Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members. Our study revealed a novel predicted pathogenic, homozygous missense mutation in the AHSG (OMIM 138680) gene (AHSG: NM_001622:exon7:c.950G>A:p.Arg317His). The variant is predicted to affect a region of the protein required for protein processing and disrupts a phosphorylation motif. In addition, the altered protein migrates with an aberrant size relative to healthy individuals. Consistent with the phenotype, AHSG maps within APMR linkage region 1 (APMR 1) as reported before, and falls within runs of homozygosity (ROH). Previous families with APMR syndrome have been studied through linkage analyses and the linkage resolution did not allow pointing out to a single gene candidate. Our study is the first report to identify a homozygous missense mutation for APMR syndrome through whole-exome sequencing.

Dental patients' perceptions of and desired content from patient health portals.

BACKGROUND: Patient health portals (PHPs) encourage patient engagement to achieve the quadruple aim of health care: to improve the patient's experience of care, improve population health, reduce health care costs, and improve the work life of health care providers. The purpose of this study was to capture dental patients' perspectives on PHPs and their desired content. Specifically, the authors examined the important features for dental patients to have as well as the barriers and facilitators of PHPs. METHODS: The authors conducted a cross-sectional study of adult patients attending the predoctoral, faculty, and resident clinics at an academic dental center from July through October 2020. Patients were invited to complete an 18-item self-administered survey. The survey captured patient demographics, preferences, desired content, and facilitators and barriers of PHPs. The authors performed descriptive statistical analysis and bivariate analysis. RESULTS: A total of 325 people participated. Most participants had a bachelor's degree, internet access, government insurance, and a combined household income of more than $50,000 per year. Completed procedures, past visit summaries, and date of last visit were the top 3 types of information patients desired in dental health PHPs. The top 3 desired oral health topics in PHPs included signs of gingival disease and proper management, caries prevention, and proper toothbrushing and flossing techniques. Highest perceived barriers included high cost and privacy and security concerns. Highest perceived facilitators included user-friendly portals and monitoring personal health. CONCLUSIONS: This study highlights dental patients' preferences for a PHP and can inform the development of dental PHPs. Dentists must overcome identified barriers to increase patient engagement in using dental PHPs. PRACTICAL IMPLICATIONS: Implementing the patient-identified features in a dental PHP will help improve the quality of oral health care delivery by increasing patient engagement and improving the patient's experience.