Confidentiality Discussions and Private Time With a Health-Care Provider for Youth,United States, 2016

Purpose

The objective of the study was to define factors associated with adolescent and young adult (AYA) experiences with private time and having discussed confidentiality and the impact of these experiences on improving delivery of clinical preventive services.

Dominant ARL3-related retinitis pigmentosa

Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys).

Methods: Clinical examination included optical coherence tomography, electroretinography, and ultra-wide field retinal imaging with autofluorescence. Retrospective data were collected from the registry of inherited retinal diseases at Oslo university hospital. DNA was analysed by whole-exome sequencing and Sanger sequencing. The ARL3 missense variant was visualized in a 3D-protein structure.

Results: The phenotype was non-syndromic retinitis pigmentosa with cataract associated with early onset of decreased central vision and central retinal thinning. Sanger sequencing confirmed the presence of a de novo ARL3 missense variant p.(Tyr90Cys) in the index patient and his affected son. We did not find any other cases with rare ARL3 variants in a cohort of 431 patients with retinitis pigmentosa-like disease. By visualizing Tyr90 in the 3D protein structure, it seems to play an important role in packing of the α/β structure of ADP-ribosylation factor-like 3 (ARL3). When changing Tyr90 to cysteine, we observe a loss of interactions in the core of the α/β structure that is likely to affect folding and stability of ARL3.

Conclusion: Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa.     

Transforming brain signals related to value evaluation and self‐control into behavioral choices

The processes involved in value evaluation and self‐control are critical when making behavioral choices. However, the evidence linking these two types of processes to behavioral choices in intertemporal decision‐making remains elusive. As the ventromedial prefrontal cortex (vmPFC), striatum, and dorsolateral prefrontal cortex (dlPFC) have been associated with these two processes, we focused on these three regions. We employed functional magnetic resonance imaging during a delayed discounting task (DDT) using a relatively large sample size, three independent samples. We evaluated how much information about a specific choice could be decoded from local patterns in each brain area using multivoxel pattern analysis (MVPA). To investigate the relationship between the dlPFC and vmPFC/striatum regions, we performed a psychophysiological interaction (PPI) analysis. In Experiment I, we found that the vmPFC and dlPFC, but not the striatum, could determine choices in healthy participants. Furthermore, we found that the dlPFC showed significant functional connectivity with the vmPFC, but not the striatum, when making decisions. These results could be replicated in Experiment II with an independent sample of healthy participants. In Experiment III, the choice‐decoding accuracy in the vmPFC and dlPFC was lower in patients with addiction (smokers and participants with Internet gaming disorder) than in healthy participants, and decoding accuracy in the dlPFC was related to impulsivity in addicts. Taken together, our findings may provide neural evidence supporting the hypothesis that value evaluation and self‐control processes both guide the intertemporal choices, and might provide potential neural targets for the diagnosis and treatment of impulsivity‐related brain disorders.     

Effectiveness of cognitive rehabilitation for people with multiple sclerosis: a meta-synthesis of patient perspectives

While previous randomised controlled trials and meta-analyses offer only limited evidence for the effectiveness of cognitive rehabilitation, qualitative studies examining patient perspectives report more positive outcomes. This meta-synthesis of qualitative studies examined patient perspectives of cognitive rehabilitation for memory, attention, and executive function problems in people with multiple sclerosis. Using set eligibility criteria, we screened electronic databases, reference lists, and academic networks for relevant papers. Seven papers (195 participants) were selected. Two independent researchers conducted quality appraisals of papers. Data analysis, guided by the thematic synthesis approach, yielded six main themes. These suggested that patients benefitted from the group environment in rehabilitation. Cognitive rehabilitation facilitated the participants’ reflection and awareness of their cognitive deficits, and was associated with increased knowledge and understanding of their illness. Increased strategy use was reported and associated with improvements in cognitive functioning and greater confidence and perseverance. Participants reported emotional and social improvements, and felt more optimistic. Overall, these changes had a positive impact on participants’ quality of life. This synthesis of qualitative studies indicates that people with multiple sclerosis who experience cognitive deficits benefit from cognitive rehabilitation programmes. This finding must, however, be viewed in light of the limitations of this meta-synthesis. The meta-synthesis was registered in the PROSPERO database under CRD42017040148.