Understanding service users’ and therapists’ experiences of pharmacological treatment for sexual preoccupation and/or hypersexuality in incarcerated sex offenders

This research comprises two qualitative studies understanding the experiences of 1) convicted sex offenders voluntarily receiving pharmacological treatment to reduce sexual preoccupation and 2) therapists working with these offenders. The studies form part of a research programme evaluating the use of pharmacological treatment with sexual offenders. In study one, semi-structured interviews were conducted with 13 sexual offenders receiving selective serotonin reuptake inhibitors (SSRIs). In study two, interviews were conducted with eight intervention staff with varying levels of experience of working with offenders taking anti-libidinals. Thematic analysis was used and in study one, two main themes emerged: (i) the impact of the pharmacological treatment on prisoners’ daily functioning; (ii) barriers to compliance/engagement. In study two, three main themes emerged: (i) offenders’ reluctance to engage with pharmacological treatment; (ii) challenges for therapists; (iii) pharmacology: ‘just another piece of the puzzle’. Findings are discussed in relation to practice and future research

Planck early results III : First assessment of the Low Frequency Instrument in-flight performance

Peer reviewe

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We present clinical, immunohistochemical, and genetic data on four COL6-RD families with marked intergenerational phenotypic heterogeneity. This variable expression seemingly masquerades as anticipation is due to parental mosaicism for a dominant mutation, with subsequent full inheritance and penetrance of the mutation in the heterozygous offspring. We also present an additional fifth simplex patient identified as a mosaic carrier. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. Consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. However, there was notable variability of the mutant allele levels between tissues tested, ranging from 16% (saliva) to 43% (fibroblasts) in one mosaic father. This is the first report demonstrating mosaicism as a cause of intrafamilial/intergenerational variability of COL6-RD, and suggests that sporadic and parental mosaicism may be more common than previously suspected