowing was demonstrated in all study groups, collectively up to 84% by diameter criteria and 90% by area, with no significant difference between the groups when assessed independently (P = .34 and .63, respectively). There was high interobserver variability in the reporting of vessel narrowing (kappa = 0.32), and poor vessel per vessel correlation between narrowing on MRV and CV (kappa = 0.064). Collateral neck veins demonstrated no convincing difference in maximum size or correlation with jugular narrowing. There is a high prevalence of narrowing of the major extracranial veins on MRV in all 3 study groups, with no significant difference between them. These findings do not support the chronic cerebrospinal venous insufficiency theory. Although MRV has shown a high sensitivity for identifying venous narrowing, time-of-flight imaging demonstrates poor interobserver agreement and poor specificity when compared with the gold standard CV. Copyright © 2016 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.

  18. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

    PubMed

    De Tomasi, Lara; David, Pierre; Humbert, Camille; Silbermann, Flora; Arrondel, Christelle; Tores, Frédéric; Fouquet, Stéphane; Desgrange, Audrey; Niel, Olivier; Bole-Feysot, Christine; Nitschké, Patrick; Roume, Joëlle; Cordier, Marie-Pierre; Pietrement, Christine; Isidor, Bertrand; Khau Van Kien, Philippe; Gonzales, Marie; Saint-Frison, Marie-Hélène; Martinovic, Jelena; Novo, Robert; Piard, Juliette; Cabrol, Christelle; Verma, Ishwar C; Puri, Ratna; Journel, Hubert; Aziza, Jacqueline; Gavard, Laurent; Said-Menthon, Marie-Hélène; Heidet, Laurence; Saunier, Sophie; Jeanpierre, Cécile

    2017-11-02

    Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling. Four loss-of-function and 12 damaging missense variants, 14 being absent from GnomAD, were identified. Twelve of them were present in familial or simplex BKA-affected case subjects. Female BKA-affected fetuses also displayed uterus agenesis. We demonstrated a significant association between GREB1L variants and BKA. By in situ hybridization, we showed expression of Greb1l in the nephrogenic zone in developing mouse kidney. We generated a Greb1l knock-out mouse model by CRISPR-Cas9. Analysis at E13.5 revealed lack of kidneys and genital tract anomalies in male and female Greb1l -/- embryos and a slight decrease in ureteric bud branching in Greb1l +/- embryos. We showed that Greb1l invalidation in mIMCD3 cells affected tubulomorphogenesis in 3D-collagen culture, a phenotype rescued by expression of the wild-type human protein. This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Haploidentical transplant with posttransplant cyclophosphamide vs matched unrelated donor transplant for acute myeloid leukemia

    PubMed Central

    Zhang, Mei-Jie; Bacigalupo, Andrea A.; Bashey, Asad; Appelbaum, Frederick R.; Aljitawi, Omar S.; Armand, Philippe; Antin, Joseph H.; Chen, Junfang; Devine, Steven M.; Fowler, Daniel H.; Luznik, Leo; Nakamura, Ryotaro; O’Donnell, Paul V.; Perales, Miguel-Angel; Pingali, Sai Ravi; Porter, David L.; Riches, Marcie R.; Ringdén, Olle T. H.; Rocha, Vanderson; Vij, Ravi; Weisdorf, Daniel J.; Champlin, Richard E.; Horowitz, Mary M.; Fuchs, Ephraim J.; Eapen, Mary

    2015-01-01

    We studied adults with acute myeloid leukemia (AML) after haploidentical (n = 192) and 8/8 HLA-matched unrelated donor (n = 1982) transplantation. Haploidentical recipients received calcineurin inhibitor (CNI), mycophenolate, and posttransplant cyclophosphamide for graft-versus-host disease (GVHD) prophylaxis; 104 patients received myeloablative and 88 received reduced intensity conditioning regimens. Matched unrelated donor transplant recipients received CNI with mycophenolate or methotrexate for GVHD prophylaxis; 1245 patients received myeloablative and 737 received reduced intensity conditioning regimens. In the myeloablative setting, day 30 neutrophil recovery was lower after haploidentical compared with matched unrelated donor transplants (90% vs 97%, P = .02). Corresponding rates after reduced intensity conditioning transplants were 93% and 96% (P = .25). In the myeloablative setting, 3-month acute grade 2-4 (16% vs 33%, P < .0001) and 3-year chronic GVHD (30% vs 53%, P < .0001) were lower after haploidentical compared with matched unrelated donor transplants. Similar differences were observed after reduced intensity conditioning transplants, 19% vs 28% (P = .05) and 34% vs 52% (P = .002). Among patients receiving myeloablative regimens, 3-year probabilities of overall survival were 45% (95% CI, 36-54) and 50% (95% CI, 47-53) after haploidentical and matched unrelated donor transplants (P = .38). Corresponding rates after reduced intensity conditioning transplants were 46% (95% CI, 35-56) and 44% (95% CI, 0.40-47) (P = .71). Although statistical power is limited, these data suggests that survival for patients with AML after haploidentical transplantation with posttransplant cyclophosphamide is comparable with matched unrelated donor transplantation. PMID:26130705

  20. Use of categorical and individuating information in making inferences about personality.

    PubMed

    Krueger, J; Rothbart, M

    1988-08-01

    In three experiments, we explored the effects of categorical information (stereotypes) and case information (traits or behaviors) on judgments about an individual's characteristics. Subjects judged a target person's aggressiveness on the basis of a description containing both a broad social category and specific case information. In Experiment 1, the description included (a) a category that was either weakly or strongly related to aggressiveness and (b) a behavior that was unrelated, moderately diagnostic, or highly diagnostic of aggressiveness. Trait inferences were a function of both the stereotypic and the behavioral information. A single behavior was not sufficient to override the category effect. In Experiment 2, temporally consistent behaviors were presented as case information; under these conditions, category information had no effect on trait judgements. This finding was extended in Experiment 3 in which subjects predicted behaviors on the basis of the target person's sex and a moderately diagnostic trait.

  1. Associative false consumer memory: effects of need for cognition and encoding task.

    PubMed

    Parker, Andrew; Dagnall, Neil

    2018-04-01

    Two experiments investigated the effects of product-attribute associations on false consumer memory. In both experiments, subjects were presented with sets of related product attributes under incidental encoding conditions. Later, recognition memory was tested with studied attributes, non-studied but associated attributes (critical lures) and non-studied unrelated attributes. In Experiment 1, the effect of Need for Cognition (NFC) was assessed. It was found that individuals high in NFC recognised more presented attributes and falsely recognised more associative critical lures. The increase in both true and associative false memory was accompanied by a greater number of responses that index the retrieval of detailed episodic-like information. Experiment 2, replicated the main findings through an experimental manipulation of the encoding task that required subjects to consider purchase likelihood. Explanations for these findings are considered from the perspective of activation processes and knowledge structures in the form of gist-based representations.

  2. Self-report measures among transplant candidates: the impact of evaluative situations.

    PubMed

    Putzke, J D; Boll, T J; Williams, M A; Benza, R C; Kirklin, J K; McGiffin, D C

    2001-03-01

    Experiment 1 was a between-subjects design comparing transplant candidates completing self-report measures under an evaluative versus an anonymous research condition. A cardiac disease group and a healthy community group served as controls. Transplant candidates in the anonymous research condition reported significantly more depression, anxiety, and negative affectivity as compared with transplant candidates in the evaluative condition and community controls. In contrast, the evaluative transplant group (a) did not differ from the community controls on any of the self-report measures, and (b) reported significantly less depression than cardiac disease controls. Experiment 2 was a within-subjects design with transplant candidates completing self-report measures under both an evaluative and an anonymous research condition. Significantly greater anxiety was reported under the anonymous research condition. Social desirability was significantly related to change in self-reported anxiety and depression across conditions, but was unrelated to change in endorsement of personality characteristics.

  3. Intuitive reasoning about abstract and familiar physics problems

    NASA Technical Reports Server (NTRS)

    Kaiser, Mary Kister; Jonides, John; Alexander, Joanne

    1986-01-01

    Previous research has demonstrated that many people have misconceptions about basic properties of motion. Two experiments examined whether people are more likely to produce dynamically correct predictions about basic motion problems involving situations with which they are familiar, and whether solving such problems enhances performance on a subsequent abstract problem. In experiment 1, college students were asked to predict the trajectories of objects exiting a curved tube. Subjects were more accurate on the familiar version of the problem, and there was no evidence of transfer to the abstract problem. In experiment 2, two familiar problems were provided in an attempt to enhance subjects' tendency to extract the general structure of the problems. Once again, they gave more correct responses to the familiar problems but failed to generalize to the abstract problem. Formal physics training was associated with correct predictions for the abstract problem but was unrelated to performance on the familiar problems.

  4. Stress at work: Differential experiences of high versus low SES workers.

    PubMed

    Damaske, Sarah; Zawadzki, Matthew J; Smyth, Joshua M

    2016-05-01

    This paper asks whether workers with higher socioeconomic status (SES) experience different levels of stress at work than workers with lower SES and, if so, what might explain these differences. We collected innovative assessments of immediate objective and subjective measures of stress at multiple time points across consecutive days from 122 employed men and women. We find that in comparison to higher SES individuals, those with lower SES reported greater happiness at work, less self-reported stress, and less perceived stress; cortisol, a biological marker of stress, was unrelated to SES. Worker's momentary perceptions of the workplace were predicted by SES, with higher SES individuals more commonly reporting feeling unable to meet work demands, fewer work resources, and less positive work appraisals. In turn, perceptions of the workplace had a generally consistent and robust effect on positive mood, subjective stress, and cortisol. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Stress at Work: Differential Experiences of High versus Low SES Workers

    PubMed Central

    Damaske, Sarah; Zawadzki, Matthew J.; Smyth, Joshua M.

    2016-01-01

    This paper asks whether workers with greater socioeconomic status (SES) experience different levels of stress at work than workers with lower SES and, if so, what might explain these differences. We collected innovative assessments of immediate objective and subjective measures of stress at multiple time points across consecutive days from 122 employed men and women. We find that in comparison to higher SES individuals, those with lower SES reported greater happiness at work, less self-reported stress, and less perceived stress; cortisol, a biological marker of stress, was unrelated to SES. Worker's momentary perceptions of the workplace were predicted by SES, with higher SES individuals more commonly reporting feeling unable to meet work demands, fewer work resources, and less positive work appraisals. In turn, perceptions of the workplace had a generally consistent and robust effect on positive mood, subjective stress, and cortisol. PMID:27038320

  6. H1-MAPT and the Risk for Familial Essential Tremor

    PubMed Central

    García-Martín, Elena; Martínez, Carmen; Alonso-Navarro, Hortensia; Benito-León, Julián; Lorenzo-Betancor, Oswaldo; Pastor, Pau; López-Alburquerque, Tomás; Samaranch, Lluis; Lorenzo, Elena; Agúndez, José A. G.; Jiménez-Jiménez, Félix Javier

    2012-01-01

    The most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson’s disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population. PMID:22911817

  7. Flow, affect and visual creativity.

    PubMed

    Cseh, Genevieve M; Phillips, Louise H; Pearson, David G

    2015-01-01

    Flow (being in the zone) is purported to have positive consequences in terms of affect and performance; however, there is no empirical evidence about these links in visual creativity. Positive affect often--but inconsistently--facilitates creativity, and both may be linked to experiencing flow. This study aimed to determine relationships between these variables within visual creativity. Participants performed the creative mental synthesis task to simulate the creative process. Affect change (pre- vs. post-task) and flow were measured via questionnaires. The creativity of synthesis drawings was rated objectively and subjectively by judges. Findings empirically demonstrate that flow is related to affect improvement during visual creativity. Affect change was linked to productivity and self-rated creativity, but no other objective or subjective performance measures. Flow was unrelated to all external performance measures but was highly correlated with self-rated creativity; flow may therefore motivate perseverance towards eventual excellence rather than provide direct cognitive enhancement.

  8. Role of white matter lesions, cerebral atrophy, and APOE on cognition in older persons with and without dementia: the Cache County, Utah, study of memory and aging.

    PubMed

    Bigler, Erin D; Lowry, Christopher M; Kerr, Burton; Tate, David F; Hessel, Cory D; Earl, Heath D; Miller, Michael J; Rice, Sara A; Smith, Kay H; Tschanz, JoAnn T; Welsh-Bohmer, Kathleen; Plassman, Brenda; Victoroff, Jeff

    2003-07-01

    Neuropsychological, qualitative, and quantitative magnetic resonance imaging findings were examined in subjects with Alzheimer's disease (AD), non-AD dementia or mixed neuropsychiatric disorder, subjects characterized as mild/ambiguous, and controls, all with known apolipoprotein E (APOE) genotype. Neuropsychological tasks included an expanded Consortium to Establish a Registery for Alzheimer's Disease (J. T. Tschanz et al., 2000; K. A. Welsh, J. M. Hoffman, N. L. Earl, & M. W. Hanson 1994) battery and the Mini-Mental Status Examination (M. F. Folstein, S. E. Folstein, & P. R. McHugh, 1975). Periventricular white matter lesions were the most clinically salient, and generalized measures of cerebral atrophy were the most significant quantitative indicators. APOE genotype was unrelated to imaging or neuropsychological performance. Neuropsychological relationships with neuroimaging findings depend on the qualitative or quantitative method used.

  9. For Whom the Mind Wanders, and When, Varies Across Laboratory and Daily-Life Settings.

    PubMed

    Kane, Michael J; Gross, Georgina M; Chun, Charlotte A; Smeekens, Bridget A; Meier, Matt E; Silvia, Paul J; Kwapil, Thomas R

    2017-09-01

    Undergraduates ( N = 274) participated in a weeklong daily-life experience-sampling study of mind wandering after being assessed in the lab for executive-control abilities (working memory capacity; attention-restraint ability; attention-constraint ability; and propensity for task-unrelated thoughts, or TUTs) and personality traits. Eight times a day, electronic devices prompted subjects to report on their current thoughts and context. Working memory capacity and attention abilities predicted subjects' TUT rates in the lab, but predicted the frequency of daily-life mind wandering only as a function of subjects' momentary attempts to concentrate. This pattern replicates prior daily-life findings but conflicts with laboratory findings. Results for personality factors also revealed different associations in the lab and daily life: Only neuroticism predicted TUT rate in the lab, but only openness predicted mind-wandering rate in daily life (both predicted the content of daily-life mind wandering). Cognitive and personality factors also predicted dimensions of everyday thought other than mind wandering, such as subjective judgments of controllability of thought. Mind wandering in people's daily environments and TUTs during controlled and artificial laboratory tasks have different correlates (and perhaps causes). Thus, mind-wandering theories based solely on lab phenomena may be incomplete.

  10. Is constipation associated with decreased physical activity in normally active subjects?

    PubMed

    Tuteja, Ashok K; Talley, Nicholas J; Joos, Sandra K; Woehl, James V; Hickam, David H

    2005-01-01

    The effectiveness of physical activity in the management of constipation remains controversial. We examined the associations among physical activity, constipation, and quality of life (QoL) in a population of employed adults to determine whether the risk of constipation is related to physical activity. A total of 1,069 employees (age range 24-77) of the Veterans Affairs (VA) Black Hills Health Care System were mailed validated questionnaires (response rate 72%), inquiring about bowel habits, QoL (SF 36), and physical activity (modified Baecke questionnaire). Constipation was defined using the Rome I criteria. One hundred and forty (19.4%, 95% CI 16.2-22.4) employees reported constipation. The average total physical activity and all subscales of physical activity were not significantly different in subjects with and without constipation (all p > or = 0.2). Subjects with constipation had lower QoL scores than subjects without constipation, and physical activity was positively correlated with physical functioning and health perception. Physical activity appears to be unrelated to the risk of constipation in employed adults, but higher physical activity was associated with improved QoL. Recommendations to increase physical activity may not alter symptoms of constipation but may improve overall well-being.

  11. Alternative Reinforcer Response Cost Impacts Cocaine Choice in Humans

    PubMed Central

    Stoops, William W.; Lile, Joshua A.; Glaser, Paul E.A.; Hays, Lon R.; Rush, Craig R.

    2011-01-01

    Cocaine use disorders are an unrelenting public health concern. Behavioral treatments reduce cocaine use by providing non-drug alternative reinforcers. The purpose of this human laboratory experiment was to determine how response cost for non-drug alternative reinforcers influenced cocaine choice. Seven cocaine-using, non-treatment-seeking subjects completed a crossover, double-blind protocol in which they first sampled doses of intranasal cocaine (5, 10, 20 or 30 mg) and completed a battery of subject-rated and physiological measures. Subjects then made eight discrete choices between the sampled dose and an alternative reinforce (US$0.25). The response cost to earn a cocaine dose was always a fixed ratio (FR) of 100 responses. The response cost for the alternative reinforcer varied across sessions (FR1, FR10, FR100, FR1000). Dose-related increases were observed for cocaine choice. Subjects made fewer drug choices when the FR requirements for the alternative reinforcers were lower than that for drug relative to when the FR requirements were equal to or higher than that for drug. Intranasal cocaine also produced prototypical stimulant-like subject-rated and physiological effects (e.g., increased ratings of Like Drug; elevated blood pressure). These data demonstrate that making alternative reinforcers easier to earn reduces cocaine self-administration, which has implications for treatment efforts. PMID:22015480

  12. Effect of extrinsic incentives on use of test anxiety as an anticipatory attributional defense: playing it cool when the stakes are high.

    PubMed

    Greenberg, J; Pyszczynski, T; Paisley, C

    1984-11-01

    We conducted an experiment to assess the effect of extrinsic incentives on the use of test anxiety as a self-handicapping strategy. We hypothesized that although reports of anxiety may be greater when such symptoms can serve a defensive function, this effect occurs only when extrinsic incentives are low and not under conditions of high extrinsic incentive. Eighty-four male undergraduates anticipated taking a test of intellectual abilities and either were led to believe that test anxiety has no effect on test performance or were given no particular information about the relation between test anxiety and performance. Subjects were offered either +5 or +25 for obtaining the highest score on the test. Consistent with predictions, no-information subjects reported greater test anxiety before the test than did those who believed that test anxiety was unrelated to performance, but only when the extrinsic incentive for performance was low. However, these subjects did not report greater cognitive interference or exhibit lower test scores than did subjects in other conditions. It is tentatively suggested that the defensive strategy used by these subjects consisted of altering perceptions of anxiety, rather than anxiety itself. The implications of the absence of self-handicapping under high incentive conditions are discussed.

  13. Second allograft for hematologic relapse of acute leukemia after first allogeneic stem-cell transplantation from related and unrelated donors: the role of donor change.

    PubMed

    Christopeit, Maximilian; Kuss, Oliver; Finke, Jürgen; Bacher, Ulrike; Beelen, Dietrich Wilhelm; Bornhäuser, Martin; Schwerdtfeger, Rainer; Bethge, Wolfgang Andreas; Basara, Nadezda; Gramatzki, Martin; Tischer, Johanna; Kolb, Hans-Jochem; Uharek, Lutz; Meyer, Ralf G; Bunjes, Donald; Scheid, Christof; Martin, Hans; Niederwieser, Dietger; Kröger, Nicolaus; Bertz, Hartmut; Schrezenmeier, Hubert; Schmid, Christoph

    2013-09-10

    To evaluate the role of a second allogeneic hematopoietic stem-cell transplantation (HSCT2) given for relapsed acute leukemia (AL) after related or unrelated first hematopoietic stem-cell transplantation (HSCT1) and to analyze the role of donor change for HSCT2 in both settings. We performed a retrospective registry study on 179 HSCT2s given for relapse after HSCT1 from matched related donors (n = 75) or unrelated donors (n = 104), using identical or alternative donors for HSCT2. Separate analyses were performed according to donor at HSCT1. Independent of donor, 74% of patients achieved complete remission after HSCT2, and half of these patients experienced relapse again. Overall survival (OS) at 2 years was 25% ± 4% (39% ± 7% after related HSCT2; 19% ± 4% after unrelated HSCT2). Long-term survivors were observed even after two unrelated HSCT2s. Multivariate analysis for OS from HSCT2 confirmed established risk factors (remission duration after HSCT1: hazard ratio [HR], 2.37; 95% CI, 1.61 to 3.46; P < .001; stage at HSCT2: HR, 0.53; 95% CI, 0.34 to 0.83; P = .006). Outcome of HSCT2 was better after related HSCT1 than after unrelated HSCT1 (2-year OS: 37% ± 6% v 16% ± 4%, respectively; HR, 0.68; 95% CI, 0.47 to 0.98; P = .042, multivariate Cox regression). After both related and unrelated HSCT1, selecting a new donor for HSCT2 did not result in a relevant improvement in OS compared with HSCT2 from the original donor; however, donor change was not detrimental either. After relapse from allogeneic HSCT1, HSCT2 can induce 2-year OS in approximately 25% of patients. Unrelated HSCT2 is feasible after related and unrelated HSCT1. Donor change for HSCT2 is a valid option. However, a clear advantage in terms of OS could not be demonstrated.

  14. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Liang, Min; Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003; Guan, Minqiang

    2009-06-05

    We report here the clinical, genetic and molecular characterization of four Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T3394C (Y30H) mutation, which localized at a highly conserved tyrosine at position 30 of ND1, and distinct sets of mtDNA polymorphisms belonging to haplogroups D4b and M9a. The occurrence of T3394C mutation in these several genetically unrelated subjects affected by visual impairment strongly indicatesmore » that this mutation is involved in the pathogenesis of visual impairment. However, there was the absence of functionally significant mtDNA mutations in these four Chinese pedigrees carrying the T3394C mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated T3394C mutation.« less

  15. Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

    PubMed Central

    Bonnen, Penelope E.; Yarham, John W.; Besse, Arnaud; Wu, Ping; Faqeih, Eissa A.; Al-Asmari, Ali Mohammad; Saleh, Mohammad A.M.; Eyaid, Wafaa; Hadeel, Alrukban; He, Langping; Smith, Frances; Yau, Shu; Simcox, Eve M.; Miwa, Satomi; Donti, Taraka; Abu-Amero, Khaled K.; Wong, Lee-Jun; Craigen, William J.; Graham, Brett H.; Scott, Kenneth L.; McFarland, Robert; Taylor, Robert W.

