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.

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).

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.

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.