Background By 2019, there will be an estimated 4.68 billion mobile phone users globally. This increase comes with an unprecedented proliferation in mobile apps, a plug-and-play product positioned to improve lives in innumerable ways. Within this landscape, medical apps will see a 41% compounded annual growth rate between 2015 and 2020, but paradoxically, prevailing evidence indicates declining downloads of such apps and decreasing “stickiness” with the intended end users. Objective As usability is a prerequisite for success of health and wellness mobile apps, this paper aims to provide insights and suggestions for improving usability experience of the mobile health (mHealth) app by exploring the degree of alignment between mHealth insiders and consumers. Methods Usability-related major themes were selected from over 20 mHealth app development studies. The list of themes, grouped into 5 categories using the Nielsen usability model, was then used as a framework to identify and classify the responses from mHealth expert (insider) interviews. Responses from the qualitative phase were integrated into some questions for a quantitative consumer survey. Subsequently, categorical data from qualitative mHealth insider interviews and numerical data from a quantitative consumer survey were compared in order to identify common usability themes and areas of divergence. Results Of the 5 usability attributes described in Nielsen model, Satisfaction ranked as the top attribute for both mHealth insiders and consumers. Satisfaction refers to user likability, comfort, and pleasure. The consumer survey yielded 451 responses. Out of 9 mHealth insiders’ top concerns, 5 were similar to those of the consumers. On the other hand, consumers did not grade themes such as Intuitiveness as important, which was deemed vital by mHealth insiders. Other concerns of the consumers include in-app charges and advertisements. Conclusions This study supports and contributes to the existing pool of mixed-research studies. Strengthening the connectivity between suppliers and users (through the designed research tool) will help increase uptake of mHealth apps. In a holistic manner, this will have a positive overall outcome for the mHealth app ecosystem.

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Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease.

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