    2013-01-01

    Nuclear genetic disorders causing mitochondrial DNA (mtDNA) depletion are clinically and genetically heterogeneous, and the molecular etiology remains undiagnosed in the majority of cases. Through whole-exome sequencing, we identified recessive nonsense and splicing mutations in FBXL4 segregating in three unrelated consanguineous kindreds in which affected children present with a fatal encephalopathy, lactic acidosis, and severe mtDNA depletion in muscle. We show that FBXL4 is an F-box protein that colocalizes with mitochondria and that loss-of-function and splice mutations in this protein result in a severe respiratory chain deficiency, loss of mitochondrial membrane potential, and a disturbance of the dynamic mitochondrial network and nucleoid distribution in fibroblasts from affected individuals. Expression of the wild-type FBXL4 transcript in cell lines from two subjects fully rescued the levels of mtDNA copy number, leading to a correction of the mitochondrial biochemical deficit. Together our data demonstrate that mutations in FBXL4 are disease causing and establish FBXL4 as a mitochondrial protein with a possible role in maintaining mtDNA integrity and stability. PMID:23993193

  16. Seroreactivity against Merkel cell polyomavirus and other polyomaviruses in chronic lymphocytic leukaemia, the MCC-Spain study.

    PubMed

    Robles, Claudia; Casabonne, Delphine; Benavente, Yolanda; Costas, Laura; Gonzalez-Barca, Eva; Aymerich, Marta; Campo, Elias; Tardon, Adonina; Jiménez-Moleón, José J; Castaño-Vinyals, Gemma; Dierssen-Sotos, Trinidad; Michel, Angelika; Kranz, Lena; Aragonés, Nuria; Pollan, Marina; Kogevinas, Manolis; Pawlita, Michael; de Sanjose, Silvia

    2015-08-01

    Merkel cell polyomavirus (MCPyV) has been suspected to cause chronic lymphocytic leukaemia (CLL) but previous data are inconsistent. We measured seroreactivities of nine polyomaviruses (MCPyV, BKPyV, JCPyV, LPyV, KIPyV, WUPyV, HPyV-6, HPyV-7 and TSPyV) in 359 CLL cases and 370 controls using bead-based multiplex serology technology. We additionally tested two herpesviruses (HSV-1 and CMV). Associations between disease and viral seroreactivities were assessed using logistic regression. All human viruses showed high seroprevalences (69-99%) against structural proteins in controls but significantly lower viral seroprevalences in cases (58-94%; OR range = 0.21-0.70, P value < 0.05), except for MCPyV (OR = 0.79, 95% CI = 0.54-1.16). Lower seroreactivity levels were observed among CLL subjects, with significant differences already observed at early stages of disease, unrelated to treatment status. Seroreactivities against polyomavirus related oncoproteins were almost null. Our data suggest no association for MCPyV polyomavirus with CLL development and an unlikely association for other polyomaviruses tested.

  17. Would you hire me? Selfie portrait images perception in a recruitment context

    NASA Astrophysics Data System (ADS)

    Mazza, F.; Da Silva, M. P.; Le Callet, P.

    2014-02-01

    Human content perception has been underlined to be important in multimedia quality evaluation. Recently aesthetic considerations have been subject of research in this field. First attempts in aesthetics took into account perceived low-level features, especially taken from photography theory. However they demonstrated to be insuf- ficient to characterize human content perception. More recently image psychology started to be considered as higher cognitive feature impacting user perception. In this paper we follow this idea introducing social cognitive elements. Our experiments focus on the influence of different versions of portrait pictures in context where they are showed aside some completely unrelated informations; this can happen for example in social networks interactions between users, where profile pictures are present aside almost every user action. In particular, we tested this impact on resumes between professional portrait and self shot pictures. Moreover, as we run tests in crowdsourcing, we will discuss the use of this methodology for these tests. Our final aim is to analyse social biases' impact on multimedia aesthetics evaluation and how this bias influences messages that go along with pictures, as in public online platforms and social networks.

  18. Functional split brain in a driving/listening paradigm.

    PubMed

    Sasai, Shuntaro; Boly, Melanie; Mensen, Armand; Tononi, Giulio

    2016-12-13

    We often engage in two concurrent but unrelated activities, such as driving on a quiet road while listening to the radio. When we do so, does our brain split into functionally distinct entities? To address this question, we imaged brain activity with fMRI in experienced drivers engaged in a driving simulator while listening either to global positioning system instructions (integrated task) or to a radio show (split task). We found that, compared with the integrated task, the split task was characterized by reduced multivariate functional connectivity between the driving and listening networks. Furthermore, the integrated information content of the two networks, predicting their joint dynamics above and beyond their independent dynamics, was high in the integrated task and zero in the split task. Finally, individual subjects' ability to switch between high and low information integration predicted their driving performance across integrated and split tasks. This study raises the possibility that under certain conditions of daily life, a single brain may support two independent functional streams, a "functional split brain" similar to what is observed in patients with an anatomical split.

  19. Resolution of temporomandibular joint dysfunction (TMJD) by correcting a lateral head translation posture following previous failed traditional chiropractic therapy: a CBP® case report

    PubMed Central

    Jaeger, Jason O.; Oakley, Paul A.; Moore, Robert R.; Ruggeroli, Edward P.; Harrison, Deed E.

    2018-01-01

    [Purpose] To present the case of the resolution of right temporomandibular joint dysfunction (TMJD) following the correction of a right lateral head translation posture. [Subject and Methods] A 24 year old female reported facial pain and jaw clicking in the right TMJ. Radiography revealed a 19 mm right head (shift) translation posture. TMJ vibration analysis showed characteristic abnormalities for the right TMJ. The patient was treated with CBP® technique mirror image® left sided exercises, and traction methods as well as spinal manipulative therapy (SMT). [Results] After 36 treatments over a 12-week time period, a complete correction of the lateral head posture was achieved corresponding with a complete resolution of jaw pain and clicking. TMJ vibration analysis demonstrated normal right side TMJ characteristics following treatment. [Conclusion] Abnormal head/neck postures, such as lateral head translation, may be an unrealized source of TMJD and may be explained through the ‘regional interdependence’ model or by how seemingly unrelated anatomy may be associated with a primary complaint. PMID:29410576

  20. Resolution of temporomandibular joint dysfunction (TMJD) by correcting a lateral head translation posture following previous failed traditional chiropractic therapy: a CBP® case report.

    PubMed

    Jaeger, Jason O; Oakley, Paul A; Moore, Robert R; Ruggeroli, Edward P; Harrison, Deed E

    2018-01-01

    [Purpose] To present the case of the resolution of right temporomandibular joint dysfunction (TMJD) following the correction of a right lateral head translation posture. [Subject and Methods] A 24 year old female reported facial pain and jaw clicking in the right TMJ. Radiography revealed a 19 mm right head (shift) translation posture. TMJ vibration analysis showed characteristic abnormalities for the right TMJ. The patient was treated with CBP ® technique mirror image ® left sided exercises, and traction methods as well as spinal manipulative therapy (SMT). [Results] After 36 treatments over a 12-week time period, a complete correction of the lateral head posture was achieved corresponding with a complete resolution of jaw pain and clicking. TMJ vibration analysis demonstrated normal right side TMJ characteristics following treatment. [Conclusion] Abnormal head/neck postures, such as lateral head translation, may be an unrealized source of TMJD and may be explained through the 'regional interdependence' model or by how seemingly unrelated anatomy may be associated with a primary complaint.

  1. Masked Inhibitory Priming in English: Evidence for Lexical Inhibition

    ERIC Educational Resources Information Center

    Davis, Colin J.; Lupker, Stephen J.

    2006-01-01

    Predictions derived from the interactive activation (IA) model were tested in 3 experiments using the masked priming technique in the lexical decision task. Experiment 1 showed a strong effect of prime lexicality: Classifications of target words were facilitated by orthographically related nonword primes (relative to unrelated nonword primes) but…

  2. Psychometric Properties of the Positive Automatic Thoughts Questionnaire.

    ERIC Educational Resources Information Center

    Ingram, Rick E.; And Others

    1995-01-01

    Original data and other studies using the Positive Automatic Thoughts Questionnaire (ATP-Q) show that the reliability and norms of the instrument appear stable and that the ATP-Q is inversely associated with negative affective states but unrelated to conditions such as medical condition not accompanied by psychological distress. (SLD)

  3. Grammaticalness, Signification, and Second Language Acquisition--The Role of Literature in Language Classrooms.

    ERIC Educational Resources Information Center

    Grundy, Peter

    2002-01-01

    Shows how the apparently unrelated structuralist and poststructuralist approaches to literature each provide a persuasive justification for the use of literature in the language classroom. Argues persuasively that the characteristic use of deviation in literary writing makes literary texts "noticeable,""comprehensible," and hence suitable as a…

  4. Learned Helplessness in High School Students Following Experience of Noncontingent Rewards.

    ERIC Educational Resources Information Center

    Buys, Nicholas J.; Winefield, Anthony H.

    1982-01-01

    Compared high-school students differing in achievement motivation in a learned helplessness experiment. A strong helplessness effect was observed in both high- and low-achievement motivation groups. Results show a strong learned helplessness effect unrelated to individual differences in achievement motivation and refute claims that helplessness…

  5. Distribution Characteristics of Air-Bone Gaps – Evidence of Bias in Manual Audiometry

    PubMed Central

    Margolis, Robert H.; Wilson, Richard H.; Popelka, Gerald R.; Eikelboom, Robert H.; Swanepoel, De Wet; Saly, George L.

    2015-01-01

    Objective Five databases were mined to examine distributions of air-bone gaps obtained by automated and manual audiometry. Differences in distribution characteristics were examined for evidence of influences unrelated to the audibility of test signals. Design The databases provided air- and bone-conduction thresholds that permitted examination of air-bone gap distributions that were free of ceiling and floor effects. Cases with conductive hearing loss were eliminated based on air-bone gaps, tympanometry, and otoscopy, when available. The analysis is based on 2,378,921 threshold determinations from 721,831 subjects from five databases. Results Automated audiometry produced air-bone gaps that were normally distributed suggesting that air- and bone-conduction thresholds are normally distributed. Manual audiometry produced air-bone gaps that were not normally distributed and show evidence of biasing effects of assumptions of expected results. In one database, the form of the distributions showed evidence of inclusion of conductive hearing losses. Conclusions Thresholds obtained by manual audiometry show tester bias effects from assumptions of the patient’s hearing loss characteristics. Tester bias artificially reduces the variance of bone-conduction thresholds and the resulting air-bone gaps. Because the automated method is free of bias from assumptions of expected results, these distributions are hypothesized to reflect the true variability of air- and bone-conduction thresholds and the resulting air-bone gaps. PMID:26627469

  6. Exposure to electromagnetic fields during pregnancy with emphasis on electrically heated beds: association with birthweight and intrauterine growth retardation.

    PubMed

    Bracken, M B; Belanger, K; Hellenbrand, K; Dlugosz, L; Holford, T R; McSharry, J E; Addesso, K; Leaderer, B

    1995-05-01

    Several animal and human studies indicate that fetal growth may be retarded following exposure to electromagnetic fields (EMF). We conducted a prospective study (N = 2,967) to evaluate the relation of birthweight and fetal growth retardation with use of electrically heated beds (electric blankets and heated water beds) during pregnancy. A "nested" study design allowed monitoring of exposure at different stages of pregnancy using both direct and indirect methods. We assessed EMF exposure using personal monitors, home measurement, video display terminal use, and wire code. Exposure to EMF during pregnancy, either at conception, at < or = 16 weeks, or in the third trimester, showed no important relation to risk of low birth-weight or fetal growth retardation. This result was the same whether we used subjective measures of exposure or direct measurement. Use of video display terminals at home or work, exposure to > or = 2.0-milligauss fields as measured by home or personal monitors, and home wire code were unrelated to the reproductive outcomes studied. A time-weighted analysis of electric bed use, which accounted for strength of EMF exposure and hours of use, also showed evidence of no meaningful increase in risk. None of the exposure measures showed a dose response relation to risk. We conclude that risk of low birth-weight and intrauterine growth retardation is not increased after electrically heated bed use during pregnancy.

  7. The Influence of Concreteness of Concepts on the Integration of Novel Words into the Semantic Network

    PubMed Central

    Ding, Jinfeng; Liu, Wenjuan; Yang, Yufang

    2017-01-01

    On the basis of previous studies revealing a processing advantage of concrete words over abstract words, the current study aimed to further explore the influence of concreteness on the integration of novel words into semantic memory with the event related potential (ERP) technique. In the experiment during the learning phase participants read two-sentence contexts and inferred the meaning of novel words. The novel words were two-character non-words in Chinese language. Their meaning was either a concrete or abstract known concept which could be inferred from the contexts. During the testing phase participants performed a lexical decision task in which the learned novel words served as primes for either their corresponding concepts, semantically related or unrelated targets. For the concrete novel words, the semantically related words belonged to the same semantic categories with their corresponding concepts. For the abstract novel words, the semantically related words were synonyms of their corresponding concepts. The unrelated targets were real words which were concrete or abstract for the concrete or abstract novel words respectively. The ERP results showed that the corresponding concepts and the semantically related words elicited smaller N400s than the unrelated words. The N400 effect was not modulated by the concreteness of the concepts. In addition, the concrete corresponding concepts elicited a smaller late positive component (LPC) than the concrete unrelated words. This LPC effect was absent for the abstract words. The results indicate that although both concrete and abstract novel words can be acquired and linked to their related words in the semantic network after a short learning phase, the concrete novel words are learned better. Our findings support the (extended) dual coding theory and broaden our understanding of adult word learning and changes in concept organization. PMID:29255440

  8. The impact of living-unrelated transplant on establishing deceased-donor liver program in Syria.

    PubMed

    Saeed, Bassam

    2014-10-01

    Liver transplant is the criterion standard for patients with end-stage liver disease. Yet there is no liver transplant in Syria. Traveling abroad for a liver transplant is a luxury few Syrians can afford. There is currently an on-going debate whether to start a liver transplant program using living or deceased donors. In 2003, a new law was enacted, authorizing the use of organs from volunteer strangers and deceased donors. Despite the positive aspects of this law (allowing unrelated donors to increase the number of transplants in the country); the negative aspects also were obvious. The poor used the law to sell their organs to the rich, and this model is in violation of the Istanbul Declaration. To better document transplant communities' perceptions on organ donation, an e-mail survey was sent to a nationally representative sample of physicians (n = 115) that showed that 58% of respondents did not support the start of liver transplant from live donors, as they fear a considerable risk for the donor and the recipient. Seventy-one percent of respondents believe that unrelated kidney donation has contributed to tarnishing the reputation of transplant, and 56% believe that a deceased-donor program can run in parallel with unrelated organ donations. The interest in deceased-donor program has been affected negatively by the systematic approach of using poor persons as the source of the organ. This lack of interest has affected starting a liver program that relies on deceased donors; especially the need for kidneys is more than livers. Health authorities in Syria were inclined to initiate a liver transplant program from live donors, despite the risks of serious morbidities and mortality. In conclusion then, paid kidney donation in actual effect is actually a hindrance to establishing a deceased-donor liver program.

  9. The Influence of Concreteness of Concepts on the Integration of Novel Words into the Semantic Network.

    PubMed

    Ding, Jinfeng; Liu, Wenjuan; Yang, Yufang

    2017-01-01

    On the basis of previous studies revealing a processing advantage of concrete words over abstract words, the current study aimed to further explore the influence of concreteness on the integration of novel words into semantic memory with the event related potential (ERP) technique. In the experiment during the learning phase participants read two-sentence contexts and inferred the meaning of novel words. The novel words were two-character non-words in Chinese language. Their meaning was either a concrete or abstract known concept which could be inferred from the contexts. During the testing phase participants performed a lexical decision task in which the learned novel words served as primes for either their corresponding concepts, semantically related or unrelated targets. For the concrete novel words, the semantically related words belonged to the same semantic categories with their corresponding concepts. For the abstract novel words, the semantically related words were synonyms of their corresponding concepts. The unrelated targets were real words which were concrete or abstract for the concrete or abstract novel words respectively. The ERP results showed that the corresponding concepts and the semantically related words elicited smaller N400s than the unrelated words. The N400 effect was not modulated by the concreteness of the concepts. In addition, the concrete corresponding concepts elicited a smaller late positive component (LPC) than the concrete unrelated words. This LPC effect was absent for the abstract words. The results indicate that although both concrete and abstract novel words can be acquired and linked to their related words in the semantic network after a short learning phase, the concrete novel words are learned better. Our findings support the (extended) dual coding theory and broaden our understanding of adult word learning and changes in concept organization.

  10. Elimination of antiviral defense by viral RNase III

    PubMed Central

    Cuellar, Wilmer J.; Kreuze, Jan F.; Rajamäki, Minna-Liisa; Cruzado, Karin R.; Untiveros, Milton; Valkonen, Jari P. T.

    2009-01-01

    Sweet potato (Ipomoea batatas) is an important subsistence and famine reserve crop grown in developing countries where Sweet potato chlorotic stunt virus (SPCSV; Closteroviridae), a single-stranded RNA (ssRNA) crinivirus, synergizes unrelated viruses in co-infected sweet potato plants. The most severe disease and yield losses are caused by co-infection with SPCSV and a potyvirus, Sweet potato feathery mottle virus (SPFMV; Potyviridae). Potyviruses synergize unrelated viruses by suppression of RNA silencing with the P1/HC-Pro polyprotein; however, the SPCSV-SPFMV synergism is unusual in that the potyvirus is the beneficiary. Our data show that transformation of an SPFMV-resistant sweet potato variety with the double-stranded RNA (dsRNA)-specific class 1 RNA endoribonuclease III (RNase3) of SPCSV broke down resistance to SPFMV, leading to high accumulation of SPFMV antigen and severe disease symptoms similar to the synergism in plants co-infected with SPCSV and SPFMV. RNase3-transgenic sweet potatoes also accumulated higher concentrations of 2 other unrelated viruses and developed more severe symptoms than non-transgenic plants. In leaves, RNase3 suppressed ssRNA-induced gene silencing (RNAi) in an endonuclease activity-dependent manner. It cleaved synthetic double-stranded small interfering RNAs (siRNAs) of 21, 22, and 24 bp in vitro to products of approximately 14 bp that are inactive in RNAi. It also affected total siRNA isolated from SPFMV-infected sweet potato plants, suggesting a viral mechanism for suppression of RNAi by cleavage of siRNA. Results implicate RNase3 in suppression of antiviral defense in sweet potato plants and reveal RNase3 as a protein that mediates viral synergism with several unrelated viruses, a function previously described only for P1/HC-Pro. PMID:19515815

  11. Inheritance of proportionate dwarfism in Angus cattle.

    PubMed

    Latter, M R; Latter, B D H; Wilkins, J F; Windsor, P A

    2006-04-01

    To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable mutant which changes at high frequency to the expressed dominant dwarfing allele during gametogenesis, or (ii) a dominant allele with penetrance determined by an unlinked modifying locus, are shown to be compatible with the experimental data. Both models indicate that penetrance of the dwarfing gene may possibly be higher in matings involving carrier daughters of the two Angus bulls.

  12. Genetic variations in key inflammatory cytokines exacerbates the risk of diabetic nephropathy by influencing the gene expression.

    PubMed

    Hameed, Iqra; Masoodi, Shariq R; Malik, Perveez A; Mir, Shahnaz A; Ghazanfar, Khalid; Ganai, Bashir A

    2018-06-30

    Diabetic nephropathy is the single strongest predictor of mortality in patients with diabetes. The development of overt nephropathy involves important inter-individual variations, even after adjusting for potential confounding influences of modifiable and non-modifiable risk factors. Genome-wide transcriptome studies have reported the activation of inflammatory signaling pathways and there is mounting indication of the role of genetic factors. We screened nine genetic variations in three cytokine genes (TNF-α, IL-6 and IL-β) in 1326 unrelated subjects comprising of healthy controls (n = 464), type 2 diabetics with nephropathy (DN, n = 448) and type 2 diabetes without nephropathy (T2D, n = 414) by sequence-specific amplification. Functional implication of SNPs was elucidated by correlation studies and relative gene expression using Realtime-Quantitative PCR (RT-qPCR). Individual SNP analysis showed highest association of IL-1β rs16944-TT genotype (OR = 3.51, 95%CI = 2.36-5.21, P = 0.001) and TNF-α rs1800629-AA genotype (OR = 2.75, 95% CI = 1.64-4.59, P = 0.001) with T2D and DN respectively. The haplotype frequency showed significant risk of seven combinations among T2D and four combinations among DN subjects. The highest risk of T2D and DN was associated with GGTGAGTTT (OR = 4.25, 95%CI = 3.3-14.20, P = 0.0016) and GACGACCTT (OR = 21.3, 95%CI = 15.1-28.33, P = 0.026) haplotypes respectively. Relative expression by RT-qPCR showed increased cytokine expression in cases as compared to controls. TNF-α expression was increased by more than four-folds (n-fold = 4.43 ± 1.11) in DN. TNF-α, IL-6 and IL-1β transcript levels were significantly modulated by promoter region SNPs. The present study implicates a strong association between cytokine TNF-α, IL-6 and IL-1β gene promoter polymorphisms and modulation of transcript levels with susceptibility to nephropathy in diabetes subjects. Copyright © 2018 Elsevier B.V. All rights reserved.

  13. Genetic Association Study of KCNQ5 Polymorphisms with High Myopia.

    PubMed

    Liao, Xuan; Yap, Maurice K H; Leung, Kim Hung; Kao, Patrick Y P; Liu, Long Qian; Yip, Shea Ping

    2017-01-01

    Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5) polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects (809 cases of high myopia and 754 emmetropic controls). Five tag single-nucleotide polymorphisms (SNPs) of KCNQ5 were genotyped, and association testing with high myopia was conducted using logistic regression analysis adjusted for sex and age to give P asym values, and multiple comparisons were corrected by permutation test to give P emp values. All five noncoding SNPs were associated with high myopia. The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63-0.90; P emp = 0.0058) for the minor allele. The top SNP rs9342979 showed an odds ratio of 0.75 (95% CI 0.64-0.89; P emp = 0.0045) for the minor allele. Both SNPs are located within enhancer histone marks and DNase-hypersensitive sites. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.

