Mutations in the telomere capping complex in bone marrow failure and related syndromes

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plus. CTC1, STN1 and TEN1 are part of the telomere-capping complex involved in maintaining telomeric structural integrity. Based on phenotypic overlap we screened 73 genetically uncharacterized patients with dyskeratosis congenita and related bone marrow failure syndromes for mutations in this complex. Biallelic CTC1 mutations were identified in 6 patients but none in either STN1 or TEN1. We have expanded the phenotypic spectrum associated with CTC1 mutations and report that intracranial and retinal abnormalities are not a defining feature, as well as showing that the effect of these mutations on telomere length is variable. The study also demonstrates the lack of disease-causing mutations in other components of the telomere-capping complex.     

Posthypnotic responding: The relevance of suggestion and test congruence

Thirty real, hypnotized subjects and 34 simulating, unhypnotized subjects were given either a suggestion to respond when they heard a cue (general) or a suggestion to respond when they heard a cue after hypnosis (posthypnotic). Half the subjects were given the cue during hypnosis (hypnotic test) and half were given it after hypnosis (posthypnotic test). Those who were given the cue during hypnosis were also given it after hypnosis. Between- and within-group comparisons were made of subjects' behavioral responses, latencies to respond, and ratings of experiential compulsion. The findings indicated that subjects' behavior and experience were influenced by congruence between information conveyed by the suggestion and the test about when and how they should respond.     

Mutual Liking, Enjoyment, and Shared Interactions in the Closest Relationships between Children with Developmental Disabilities and Peers in Inclusive School Settings

Typically analysis of the characteristics of friendships is made on the basis of nomination of a friend or best friend, with the assumption that this nomination reflects actual friendship. While it is possible that this assumption may be valid in typically developing children, this may not be the case for relationships for students with developmental disabilities. The relationships of 16 students with developmental disabilities in grades 1 through 6 and their three closest peers were examined to determine if dyads engaged in behaviors associated with defining components of friendship (i.e. shared interaction, mutual enjoyment, mutual liking) from literature on typically developing children. Interviews were conducted with target students, as well as with their peers, parents and teachers. Interview data indicated that the majority of dyads engaged at least sometimes in behaviors related to each of the defining components of friendship and reported behaviors associated with these components were typically reported as mutual. Additionally, voluntary peer nomination of friends at the beginning of interviews corresponded well with the presence of characteristics of friendship but this was less so when peers needed to be asked directly whether a child with a disability was a friend.     

Ethics education for health professionals: A values based approach

It is now widely accepted that ethics is an essential part of educating health professionals. Despite a clear mandate to educators, there are differing approaches, in particular, how and where ethics is positioned in training programmes, underpinning philosophies and optimal modes of assessment. This paper explores varying practices and argues for a values based approach to ethics education. It then explores the possibility of using a web-based technology, the Values Exchange, to facilitate a values based approach. It uses the findings of a small scale study to signal the potential of the Values Exchange for engaging, meaningful and applied ethics education.