Glaucoma medication adherence among African Americans: program development.

PURPOSE: To elucidate barriers and facilitators related to glaucoma medication adherence among African Americans (AA) with glaucoma and to elicit input from a community-based participatory research team to guide the development of a culturally informed health promotion program for improving glaucoma medication adherence among AAs. METHODS: The nominal group technique (NGT), a highly structured focus group methodology, was implemented with 12 separate groups of AA patients with glaucoma (N = 89) to identify barriers and facilitators related to glaucoma medication usage. Participant rank-ordering votes were summed across groups and categorized into themes. Next, an individually and culturally targeted health promotion program promoting appropriate medication adherence was developed based on focus group results and input from a community-based participatory research team. RESULTS: The top five barriers included problems with forgetfulness, side effects, cost/affordability, eyedrop administration, and the eyedrop schedule. The most salient top five facilitators were fear or thoughts about the consequences of not taking eyedrops; use of memory aids, cues, or strategies; maintaining a regular routine or schedule for eyedrop administration; ability to afford eyedrops; and keeping eyedrops in the same area. The resulting health promotion program was based on a multicomponent empowerment framework that included glaucoma education, motivational interviewing, and problem-solving training to improve glaucoma medication adherence. CONCLUSIONS: Barriers and facilitators related to glaucoma medication adherence among AAs are multifactorial. Based on the NGT themes and input from the community-based participatory research team, a culturally informed health promotion program was designed and holds great promise for improving medication adherence among this vulnerable population.

Influence of family history on penetrance of hereditary cancers in a population setting.

Background: We sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort. Methods: We analysed 454,712 UK Biobank participants with exome sequence and clinical data (data collected between March 2006 and June 2021). We identified participants with a self-reported family history of breast or colorectal cancer and a pathogenic/likely pathogenic variant in the major genes responsible for hereditary breast cancer or Lynch syndrome. We calculated survival to cancer diagnosis (controlled for sex, death, recruitment centre, screening and prophylactic surgery). Findings: Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree family history (relative hazard 10.3 and 7.8, respectively) than those without (7.2 and 4.7). Penetrance to age 60 was also higher in those with a family history (44.7%, CI 32.2-59.3 and 24.1%, CI 17.5-32.6) versus those without (22.8%, CI 15.9-32.0 and 17.9%, CI 13.8-23.0). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of colorectal cancer that was significantly higher in those with a family history (relative hazard 35.6, 48.0 and 9.9) than those without (13.0, 15.4 and 7.2). Penetrance to age 60 was also higher for carriers of a pathogenic MLH1 or MSH2 variant in those with a family history (30.9%, CI 18.1-49.3 and 38.3%, CI 21.5-61.8) versus those without (20.5% CI 9.6-40.5 and 8.3% CI 2.1-30.4), but not for MSH6 (6.5% CI 2.7-15.1 with family history versus 8.3%, CI 5.1-13.2). Relative risk increases were also observed both within and across conditions. Interpretation: Individuals with pathogenic cancer syndrome variants may be at a less elevated risk of cancer in the absence of a first-degree family history, so in the context of results return, family history should be considered when counselling patients on the risks and benefits of potential follow-up care. Funding: The current work is supported by the MRC (grant no MR/T00200X/1). The MRC had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Feasibility, Patient Acceptability, and Preliminary Efficacy of a Culturally Informed, Health Promotion Program to Improve Glaucoma Medication Adherence Among African Americans: "Glaucoma Management Optimism for African Americans Living with Glaucoma" (GOAL).

PURPOSE/AIMS: To examine the feasibility, patient acceptability, and preliminary effectiveness of a culturally informed, health promotion program designed to improve glaucoma medication adherence among African American's (AA's) with glaucoma. MATERIALS/METHODS: A sample of 11 AA glaucoma patients (mean age 61 years; 73% women and 27% men) completed a culturally informed and individually tailored, health promotion program developed for AAs titled, "Glaucoma Management Optimism for African Americans Living with Glaucoma" (GOAL)©. The aim of the brief 4-week program is to enhance glaucoma medication adherence through a combination of education, motivational interviewing (MI), and problem-solving training (PST). Feasibility was assessed on the basis of patient satisfaction with the program, number of sessions completed, and length of sessions. Preliminary efficacy was evaluated using a pre-post design to determine whether the program improved objective glaucoma medication adherence via an electronic Travalert dosing aid as well as satisfaction with aspects of glaucoma treatment, health beliefs about medications, glaucoma symptoms, emotional well-being, and intraocular pressure. RESULTS: Overall patient satisfaction and acceptability was high for the program, interactions with the health educator, program materials, and the length of sessions. Feasibility was also supported given the need for the program, success in recruitment/retention, and ease of implementing the program with AA glaucoma patients in clinic and/or over the telephone. In terms of preliminary efficacy, patients showed significant pre-post improvements in objective medication adherence rates by 15% (p = 0.03), self-efficacy for glaucoma management (p = 0.02), ease of use in administering eye drops (p = 0.03), glaucoma treatment satisfaction (p = 0.05), beliefs about the necessity of taking glaucoma medications (p = 0.05), and functional visual ocular symptoms (p = 0.03). CONCLUSIONS: (GOAL)© holds great promise toward improving glaucoma medication adherence and beliefs among AA's with glaucoma.

Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.

Aortoesophageal fistula: a case report.

Patients with impacted foreign bodies in the upper aerodigestive tract present commonly to ENT clinics. This case report highlights two important issues in the management of these patients. First, if the evidence of esophageal perforation is strong and contrast swallow is negative, the physician must consider further imaging, such as contrast computed tomography. Second, ENT physicians must beware of the complications of esophageal trauma, including major vascular injury and aortoesophageal fistula, in patients with retained sharp foreign bodies in the mid-esophagus.