  14. Neuropsychological sequelae of work-stress-related exhaustion.

    PubMed

    Österberg, Kai; Skogsliden, Sofia; Karlson, Björn

    2014-01-01

    The aim was to assess long-term cognitive performance after substantial recovery from work-stress-related exhaustion, in relation to subjective cognitive complaints and return to active work. In total, 54 patients previously diagnosed with work-stress-related exhaustion participated in a neuropsychological examination ∼2 years after initial sick leave. Most participants were substantially recovered at follow-up, with only 13% still meeting the criteria for exhaustion disorder suggested by the Swedish National Board of Health and Welfare. When participants' scores on 14 neuropsychological tests were compared to a matched group of 50 controls, the former patient group showed lower performance mainly on attention tests of the reaction time type, but also slightly lower scores on visuo-spatial constructional ability. However, the former patient group performed better than controls on two memory tests and, in part, on a test of simultaneous capacity. Self-ratings of everyday cognitive problems remained significantly higher in the former patient group than among controls, but the extent of self-rated cognitive problems was generally unrelated to performance on the neuropsychological tests. No relationship between performance on these tests and the extent of work resumption was observed. In summary, persons with previous work-stress-related exhaustion showed persistent signs of a minor attention deficit, despite considerable general recovery and return to work.

  15. The impact of physical impairment on emotional well-being in ALS.

    PubMed

    Abdulla, Susanne; Vielhaber, Stefan; Kollewe, Katja; Machts, Judith; Heinze, Hans-Jochen; Dengler, Reinhard; Petri, Susanne

    2014-09-01

    There has been evidence that subjective quality of life in patients with amyotrophic lateral sclerosis (ALS) is comparatively good, unrelated to the state of physical functioning, so called 'disability paradox'. Other studies show weak to moderate correlations between disease severity and emotional well-being. Our aim was to analyse the impact of physical impairment on emotional well-being when assessed disease-specifically and seen through the patient's eyes with additional clinical evaluation. In 121 patients emotional functioning was evaluated by the ALS Assessment Questionnaire (ALSAQ-40). Physical status was assessed by the ALS Functional Rating Scale-Extension (ALSFRS-EX) and Borg dyspnoea scales and by clinical examination (muscle strength and pulmonary function). Multiple regression and correlation analyses were performed. Results showed that physical impairment and progression rate of physical deterioration had a significant impact and explained some variance in emotional well-being (adjusted R(2) = 0.22). Pulmonary function and the sense of dyspnoea correlated significantly on a weak to moderate level with emotional well-being. In conclusion, disease-specific patient- reported outcome measurement instruments revealed a moderate but distinct impact of physical impairment on emotional well-being. This study challenges the 'disability paradox' and has relevant findings that can support the timely delivery of care for ALS patients.

  16. Expanding the mutation and clinical spectrum of Roberts syndrome.

    PubMed

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

  17. An fMRI examination of the effects of acoustic-phonetic and lexical competition on access to the lexical-semantic network.

    PubMed

    Minicucci, Domenic; Guediche, Sara; Blumstein, Sheila E

    2013-08-01

    The current study explored how factors of acoustic-phonetic and lexical competition affect access to the lexical-semantic network during spoken word recognition. An auditory semantic priming lexical decision task was presented to subjects while in the MR scanner. Prime-target pairs consisted of prime words with the initial voiceless stop consonants /p/, /t/, and /k/ followed by word and nonword targets. To examine the neural consequences of lexical and sound structure competition, primes either had voiced minimal pair competitors or they did not, and they were either acoustically modified to be poorer exemplars of the voiceless phonetic category or not. Neural activation associated with semantic priming (Unrelated-Related conditions) revealed a bilateral fronto-temporo-parietal network. Within this network, clusters in the left insula/inferior frontal gyrus (IFG), left superior temporal gyrus (STG), and left posterior middle temporal gyrus (pMTG) showed sensitivity to lexical competition. The pMTG also demonstrated sensitivity to acoustic modification, and the insula/IFG showed an interaction between lexical competition and acoustic modification. These findings suggest the posterior lexical-semantic network is modulated by both acoustic-phonetic and lexical structure, and that the resolution of these two sources of competition recruits frontal structures. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Reduced telomere length in subjects with dementia and diabetes mellitus type 2 is independent of apolipoprotein E4 genotype.

    PubMed

    Kota, Lakshmi Narayanan; Bharath, Srikala; Purushottam, Meera; Paul, Pradip; Sivakumar, Palanimuthu Thangaraju; Varghese, Mathew; Jain, Sanjeev

    2014-12-01

    Apolipoprotein E4 gene is associated with increased risk of dementia with comorbid diabetes mellitus. Both dementia and diabetes mellitus type 2 are independently associated with telomere shortening. We assessed relative telomere length and apolipoprotein E genotype in subjects with dementia (n=70) and cognitively normal control groups (n=55) with and without comorbid diabetes mellitus type 2. Relative telomere length was highest in the control group (Q2=0.91) followed by dementia (Q2=0.48) and dementia with comorbid diabetes mellitus type 2 (Q2=0.39). Apolipoprotein E4 allele frequency was highest in dementia with comorbid diabetes mellitus type 2 (0.26). Apolipoprotein E4 allele was not significantly associated with telomere attrition in both dementia and cognitively normal group irrespective of comorbid diabetes mellitus type 2 (P>0.05). The findings suggest that relative telomere length is unrelated to apolipoprotein E4 genotype in dementia and cognitive normal subjects with or without comorbid diabetes mellitus type 2. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Computerized assessment of sustained attention: interactive effects of task demand, noise, and anxiety.

    PubMed

    Ballard, J C

    1996-12-01

    In a sample of 163 college undergraduates, the effects of task demand, noise, and anxiety on Continuous Performance Test (CPT) errors were evaluated with multiple regression and multivariate analysis of variance. Results indicated significantly more omission errors on the difficult task. Complex interaction effects of noise and self-reported anxiety yielded more omissions in quiet intermittent white noise, particularly for high-anxious subjects performing the difficult task. Anxiety levels tended to increase from pretest to posttest, particularly for low-anxious subjects in the quiet, difficult-task condition, while a decrease was seen for high-anxious subjects in the loud, easy-task condition. Commission errors were unrelated to any predictor variables, suggesting that "attention" cannot be considered a unitary phenomenon. The variety of direct and interactive effects on vigilance performance underscore the need for clinicians to use a variety of measures to assess attentional skills, to avoid diagnosis of attention deficits on the basis of a single computerized task performance, and to rule out anxiety and other contributors to poor vigilance task performance.

  20. Developmental prosopagnosia and super-recognition: no special role for surface reflectance processing

    PubMed Central

    Russell, Richard; Chatterjee, Garga; Nakayama, Ken

    2011-01-01

    Face recognition by normal subjects depends in roughly equal proportions on shape and surface reflectance cues, while object recognition depends predominantly on shape cues. It is possible that developmental prosopagnosics are deficient not in their ability to recognize faces per se, but rather in their ability to use reflectance cues. Similarly, super-recognizers’ exceptional ability with face recognition may be a result of superior surface reflectance perception and memory. We tested this possibility by administering tests of face perception and face recognition in which only shape or reflectance cues are available to developmental prosopagnosics, super-recognizers, and control subjects. Face recognition ability and the relative use of shape and pigmentation were unrelated in all the tests. Subjects who were better at using shape or reflectance cues were also better at using the other type of cue. These results do not support the proposal that variation in surface reflectance perception ability is the underlying cause of variation in face recognition ability. Instead, these findings support the idea that face recognition ability is related to neural circuits using representations that integrate shape and pigmentation information. PMID:22192636

  1. Mind wandering and retrieval from episodic memory: a pilot event-related potential study.

    PubMed

    Riby, Leigh Martin; Smallwood, Jonathan; Gunn, Valerie P

    2008-06-01

    The present study investigated the effects of mind wandering (task-unrelated thought) on the subcomponents of episodic memory as reflected by event-related potentials (ERPs). Specifically, individual differences in the pattern of ERP episodic 'old/new' effects (left-parietal, right-frontal and central-negativity effects) were examined across groups of participants experiencing either high or low frequencies of task-unrelated thought during encoding. Twenty participants studied lists of words and line drawings in one of two contexts (red versus green coloured boxes). At test, participants discriminated between target (old words or line drawings presented in one colour) and nontargets (old items from the other colour and new items). On completion of the memory task, participants completed the 'thinking' component of the Dundee Stress State Questionnaire to provide a retrospective measure of task-unrelated thought. Behavioural data indicated that irrespective of the presence of task-unrelated thought, participants were able to complete the memory task equally well. However, an analysis of ERPs across High and Low task-unrelated thought groups revealed differences in retrieval strategy. Those individuals with infrequent episodes of task-unrelated thought at study used a 'pure' recollection strategy (left-parietal effect only). Conversely, those participants experiencing frequent episodes of task-unrelated thought were unable to recollect the stimuli with ease, as indexed by a diminished parietal effect. As a consequence, these participants employed additional strategic processes for task completion, as indexed by an elevated amplitude of central negativity effects. These data are consistent with the decoupling hypothesis of mind wandering which suggests impaired recollection when attention becomes directed away from the task.

  2. Progesterone, prolactin, and gynaecomastia in men with liver disease.

    PubMed Central

    Farthing, M J; Green, J R; Edwards, C R; Dawson, A M

    1982-01-01

    Plasma progesterone was raised in 36 of 50 (72%) men with liver disease compared with 20 healthy male control subjects. Plasma progesterone was significantly higher in men with non-alcoholic cirrhosis with gynaecomastia than those without, but no similar relationship was found in men with alcoholic fatty change and alcoholic cirrhosis. Hyperprolactinaemia was found in 14% of men with liver disease but levels were unrelated to the presence of gynaecomastia. Increased circulating levels of progesterone and prolactin alone do not explain the development of gynaecomastia in patients with liver disease, but progesterone may be an additional factor acting in association with the known disturbances of other sex steroids. PMID:7076004

  3. Similar outcome of upfront-unrelated and matched sibling stem cell transplantation in idiopathic paediatric aplastic anaemia. A study on behalf of the UK Paediatric BMT Working Party, Paediatric Diseases Working Party and Severe Aplastic Anaemia Working Party of EBMT.

    PubMed

    Dufour, Carlo; Veys, Paul; Carraro, Elisa; Bhatnagar, Neha; Pillon, Marta; Wynn, Rob; Gibson, Brenda; Vora, Ajay J; Steward, Colin G; Ewins, Anna M; Hough, Rachael E; de la Fuente, Josu; Velangi, Mark; Amrolia, Persis J; Skinner, Roderick; Bacigalupo, Andrea; Risitano, Antonio M; Socie, Gerard; Peffault de Latour, Regis; Passweg, Jakob; Rovo, Alicia; Tichelli, André; Schrezenmeier, Hubert; Hochsmann, Britta; Bader, Peter; van Biezen, Anja; Aljurf, Mahmoud D; Kulasekararaj, Austin; Marsh, Judith C; Samarasinghe, Sujith

    2015-11-01

    We explored the feasibility of unrelated donor haematopoietic stem cell transplant (HSCT) upfront without prior immunosuppressive therapy (IST) in paediatric idiopathic severe aplastic anaemia (SAA). This cohort was then compared to matched historical controls who had undergone first-line therapy with a matched sibling/family donor (MSD) HSCT (n = 87) or IST with horse antithymocyte globulin and ciclosporin (n = 58) or second-line therapy with unrelated donor HSCT post-failed IST (n = 24). The 2-year overall survival in the upfront cohort was 96 ± 4% compared to 91 ± 3% in the MSD controls (P = 0·30) and 94 ± 3% in the IST controls (P = 0·68) and 74 ± 9% in the unrelated donor HSCT post-IST failure controls (P = 0·02).The 2-year event-free survival in the upfront cohort was 92 ± 5% compared to 87 ± 4% in MSD controls (P = 0·37), 40 ± 7% in IST controls (P = 0·0001) and 74 ± 9% in the unrelated donor HSCT post-IST failure controls (n = 24) (P = 0·02). Outcomes for upfront-unrelated donor HSCT in paediatric idiopathic SAA were similar to MSD HSCT and superior to IST and unrelated donor HSCT post-IST failure. Front-line therapy with matched unrelated donor HSCT is a novel treatment approach and could be considered as first-line therapy in selected paediatric patients who lack a MSD. © 2015 John Wiley & Sons Ltd.

  4. Corruption of phage display libraries by target-unrelated clones: diagnosis and countermeasures.

    PubMed

    Thomas, William D; Golomb, Miriam; Smith, George P

    2010-12-15

    Phage display is used to discover peptides or proteins with a desired target property-most often, affinity for a target selector molecule. Libraries of phage clones displaying diverse surface peptides are subject to a selection process designed to enrich for the target behavior and subsequently propagated to restore phage numbers. A recurrent problem is enrichment of clones, called target-unrelated phages or peptides (TUPs), that lack the target behavior. Many TUPs are propagation related; they have mutations conferring a growth advantage and are enriched during the propagations accompanying selection. Unlike other filamentous phage libraries, fd-tet-based libraries are relatively resistant to propagation-related TUP corruption. Their minus-strand origin is disrupted by a large cassette that simultaneously confers resistance to tetracycline and imposes a rate-limiting growth defect that cannot be bypassed with simple mutations. Nonetheless, a new type of propagation-related TUP emerged in the output of in vivo selections from an fd-tet library. The founding clone had a complex rearrangement that restored the minus-strand origin while retaining tetracycline resistance. The rearrangement involved two recombination events, one with a contaminant having a wild-type minus-strand origin. The founder's infectivity advantage spread by simple recombination to clones displaying different peptides. We propose measures for minimizing TUP corruption. Copyright © 2010 Elsevier Inc. All rights reserved.

  5. Corruption of phage-display libraries by target-unrelated clones: Diagnosis and countermeasures

    PubMed Central

    Thomas, William D.; Golomb, Miriam; Smith, George P.

    2010-01-01

    Phage display is used to discover peptides or proteins with a desired target property—most often, affinity for a target selector molecule. Libraries of phage clones displaying diverse surface peptides are subject to a selection process designed to enrich for the target behavior, and subsequently propagated to restore phage numbers. A recurrent problem is enrichment of clones, called target-unrelated phage (TUPs), that lack the target behavior. Many TUPs are propagation-related; they have mutations conferring a growth advantage, and are enriched during the propagations accompanying selection. Unlike other filamentous phage libraries, fd-tet-based libraries are relatively resistant to propagation-related TUP corruption. Their minus strand origin is disrupted by a large cassette that simultaneously confers resistance to tetracycline and imposes a rate-limiting growth defect that cannot be bypassed with simple mutations. Nonetheless, a new type of propagation-related TUP emerged in the output of in vivo selections from an fd-tet library. The founding clone had a complex rearrangement that restored the minus strand origin while retaining tetracycline resistance. The rearrangement involved two recombination events, one with a contaminant having a wild-type minus strand origin. The founder’s infectivity advantage spread by simple recombination to clones displaying different peptides. We propose measures for minimizing TUP corruption. PMID:20692225

  6. Memory Impairment in Multiple Sclerosis is Due to a Core Deficit in Initial Learning

    PubMed Central

    DeLuca, John; Leavitt, Victoria M.; Chiaravalloti, Nancy; Wylie, Glenn

    2013-01-01

    Persons with multiple sclerosis (MS) suffer memory impairment, but research on the nature of MS-related memory problems is mixed. Some have argued for a core deficit in retrieval, while others have identified deficient initial learning as the core deficit. We used a selective reminding paradigm to determine whether deficient initial learning or delayed retrieval represents the primary memory deficit in 44 persons with MS. Brain atrophy was measured from high-resolution MRIs. Regression analyses examined the impact of brain atrophy on (a) initial learning and delayed retrieval separately, and then (b) delayed retrieval controlling for initial learning. Brain atrophy was negatively associated with both initial learning and delayed retrieval (ps < .01), but brain atrophy was unrelated to retrieval when controlling for initial learning (p > .05). In addition, brain atrophy was associated with inefficient learning across initial acquisition trials, and brain atrophy was unrelated to delayed recall among MS subjects who successfully acquired the word list (although such learning frequently required many exposures). Taken together, memory deficits in MS are a result of deficits in initial learning; moreover, initial learning mediates the relationship between brain atrophy and subsequent retrieval, thereby supporting the core learning-deficit hypothesis of memory impairment in MS. PMID:23832311

  7. Simple genetic transformation assay for rapid diagnosis of Moraxella osloensis.

    PubMed

    Juni, E

    1974-01-01

    A genetic transformation assay for unequivocal identification of strains of Moraxella osloensis is described. In this assay a stable tryptophan auxotroph is transformed to prototrophy by deoxyribonucleic acid (DNA) samples from other strains of M. osloensis but not by DNA samples from unrelated bacteria. The test is simple to perform and definitive results can be obtained in less than 24 h. The procedure, which is suitable for routine diagnosis in a clinical laboratory, involves a rapid method for preparation of crude transforming DNA from small quantities of bacterial cells and permits simultaneous examination of large numbers of isolated cultures. The assay was shown to correctly identify 27 strains previously classified as M. osloensis. Forty-five other gram-negative, oxidase-positive, nonmotile coccobacilli, which might be confused with M. osloensis unless subject to more extensive testing, were shown to be unrelated genetically to M. osloensis. The transformation assay clearly distinguishes M. osloensis from Acinetobacter. Although most strains of M. osloensis are nonfastidious, being able to grow in a mineral medium supplemented with a single organic carbon source, one of the strains tested was only able to grow on fairly complex media and could not be transformed to grow on simple media. Inability to alkalize Simmons citrate agar was shown not to be characteristic of all strains of M. osloensis.

  8. Simple Genetic Transformation Assay for Rapid Diagnosis of Moraxella osloensis

    PubMed Central

    Juni, Elliot

    1974-01-01

    A genetic transformation assay for unequivocal identification of strains of Moraxella osloensis is described. In this assay a stable tryptophan auxotroph is transformed to prototrophy by deoxyribonucleic acid (DNA) samples from other strains of M. osloensis but not by DNA samples from unrelated bacteria. The test is simple to perform and definitive results can be obtained in less than 24 h. The procedure, which is suitable for routine diagnosis in a clinical laboratory, involves a rapid method for preparation of crude transforming DNA from small quantities of bacterial cells and permits simultaneous examination of large numbers of isolated cultures. The assay was shown to correctly identify 27 strains previously classified as M. osloensis. Forty-five other gram-negative, oxidase-positive, nonmotile coccobacilli, which might be confused with M. osloensis unless subject to more extensive testing, were shown to be unrelated genetically to M. osloensis. The transformation assay clearly distinguishes M. osloensis from Acinetobacter. Although most strains of M. osloensis are nonfastidious, being able to grow in a mineral medium supplemented with a single organic carbon source, one of the strains tested was only able to grow on fairly complex media and could not be transformed to grow on simple media. Inability to alkalize Simmons citrate agar was shown not to be characteristic of all strains of M. osloensis. Images PMID:4589126

  9. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  10. Associative processing and paranormal belief.

    PubMed

    Gianotti, L R; Mohr, C; Pizzagalli, D; Lehmann, D; Brugger, P

    2001-12-01

    In the present study we introduce a novel task for the quantitative assessment of both originality and speed of individual associations. This 'BAG' (Bridge-the-Associative-Gap) task was used to investigate the relationships between creativity and paranormal belief. Twelve strong 'believers' and 12 strong 'skeptics' in paranormal phenomena were selected from a large student population (n > 350). Subjects were asked to produce single-word associations to word pairs. In 40 trials the two stimulus words were semantically indirectly related and in 40 other trials the words were semantically unrelated. Separately for these two stimulus types, response commonalities and association latencies were calculated. The main finding was that for unrelated stimuli, believers produced associations that were more original (had a lower frequency of occurrence in the group as a whole) than those of the skeptics. For the interpretation of the result we propose a model of association behavior that captures both 'positive' psychological aspects (i.e., verbal creativity) and 'negative' aspects (susceptibility to unfounded inferences), and outline its relevance for psychiatry. This model suggests that believers adopt a looser response criterion than skeptics when confronted with 'semantic noise'. Such a signal detection view of the presence/absence of judgments for loose semantic relations may help to elucidate the commonalities between creative thinking, paranormal belief and delusional ideation.

  11. MAP3K1 May be a Promising Susceptibility Gene for Type 2 Diabetes Mellitus in an Iranian Population

    PubMed Central

    Torkamandi, Shahram; Bastami, Milad; Ghaedi, Hamid; Moghadam, Fateme; Mirfakhraie, Reza; Omrani, Mir Davood

    2016-01-01

    Considering that MAPK (mitogen- activated protein kinase) signaling pathway has an important role in the progression of inflammatory cytokine secretion in type 2 diabetes mellitus (T2DM), we have recently investigated the reported genetic polymorphism from genome wide association study in MAP3K1 (mitogen-activated protein kinase kinase kinase 1) in diabetes as an important member of MAPK signaling. This study aimed to investigate the possible association of rs10461617 at the upstream of MAP3K1 gene in an Iranian case-control study with the risk of T2DM. The study population was comprised of 342 unrelated Iranian individuals including 177 patients with T2DM and 165 unrelated healthy control subjects. Genotyping was performed using PCR-RFLP and confirmed with sequencing. In a logistic regression analysis, the rs10461617A allele was associated with a significantly higher risk of T2DM assuming the log- additive model (OR: 1.44, 95% CI: 1.01-2.05, P = 0.039). In conclusion, we provided the first evidence for the association of rs10461617 at the upstream of MAP3K1 with the risk of T2DM in an Iranian population. PMID:27942499

  12. [Forensic medical expertise of injuries in the anorectal region and rectum unrelated to attempts at sexual abuse].

    PubMed

    Dmitrieva, O A; Smirnova, E V

    2011-01-01

    The results of analysis of 46 commission forensic medical expertises are presented based on the materials concerning injuries and changes in the anorectal region and rectum unrelated to attempts at sexual abuse. The materials were collected and stored by the Primorskoye territorial Bureau of forensic medical expertise during 5 years, from 2005 to 2009. All injuries and changes were categorized into several groups in terms of their origin, viz. car accidents, inadequate medical care, insertion of foreign bodies, falls on sharp and protruding objects, gunshot wounds, chemical and thermal burns, sports training, etc. The occurrence of the injuries is illustrated by the examples from forensic medical practice. It is concluded that experts describing injuries and changes in the anorectal region and rectum must act in conformity with the order of the Russian Ministry of Health No 346 dated October 21, 2010) and use instrumental methods and terminology accepted in modern proctology. The severity of harm to health in subjects presenting with injuries and changes in the anorectal region and rectum should be evaluated in terms of both the degree of the threat to life and the outcome of the treatment with special reference to the duration of health impairment, severity of the trauma, and its consequences (anorectal dysfunction).

