Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas

Primary hyperaldosteronism, one cause of which is aldosterone-producing adenomas (APAs), may account for ≤5% to 10% of cases of essential hypertension. Germline mutations have been identified in 2 rare familial forms of primary hyperaldosteronism, but it has been reported recently that somatic mutations of the KCNJ5 gene, which encodes a potassium channel, are present in some sporadic nonsyndromic APAs. To address this further we screened 2 large collections of sporadic APAs from the United Kingdom and Australia (totalling 73) and found somatic mutations in the selectivity filter of KCNJ5 in 41% (95% CI: 31% to 53%) of the APAs (30 of 73). These included the previously noted nonsynonymous mutations, G151R and L158R, and an unreported 3-base deletion, delI157, in the region of the selectivity filter. APAs containing a somatic KCNJ5 mutation were significantly larger than those without (1.61 cm [95% CI: 1.39-1.83 cm] versus 1.04 cm [95% CI: 0.91-1.17 cm]; P<0.0001) but with substantial overlap in size between genotypes. The APAs carrying a mutation, but not those without, also consistently lacked a postural aldosterone response, suggesting a physiologically distinct subtype. Hence, somatic KCNJ5 mutations are not restricted to large APAs (>2 cm), and their frequency in our unselected series suggests they are common and could be important in the molecular pathogenesis of many sporadic cases of APA.     

Participants’ perceptions of an aphasia-friendly occupational therapy home program

Background: Upper extremity impairments post-stroke impact participation in valued occupations. Home programs are used to extend the frequency and amount of upper extremity practice for people post-stroke, but novel ways of increasing adherence to these programs is needed to ensure intense repetitive practice.

Objectives: The purpose of this process evaluation, was to examine the perceptions of people with aphasia as it relates to modifications to home programs that could influence participation, specifically listening to music and aphasia-friendly adaptations of written materials.

Methods: Seven people with chronic aphasia completed an upper extremity home program that included the use of music and aphasia-friendly modified materials (ClinicalTrials.gov ID:2016/06/18). After the home program, participants completed semi-structured interviews to understand their perceptions of the program and the modifications.

Results: Five themes were identified including (1) music, (2) activities, (3) instructions, (4) logistics, and (5) progress. Most participants perceived music as helpful, but a few reported it being distracting. Participants found the variety of activities helpful as well as specific characteristics of the instructions such as photographs and images. Some participants expressed elements of the home program to be barriers to practice such as using the activity monitors and logbook, which required assistance at times. Finally, participants noted their own progress resulting from the program and liked that they could adjust the intensity of the program as they progressed.

Conclusions: Overall participants in this study with aphasia perceived the modifications to home programs including aphasia friendly written instructions and music to facilitate successful home practice.