Implementation of INHERET, an Online Family History and Cancer Risk Interpretation Program for Primary Care and Specialty Clinics.

Background: Individuals at increased risk for cancer are ascertained at low rates of 1% to 12% in primary care (PC). Underserved populations experience disparities of ascertainment, but data are lacking. INHERET is an online personal and family history tool to facilitate the identification of individuals who are eligible, according to guidelines, to be counseled on germline genetic testing and risk management.

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Purpose: To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3).

Design: Cross-sectional study of a series of patients.

Participants: Sixteen patients with HPS-1 and 14 patients with HPS-3 were studied.

Endoscopic facial surgery.

Endoscopy is a surgical technique involving the use of an endoscope, an instrument with a tiny camera inserted through very small incisions designed to project images of the body's internal structures onto a video monitor. In aesthetic surgery, endoscopic technology is a solution to the scarring problems that have long frustrated patients and surgeons alike.

A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.

In nephropathic cystinosis, corneal cystine crystals cause severe photophobia and corneal erosions. Topical cysteamine dissolves these crystals, but cannot be marketed because it rapidly oxidizes to the disulfide form, cystamine, at room temperature. Since cystamine itself could be used commercially, we compared the efficacy of cystamine and cysteamine with respect to cystine crystal dissolution in a randomized, double-masked clinical trial.

A review of autoimmune disorders anecdotally linked to mammary implants.

Autoimmune disorders lead to a sequence of tissue reactions and damage that may produce diffuse, systemic signs and symptoms. Litigants in many breast implants trials have claimed their autoimmune disorders (rheumatoid arthritis, scleroderma, and SLE) were from a causal relationship with mammary implants. Science suggests environmental factors, such as vinyl chloride, and hereditary factors may account for some of the prevalence of these disorders, however the exact cause remains a mystery and brings into question the claims being brought by litigants regarding implants.