  13. Neural correlates of the modified Stroop effect in post-traumatic stress disorder: an event-related potential study.

    PubMed

    Chen, Xiaoyi; Wei, Dongtao; Dupuis-Roy, Nicolas; Du, Xue; Qiu, Jiang; Zhang, Qinglin

    2012-12-19

    Previous studies have provided electrophysiological evidence for attentional abnormalities in patients with post-traumatic stress disorder (PTSD). The present study examined the electrophysiological activity of trauma-exposed patients with or without a PTSD during a modified Stroop task. The PTSD group showed a reduced P2 and P3 amplitude relative to the non-PTSD group under both the earthquake-related and earthquake-unrelated words conditions. Importantly, the earthquake-related words elicited a greater P3 amplitude (350-450 ms after stimulus) than did unrelated words in the non-PTSD group, whereas no significant difference was found in the PTSD group. This indicates that PTSD patients had some attention deficits compared with non-PTSD individuals, and that these attention deficits were not just limited to earthquake-related words.

  14. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

    PubMed

    Haack, Tobias B; Staufner, Christian; Köpke, Marlies G; Straub, Beate K; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Kühr, Joachim; Himbert, Urban; Taylor, Robert W; Distelmaier, Felix; Vockley, Jerry; Ghaloul-Gonzalez, Lina; Zschocke, Johannes; Kremer, Laura S; Graf, Elisabeth; Schwarzmayr, Thomas; Bader, Daniel M; Gagneur, Julien; Wieland, Thomas; Terrile, Caterina; Strom, Tim M; Meitinger, Thomas; Hoffmann, Georg F; Prokisch, Holger

    2015-07-02

    Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  15. MPLW515L mutation in acute megakaryoblastic leukaemia.

    PubMed

    Hussein, K; Bock, O; Theophile, K; Schulz-Bischof, K; Porwit, A; Schlue, J; Jonigk, D; Kreipe, H

    2009-05-01

    The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing. In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4). We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.

  16. Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

    PubMed Central

    Fedyna, Alison; Drayna, Dennis; Kang, Changsoo

    2010-01-01

    Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals carrying this mutation were analyzed in an effort to distinguish whether these arise from repeated mutation at the same site, or whether they represent a founder mutation with a single origin. Results show that all 12 chromosomes carrying this mutation share a common haplotype in this region, indicating it is a founder mutation. Further analysis estimated the age of this allele to be ~572 generations. Construction of a cladogram tracing the mutation through our study sample also supports the founder mutation hypothesis. PMID:20944643

  17. Cognitive and emotional processing of pleasant and unpleasant experiences in major depression: A matter of vantage point?

    PubMed

    Pfaltz, Monique C; Wu, Gwyneth W Y; Liu, Guanyu; Tankersley, Amelia P; Stilley, Ashley M; Plichta, Michael M; McNally, Richard J

    2017-03-01

    In nonclinical populations, adopting a third-person perspective as opposed to a first-person perspective while analyzing negative emotional experiences fosters understanding of these experiences and reduces negative emotional reactivity. We assessed whether this generalizes to people with major depression (MD). Additionally, we assessed whether the emotion-reducing effects of adopting a third-person perspective also occur when subjects with MD and HC subjects analyze positive experiences. Seventy-two MD subjects and 82 HC subjects analyzed a happy and a negative experience from either a first-person or a third-person perspective. Unexpectedly, we found no emotion-reducing effects of third-person perspective in either group thinking about negative events. However, across groups, third-person perspective was associated with less recounting of negative experiences and with a clearer, more coherent understanding of them. Negative affect decreased and positive affect increased in both groups analyzing happy experiences. In MD subjects, decreases in depressive affect were stronger for the third-person perspective. In both groups, positive affect increased and negative affect decreased more strongly for the third-person perspective. While reflecting on their positive memory, MD subjects adopted their assigned perspective for a shorter amount of time (70%) than HC subjects (78%). However, percentage of time participants adopted their assigned perspective was unrelated to the significant effects we found. Both people suffering from MD and healthy individuals may benefit from processing pleasant experiences, especially when adopting a self-distant perspective. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population.

    PubMed

    Miyasaka, K; Hosoya, H; Sekime, A; Ohta, M; Amono, H; Matsushita, S; Suzuki, K; Higuchi, S; Funakoshi, A

    2006-09-01

    Eating disorders (EDs) have a highly heterogeneous etiology and multiple genetic factors might contribute to their pathogenesis. Ghrelin, a novel growth hormone-releasing peptide, enhances appetite and increases food intake, and human ghrelin plasma levels are inversely correlated with body mass index. In the present study, we examined the 171T/C polymorphism of the ghrelin receptor (growth hormone secretagogue receptor, GHSR) gene in patients diagnosed with EDs, because the subjects having ghrelin gene polymorphism (Leu72Met) was not detected in a Japanese population, previously. In addition, beta3 adrenergic receptor gene polymorphism (Try64Arg) and cholecystokinin (CCK)-A receptor (R) gene polymorphism (-81A/G, -128G/T), which are both associated with obesity, were investigated. The subjects consisted of 228 Japanese patients with EDs [96 anorexia nervosa (AN), 116 bulimia nervosa (BN) and 16 not otherwise specified (NOS)]. The age- and gender-matched control group consisted of 284 unrelated Japanese subjects. The frequency of the CC type of the GHSR gene was significantly higher in BN subjects than in control subjects (chi(2) = 4.47, p = 0.035, odds ratio = 2.05, Bonferroni correction: p = 0.070), while the frequency in AN subjects was not different from that in controls. The distribution of neither beta3 adrenergic receptor gene nor CCK-AR polymorphism differed between EDs and control subjects. Therefore, the CC type of GHSR gene polymorphism (171T/C) is a risk factor for BN, but not for AN.

  19. Tomato juice supplementation in young women reduces inflammatory adipokine levels independently of body fat reduction.

    PubMed

    Li, Yu-Fen; Chang, Ya-Yuan; Huang, Hui-Chi; Wu, Yi-Chen; Yang, Mei-Due; Chao, Pei-Min

    2015-05-01

    Lycopene is a carotene and phytochemical known to protect against metabolic diseases. It is found in red fruits and vegetables, predominantly tomatoes. This study aimed to show the supplementation effect of tomato juice on indices associated with metabolic health and adipokine profiles in generally healthy people. A total of 30 young females (20- to 30-years-old) with a body mass index (BMI) ≥ 20 were recruited, of whom 25 completed the entire study. The subjects continued with their normal diet and exercise schedule, but were given 280 mL of tomato juice (containing 32.5 mg of lycopene) daily for 2 mo. Metabolic indices, including anthropometric data and serum levels of glucose, lipids, adipokines, lycopene, and antioxidants, were compared pre- and postintervention. Tomato juice supplementation significantly reduced body weight, body fat, waist circumference, BMI, and serum levels of cholesterol, monocyte chemoattractant protein-1 (MCP-1), and thiobarbituric reactive substances, while significantly increasing serum levels of adiponectin, triglyceride, and lycopene. When subjects were stratified by body fat change, i.e., reduction or non-reduction (including increase or no change), the tomato juice-induced reduction in waist circumference, serum cholesterol, and MCP-1 levels and increase in adiponectin and lycopene levels were seen in both subgroups. The changes in waist circumference, cholesterol, MCP-1, and adiponectin levels remained significant after adjusting for each covariable individually, with the exception of lycopene. These results show that daily tomato juice supplementation reduces waist circumference, as well as serum cholesterol and inflammatory adipokine levels in young healthy women and that these effects are unrelated to body fat changes. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Sentence Context Prevails Over Word Association in Aphasia Patients with Spared Comprehension: Evidence from N400 Event-Related Potential

    PubMed Central

    Khachatryan, Elvira; De Letter, Miet; Vanhoof, Gertie; Goeleven, Ann; Van Hulle, Marc M.

    2017-01-01

    Behavioral and event-related potential (ERP) studies on aphasia patients showed that lexical information is not lost but rather its integration into the working context is hampered. Studies have been conducted on the processing of sentence-level information (meaningful versus meaningless) and of word-level information (related versus unrelated) in aphasia patients, but we are not aware of any study that assesses the relationship between the two. In healthy subjects the processing of a single word in a sentence context has been studied using the N400 ERP. It was shown that, even when there is only a weak expectation of a final word in a sentence, this expectation will dominate word relatedness. In order to study the effect of semantic relatedness between words in sentence processing in aphasia patients, we conducted a crossed-design ERP study, crossing the factors of word relatedness and sentence congruity. We tested aphasia patients with mild to minimum comprehension deficit and healthy young and older (age-matched with our patients) controls on a semantic anomaly judgment task when simultaneously recording EEG. Our results show that our aphasia patient’s N400 amplitudes in response to the sentences of our crossed-design study were similar to those of our age-matched healthy subjects. However, we detected an increase in the N400 ERP latency in those patients, indicating a delay in the integration of the new word into the working context. Additionally, we observed a positive correlation between comprehension level of those patients and N400 effect in response to meaningful sentences without word relatedness contrasted to meaningless sentences without word relatedness. PMID:28119590

  1. [Tolerance and chronic acceptability of lupine (Lupinus albus var. Multolupa) flour for feeding of young adults].

    PubMed

    Gattás Zaror, V; Barrera Acevedo, G; Yáñez Soto, E; Uauy-Dagach Imbarack, R

    1990-12-01

    Cookies enriched with sweet lupin flour were tested for their acceptability and tolerance in young adults, and compared with control cookies. A number of hematological, hepatic and renal tests were performed, as well as the measurement of allergic response, in order to detect possible changes induced by lupin. The study included 31 young adults assigned to two groups which comprised males and females, with mean ages of 26 +/- 6.5, and 27 +/- 5.9 years, respectively. The protein and energy intakes of the subjects were calculated, prior to the study, using the methods of dietary history and the 24-hr recall method. The subjects were free of any abnormalities detectable by medical history, physical examination, biochemical and hematological tests. Body weight and height were measured before the beginning of the study. The ratio weight/height of the individuals was calculated using the Jelliffe's standards. The mean values for the calorie and protein intakes were 1,919 kcal (SD +/- 655) and 59.3 g (SD +/- 22.7). The calorie contents of the control and experimental cookies were 507 and 610 kcal respectively, while the protein contents were 8.4 g and 24.1 g, respectively. The body weight of subjects in both groups increased significantly during the study (P less than 0.01 and P less than 0.02). No significant changes were recorded for other anthropometric parameters, except for the tricipital skinfold (P less than 0.01). Changes observed in hematological parameters were judged to be unrelated to lupin flour. The acceptability and tolerance to high levels of lupin flour were good. The above-mentioned results show that sweet lupin flour is a good and safe source of energy and protein for adults.

  2. Enhancing memory for lists by grouped presentation and rehearsal: a pilot study in healthy subjects with unexpected results.

    PubMed

    Hoppe, Christian; Stojanovic, Jelena; Elger, Christian E

    2009-12-01

    List learning is probably the most established paradigm for the psychometric evaluation of episodic memory deficits in different neuropsychiatric conditions including epilepsy. Strategies which are capable of increasing the test performance might be promising candidates for a therapeutic improvement of daily memory performance. Based on the classical 'temporal grouping effect' we wanted to evaluate the memory-enhancing potential of disentangling perceiving, rehearsing and encoding by temporally grouped presentation and group-wise reproduction during acquisition. According to the ethical principle of subsidiary the study was performed in healthy adolescents (N=126) before setting-up a patient study. Subjects had to learn a list of 12 semantically unrelated nouns and a list of 12 figures during two acquisition trials under one of four experimental conditions defined by the size of presented item groups (GS): GS=1 (single items, i.e., 12 x 1 item), GS=3 (4 x 3 items), GS=6 (2 x 6 items), and GS=12 (standard presentation mode, i.e., 1 x 12 items). Repeated measures MANOVA confirmed a positive effect of smaller GS on acquisition performance but the grouping condition obtained no effect on immediate and delayed free recall or on yes/no recognition. For verbal retention, GS=12 even showed a tendency toward an advantage as compared to GS=3. Although appearing reasonable and promising, facilitating acquisition during list learning by temporal grouping and grouped overt rehearsal turned out to be ineffective with regard to long-term memory encoding and retrieval. A strategy however which fails in healthy subjects is unlikely to obtain a therapeutic potential in patients with memory deficits.

  3. The incidence of spontaneous movements (myoclonus) in dogs undergoing total intravenous anaesthesia with propofol.

    PubMed

    Cattai, Andrea; Rabozzi, Roberto; Natale, Valentina; Franci, Paolo

    2015-01-01

    To evaluate the incidence of myoclonus (involuntary movements during anaesthesia, unrelated to inadequate hypnosis or analgesia, and of sufficient severity to require treatment) in dogs anaesthetized with a TIVA of propofol with or without the use of fentanyl. Retrospective clinical study. Dogs, undergoing general anaesthesia for clinical procedures between January 2012 and January 2013 and subject to TIVA with propofol. A retrospective analysis reviewed the medical and anaesthetic records. Animals with existing or potential neurological or neuromuscular pathology in the anamnesis or upon clinical examination and cases with incomplete clinical records were excluded. Myoclonus was considered as involuntary muscle contractions which did not cease following a bolus administration of propofol or fentanyl and, due to their intensity and duration, made continuation of the procedure impracticable without other drug administration. Tremors, paddling or muscle spasms, explicable as insufficient hypnosis or analgesia, and transient excitatory phenomena only present during the awakening phase, were not considered as myoclonus. Out of a total of 492 dogs undergoing anaesthesia, six mixed breed dogs (1.2%), one male and five females, American Society of Anaesthesiologists (ASA) physical status I, median (range) weight 20.5 (7-37) kg and age 1.5 (1-5) years had myoclonus according to the aforementioned definition. In all subjects, myoclonus appeared within 20 minutes after induction of anaesthesia, and mainly involved the limb muscles. All subjects appeared to be in an adequate plane of anaesthesia before and during myoclonus. This study shows that 1.2% of dogs, undergoing TIVA with propofol with or without fentanyl administration, developed myoclonus, which required to be, and were treated successfully pharmacologically. The cause of this phenomenon is yet to be determined. © 2014 Association of Veterinary Anaesthetists and the American College of Veterinary Anesthesia and Analgesia.

  4. Mixed Model Association with Family-Biased Case-Control Ascertainment.

    PubMed

    Hayeck, Tristan J; Loh, Po-Ru; Pollack, Samuela; Gusev, Alexander; Patterson, Nick; Zaitlen, Noah A; Price, Alkes L

    2017-01-05

    Mixed models have become the tool of choice for genetic association studies; however, standard mixed model methods may be poorly calibrated or underpowered under family sampling bias and/or case-control ascertainment. Previously, we introduced a liability threshold-based mixed model association statistic (LTMLM) to address case-control ascertainment in unrelated samples. Here, we consider family-biased case-control ascertainment, where case and control subjects are ascertained non-randomly with respect to family relatedness. Previous work has shown that this type of ascertainment can severely bias heritability estimates; we show here that it also impacts mixed model association statistics. We introduce a family-based association statistic (LT-Fam) that is robust to this problem. Similar to LTMLM, LT-Fam is computed from posterior mean liabilities (PML) under a liability threshold model; however, LT-Fam uses published narrow-sense heritability estimates to avoid the problem of biased heritability estimation, enabling correct calibration. In simulations with family-biased case-control ascertainment, LT-Fam was correctly calibrated (average χ 2 = 1.00-1.02 for null SNPs), whereas the Armitage trend test (ATT), standard mixed model association (MLM), and case-control retrospective association test (CARAT) were mis-calibrated (e.g., average χ 2 = 0.50-1.22 for MLM, 0.89-2.65 for CARAT). LT-Fam also attained higher power than other methods in some settings. In 1,259 type 2 diabetes-affected case subjects and 5,765 control subjects from the CARe cohort, downsampled to induce family-biased ascertainment, LT-Fam was correctly calibrated whereas ATT, MLM, and CARAT were again mis-calibrated. Our results highlight the importance of modeling family sampling bias in case-control datasets with related samples. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  5. Somatic Mosaicism Underlies X-linked Acrogigantism (XLAG) Syndrome in Sporadic Male Subjects

    PubMed Central

    Daly, Adrian F.; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W.; Naves, Luciana A.; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J.; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R.; Stratakis, Constantine A.; Beckers., Albert

    2016-01-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101. We studied XLAG syndrome patients (N=18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome were identified with Xq26.3 duplications using high definition array comparative genome hybridization (HD-aCGH). We noted males with XLAG had a decreased log2 ratio compared with expected values, suggesting potential mosaicism, while females showed no such decrease. As compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1-53.8%. These characteristics were replicated using a novel, personalized breakpoint-junction specific quantification droplet digital PCR (ddPCR) technique. Using a separate ddPCR technique we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism and identified one female gigantism patient that had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. PMID:26935837

  6. Meditation and Music Improve Memory and Cognitive Function in Adults with Subjective Cognitive Decline: A Pilot Randomized Controlled Trial.

    PubMed

    Innes, Kim E; Selfe, Terry Kit; Khalsa, Dharma Singh; Kandati, Sahiti

    2017-01-01

    While effective therapies for preventing or slowing cognitive decline in at-risk populations remain elusive, evidence suggests mind-body interventions may hold promise. In this study, we assessed the effects of Kirtan Kriya meditation (KK) and music listening (ML) on cognitive outcomes in adults experiencing subjective cognitive decline (SCD), a strong predictor of Alzheimer's disease. Sixty participants with SCD were randomized to a KK or ML program and asked to practice 12 minutes/day for 3 months, then at their discretion for the ensuing 3 months. At baseline, 3 months, and 6 months we measured memory and cognitive functioning [Memory Functioning Questionnaire (MFQ), Trail-making Test (TMT-A/B), and Digit-Symbol Substitution Test (DSST)]. The 6-month study was completed by 53 participants (88%). Participants performed an average of 93% (91% KK, 94% ML) of sessions in the first 3 months, and 71% (68% KK, 74% ML) during the 3-month, practice-optional, follow-up period. Both groups showed marked and significant improvements at 3 months in memory and cognitive performance (MFQ, DSST, TMT-A/B; p's≤0.04). At 6 months, overall gains were maintained or improved (p's≤0.006), with effect sizes ranging from medium (DSST, ML group) to large (DSST, KK group; TMT-A/B, MFQ). Changes were unrelated to treatment expectancies and did not differ by age, gender, baseline cognition scores, or other factors. Findings of this preliminary randomized controlled trial suggest practice of meditation or ML can significantly enhance both subjective memory function and objective cognitive performance in adults with SCD, and may offer promise for improving outcomes in this population.

  7. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

    PubMed

    Daly, Adrian F; Yuan, Bo; Fina, Frederic; Caberg, Jean-Hubert; Trivellin, Giampaolo; Rostomyan, Liliya; de Herder, Wouter W; Naves, Luciana A; Metzger, Daniel; Cuny, Thomas; Rabl, Wolfgang; Shah, Nalini; Jaffrain-Rea, Marie-Lise; Zatelli, Maria Chiara; Faucz, Fabio R; Castermans, Emilie; Nanni-Metellus, Isabelle; Lodish, Maya; Muhammad, Ammar; Palmeira, Leonor; Potorac, Iulia; Mantovani, Giovanna; Neggers, Sebastian J; Klein, Marc; Barlier, Anne; Liu, Pengfei; Ouafik, L'Houcine; Bours, Vincent; Lupski, James R; Stratakis, Constantine A; Beckers, Albert

    2016-04-01

    Somatic mosaicism has been implicated as a causative mechanism in a number of genetic and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently characterized genomic form of pediatric gigantism due to aggressive pituitary tumors that is caused by submicroscopic chromosome Xq26.3 duplications that include GPR101 We studied XLAG syndrome patients (n= 18) to determine if somatic mosaicism contributed to the genomic pathophysiology. Eighteen subjects with XLAG syndrome caused by Xq26.3 duplications were identified using high-definition array comparative genomic hybridization (HD-aCGH). We noted that males with XLAG had a decreased log2ratio (LR) compared with expected values, suggesting potential mosaicism, whereas females showed no such decrease. Compared with familial male XLAG cases, sporadic males had more marked evidence for mosaicism, with levels of Xq26.3 duplication between 16.1 and 53.8%. These characteristics were replicated using a novel, personalized breakpoint junction-specific quantification droplet digital polymerase chain reaction (ddPCR) technique. Using a separate ddPCR technique, we studied the feasibility of identifying XLAG syndrome cases in a distinct patient population of 64 unrelated subjects with acromegaly/gigantism, and identified one female gigantism patient who had had increased copy number variation (CNV) threshold for GPR101 that was subsequently diagnosed as having XLAG syndrome on HD-aCGH. Employing a combination of HD-aCGH and novel ddPCR approaches, we have demonstrated, for the first time, that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at chromosome Xq26.3. Somatic mosaicism was shown to occur in sporadic males but not in females with XLAG syndrome, although the clinical characteristics of the disease were similarly severe in both sexes. © 2016 Society for Endocrinology.

  8. Demonstration of an anti-hyperalgesic effect of a novel pan-Trk inhibitor PF-06273340 in a battery of human evoked pain models.

    PubMed

    Loudon, Peter; Siebenga, Pieter; Gorman, Donal; Gore, Katrina; Dua, Pinky; van Amerongen, Guido; Hay, Justin L; Groeneveld, Geert Jan; Butt, Richard P

    2018-02-01

    Inhibitors of nerve growth factor (NGF) reduce pain in several chronic pain indications. NGF signals through tyrosine kinase receptors of the tropomyosin-related kinase (Trk) family and the unrelated p75 receptor. PF-06273340 is a small molecule inhibitor of Trks A, B and C that reduces pain in nonclinical models, and the present study aimed to investigate the pharmacodynamics of this first-in-class molecule in humans. A randomized, double-blind, single-dose, placebo- and active-controlled five-period crossover study was conducted in healthy human subjects (NCT02260947). Subjects received five treatments: PF-06273340 50 mg, PF-06273340 400 mg, pregabalin 300 mg, ibuprofen 600 mg and placebo. The five primary endpoints were the pain detection threshold for the thermal pain tests and the pain tolerance threshold for the cold pressor, electrical stair and pressure pain tests. The trial had predefined decision rules based on 95% confidence that the PF-06273340 effect was better than that of placebo. Twenty subjects entered the study, with 18 completing all five periods. The high dose of PF-06273340 met the decision rules on the ultraviolet (UV) B skin thermal pain endpoint [least squares (LS) mean vs. placebo: 1.13, 95% confidence interval: 0.64-1.61], but not on the other four primary endpoints. The low dose did not meet the decision criteria for any of the five primary endpoints. Pregabalin (cold pressor and electrical stair tests) and ibuprofen (UVB thermal pain) showed significant analgesic effects on expected endpoints. The study demonstrated, for the first time, the translation of nonclinical effects into man in an inflammatory pain analgesic pharmacodynamic endpoint using a pan-Trk inhibitor. © 2017 The British Pharmacological Society.

