The mediating roles of disgust sensitivity and danger expectancy in relation to hand washing behaviour

Copyright © 2010 British Association for Behavioural and Cognitive PsychotherapiesBackground: Recent interest in the role of vulnerability factors in obsessional washing has suggested that disgust sensitivity, danger expectancy and health anxiety may be of interest. Aims: This study explores the differential impact of these factors on both behavioural and cognitive measures of washing behaviour and is based on a replication of the Jones and Menzies (1997) experiment, during which participants immersed their hands in a noxious compound while rating themselves on a range of measures: the time they subsequently took to wash their hands was measured and danger expectancies were found to be the best predictor of this. Method: The present study added measures of disgust sensitivity and health anxiety to this experimental methodology while removing factors they found to be of little import to compulsive washing. Thirty non-clinical participants took part. Results: Results confirmed that disgust sensitivity was related to the behavioural measure of washing time, but that this relationship was almost entirely mediated by the danger expectancy concerning judgements of severity of consequent disease. However, a different pattern emerged when the outcome measure was questionnaire based: danger expectancy was not at all related to this. Disgust sensitivity mediated the relationship between health anxiety and scores on a questionnaire measure of washing compulsions. Interestingly, these scores were not related to the behavioural measure of washing time. Conclusions: The implications of these relationships to the further development of subtypes of Obsessive Compulsive Disorder (OCD) are discussed

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic X-linked mental retardation (XLMR), two families were identified with truncating mutations in BRWD3, a gene encoding a bromodomain and WD-repeat domain–containing protein. In both families, the mutation segregates with the phenotype in affected males. Affected males have macrocephaly with a prominent forehead, large cupped ears, and mild-to-moderate intellectual disability. No truncating variants were found in 520 control X chromosomes. BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic X-linked mental retardation (XLMR), two families were identified with truncating mutations in BRWD3, a gene encoding a bromodomain and WD-repeat domain–containing protein. In both families, the mutation segregates with the phenotype in affected males. Affected males have macrocephaly with a prominent forehead, large cupped ears, and mild-to-moderate intellectual disability. No truncating variants were found in 520 control X chromosomes. BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation.Michael Field, Patrick S. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, Jon Teague, Adam Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo, Helen Hughes, Marie Shaw, Kathryn L. Friend, Mark Corbett, Gillian Turner, Michael Partington, John Mulley, Martin Bobrow, Charles Schwartz, Roger Stevenson, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymon

Guidelines for the use of flow cytometry and cell sorting in immunological studies

International audienceThe classical model of hematopoiesis established in the mouse postulates that lymphoid cells originate from a founder population of common lymphoid progenitors. Here, using a modeling approach in humanized mice, we showed that human lymphoid development stemmed from distinct populations of CD127(-) and CD127(+) early lymphoid progenitors (ELPs). Combining molecular analyses with in vitro and in vivo functional assays, we demonstrated that CD127(-) and CD127(+) ELPs emerged independently from lympho-mono-dendritic progenitors, responded differently to Notch1 signals, underwent divergent modes of lineage restriction, and displayed both common and specific differentiation potentials. Whereas CD127(-) ELPs comprised precursors of T cells, marginal zone B cells, and natural killer (NK) and innate lymphoid cells (ILCs), CD127(+) ELPs supported production of all NK cell, ILC, and B cell populations but lacked T potential. On the basis of these results, we propose a "two-family" model of human lymphoid development that differs from the prevailing model of hematopoiesis