  9. Family distribution of anti-F(ab')2 antibodies in relatives of patients with systemic lupus erythematosus.

    PubMed Central

    Silvestris, F; Searles, R P; Bankhurst, A D; Williams, R C

    1985-01-01

    Recently we reported an inverse relationship between the levels of anti-F(ab')2 antibodies and disease activity in systemic lupus erythematosus (SLE). The present study focused on anti-F(ab')2 antibodies in unaffected relatives of SLE patients. Sixty sera from first degree family members from 11 SLE families and 49 sera from 8 control families were studied. Percentage of SLE family members with anti-DNA antibodies (15%) was higher than than control family sera (8%, P less than 0.05). Anti-F(ab')2 antibodies were measured using ELISA assays. The SLE family sera had higher amounts of anti-F(ab')2 antibodies than the normal control family group (P = 0.0051). In an effort to determine if anti-F(ab')2 antibodies found in high titres in the sera of some SLE family members had specificity for the F(ab')2 fragment of anti-DNA antibodies of the SLE relative patients, DNA-anti-DNA inhibition experiments were performed using anti-F(ab')2 prepared from the relative in parallel with anti-F(ab')2 prepared from normal controls with equivalent high titres of serum anti-F(ab')2. Inhibition exhibited by anti-F(ab')2 of first degree relatives was higher than that obtained from control normal donors (P less than 0.02). Such differences in inhibition were not recorded using a control tetanus toxoid-anti-tetanus toxoid assay. In direct binding ELISA experiments, peroxidase-conjugated anti-F(ab')2 antibodies from the same first degree relative showed high relative specificity against purified anti-DNA antibodies of his SLE proband when compared to those obtained against different anti-DNA antibodies isolated from unrelated SLE patients (P less than 0.001). Such a substantial difference was not observed in parallel experiments using peroxidase conjugated anti-F(ab')2 antibodies from normal controls unrelated to SLE subjects. PMID:3874025

  10. 20 CFR 404.447 - Evaluation of factors involved in substantial services test.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... business includes all the time spent by the individual in any activity, whether physical or mental, at the... business which cannot reasonably be considered unrelated to business activities is considered time devoted... significant reduction in the amount or importance of services rendered in the business tends to show that the...

  11. The Economics of Persistence: Graduation Rates of Athletes as Labor Market Choice.

    ERIC Educational Resources Information Center

    DeBrock, Lawrence; And Others

    1996-01-01

    Analysis of data from NCAA Division I schools for male football and male and female basketball players shows that traditional labor market opportunities unrelated to sports are significant explanatory variables for athletes' academic persistence. Professional sports opportunities also have a significant impact on the graduation rate of athletes.…

  12. Knox's Cube Imitation Test: A Historical Review and an Experimental Analysis

    ERIC Educational Resources Information Center

    Richardson, John T. E.

    2005-01-01

    The cube imitation test was developed by Knox (1913) as a nonverbal test of intelligence. Many variants show satisfactory reliability, but performance is correlated both with Verbal IQ and with Performance IQ. Performance is impaired by cerebral lesions but unrelated to the side of lesion. Examinees describe both verbal and visuospatial…

  13. Self-recognition, color signals, and cycles of greenbeard mutualism and altruism

    PubMed Central

    Sinervo, Barry; Chaine, Alexis; Clobert, Jean; Calsbeek, Ryan; Hazard, Lisa; Lancaster, Lesley; McAdam, Andrew G.; Alonzo, Suzanne; Corrigan, Gwynne; Hochberg, Michael E.

    2006-01-01

    Altruism presents a challenge to evolutionary theory because selection should favor selfish over caring strategies. Greenbeard altruism resolves this paradox by allowing cooperators to identify individuals carrying similar alleles producing a form of genic selection. In side-blotched lizards, genetically similar but unrelated blue male morphs settle on adjacent territories and cooperate. Here we show that payoffs of cooperation depend on asymmetric costs of orange neighbors. One blue male experiences low fitness and buffers his unrelated partner from aggressive orange males despite the potential benefits of defection. We show that recognition behavior is highly heritable in nature, and we map genetic factors underlying color and self-recognition behavior of genetic similarity in both sexes. Recognition and cooperation arise from genome-wide factors based on our mapping study of the location of genes responsible for self-recognition behavior, recognition of blue color, and the color locus. Our results provide an example of greenbeard interactions in a vertebrate that are typified by cycles of greenbeard mutualism interspersed with phases of transient true altruism. Such cycles provide a mechanism encouraging the origin and stability of true altruism. PMID:16651531

  14. A sense of embodiment is reflected in people's signature size.

    PubMed

    Rawal, Adhip; Harmer, Catherine J; Park, Rebecca J; O'Sullivan, Ursula D; Williams, J Mark G

    2014-01-01

    The size of a person's signature may reveal implicit information about how the self is perceived although this has not been closely examined. We conducted three experiments to test whether increases in signature size can be induced. Specifically, the aim of these experiments was to test whether changes in signature size reflect a person's current implicit sense of embodiment. Experiment 1 showed that an implicit affect task (positive subliminal evaluative conditioning) led to increases in signature size relative to an affectively neutral task, showing that implicit affective cues alter signature size. Experiments 2 and 3 demonstrated increases in signature size following experiential self-focus on sensory and affective stimuli relative to both conceptual self-focus and external (non-self-focus) in both healthy participants and patients with anorexia nervosa, a disorder associated with self-evaluation and a sense of disembodiment. In all three experiments, increases in signature size were unrelated to changes in self-reported mood and larger than manipulation unrelated variations. Together, these findings suggest that a person's sense of embodiment is reflected in their signature size.

  15. Enterobacter gergoviae adaptation to preservatives commonly used in cosmetic industry.

    PubMed

    Périamé, M; Pagès, J-M; Davin-Regli, A

    2014-08-01

    The aim of this study was to obtain a better understanding regarding the origin of recurrent contamination by Enterobacter gergoviae in diverse cosmetic formula. We studied 65 isolates collected from various sources (clinical, food, cosmetics). RAPD analysis using AP12H, REP and ERIC-PCR was carried out for epidemiological typing. Evaluation of susceptibility to preservatives currently used in cosmetics for a representative panel of collection strains was measured. Preservative efficacy was evaluated by minimum inhibitory concentrations and minimum bactericidal concentrations (MBCs). Eighty per cent of isolates was unrelated. E. gergoviae showed significant levels of resistance to preservatives. MBC was higher than maximum permitted concentrations imposed by European Commission (EC). Association of preservatives showed in rare case additive effects, and no synergic effects were observed. Most of the cosmetic formulations are contaminated with unrelated E. gergoviae strains. Maximum allowed concentrations for sodium benzoate are inefficient to limit proliferation and control adaptability to this bacterium in cosmetic products. Efflux mechanisms should be involved in methylisothiazolinone-chloromethylisothiazolinone and triclosan adaptation. © 2014 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

  16. A Sense of Embodiment Is Reflected in People's Signature Size

    PubMed Central

    Rawal, Adhip; Harmer, Catherine J.; Park, Rebecca J.; O'Sullivan, Ursula D.; Williams, J. Mark G.

    2014-01-01

    Background The size of a person's signature may reveal implicit information about how the self is perceived although this has not been closely examined. Methods/Results We conducted three experiments to test whether increases in signature size can be induced. Specifically, the aim of these experiments was to test whether changes in signature size reflect a person's current implicit sense of embodiment. Experiment 1 showed that an implicit affect task (positive subliminal evaluative conditioning) led to increases in signature size relative to an affectively neutral task, showing that implicit affective cues alter signature size. Experiments 2 and 3 demonstrated increases in signature size following experiential self-focus on sensory and affective stimuli relative to both conceptual self-focus and external (non-self-focus) in both healthy participants and patients with anorexia nervosa, a disorder associated with self-evaluation and a sense of disembodiment. In all three experiments, increases in signature size were unrelated to changes in self-reported mood and larger than manipulation unrelated variations. Conclusions Together, these findings suggest that a person's sense of embodiment is reflected in their signature size. PMID:24533088

  17. Antagonism or synergism between papaya ringspot virus and papaya mosaic virus in Carica papaya is determined by their order of infection.

    PubMed

    Chávez-Calvillo, Gabriela; Contreras-Paredes, Carlos A; Mora-Macias, Javier; Noa-Carrazana, Juan C; Serrano-Rubio, Angélica A; Dinkova, Tzvetanka D; Carrillo-Tripp, Mauricio; Silva-Rosales, Laura

    2016-02-01

    Antagonism between unrelated plant viruses has not been thoroughly described. Our studies show that two unrelated viruses, papaya ringspot virus (PRSV) and papaya mosaic virus (PapMV) produce different symptomatic outcomes during mixed infection depending on the inoculation order. Synergism occurs in plants infected first with PRSV or in plants infected simultaneously with PRSV and PapMV, and antagonism occurs in plants infected first with PapMV and later inoculated with PRSV. During antagonism, elevated pathogenesis-related (PR-1) gene expression and increased reactive oxygen species production indicated the establishment of a host defense resulting in the reduction in PRSV titers. Polyribosomal fractioning showed that PRSV affects translation of cellular eEF1α, PR-1, β-tubulin, and PapMV RNAs in planta, suggesting that its infection could be related to an imbalance in the translation machinery. Our data suggest that primary PapMV infection activates a defense response against PRSV and establishes a protective relationship with the papaya host. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.

    PubMed

    Liu, Shiming; Su, Zhaobing; Tan, Sainan; Ni, Bin; Pan, Hong; Liu, Beihong; Wang, Jing; Xiao, Jianmin; Chen, Qiuhong

    2017-08-01

    CITED2 gene is an important cardiac transcription factor that plays a fundamental role in the formation and development of embryonic cardiovascular. Previous studies have showed that knock-out of CITED2 in mice might result in various cardiac malformations. However, the mechanisms of CITED2 mutation on congenital heart disease (CHD) in Chinese Tibetan population are still poorly understood. In the present study, 187 unrelated Tibetan patients with CHD and 200 unrelated Tibetan healthy controls were screened for variants in the CITED2 gene; we subsequently identified one potential disease-causing mutation p.G143A in a 6-year-old girl with PDA and functional analyses of the mutation were carried out. Our study showed that the novel mutation of CITED2 significantly enhanced the expression activity of vascular endothelial growth factor (VEGF) under the role of co-receptor hypoxia inducible factor 1-aipha (HIF-1A), which is closely related with embryonic cardiac development. As a result, CITED2 gene mutation may play a significant role in the development of pediatric congenital heart disease.

  19. Vividness of visual imagery and incidental recall of verbal cues, when phenomenological availability reflects long-term memory accessibility.

    PubMed

    D'Angiulli, Amedeo; Runge, Matthew; Faulkner, Andrew; Zakizadeh, Jila; Chan, Aldrich; Morcos, Selvana

    2013-01-01

    The relationship between vivid visual mental images and unexpected recall (incidental recall) was replicated, refined, and extended. In Experiment 1, participants were asked to generate mental images from imagery-evoking verbal cues (controlled on several verbal properties) and then, on a trial-by-trial basis, rate the vividness of their images; 30 min later, participants were surprised with a task requiring free recall of the cues. Higher vividness ratings predicted better incidental recall of the cues than individual differences (whose effect was modest). Distributional analysis of image latencies through ex-Gaussian modeling showed an inverse relation between vividness and latency. However, recall was unrelated to image latency. The follow-up Experiment 2 showed that the processes underlying trial-by-trial vividness ratings are unrelated to the Vividness of Visual Imagery Questionnaire (VVIQ), as further supported by a meta-analysis of a randomly selected sample of relevant literature. The present findings suggest that vividness may act as an index of availability of long-term sensory traces, playing a non-epiphenomenal role in facilitating the access of those memories.

  20. Vividness of Visual Imagery and Incidental Recall of Verbal Cues, When Phenomenological Availability Reflects Long-Term Memory Accessibility

    PubMed Central

    D’Angiulli, Amedeo; Runge, Matthew; Faulkner, Andrew; Zakizadeh, Jila; Chan, Aldrich; Morcos, Selvana

    2013-01-01

    The relationship between vivid visual mental images and unexpected recall (incidental recall) was replicated, refined, and extended. In Experiment 1, participants were asked to generate mental images from imagery-evoking verbal cues (controlled on several verbal properties) and then, on a trial-by-trial basis, rate the vividness of their images; 30 min later, participants were surprised with a task requiring free recall of the cues. Higher vividness ratings predicted better incidental recall of the cues than individual differences (whose effect was modest). Distributional analysis of image latencies through ex-Gaussian modeling showed an inverse relation between vividness and latency. However, recall was unrelated to image latency. The follow-up Experiment 2 showed that the processes underlying trial-by-trial vividness ratings are unrelated to the Vividness of Visual Imagery Questionnaire (VVIQ), as further supported by a meta-analysis of a randomly selected sample of relevant literature. The present findings suggest that vividness may act as an index of availability of long-term sensory traces, playing a non-epiphenomenal role in facilitating the access of those memories. PMID:23382719

  1. Friends and family: A software program for identification of unrelated individuals from molecular marker data.

    PubMed

    de Jager, Deon; Swarts, Petrus; Harper, Cindy; Bloomer, Paulette

    2017-11-01

    The identification of related and unrelated individuals from molecular marker data is often difficult, particularly when no pedigree information is available and the data set is large. High levels of relatedness or inbreeding can influence genotype frequencies and thus genetic marker evaluation, as well as the accurate inference of hidden genetic structure. Identification of related and unrelated individuals is also important in breeding programmes, to inform decisions about breeding pairs and translocations. We present Friends and Family, a Windows executable program with a graphical user interface that identifies unrelated individuals from a pairwise relatedness matrix or table generated in programs such as coancestry and genalex. Friends and Family outputs a list of samples that are all unrelated to each other, based on a user-defined relatedness cut-off value. This unrelated data set can be used in downstream analyses, such as marker evaluation or inference of genetic structure. The results can be compared to that of the full data set to determine the effect related individuals have on the analyses. We demonstrate one of the applications of the program: how the removal of related individuals altered the Hardy-Weinberg equilibrium test outcome for microsatellite markers in an empirical data set. Friends and Family can be obtained from https://github.com/DeondeJager/Friends-and-Family. © 2017 John Wiley & Sons Ltd.

  2. Teaching methodologies to promote creativity in the professional skills related to optics knowledge

    NASA Astrophysics Data System (ADS)

    Fernández-Oliveras, Alicia; Fernandez, Paz; Peña-García, Antonio; Oliveras, Maria L.

    2014-07-01

    We present the methodologies proposed and applied in the context of a teaching-innovation project developed at the University of Granada, Spain. The main objective of the project is the implementation of teaching methodologies that promote the creativity in the learning process and, subsequently, in the acquisition of professional skills. This project involves two subjects related with optics knowledge in undergraduate students. The subjects are "Illumination Engineering" (Bachelor's degree in Civil-Engineering) and "Optical and Optometric Instrumentation" (Bachelor's degree in and Optics and Optometry). For the first subject, the activities of our project were carried out in the theoretical classes. By contrast, in the case of the second subject, such activities were designed for the laboratory sessions. For "Illumination Engineering" we applied the maieutic technique. With this method the students were encouraged to establish relationships between the main applications of the subject and concepts that apparently unrelated with the subject framework. By means of several examples, the students became aware of the importance of cross-curricular and lateral thinking. We used the technique based on protocols of control and change in "Optical and Optometric Instrumentation". The modus operandi was focused on prompting the students to adopt the role of the professionals and to pose questions to themselves concerning the practical content of the subject from that professional role. This mechanism boosted the critical capacity and the independent-learning ability of the students. In this work, we describe in detail both subject proposals and the results of their application in the 2011-2012 academic course.

  3. Happy Family Kitchen II: a cluster randomized controlled trial of a community-based positive psychology family intervention for subjective happiness and health-related quality of life in Hong Kong.

    PubMed

    Ho, Henry C Y; Mui, Moses; Wan, Alice; Ng, Yin-Lam; Stewart, Sunita M; Yew, Carol; Lam, Tai Hing; Chan, Sophia S

    2016-07-29

    Most positive psychology interventions conducted in the West have been focused on the individual. Family relationships are highly valued in the Chinese collectivist culture, and it is of interest to know whether family-focused interventions can improve the well-being of Chinese people. We have previously reported the effectiveness of a positive psychology family intervention in terms of family well-being. Based on the data derived from the Happy Family Kitchen II project, this paper examines the effectiveness of a community-based positive psychology family intervention on subjective happiness and health-related quality of life. Thirty-one social service units and schools organized intervention programs for 2070 participants in Hong Kong. In a cluster randomized controlled trial, participants were randomly assigned on the basis of computer-generated numbers into the intervention group or the control group. The intervention programs emphasized one of five positive psychology themes: joy, gratitude, flow, savoring, and listening. The control group engaged in activities unrelated to the intervention, such as arts and crafts workshops. Subjective happiness and mental and physical quality of life were assessed at baseline and at 4 weeks and 12 weeks postintervention. Data of 1261 participants were analyzed. The results showed that the intervention was more effective than the control condition in improving subjective happiness, with a small effect size, at 12 weeks postintervention (β = .15, p = .020, Cohen's d = .16). However, there were no improvements in mental and physical quality of life in the intervention group compared with the control group at 4 weeks (β = .39, p = .494, d = .05; β = -.10, p = 1.000, d = -.01, respectively) and 12 weeks postintervention (β = .71, p = .233, d = .08; β = -.05, p = 1.000, d = -.01, respectively). Furthermore, the booster session was no more effective than the tea gathering session in improving subjective happiness (β = .00, p = .990, d = .00) or mental (β = 1.20, p = 1.000, d = -.04) and physical quality of life (β = .15, p = 1.000, d = -.01). The analyses extend previous findings of salutary effects on family well-being by showing that positive psychology family interventions can improve subjective happiness. Suggestions for future research are proposed. ClinicalTrials.gov NCT01796275 . Retrospectively registered 19 February 2013.

  4. In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels.

    PubMed

    Purtell, Louise; Sze, Lisa; Loughnan, Georgina; Smith, Ellie; Herzog, Herbert; Sainsbury, Amanda; Steinbeck, Katharine; Campbell, Lesley V; Viardot, Alexander

    2011-08-01

    Prader-Willi syndrome (PWS) is a leading genetic cause of obesity, characterized by hyperphagia, endocrine and developmental disorders. It is suggested that the intense hyperphagia could stem, in part, from impaired gut hormone signaling. Previous studies produced conflicting results, being confounded by differences in body composition between PWS and control subjects. Fasting and postprandial gut hormone responses were investigated in a cross-sectional cohort study including 10 adult PWS, 12 obese subjects matched for percentage body fat and central abdominal fat, and 10 healthy normal weight subjects. PYY[total], PYY[3-36], GLP-1[active] and ghrelin[total] were measured by ELISA or radioimmunoassay. Body composition was assessed by dual energy X-ray absorptiometry. Visual analog scales were used to assess hunger and satiety. In contrast to lean subjects (p<0.05), PWS and obese subjects were similarly insulin resistant and had similar insulin levels. Ghrelin[total] levels were significantly higher in PWS compared to obese subjects before and during the meal (p<0.05). PYY[3-36] meal responses were higher in PWS than in lean subjects (p=0.01), but not significantly different to obese (p=0.08), with an additional non-significant trend in PYY[total] levels. There were no significant differences in self-reported satiety between groups, however PWS subjects reported more hunger throughout (p=0.003), and exhibited a markedly reduced meal-induced suppression of hunger (p=0.01) compared to lean or obese subjects. Compared to adiposity-matched control subjects, hyperphagia in PWS is not related to a lower postprandial GLP-1 or PYY response. Elevated ghrelin levels in PWS are consistent with increased hunger and are unrelated to insulin levels. Copyright © 2011 Elsevier Ltd. All rights reserved.

  5. Incidence trends of human papillomavirus-related head and neck cancer in Taiwan, 1995-2009.

    PubMed

    Hwang, Tzer-Zen; Hsiao, Jenn-Ren; Tsai, Chia-Rung; Chang, Jeffrey S

    2015-07-15

    Recent studies suggested that human papillomavirus (HPV) is an emerging risk factor of head and neck cancer (HNC), particularly for oropharyngeal cancer. Studies from the West showed a rising trend of HPV-related HNC despite a decrease of the overall HNC incidence. In contrast, the overall HNC incidence in Taiwan has continued to rise. It is not clear whether the incidence trends of HPV-related HNC in Taiwan have a similar pattern to those from countries with an overall decreasing incidence of HNC. This study examined the incidence trends of HPV-related and HPV-unrelated HNC in Taiwan using data from the Taiwan Cancer Registry. Our results showed that the incidence trends of HPV-related and HPV-unrelated HNC in Taiwan both rose during 1995-2009. The incidence of HPV-related HNC (1.3 per 100,000 in 1995 to 3.3 in 2009, annual percentage change (APC) = 6.9, p < 0.0001) rose more rapidly than the incidence of HPV-unrelated HNC (10.4 per 100,000 in 1995 to 21.7 in 2009, APC = 5.0, p < 0.0001). The rising trend of HPV-related HNC was particularly prominent for HNC occurring in tonsil (APC = 8.2, p < 0.0001), in men (APC = 7.5, p < 0.0001), and in those aged between 40 and 50 years (APC = 8.5, p < 0.0001). Although the overall incidence of HNC in Taiwan has continued to increase, the most rapid rise is in the HPV-related HNC. This suggests that similar to the Western world, HPV-related HNC is becoming an important public health issue in Taiwan. © 2014 UICC.

  6. Electrophysiological correlates of cross-linguistic semantic integration in hearing signers: N400 and LPC.

    PubMed

    Zachau, Swantje; Korpilahti, Pirjo; Hämäläinen, Jarmo A; Ervast, Leena; Heinänen, Kaisu; Suominen, Kalervo; Lehtihalmes, Matti; Leppänen, Paavo H T

    2014-07-01

    We explored semantic integration mechanisms in native and non-native hearing users of sign language and non-signing controls. Event-related brain potentials (ERPs) were recorded while participants performed a semantic decision task for priming lexeme pairs. Pairs were presented either within speech or across speech and sign language. Target-related ERP responses were subjected to principal component analyses (PCA), and neurocognitive basis of semantic integration processes were assessed by analyzing the N400 and the late positive complex (LPC) components in response to spoken (auditory) and signed (visual) antonymic and unrelated targets. Semantically-related effects triggered across modalities would indicate a similar tight interconnection between the signers׳ two languages like that described for spoken language bilinguals. Remarkable structural similarity of the N400 and LPC components with varying group differences between the spoken and signed targets were found. The LPC was the dominant response. The controls׳ LPC differed from the LPC of the two signing groups. It was reduced to the auditory unrelated targets and was less frontal for all the visual targets. The visual LPC was more broadly distributed in native than non-native signers and was left-lateralized for the unrelated targets in the native hearing signers only. Semantic priming effects were found for the auditory N400 in all groups, but only native hearing signers revealed a clear N400 effect to the visual targets. Surprisingly, the non-native signers revealed no semantically-related processing effect to the visual targets reflected in the N400 or the LPC; instead they appeared to rely more on visual post-lexical analyzing stages than native signers. We conclude that native and non-native signers employed different processing strategies to integrate signed and spoken semantic content. It appeared that the signers׳ semantic processing system was affected by group-specific factors like language background and/or usage. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Speech, stone tool-making and the evolution of language.

    PubMed

    Cataldo, Dana Michelle; Migliano, Andrea Bamberg; Vinicius, Lucio

    2018-01-01

    The 'technological hypothesis' proposes that gestural language evolved in early hominins to enable the cultural transmission of stone tool-making skills, with speech appearing later in response to the complex lithic industries of more recent hominins. However, no flintknapping study has assessed the efficiency of speech alone (unassisted by gesture) as a tool-making transmission aid. Here we show that subjects instructed by speech alone underperform in stone tool-making experiments in comparison to subjects instructed through either gesture alone or 'full language' (gesture plus speech), and also report lower satisfaction with their received instruction. The results provide evidence that gesture was likely to be selected over speech as a teaching aid in the earliest hominin tool-makers; that speech could not have replaced gesturing as a tool-making teaching aid in later hominins, possibly explaining the functional retention of gesturing in the full language of modern humans; and that speech may have evolved for reasons unrelated to tool-making. We conclude that speech is unlikely to have evolved as tool-making teaching aid superior to gesture, as claimed by the technological hypothesis, and therefore alternative views should be considered. For example, gestural language may have evolved to enable tool-making in earlier hominins, while speech may have later emerged as a response to increased trade and more complex inter- and intra-group interactions in Middle Pleistocene ancestors of Neanderthals and Homo sapiens; or gesture and speech may have evolved in parallel rather than in sequence.

  8. Human Cortical θ during Free Exploration Encodes Space and Predicts Subsequent Memory

    PubMed Central

    Snider, Joseph; Plank, Markus; Lynch, Gary; Halgren, Eric

    2013-01-01

    Spatial representations and walking speed in rodents are consistently related to the phase, frequency, and/or amplitude of θ rhythms in hippocampal local field potentials. However, neuropsychological studies in humans have emphasized the importance of parietal cortex for spatial navigation, and efforts to identify the electrophysiological signs of spatial navigation in humans have been stymied by the difficulty of recording during free exploration of complex environments. We resolved the recording problem and experimentally probed brain activity of human participants who were fully ambulant. On each of 2 d, electroencephalography was synchronized with head and body movement in 13 subjects freely navigating an extended virtual environment containing numerous unique objects. θ phase and amplitude recorded over parietal cortex were consistent when subjects walked through a particular spatial separation at widely separated times. This spatial displacement θ autocorrelation (STAcc) was quantified and found to be significant from 2 to 8 Hz within the environment. Similar autocorrelation analyses performed on an electrooculographic channel, used to measure eye movements, showed no significant spatial autocorrelations, ruling out eye movements as the source of STAcc. Strikingly, the strength of an individual's STAcc maps from day 1 significantly predicted object location recall success on day 2. θ was also significantly correlated with walking speed; however, this correlation appeared unrelated to STAcc and did not predict memory performance. This is the first demonstration of memory-related, spatial maps in humans generated during active spatial exploration. PMID:24048836

  9. Afraid to be there? Evaluating the relation between presence, self-reported anxiety, and heart rate in a virtual public speaking task.

    PubMed

    Felnhofer, Anna; Kothgassner, Oswald D; Hetterle, Thomas; Beutl, Leon; Hlavacs, Helmut; Kryspin-Exner, Ilse

    2014-05-01

    The link between anxiety and presence in a virtual environment (VE) is still a subject of an unresolved debate, with little empirical research to support theoretical claims. Thus, the current study analyzed presence, self-reported anxiety, and a physiological parameter (heart rate [HR]) in a sample of 30 high anxious and 35 low anxious participants. Both groups delivered a 5 minute speech in a virtual lecture hall. Results indicate no mediating influences of presence on group differences in self-reported state anxiety during the speech, but point toward negative correlations between state anxiety and the iGroup Presence Questionnaire (IPQ) scales "sense of being there" and "realism." Furthermore, HR was found to be unrelated to self-reported presence. Only the IPQ scale "spatial presence" showed a marginally significant influence on group differences in state anxiety. The present results support the assumption that presence and anxiety are logically distinct, meaning that presence does not directly influence the intensity of an emotion felt in a VE. Rather, it constitutes a precondition for an emotion to be at all elicited by a VE. Also, HR has proven to be no adequate substitute measure for presence, since it only assesses anxiety not presence. It may, however, mediate the interplay between trait anxiety and state anxiety. Possible implications of the current findings are discussed alongside the problem of using presence questionnaires that seem to be prone to subjective bias (i.e., participants confusing presence and emotion).

  10. Rating the severity and character of transient cocaine-induced delusions and hallucinations with a new instrument, the Scale for Assessment of Positive Symptoms for Cocaine-Induced Psychosis (SAPS-CIP).

    PubMed

    Cubells, Joseph F; Feinn, Richard; Pearson, Deborah; Burda, Jeffrey; Tang, Yilang; Farrer, Lindsay A; Gelernter, Joel; Kranzler, Henry R

    2005-10-01

    Cocaine can induce transient psychotic symptoms. We examined the phenomenology of such cocaine-induced psychosis (CIP) using a modified version of the Scale for Assessment of Positive Symptoms (SAPS), a well-validated instrument for the assessment of schizophrenic psychosis. We developed a new instrument, the Scale for Assessment of Positive Symptoms for Cocaine-Induced Psychosis (SAPS-CIP), based on the well-validated SAPS. We interviewed 243 unrelated cocaine-dependent adults using both the SAPS-CIP and an instrument for the identification of cocaine-induced paranoia, the Cocaine Experience Questionnaire (CEQ). One hundred and eighty-one (75%) of the subjects endorsed CIP using the CEQ. With the SAPS-CIP, hallucination (HAL) and delusion (DEL) scores correlated strongly, and the DEL domain showed excellent concurrent validity with the CEQ. We observed significant positive correlations, respectively, between severity of HAL and DEL, and lifetime number of episodes of cocaine use, and negative correlations with age at onset of cocaine use. The results suggest that CIP consists of transient delusional and hallucinatory symptoms, which tend to occur together and co-vary in severity. It appears that rating cocaine-induced paranoia alone (e.g., with the CEQ) can identify most subjects experiencing CIP. However, the SAPS-CIP is useful for quantifying the severity of CIP according to operational criteria. Our data provide additional evidence that CIP is a sensitizing response.

  11. Nearwork-induced transient myopia in preadolescent Hong Kong Chinese.

    PubMed

    Wolffsohn, James Stuart; Gilmartin, Bernard; Li, Roger Wing-hong; Edwards, Marion Hastings; Chat, Sandy Wing-shan; Lew, John Kwok-fai; Yu, Bibianna Sin-ying

    2003-05-01

    To compare the magnitude and time course of nearwork-induced transient myopia (NITM) in preadolescent Hong Kong Chinese myopes and emmetropes. Forty-five Hong Kong Chinese children, 35 myopes and 10 emmetropes aged 6 to 12 years (median, 7.5), monocularly viewed a letter target through a Badal lens for 5 minutes at either 5.00- or 2.50-D accommodative demand, followed by 3 minutes of viewing the equivalent target at optical infinity. Accommodative responses were measured continuously with a modified, infrared, objective open-field autorefractor. Accommodative responses were also measured for a countercondition: viewing of a letter target for 5 minutes at optical infinity, followed by 3 minutes of viewing the target at a 5.00-D accommodative demand. The results were compared with tonic accommodation and both subject and family history of refractive error. Retinal-blur-driven NITM was significantly greater in Hong Kong Chinese children with myopic vision than in the emmetropes after both near tasks, but showed no significant dose effect. The NITM was still evident 3 minutes after viewing the 5.00-D near task for 5 minutes. The magnitude of NITM correlated with the accommodative drift after viewing a distant target for more than 4 minutes, but was unrelated to the subjects' or family history of refractive error. In a preadolescent ethnic population with known predisposition to myopia, there is a significant posttask blur-driven accommodative NITM, which is sustained for longer than has previously been found in white adults.

  12. Delineating potential mechanisms of implicit alcohol cognitions: drinking restraint, negative affect, and their relationship with approach alcohol associations.

    PubMed

    Cohn, Amy M; Cameron, Amy Y; Udo, Tomoko; Hagman, Brett T; Mitchell, Jessica; Bramm, Stephanie; Ehlke, Sarah

    2012-06-01

    Problem drinkers may use alcohol to avoid negative mood states and may develop implicit cognitive associations between negative emotional states and reinforcing properties of drinking. It is paradoxical that attempts to control drinking, such as among those high in drinking restraint, may inadvertently increase desire to drink and subsequent alcohol consumption, and this may be exaggerated under times of emotional distress when urges to drink are high. We examined whether individuals who are high on drinking restraint would demonstrate stronger alcohol-related thoughts elicited by stimuli that represent the desire to use alcohol, in response to stronger versus weaker negative mood arousal. Seventy hazardous drinkers completed measurements of drinking restraint, alcohol consumption, and consequences of use. After being randomized to view negative or positive pictures sets, participants completed an Implicit Association Task (IAT) to test differences in the strength of the association between desire to approach or avoid alcohol or water cues, and then a measurement of subjective craving following the IAT. Regression analyses showed that trait restriction not temptation was positively related to IAT scores, after controlling for relevant covariates and explained 7% of the total variance. Trait temptation not IAT predicted subjective craving. Negative affect was unrelated to IAT scores, singly or in conjunction with measures of drinking restraint, contrary to predictions. In sum, implicit alcohol cognitions are related to attempts to restrict drinking not temptation to drink and are less strongly influenced by mood state.

  13. Human cortical θ during free exploration encodes space and predicts subsequent memory.

    PubMed

    Snider, Joseph; Plank, Markus; Lynch, Gary; Halgren, Eric; Poizner, Howard

    2013-09-18

    Spatial representations and walking speed in rodents are consistently related to the phase, frequency, and/or amplitude of θ rhythms in hippocampal local field potentials. However, neuropsychological studies in humans have emphasized the importance of parietal cortex for spatial navigation, and efforts to identify the electrophysiological signs of spatial navigation in humans have been stymied by the difficulty of recording during free exploration of complex environments. We resolved the recording problem and experimentally probed brain activity of human participants who were fully ambulant. On each of 2 d, electroencephalography was synchronized with head and body movement in 13 subjects freely navigating an extended virtual environment containing numerous unique objects. θ phase and amplitude recorded over parietal cortex were consistent when subjects walked through a particular spatial separation at widely separated times. This spatial displacement θ autocorrelation (STAcc) was quantified and found to be significant from 2 to 8 Hz within the environment. Similar autocorrelation analyses performed on an electrooculographic channel, used to measure eye movements, showed no significant spatial autocorrelations, ruling out eye movements as the source of STAcc. Strikingly, the strength of an individual's STAcc maps from day 1 significantly predicted object location recall success on day 2. θ was also significantly correlated with walking speed; however, this correlation appeared unrelated to STAcc and did not predict memory performance. This is the first demonstration of memory-related, spatial maps in humans generated during active spatial exploration.

  14. Quality of life of nursing-home residents with dementia subject to surveillance technology versus physical restraints: an explorative study.

    PubMed

    Te Boekhorst, S; Depla, M F I A; Francke, A L; Twisk, J W R; Zwijsen, S A; Hertogh, C M P M

    2013-04-01

    As physical restraints should only be used in exceptional cases, there is an urgent need for alternatives to restraint use. Surveillance technology could be such an alternative. This study explored whether nursing-home residents with dementia subjected to surveillance technology had better quality of life scores for mood, behavioral and societal dimensions than residents with physical restraints. Quality of life was assessed longitudinally, with three measurements in six psychogeriatric nursing homes of residents with surveillance technology (n = 170) and residents with physical restraints (n = 22). QUALIDEM subscales were used to measure five dimensions of quality of life. Multilevel longitudinal univariate and multivariate regression techniques were used to analyze the data. Because physical restraints were almost exclusively used in residents with low activities of daily living (ADL) independency (18 of the 22), we restricted the regression analyses to residents with a Barthel Index score ≤ 5 (overall n = 53). Univariate results showed that highly ADL-dependent residents with surveillance technology had significantly more positive affect than highly ADL-dependent residents with physical restraints. However, this difference proved to be no longer significant after adjustment for the confounders: age, sex and stage of dementia. Quality of life of highly ADL-dependent nursing-home residents with dementia seems to be unrelated to the use of surveillance technology as opposed to physical restraints. Copyright © 2012 John Wiley & Sons, Ltd.

  15. Relationship between macular pigment and visual function in subjects with early age-related macular degeneration.

    PubMed

    Akuffo, Kwadwo Owusu; Nolan, John M; Peto, Tunde; Stack, Jim; Leung, Irene; Corcoran, Laura; Beatty, Stephen

    2017-02-01

    To investigate the relationship between macular pigment (MP) and visual function in subjects with early age-related macular degeneration (AMD). 121 subjects with early AMD enrolled as part of the Central Retinal Enrichment Supplementation Trial (CREST; ISRCTN13894787) were assessed using a range of psychophysical measures of visual function, including best corrected visual acuity (BCVA), letter contrast sensitivity (CS), mesopic and photopic CS, mesopic and photopic glare disability (GD), photostress recovery time (PRT), reading performance and subjective visual function, using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). MP was measured using customised heterochromatic flicker photometry. Letter CS, mesopic and photopic CS, photopic GD and mean reading speed were each significantly (p<0.05) associated with MP across a range of retinal eccentricities, and these statistically significant relationships persisted after controlling for age, sex and cataract grade. BCVA, NEI VFQ-25 score, PRT and mesopic GD were unrelated to MP after controlling for age, sex and cataract grade (p>0.05, for all). MP relates positively to many measures of visual function in unsupplemented subjects with early AMD. The CREST trial will investigate whether enrichment of MP influences visual function among those afflicted with this condition. ISRCTN13894787. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  16. Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration.

    PubMed

    Gotoh, Norimoto; Kuroiwa, Sachiko; Kikuchi, Takanobu; Arai, Jun; Arai, Satoko; Yoshida, Noriko; Yoshimura, Nagahisa

    2004-10-01

    To study the genotypes, allelic frequencies, and polymorphisms of apolipoprotein E (Apo E) in unrelated Japanese patients with polypoidal choroidal vasculopathy (PCV) or exudative age-related macular degeneration (AMD) and control subjects without macular degeneration. Cross-sectional study. Blood samples from 225 subjects older than 50 years were used. The 225 subjects included 58 patients with PCV, 85 with AMD, and 82 without macular degeneration. Coding exons of the Apo E gene were amplified by polymerase chain reaction, and the DNA sequences were determined by direct sequencing with an automated sequencer. Apo E epsilon3/epsilon3 was the most frequent genotype with a prevalence of 79.3% in PCV patients, 76.5% in AMD patients, and 67.1% in the control subjects. However, the differences in the percentages were not statistically significant among the three groups. The most frequently found allele in the three groups was epsilon3. Patients with PCV and AMD were less likely to have epsilon2 and epsilon4 than the control subjects, but the differences were not statistically significant. Five minor Apo E single nucleotide polymorphisms, including epsilon5 and epsilon7, were found. Japanese patients with PCV and AMD were less likely to have epsilon2 and epsilon4 polymorphisms, but the differences from the normals were not statistically significant for the Apo E genotypes and allelic frequencies.

  17. Antimnemonic effects of schemas in young and older adults

    PubMed Central

    Badham, Stephen P.; Maylor, Elizabeth A.

    2016-01-01

    Schema-consistent material that is aligned with an individual’s knowledge and experience is typically more memorable than abstract material. This effect is often more extreme in older adults and schema use can alleviate age deficits in memory. In three experiments, young and older adults completed memory tasks where the availability of schematic information was manipulated. Specifying nonobvious relations between to-be-remembered word pairs paradoxically hindered memory (Experiment 1). Highlighting relations within mixed lists of related and unrelated word pairs had no effect on memory for those pairs (Experiment 2). This occurred even though related word pairs were recalled better than unrelated word pairs, particularly for older adults. Revealing a schematic context in a memory task with abstract image segments also hindered memory performance, particularly for older adults (Experiment 3). The data show that processing schematic information can come with costs that offset mnemonic benefits associated with schema-consistent stimuli. PMID:25980799

  18. The Relationship between Neighborhood Characteristics and Effective Parenting Behaviors: The Role of Social Support.

    PubMed

    Byrnes, Hilary F; Miller, Brenda A

    2012-12-01

    Neighborhood characteristics have been linked to healthy behavior, including effective parenting behaviors. This may be partially explained through the neighborhood's relation to parents' access to social support from friends and family. The current study examined associations of neighborhood characteristics with parenting behaviors indirectly through social support. The sample included 614 mothers of 11-12 year old youths enrolled in a health care system in the San Francisco area. Structural equations modeling shows that neighborhood perceptions were related to parenting behaviors, indirectly through social support, while archival census neighborhood indicators were unrelated to social support and parenting. Perceived neighborhood social cohesion and control were related to greater social support, which was related to more effective parenting style, parent-child communication, and monitoring. Perceived neighborhood disorganization was unrelated to social support. Prevention strategies should focus on helping parents build a social support network that can act as a resource in times of need.

  19. Stress-Induced Out-of-Context Activation of Memory

    PubMed Central

    Ježek, Karel; Lee, Benjamin B.; Kelemen, Eduard; McCarthy, Katharine M.; McEwen, Bruce S.; Fenton, André A.

    2010-01-01

    Inappropriate recollections and responses in stressful conditions are hallmarks of post-traumatic stress disorder and other anxiety and mood disorders, but how stress contributes to the disorders is unclear. Here we show that stress itself reactivates memories even if the memory is unrelated to the stressful experience. Forced-swim stress one day after learning enhanced memory recall. One-day post-learning amnestic treatments were ineffective unless administered soon after the swim, indicating that a stressful experience itself can reactivate unrelated consolidated memories. The swim also triggered inter-hemispheric transfer of a lateralized memory, confirming stress reactivates stable memories. These novel effects of stress on memory required the hippocampus although the memories themselves did not, indicating hippocampus-dependent modulation of extrahippocampal memories. These findings that a stressful experience itself can activate memory suggest the novel hypothesis that traumatic stress reactivates pre-trauma memories, linking them to memory for the trauma and pathological facilitation of post-traumatic recall. PMID:21203585

  20. Embodied effects of conceptual knowledge continuously perturb the hand in flight.

    PubMed

    Till, Bernie C; Masson, Michael E J; Bub, Daniel N; Driessen, Peter F

    2014-08-01

    Attending to a manipulable object evokes a mental representation of hand actions associated with the object's form and function. In one view, these representations are sufficiently abstract that their competing influence on an unrelated action is confined to the planning stages of movement and does not affect its on-line control. Alternatively, an object may evoke action representations that affect the entire trajectory of an unrelated grasping action. We developed a new methodology to statistically analyze the forward motion and rotation of the hand and fingers under different task conditions. Using this novel approach, we established that a grasping action executed after seeing a photograph of an object is systematically perturbed even into the late stages of its trajectory by the competing influence of the grasping posture associated with the object. Our results show that embodied effects of conceptual knowledge continuously modulate the hand in flight. © The Author(s) 2014.

  1. Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

    PubMed

    Isashiki, Y; Ohba, N; Yanagita, T; Hokita, N; Doi, N; Nakagawa, M; Ozawa, M; Kuroda, N

    1995-01-01

    We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment. A mutation was found in both patients at the initiation codon of exon 2 of the ND gene (ATG to GTG), with otherwise normal nucleotide sequences. Their mothers had the normal and mutant types of the gene, which was expected for heterozygotes of the disease. The mutation of the initiation codon would cause the failure of ND gene expression or a defect in translation thereby truncating the amino terminus of ND protein. In view of the rarity and marked heterogeneity of mutations in the ND gene, the present apparently unrelated Japanese families who have lived in the same area for over two centuries presumably share the origin of the mutation.

  2. Co-residence patterns in hunter-gatherer societies show unique human social structure.

    PubMed

    Hill, Kim R; Walker, Robert S; Bozicević, Miran; Eder, James; Headland, Thomas; Hewlett, Barry; Hurtado, A Magdalena; Marlowe, Frank; Wiessner, Polly; Wood, Brian

    2011-03-11

    Contemporary humans exhibit spectacular biological success derived from cumulative culture and cooperation. The origins of these traits may be related to our ancestral group structure. Because humans lived as foragers for 95% of our species' history, we analyzed co-residence patterns among 32 present-day foraging societies (total n = 5067 individuals, mean experienced band size = 28.2 adults). We found that hunter-gatherers display a unique social structure where (i) either sex may disperse or remain in their natal group, (ii) adult brothers and sisters often co-reside, and (iii) most individuals in residential groups are genetically unrelated. These patterns produce large interaction networks of unrelated adults and suggest that inclusive fitness cannot explain extensive cooperation in hunter-gatherer bands. However, large social networks may help to explain why humans evolved capacities for social learning that resulted in cumulative culture.

  3. After the fall of the Berlin Wall: perceptions and consequences of stability and change among middle-aged and older East and West Germans.

    PubMed

    Westerhof, Gerben J; Keyes, Corey L M

    2006-09-01

    This study empirically tested the self-systems theory of subjective change in light of the rapid change after the fall of the Berlin Wall. The theory predicts that individuals have a tendency to perceive stability and that perceived stability exerts a strong positive effect on subjective well-being. We would expect perceptions of decline and, to a lesser extent, perceptions of improvement to be related to lower levels of subjective well-being. Data were from respondents aged 40-85 years who participated in the German Aging Survey. We used measures of well-being and temporal comparisons during the past 10 years (1986-1996). West Germans reported more stability than East Germans, in particular in the public domain and in older age groups. Compared with perceptions of stability, perceptions of decline were related to less life satisfaction and more negative affect, and perceptions of growth to more negative affect. Temporal comparisons were unrelated to positive affect. Our findings both confirm and reject the self-systems theory of subjective change as it relates to the fall of the Berlin Wall. Studying temporal comparisons is important in understanding the effects of historical events and their timing within an individual life course.

  4. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

    PubMed

    Chanprasert, Sirisak; Wang, Jing; Weng, Shao-Wen; Enns, Gregory M; Boué, Daniel R; Wong, Brenda L; Mendell, Jerry R; Perry, Deborah A; Sahenk, Zarife; Craigen, William J; Alcala, Francisco J Climent; Pascual, Juan M; Melancon, Serge; Zhang, Victor Wei; Scaglia, Fernando; Wong, Lee-Jun C

    2013-01-01

    Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of mitochondrial cytopathies characterized by severe mtDNA copy number reduction in affected tissues. Clinically, MDSs are mainly categorized as myopathic, encephalomyopathic, hepatocerebral, or multi-systemic forms. To date, the myopathic form of MDS is mainly caused by mutations in the TK2 gene, which encodes thymidine kinase 2, the first and rate limiting step enzyme in the phosphorylation of pyrimidine nucleosides. We analyzed 9 unrelated families with 11 affected subjects exhibiting the myopathic form of MDS, by sequencing the TK2 gene. Twelve mutations including 4 novel mutations were detected in 9 families. Skeletal muscle specimens were available from 7 out of 11 subjects. Respiratory chain enzymatic activities in skeletal muscle were measured in 6 subjects, and enzymatic activities were reduced in 3 subjects. Quantitative analysis of mtDNA content in skeletal muscle was performed in 5 subjects, and marked mtDNA content reduction was observed in each. In addition, we outline the molecular and clinical characteristics of this syndrome in a total of 52 patients including those previously reported, and a total of 36 TK2 mutations are summarized. Clinically, hypotonia and proximal muscle weakness are the major phenotypes present in all subjects. In summary, our study expands the molecular and clinical spectrum associated with TK2 deficiency. © 2013.

  5. Immersion in Cold-Water Evaluation (ICE) and self-reported cold intolerance are reliable but unrelated measures.

    PubMed

    Traynor, Robyn; MacDermid, Joy C

    2008-09-01

    Intolerance to the cold is common following peripheral nerve injury and surgery of the upper extremity. Despite its prevalence, the exact pathophysiology and natural history of this condition are not well understood. Subjective, self-report questionnaires have been created and validated as reliable measures of post-traumatic cold intolerance. The difficulty currently lies in assigning an objective measure to this predominantly subjective phenomenon. The present study evaluated the test-retest reliability of a proposed objective measure of cold intolerance, the Immersion in Cold-water Evaluation (ICE), and its correlation with subjective measures in healthy control subjects. Two age groups were also compared to investigate the effect of age on cold intolerance and temperature recovery. On two separate testing days, subjects completed three health-related questionnaires and submersed their dominant hands in cold water. The temperature of their second and fifth digits was monitored during recovery. Both the objective cold-provocation testing and the subjective self-report questionnaires were highly reliable albeit not significantly correlated. No significant temperature recovery trend was noted between the age groups. Post-traumatic cold intolerance is postulated to have both a vascular and neural etiology among other contributing causes. The protocol studied here was centered predominantly on the former etiology, examining peripheral blood flow and associated temperature recovery. This study established ICE as a reliable means to objectively measure cold response, supplementing information provided by previously validated self-report methods.

  6. Alterations of the arginine metabolome in asthma.

    PubMed

    Lara, Abigail; Khatri, Sumita B; Wang, Zeneng; Comhair, Suzy A A; Xu, Weiling; Dweik, Raed A; Bodine, Melanie; Levison, Bruce S; Hammel, Jeffrey; Bleecker, Eugene; Busse, William; Calhoun, William J; Castro, Mario; Chung, Kian Fan; Curran-Everett, Douglas; Gaston, Benjamin; Israel, Elliot; Jarjour, Nizar; Moore, Wendy; Peters, Stephen P; Teague, W Gerald; Wenzel, Sally; Hazen, Stanley L; Erzurum, Serpil C

    2008-10-01

    As the sole nitrogen donor in nitric oxide (NO) synthesis and key intermediate in the urea cycle, arginine and its metabolic pathways are integrally linked to cellular respiration, metabolism, and inflammation. We hypothesized that arginine (Arg) bioavailability would be associated with airflow abnormalities and inflammation in subjects with asthma, and would be informative for asthma severity. Arg bioavailability was assessed in subjects with severe and nonsevere asthma and healthy control subjects by determination of plasma Arg relative to its metabolic products, ornithine and citrulline, and relative to methylarginine inhibitors of NO synthases, and by serum arginase activity. Inflammatory parameters, including fraction of exhaled NO (Fe(NO)), IgE, skin test positivity to allergens, bronchoalveolar lavage, and blood eosinophils, were also evaluated. Subjects with asthma had greater Arg bioavailability, but also increased Arg catabolism compared with healthy control subjects, as evidenced by higher levels of Fe(NO) and serum arginase activity. However, Arg bioavailability was positively associated with Fe(NO) only in healthy control subjects; Arg bioavailability was unrelated to Fe(NO) or other inflammatory parameters in severe or nonsevere asthma. Inflammatory parameters were related to airflow obstruction and reactivity in nonsevere asthma, but not in severe asthma. Conversely, Arg bioavailability was related to airflow obstruction in severe asthma, but not in nonsevere asthma. Modeling confirmed that measures of Arg bioavailabilty predict airflow obstruction only in severe asthma. Unlike Fe(NO), Arg bioavailability is not a surrogate measure of inflammation; however, Arg bioavailability is strongly associated with airflow abnormalities in severe asthma.

  7. Forward Association, Backward Association, and the False-Memory Illusion

    ERIC Educational Resources Information Center

    Brainerd, C. J.; Wright, Ron

    2005-01-01

    In the Deese-Roediger-McDermott false-memory illusion, forward associative strength (FAS) is unrelated to the strength of the illusion; this is puzzling, because high-FAS lists ought to share more semantic features with critical unpresented words than should low-FAS lists. The authors show that this null result is probably a truncated range…

  8. Approaching Gender Equity in Academic Chemistry: Lessons Learned from Successful Female Chemists in the UK

    ERIC Educational Resources Information Center

    Miller-Friedmann, Jaimie; Childs, Ann; Hillier, Judith

    2018-01-01

    The internationally acknowledged gender gap in science continues to be an unrelenting concern to science educators; aggregate data in the UK show that both recruitment and retention of women in academic science remain relatively low. Most published research focuses on women in the broad field of science, generates correlations or predictions, or…

  9. Electromagnetic Induction with Neodymium Magnets

    ERIC Educational Resources Information Center

    Wood, Deborah; Sebranek, John

    2013-01-01

    In April 1820, Hans Christian Ørsted noticed that the needle of a nearby compass deflected briefly from magnetic north each time the electric current of the battery he was using for an unrelated experiment was turned on or off. Upon further investigation, he showed that an electric current flowing through a wire produces a magnetic field. In 1831…

  10. A feed-back regulatory loop between glycerol-3-phosphate and lipid transfer proteins DIR1 and AZI1 mediates azelaic acid-induced systemic immunity

    USDA-ARS?s Scientific Manuscript database

    Systemic acquired resistance (SAR), a highly desirable form of plant defense, provides broad-spectrum immunity against diverse pathogens. The recent identification of seemingly unrelated chemical inducers of SAR warrants an investigation of their mutual interrelationships. We show that SAR induced b...

  11. Dispersal of white spruce seed on Willow Island in interior Alaska.

    Treesearch

    Andrew Youngblood; Timothy A. Max

    1992-01-01

    The seasonal and spatial patterns of dispersal of white spruce (Picea glauca (Moench) Voss) seed were studied from 1986 to 1989 in floodplain stands along the Tanana River near Fairbanks, Alaska. Analysis of the 1987 crop showed that production of filled seed was strongly related to estimated production of total seed and unrelated to selected stand...

  12. Insufficient evidence for association of NOD2/CARD15 or other inflammatory bowel disease–associated markers on GVHD incidence or other adverse outcomes in T-replete, unrelated donor transplantation

    PubMed Central

    Nguyen, Yume; Al-Lehibi, Abed; Gorbe, Elizabeth; Li, Ellen; Haagenson, Michael; Wang, Tao; Spellman, Stephen; Lee, Stephanie J.

    2010-01-01

    Previous European studies suggest NOD2/CARD15 and interleukin-23 receptor (IL-23R) donor or recipient variants are associated with adverse clinical outcomes in allogeneic hematopoietic stem cell transplantation. We reexamined these findings as well as the role of another inflammatory bowel disease (IBD) susceptibility gene (immunity-related GTPase family, M [IRGM]) on transplantation outcomes in 390 US patients and their matched unrelated donors, accrued between 1995 and 2004. Patients received T-replete grafts with mostly myeloablative conditioning regimens. Multivariate analyses were performed for overall survival, disease-free survival, transplantation-related mortality, relapse, and acute and chronic graft-versus-host disease. Of 390 pairs, NOD2/CARD15 variant single nucleotide polymorphisms (SNPs) were found in 14% of donors and 17% of recipients. In 3% both donor and recipient had a mutant SNP. Thirteen percent of donors and 16% of recipients had variant IL23R SNPs, with 3% having both donor and recipient variants. Twenty-three percent of both donors and recipients had variant IRGM SNPs. None of the 3 IBD-associated alleles showed a statistically significant association with any adverse clinical outcomes. Our results do not support an association between the 3 IBD-associated SNPs and adverse outcomes after matched unrelated donor hematopoietic cell transplantations in US patients. PMID:20177049

  13. Immediate and Longitudinal Alterations of Functional Networks after Thalamotomy in Essential Tremor

    PubMed Central

    Jang, Changwon; Park, Hae-Jeong; Chang, Won Seok; Pae, Chongwon; Chang, Jin Woo

    2016-01-01

    Thalamotomy at the ventralis intermedius nucleus has been an effective treatment method for essential tremor, but how the brain network changes immediately responding to this deliberate lesion and then reorganizes afterwards are not clear. Taking advantage of a non-cranium-opening MRI-guided focused ultrasound ablation technique, we investigated functional network changes due to a focal lesion. To classify the diverse time courses of those network changes with respect to symptom-related long-lasting treatment effects and symptom-unrelated transient effects, we applied graph-theoretic analyses to longitudinal resting-state functional magnetic resonance imaging data before and 1 day, 7 days, and 3 months after thalamotomy with essential tremor. We found reduced average connections among the motor-related areas, reduced connectivity between substantia nigra and external globus pallidum and reduced total connection in the thalamus after thalamotomy, which are all associated with clinical rating scales. The average connectivity among whole brain regions and inter-hemispheric network asymmetry show symptom-unrelated transient increases, indicating temporary reconfiguration of the whole brain network. In summary, thalamotomy regulates interactions over the motor network via symptom-related connectivity changes but accompanies transient, symptom-unrelated diaschisis in the global brain network. This study suggests the significance of longitudinal network analysis, combined with minimal-invasive treatment techniques, in understanding time-dependent diaschisis in the brain network due to a focal lesion. PMID:27822200

  14. Kinship and Incest Avoidance Drive Patterns of Reproductive Skew in Cooperatively Breeding Birds.

    PubMed

    Riehl, Christina

    2017-12-01

    Social animals vary in how reproduction is divided among group members, ranging from monopolization by a dominant pair (high skew) to equal sharing by cobreeders (low skew). Despite many theoretical models, the ecological and life-history factors that generate this variation are still debated. Here I analyze data from 83 species of cooperatively breeding birds, finding that kinship within the breeding group is a powerful predictor of reproductive sharing across species. Societies composed of nuclear families have significantly higher skew than those that contain unrelated members, a pattern that holds for both multimale and multifemale groups. Within-species studies confirm this, showing that unrelated subordinates of both sexes are more likely to breed than related subordinates are. Crucially, subordinates in cooperative groups are more likely to breed if they are unrelated to the opposite-sex dominant, whereas relatedness to the same-sex dominant has no effect. This suggests that incest avoidance, rather than suppression by dominant breeders, may be an important proximate mechanism limiting reproduction by subordinates. Overall, these results support the ultimate evolutionary logic behind concessions models of skew-namely, that related subordinates gain indirect fitness benefits from helping at the nests of kin, so a lower direct reproductive share is required for selection to favor helping over dispersal-but not the proximate mechanism of dominant control assumed by these models.

  15. [Observation on gene polymorphism of Rh blood group in Chinese Han nationality].

    PubMed

    Lan, Jiong-Cai; Wang, Cong-Rong; Wei, Ya-Ming; Zhou, Hua-You; Cao, Qiong; Zhang, Yin-Ze; Jiang, KuReXi; Wu, Da-Lin; Liu, Zhong

    2003-12-01

    To observe the gene polymorphism of Rh blood group in unrelated random individuals and families for Chinese Han nationality, polymerase chain reaction-sequence specific primer (PCR-SSP) was used to amplify the Rh C/E gene, RhD gene, exons, intron 2 and 10, insert and Rh Box in 160 blood samples of RhD positive unrelated individuals and 71 samples of RhD negative unrelated individuals and 7 samples of families whose probands were RhD-negative. The results showed that RhD genes of RhD-negative individuals with C antigens were polymorphism, three forms were found for D exon including intact, partial deletion and complete deletion exons. Insert fragments and Rh Box were found in most cases of families whose probands were RhD-negative and its inheritance accorded with the Mendel's Law, and it did not affect the expression of RhD gene. "Normal" RhD exon 4 amplifying product was not found in all of the samples. It was concluded that gene structure of the RhD-negative in Chinese was polymorphism, intact, partial deletion and complete deletion exons were found in the individuals with C antigen and probably existed specific D (nf) Ce haplotype. The function of insert was uncertain. The Rh gene sequences of Chinese Han nationality are different from those of Caucasian and the Rh gene library based on Han nationality should be established.

  16. The same-location cost is unrelated to attentional settings: an object-updating account.

    PubMed

    Carmel, Tomer; Lamy, Dominique

    2014-08-01

    What mechanisms allow us to ignore salient yet irrelevant visual information has been a matter of intense debate. According to the contingent-capture hypothesis, such information is filtered out, whereas according to the salience-based account, it captures attention automatically. Several recent studies have reported a same-location cost that appears to fit neither of these accounts. These showed that responses may actually be slower when the target appears at the location just occupied by an irrelevant singleton distractor. Here, we investigated the mechanisms underlying this same-location cost. Our findings show that the same-location cost is unrelated to automatic attentional capture or strategic setting of attentional priorities, and therefore invalidate the feature-based inhibition and fast attentional disengagement accounts of this effect. In addition, we show that the cost is wiped out when the cue and target are not perceived as parts of the same object. We interpret these findings as indicating that the same-location cost has been previously misinterpreted by both bottom-up and top-down theories of attentional capture. We propose that it is better understood as a consequence of object updating, namely, as the cost of updating the information stored about an object when this object changes across time.

  17. Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

    PubMed

    Liu, Xuxia; Jiang, Tengyong; Piao, Chunmei; Li, Xiaoyan; Guo, Jun; Zheng, Shuai; Zhang, Xiaoping; Cai, Tao; Du, Jie

    2015-06-19

    Hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death. Mutations in the MYBPC3 gene represent the cause of HCM in ~35% of patients with HCM. However, genetic testing in clinic setting has been limited due to the cost and relatively time-consuming by Sanger sequencing. Here, we developed a HCM Molecular Diagnostic Kit enabling ultra-low-cost targeted gene resequencing in a large cohort and investigated the mutation spectrum of MYBPC3. In a cohort of 114 patients with HCM, a total of 20 different mutations (8 novel and 12 known mutations) of MYBPC3 were identified from 25 patients (21.9%). We demonstrated that the power of targeted resequencing in a cohort of HCM patients, and found that MYBPC3 is a common HCM-causing gene in Chinese patients. Phenotype-genotype analyses showed that the patients with double mutations (n = 2) or premature termination codon mutations (n = 12) showed more severe manifestations, compared with patients with missense mutations (n = 11). Particularly, we identified a recurrent truncation mutation (p.Y842X) in four unrelated cases (4/25, 16%), who showed severe phenotypes, and suggest that the p.Y842X is a frequent mutation in Chinese HCM patients with severe phenotypes.

  18. Polymorphisms of the peroxisome proliferator-activated receptor-γ (rs1801282) and its coactivator-1 (rs8192673) are associated with obesity indexes in subjects with type 2 diabetes mellitus.

    PubMed

    Kruzliak, Peter; Haley, Andreana P; Starcevic, Jovana Nikolajevic; Gaspar, Ludovit; Petrovic, Daniel

    2015-04-28

    The aim of this study was to clarify whether common single nucleotide polymorphisms (SNPs) of the Peroxisome Proliferator-Activated Receptor-γ (PPAR-γ) gene (rs1801282) and the Peroxisome Proliferator-Activated Receptor-γ Coactivator-1 (PGC-1α) gene (rs8192673) are associated with obesity indexes (BMI, waist circumference) in subjects with type 2 diabetes mellitus (T2DM) in Caucasian population. The second aim was to find an association of both polymorphisms with T2DM. Two exonic SNPs of both genes rs1801282 of the PPAR-γ gene and rs8192673 of the PGC-1α gene) were genotyped in 881 unrelated Slovene subjects (Caucasians) with T2DM and in 348 subjects without T2DM (control subjects). Female homozygotes with the CC genotype of the rs8192673 had higher waist circumference in comparison with subjects with other genotypes. Homozygotes (females, males) with wild allele (Pro) of the rs1801282 (Pro12Ala polymorphism) had higher waist circumference in comparison with subjects with other genotypes. In the study, there were no differences in the distributions of the rs8192673 and the rs1801282 genotypes between patients with T2DM and controls. Linear regression analyses for both polymorphisms were performed and demonstrated an independent effect of the rs1801282 of the PPAR-γ on waist circumference in subjects with T2DM, whereas an independent effect on waist circumference was not demonstrated for the rs8192673 of the PGC-1α gene. In a large sample of the Caucasians the rs8192673 of the PGC-1α gene and the rs1801282 of the PPAR-γ gene were associated with waist circumference in subjects with T2DM.

  19. Clinical complexity and Occam's razor: navigating between Scylla and Charibdy of the geriatric practice. A case of secondary hypertension in a very old patient.

    PubMed

    Turco, Renato; Torpilliesi, Tiziana; Morghen, Sara; Bellelli, Giuseppe; Trabucchi, Marco

    2009-05-01

    The clinical approach toward elderly patients is often very complex and associated with an increased risk of medical errors. This case report is an example of how various objective (related to patient) and subjective (related to physicians) factors may influence the optimal diagnostic approach in elderly frail patients. We also discuss geriatric practice, which must be characterized by the intellectual honesty to refuse any sort of prejudices (such as ageism) and by the skill to navigate between the Scylla (ie, viewing clinical problems as unrelated to each other) and the Charibdy (ie, applying the Occam's razor principle) of the patient's complexity.

  20. Ethical objections against including life-extension costs in cost-effectiveness analysis: a consistent approach.

    PubMed

    Gandjour, Afschin; Müller, Dirk

    2014-10-01

    One of the major ethical concerns regarding cost-effectiveness analysis in health care has been the inclusion of life-extension costs ("it is cheaper to let people die"). For this reason, many analysts have opted to rule out life-extension costs from the analysis. However, surprisingly little has been written in the health economics literature regarding this ethical concern and the resulting practice. The purpose of this work was to present a framework and potential solution for ethical objections against life-extension costs. This work found three levels of ethical concern: (i) with respect to all life-extension costs (disease-related and -unrelated); (ii) with respect to disease-unrelated costs only; and (iii) regarding disease-unrelated costs plus disease-related costs not influenced by the intervention. Excluding all life-extension costs for ethical reasons would require-for reasons of consistency-a simultaneous exclusion of savings from reducing morbidity. At the other extreme, excluding only disease-unrelated life-extension costs for ethical reasons would require-again for reasons of consistency-the exclusion of health gains due to treatment of unrelated diseases. Therefore, addressing ethical concerns regarding the inclusion of life-extension costs necessitates fundamental changes in the calculation of cost effectiveness.

  1. The role of semantically related distractors during encoding and retrieval of words in long-term memory.

    PubMed

    Meade, Melissa E; Fernandes, Myra A

    2016-07-01

    We examined the influence of divided attention (DA) on recognition of words when the concurrent task was semantically related or unrelated to the to-be-recognised target words. Participants were asked to either study or retrieve a target list of semantically related words while simultaneously making semantic decisions (i.e., size judgements) to another set of related or unrelated words heard concurrently. We manipulated semantic relatedness of distractor to target words, and whether DA occurred during the encoding or retrieval phase of memory. Recognition accuracy was significantly diminished relative to full attention, following DA conditions at encoding, regardless of relatedness of distractors to study words. However, response times (RTs) were slower with related compared to unrelated distractors. Similarly, under DA at retrieval, recognition RTs were slower when distractors were semantically related than unrelated to target words. Unlike the effect from DA at encoding, recognition accuracy was worse under DA at retrieval when the distractors were related compared to unrelated to the target words. Results suggest that availability of general attentional resources is critical for successful encoding, whereas successful retrieval is particularly reliant on access to a semantic code, making it sensitive to related distractors under DA conditions.

  2. Within-group male relatedness reduces harm to females in Drosophila

    PubMed Central

    Allen, Felicity; Wigby, Stuart; Pizzari, Tommaso

    2018-01-01

    Resolving the mechanisms that switch competition to cooperation is key to understand biological organization1. This is particularly relevant for intrasexual competition, which often leads to males harming females2. Recent theory proposes that kin selection may modulate female harm by relaxing competition among relatives3–5. We experimentally manipulated the relatedness of groups of male Drosophila melanogaster competing over females to demonstrate that, as expected, within group relatedness inhibits male competition and female harm. Females exposed to three brothers unrelated to the female had higher lifetime reproductive success and slower reproductive ageing compared to females exposed to triplets of males unrelated to each other. Triplets of brothers also fought less with each other, courted females less intensively and lived longer than triplets of unrelated males. However, associations among brothers may be vulnerable to invasion by minorities of unrelated males: when two brothers were matched with an unrelated male, the latter sired on average twice as many offspring as either brother. These results demonstrate that relatedness can profoundly affect fitness through its modulation of intrasexual competition, as flies plastically adjust sexual behaviour in a way consistent with kin selection theory. PMID:24463521

  3. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

    PubMed

    Corton, Marta; Avila-Fernandez, Almudena; Vallespín, Elena; López-Molina, María Isabel; Almoguera, Berta; Martín-Garrido, Esther; Tatu, Sorina D; Khan, M Imran; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Brión, María; García-Sandoval, Blanca; Cremers, Frans P M; Carracedo, Angel; Ayuso, Carmen

    2014-01-01

    We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype. Case series. A cohort of 217 unrelated Spanish families affected by autosomal recessive or isolated retinal dystrophy, that is, 79 families with LCA and 138 families with early-onset retinitis pigmentosa (EORP). A total of 100 healthy, unrelated Spanish individuals were screened as controls. High-resolution homozygosity mapping was performed in 44 patients with LCA using genome-wide single nucleotide polymorphism (SNP) microarrays. Direct sequencing of the LCA5 gene was performed in 5 patients who showed homozygous regions at chromosome 6 and in 173 unrelated individuals with LCA or EORP. The ophthalmic history of 8 patients carrying LCA5 mutations was reviewed and additional examinations were performed, including electroretinography (ERG), optical coherence tomography (OCT), and fundus photography. Single nucleotide polymorphism genotyping, identity-by-descent (IBD) regions, LCA5 mutations, best-corrected visual acuity, visual field assessments, fundus appearance, ERG, and OCT findings. Four novel and 2 previously reported LCA5 mutations have been identified in 6 unrelated families with LCA by homozygosity mapping or Sanger sequencing. Thus, LCA5 mutations have a frequency of 7.6% in the Spanish population. However, no LCA5 mutations were found in 138 patients with EORP. Although most of the identified LCA5 mutations led to a truncated protein, a likely pathogenic missense variant was identified for the first time as a cause of LCA, segregating in 2 families. We also have characterized a novel splicing site mutation at the RNA level, demonstrating that the mutant LCA5 transcript was absent in a patient. All patients carrying LCA5 mutations presented nystagmus, night blindness, and progressive loss of visual acuity and visual field leading to blindness toward the third decade of life. Fundoscopy showed fundus features of pigmentary retinopathy with atrophic macular lesions. This work reveals a higher frequency of LCA5 mutations in a Spanish LCA cohort than in other populations. This study established gene-specific frequencies and the underlying phenotype of LCA5 mutations in the Spanish population. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  4. Association of polymorphisms G(-174)C in IL-6 gene and G(-1082)A in IL-10 gene with traditional cardiovascular risk factors in patients with coronary artery disease.

    PubMed

    Elsaid, Afaf; Abdel-Aziz, A F; Elmougy, Rehab; Elwaseef, A M

    2014-08-01

    Interleukin-6 (IL-6) polymorphism has been associated with the genetic susceptibility to coronary artery disease (CAD) and also with the lipid profile in different populations. The present work aimed at studying the association, if any between the IL-6 (174) G/C and IL-10 (1082) G/A genes with hypertension or hyperlipidimia in Egyptian patients with CAD and the association of the IL-6 -174 G/C polymorphism with serum IL-6 levels. 108 Egyptian patients with CAD and 143 unrelated healthy subjects were included in the study. The different genotypes of IL-6 and IL-10 were detected by polymerase chain reaction. Serum levels of lipoprotein(a) [Lp(a)] and IL-6 were estimated in the patients, as well as in the healthy subjects. Increased frequency of G allele, GG and GC genotypes in IL-6, as well as decreased frequency of C allele and CC genotype were found in CAD patients, compared to healthy subjects [P = < 0.0001, OR = 3.95, 95% CI (2.16-7.22) for GG and GC vs CC genotype], [P = < 0.0001, OR = 3.44, 95% CI (2.26-5.23) for G allele]. There was an increased frequency of G allele vs A allele in IL-10 genotype in CAD patients, compared to healthy subjects [P = 0.005, OR = 1.866, 95% CI (1.2-2.9]. Higher levels of both Lp(a) and IL-6 were observed in CAD patients, compared to control subjects (P = 0.0012, P = 0.0346, respectively). Increased frequency of IL-6 -174 G-allele was implicated in a greater cardiovascular risk and the presence of G allele or homozygosity for G allele of IL-10 G/A (1082) was associated with an increased prevalence of CAD. The GC genotype and G allele in IL-6 had significant correlation with hyperlipidimic CAD patients; however, G allele in IL-6 and IL-10 showed significant association with hypertension. Thus, G allele in IL-6 and IL-10 was considered as an independent risk factor in hypertensive CAD patients.

  5. Erythrocyte Osmotic Fragility Testing and the Prediction of Canine Malignant Hyperthermia Susceptibility

    PubMed Central

    Cribb, Peter H.; Olfert, Ernest A.; Reynolds, F. Barry

    1986-01-01

    A Doberman-German Shepherd cross-bred male dog, previously diagnosed as malignant hyperthermia susceptible, was mated to an unrelated nonsusceptible German Shepherd cross-bred female. The resultant litter was subjected to hematological, biochemical and erythrocyte osmotic fragility testing in an endeavor to predict the susceptibility of individuals to malignant hyperthermia. Laboratory evaluations were repeated at one year of age and the litter subjected to the halothane challenge test. No significant difference in erythrocyte osmotic fragility was found between malignant hyperthermia susceptible and nonsusceptible siblings at six weeks or at one year of age. Erythrocyte osmotic fragility, in both malignant hyperthermia susceptible and nonsusceptible animals, increased between six weeks and one year of age. Dantrolene sodium was an effective treatment for malignant hyperthermia in the dog when administered early in an episode and in adequate dosage. The initial sign of a malignant hyperthermia episode was a very rapid increase in end tidal partial pressure of carbon dioxide. This finding reinforces the value of capnographic monitoring in anesthesia. PMID:17422730

  6. Penetration of levofloxacin into skin tissue after oral administration of multiple 750 mg once-daily doses.

    PubMed

    Chow, A T; Chen, A; Lattime, H; Morgan, N; Wong, F; Fowler, C; Williams, R R

    2002-04-01

    To probe the pharmacokinetic basis for the use of levofloxacin for complicated skin and skin-structure infections (SSSIs) at a once-daily dosage of 750 mg by investigating its penetration into skin tissue. Ten healthy volunteers were administered three oral, once-daily 750 mg doses of levofloxacin, and levofloxacin concentrations were subsequently measured over time (0.5-24 h) in skin-punch biopsy tissue and plasma. Skin tissue concentrations consistently exceeded those in plasma at every time point, with tissue/plasma ratios of 1.37 +/- 0.81 for peak concentration and 1.97 +/- 0.35 for area under the concentration versus time curve. Three of the ten subjects reported treatment-emergent adverse events (AEs) that were considered unrelated to treatment. An 11th subject who had enrolled in the study withdrew after AEs of mild severity that were possibly related to the study drug. The results support the clinical usage of levofloxacin 750 mg once-daily for complicated SSSIs.

  7. Using association rules to measure Subjective Organization after Acquired Brain Injury.

    PubMed

    Parente, Frederick; Finley, John-Christopher

    2018-01-01

    Subjective Organization (SO) refers to the human tendency to impose organization on our environment. Persons with Acquired Brain Injury (ABI) often lose the ability to organize however, there are no performance based measures of organization that can be used to document this disability. The authors propose a method of association rule analysis (AR) that can be used as a clinical tool for assessing a patient's ability to organize. Twenty three patients with ABI recalled a list of twelve unrelated nouns over twelve study and test trials. Several measures of AR computed on these data were correlated with various measures of short-term, long-term, and delayed recall of the words. All of the AR measures correlated significantly with the short-term and long-term memory measures. The confidence measure was the best predictor of memory and the number of association rules generated was the best predictor of learning. The confidence measure can be used as a clinical tool to assess SO with individual ABI survivors.

  8. Re-construction of action awareness depends on an internal model of action-outcome timing.

    PubMed

    Stenner, Max-Philipp; Bauer, Markus; Machts, Judith; Heinze, Hans-Jochen; Haggard, Patrick; Dolan, Raymond J

    2014-04-01

    The subjective time of an instrumental action is shifted towards its outcome. This temporal binding effect is partially retrospective, i.e., occurs upon outcome perception. Retrospective binding is thought to reflect post-hoc inference on agency based on sensory evidence of the action - outcome association. However, many previous binding paradigms cannot exclude the possibility that retrospective binding results from bottom-up interference of sensory outcome processing with action awareness and is functionally unrelated to the processing of the action - outcome association. Here, we keep bottom-up interference constant and use a contextual manipulation instead. We demonstrate a shift of subjective action time by its outcome in a context of variable outcome timing. Crucially, this shift is absent when there is no such variability. Thus, retrospective action binding reflects a context-dependent, model-based phenomenon. Such top-down re-construction of action awareness seems to bias agency attribution when outcome predictability is low. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  9. Re-construction of action awareness depends on an internal model of action-outcome timing

    PubMed Central

    Stenner, Max-Philipp; Bauer, Markus; Machts, Judith; Heinze, Hans-Jochen; Haggard, Patrick; Dolan, Raymond J.

    2014-01-01

    The subjective time of an instrumental action is shifted towards its outcome. This temporal binding effect is partially retrospective, i.e., occurs upon outcome perception. Retrospective binding is thought to reflect post-hoc inference on agency based on sensory evidence of the action – outcome association. However, many previous binding paradigms cannot exclude the possibility that retrospective binding results from bottom-up interference of sensory outcome processing with action awareness and is functionally unrelated to the processing of the action – outcome association. Here, we keep bottom-up interference constant and use a contextual manipulation instead. We demonstrate a shift of subjective action time by its outcome in a context of variable outcome timing. Crucially, this shift is absent when there is no such variability. Thus, retrospective action binding reflects a context-dependent, model-based phenomenon. Such top-down re-construction of action awareness seems to bias agency attribution when outcome predictability is low. PMID:24555983

  10. Botulinum toxin therapy for limb dystonias.

    PubMed

    Yoshimura, D M; Aminoff, M J; Olney, R K

    1992-03-01

    We investigated the effectiveness of botulinum toxin in 17 patients with limb dystonias (10 with occupational cramps, three with idiopathic dystonia unrelated to activity, and two each with post-stroke and parkinsonian dystonia) in a placebo-controlled, blinded study. We identified affected muscles clinically and by recording the EMG from implanted wire electrodes at rest and during performance of tasks that precipitated abnormal postures. There were three injections given with graded doses of toxin (average doses, 5 to 10, 10 to 20, and 20 to 40 units per muscle) and one with placebo, in random order. Subjective improvement occurred after 53% of injections of botulinum toxin, and this was substantial in 24%. Only one patient (7%) improved after placebo injection. Subjective improvement occurred in 82% of patients with at least one dose of toxin, lasting for 1 to 4 months. Response rates were similar between clinical groups. Objective evaluation failed to demonstrate significant improvement following treatment with toxin compared with placebo. The major side effect was transient focal weakness after 53% of injections of toxin.

  11. I 5683 you: dialing phone numbers on cell phones activates key-concordant concepts.

    PubMed

    Topolinski, Sascha

    2011-03-01

    When people perform actions, effects associated with the actions are activated mentally, even if those effects are not apparent. This study tested whether sequences of simulations of virtual action effects can be integrated into a meaning of their own. Cell phones were used to test this hypothesis because pressing a key on a phone is habitually associated with both digits (dialing numbers) and letters (typing text messages). In Experiment 1, dialing digit sequences induced the meaning of words that share the same key sequence (e.g., 5683, LOVE). This occurred even though the letters were not labeled on the keypad, and participants were not aware of the digit-letter correspondences. In Experiment 2, subjects preferred dialing numbers implying positive words (e.g., 37326, DREAM) over dialing numbers implying negative words (e.g., 75463, SLIME). In Experiment 3, subjects preferred companies with phone numbers implying a company-related word (e.g., LOVE for a dating agency, CORPSE for a mortician) compared with companies with phone numbers implying a company-unrelated word.

  12. What You See Isn’t Always What You Get: Auditory Word Signals Trump Consciously Perceived Words in Lexical Access

    PubMed Central

    Ostrand, Rachel; Blumstein, Sheila E.; Ferreira, Victor S.; Morgan, James L.

    2016-01-01

    Human speech perception often includes both an auditory and visual component. A conflict in these signals can result in the McGurk illusion, in which the listener perceives a fusion of the two streams, implying that information from both has been integrated. We report two experiments investigating whether auditory-visual integration of speech occurs before or after lexical access, and whether the visual signal influences lexical access at all. Subjects were presented with McGurk or Congruent primes and performed a lexical decision task on related or unrelated targets. Although subjects perceived the McGurk illusion, McGurk and Congruent primes with matching real-word auditory signals equivalently primed targets that were semantically related to the auditory signal, but not targets related to the McGurk percept. We conclude that the time course of auditory-visual integration is dependent on the lexicality of the auditory and visual input signals, and that listeners can lexically access one word and yet consciously perceive another. PMID:27011021

  13. The Effects of Physically Unrelated Near Neighbors on the Weak Galaxy-Galaxy Lensing Signal

    NASA Astrophysics Data System (ADS)

    Brainerd, Tereasa

    2018-01-01

    The effects of physically unrelated near neighbors on the weak galaxy-galaxy lensing signal are explored. Physically unrelated near neighbors are galaxies that are close to a given lens galaxy in projection on the sky, but are located at substantially different redshifts. Typically, the effects of such physically unrelated near neighbors are assumed to cancel. If that were truly the case, these objects would not contribute to the mean tangential shear around the lenses and they can be ignored when using an observed weak lensing signal to infer the excess surface mass density surrounding a set of lens galaxies. Here, observed galaxies with known redshifts and luminosities are used as the basis of a suite of Monte Carlo simluations of weak galaxy-galaxy lensing. The simulations incorporate the intrinsic clustering of the lens galaxies, as well as the intrinsic distribution of the lens galaxy masses. Dark matter halos of appropriate sizes and masses are assigned to each of the lens galaxies, and the net effect of all lenses on a set of background source galaxies is determined. The net weak lensing signal (i.e., the mean tangential shear due to all lenses along the line of sight) is computed and then compared to the excess surface mass density surrounding the lenses. Due to the broad redshift and mass distributions of the lenses, the effects of physically unrelated near neighbors in the simulations do not cancel. On scales equal to or greater than the scale for which the two-halo term contributes substantially to the shear, this non-cancellation of the effects of physically unrelated near neighbors significantly affects the accuracy with which the excess surface mass density may be inferred from the mean tangential shear via the standard formula: < ΔΣ > = < Σc γt > . The effects of physically unrelated near neighbors are greatest for the least massive lens galaxies but can also be important for the most massive lens galaxies.

  14. Pre-marital genetic counselling to consanguineous couples: attitudes, beliefs and decisions among counselled, noncounselled and unrelated couples in Israel.

    PubMed

    Shiloh, S; Reznik, H; Bat-Miriam-Katznelson, M; Goldman, B

    1995-11-01

    Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative; 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints.

  15. [EIA-IgG antibody measles prevention level estimated from measles neutralizing, particle agglutination and hemagglutination-inhibition antibody titer].

    PubMed

    Takayama, Naohide; Saika, Shizuko; Ichinohe, Sadato

    2009-09-01

    Measles hemagglutination inhibition (HI) antibody titer, widely used in clinical practice to simply and easily determine the measles immunity level has, in recent years, been increasingly replaced by measles IgG-antibody titer determined by enzyme-immunoassay (EIA). HI antibody titer appears to reflect this protective level, because HI measures the antibody against H protein required for the measles virus to adhere to host cells. EIA-IgG antibody titer does not correlate with the protective level, similar to particle agglutination (PA) titer, because EIA measures different antibodies, including those unrelated to measles protection. After determining HI, PA, neutralizing test (NT) results, and EIA-IgG antibody titer for individual specimens, we compared EIA-IgG antibody titer obtained using an EIA-Kit (Denka Seiken) to HI, PA, and NT titer with the following results: (1) Subjects with EIA-IgG titer of > or = 12.0 may be protected against measles: (2) Subjects with EIA-IgG titer of 4.0 to 8.0 appear to be protected insufficiently requiring a booster dose against measles: (3) Subjects with EIA-IgG titer of 8.0 to 12.0 may benefit from booster vaccination.

  16. Acute aerobic exercise hastens emotional recovery from a subsequent stressor.

    PubMed

    Bernstein, Emily E; McNally, Richard J

    2017-06-01

    Despite findings that regular exercise is broadly associated with emotional well-being, more basic research is needed to deepen our understanding of the exercise and emotion connection. This paper examines how acute aerobic exercise in particular influences subjective emotional recovery from a subsequent stressor. Potential mediators and moderators, including level of physical fitness, attentional control, and perseverative negative thinking were explored. All of the participants (n = 95) completed 3 laboratory visits, each including 1 of 3 activities (i.e., cycling, resting, stretching), tests of working memory and attentional control, and an experimental stressor. Self-reported rumination after the stressor and the experience of positive and negative emotions throughout the study were recorded. In this within-subjects paradigm, as expected, higher rumination in response to the stressor predicted more persistent negative emotion afterward; this effect was attenuated only by prior acute aerobic exercise, in this case, cycling, both 5 min and 15 min poststressor. This effect was unrelated to physical fitness or cognitive performance. Physical fitness level did predict greater attentional control and the capacity to update working memory. Acute aerobic exercise may facilitate subjective emotional recovery from a subsequent stressor and improve emotional flexibility. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  17. Developmental prosopagnosia and super-recognition: no special role for surface reflectance processing.

    PubMed

    Russell, Richard; Chatterjee, Garga; Nakayama, Ken

    2012-01-01

    Face recognition by normal subjects depends in roughly equal proportions on shape and surface reflectance cues, while object recognition depends predominantly on shape cues. It is possible that developmental prosopagnosics are deficient not in their ability to recognize faces per se, but rather in their ability to use reflectance cues. Similarly, super-recognizers' exceptional ability with face recognition may be a result of superior surface reflectance perception and memory. We tested this possibility by administering tests of face perception and face recognition in which only shape or reflectance cues are available to developmental prosopagnosics, super-recognizers, and control subjects. Face recognition ability and the relative use of shape and pigmentation were unrelated in all the tests. Subjects who were better at using shape or reflectance cues were also better at using the other type of cue. These results do not support the proposal that variation in surface reflectance perception ability is the underlying cause of variation in face recognition ability. Instead, these findings support the idea that face recognition ability is related to neural circuits using representations that integrate shape and pigmentation information. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Analysis of HLA in children with gelatin allergy.

    PubMed

    Sakaguchi, M; Nakayama, T; Kaku, H; Taniguchi, K; Saito, S; Kimura, A; Inouye, S

    2002-05-01

    Systemic immediate reactions including anaphylaxis to gelatin in vaccines have been reported. However, the number of such reports is very small compared with the number of children exposed to gelatin. The present study was designed to investigate whether susceptibility or resistance to gelatin allergy is associated with human leukocyte antigen (HLA) class II gene. Blood samples were obtained from 49 patients with gelatin allergy and specific IgE to gelatin. DNA-based HLA class II typing was performed to determine the DRB1, DQB1 and DPB1 alleles. Genotype frequencies were compared with those found in 240 unrelated controls. The frequency of DQB1*0303 (55.1%) was significantly higher in the patients than in the control subjects (32.1%). The frequency of DPB1*0402 was also significantly higher in the patients (32.7%) than in the control subjects (15.4%). On the other hand, the frequency of subjects carrying DRB1*15 (DRB1*1501 and DRB1*1502) was significantly lower among the patients group (18.4%) than among the controls (40.8%). We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.

  19. Iron overload secondary to cirrhosis: a mimic of hereditary haemochromatosis?

    PubMed

    Abu Rajab, Murad; Guerin, Leana; Lee, Pauline; Brown, Kyle E

    2014-10-01

    Hepatic iron deposition unrelated to hereditary haemochromatosis is common in cirrhosis. The aim of this study was to determine whether hepatic haemosiderosis secondary to cirrhosis is associated with iron deposition in extrahepatic organs. Records of consecutive adult patients with cirrhosis who underwent autopsy were reviewed. Storage iron was assessed by histochemical staining of sections of liver, heart, pancreas and spleen. HFE genotyping was performed on subjects with significant liver, cardiac and/or pancreatic iron. The 104 individuals were predominantly male (63%), with a mean age of 55 years. About half (46%) had stainable hepatocyte iron, 2+ or less in most cases. In six subjects, there was heavy iron deposition (4+) in hepatocytes and biliary epithelium. All six of these cases had pancreatic iron and five also had cardiac iron. None of these subjects had an explanatory HFE genotype. In this series, heavy hepatocyte iron deposition secondary to cirrhosis was commonly associated with pancreatic and cardiac iron. Although this phenomenon appears to be relatively uncommon, the resulting pattern of iron deposition is similar to haemochromatosis. Patients with marked hepatic haemosiderosis secondary to cirrhosis may be at risk of developing extrahepatic complications of iron overload. © 2014 John Wiley & Sons Ltd.

  20. Physiogenomic analysis of localized FMRI brain activity in schizophrenia.

    PubMed

    Windemuth, Andreas; Calhoun, Vince D; Pearlson, Godfrey D; Kocherla, Mohan; Jagannathan, Kanchana; Ruaño, Gualberto

    2008-06-01

    The search for genetic factors associated with disease is complicated by the complexity of the biological pathways linking genotype and phenotype. This analytical complexity is particularly concerning in diseases historically lacking reliable diagnostic biological markers, such as schizophrenia and other mental disorders. We investigate the use of functional magnetic resonance imaging (fMRI) as an intermediate phenotype (endophenotype) to identify physiogenomic associations to schizophrenia. We screened 99 subjects, 30 subjects diagnosed with schizophrenia, 13 unaffected relatives of schizophrenia patients, and 56 unrelated controls, for gene polymorphisms associated with fMRI activation patterns at two locations in temporal and frontal lobes previously implied in schizophrenia. A total of 22 single nucleotide polymorphisms (SNPs) in 15 genes from the dopamine and serotonin neurotransmission pathways were genotyped in all subjects. We identified three SNPs in genes that are significantly associated with fMRI activity. SNPs of the dopamine beta-hydroxylase (DBH) gene and of the dopamine receptor D4 (DRD4) were associated with activity in the temporal and frontal lobes, respectively. One SNP of serotonin-3A receptor (HTR3A) was associated with temporal lobe activity. The results of this study support the physiogenomic analysis of neuroimaging data to discover associations between genotype and disease-related phenotypes.

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