Search

Neurofibromatosis type 1 is the most common neurocutaneous syndrome, with a frequency of 1 in 2500 persons. Diagnosis is paramount in the pretumor stage to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional production of neurofibromin, a tumor suppressor protein involved in downregulating the RAS signaling pathway. New therapeutic and preventive options include tyrosine kinase inhibitors, mTOR inhibitors, interferons, and radiofrequency therapy. This review summarizes recent updates in genetics, mutation analysis assays, and treatment options targeting aberrant genetic pathways. We also propose modified diagnostic criteria and provide an algorithm for surveillance of patients with neurofibromatosis type 1. [ABSTRACT FROM AUTHOR]

Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. In addition, MTS may be unmasked in transplant recipients taking specific immunosuppressant drugs or other immunosuppressed patients. Neoplasms may be subject to immunohistochemistry or both immunohistochemistry and genetic testing to confirm the diagnosis of MTS. Here, we offer an update and an approach to the diagnosis and management of MTS with a particular emphasis on the role of immunohistochemistry and genetic testing. [ABSTRACT FROM AUTHOR]

Background Patients increasingly consult online resources for healthcare information. The American Medical Association (AMA) and National Institutes of Health (NIH) recommend that online education resources be written between a 3rd- and 7th-grade level. This study assesses whether online health information abides by these guidelines. Methods Ten pediatric ophthalmology conditions were entered into a commonly used search engine, Google.com , and analyzed using 10 validated readability scales. Scientific articles and articles written on patient forums were excluded. The 10 conditions—amblyopia, cataract, conjunctivitis, corneal abrasion, nystagmus, retinoblastoma, retinopathy of prematurity, strabismus, stye, and glaucoma—were also searched and analyzed separately from widely used websites, including Wikipedia and WebMD, as well as those of professional societies, including the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) and the American Optometric Association (AOA). Results The majority of articles were written above recommended guidelines. All scales showed that the 100 articles were written at a mean grade-level of 11.75 ± 2.72. Only 12% of articles were written below a 9th-grade level and only 3% met recommended criteria. The articles accrued separately from Wikipedia, WebMD, AAPOS, and AOA also had average grade levels above the recommended guidelines. Conclusions The readability of online patient education material exceeds NIH and AMA guidelines. This disparity can adversely affect caregiver comprehension of such resources and contribute to poor decision making. Pediatric ophthalmology online articles are generally written at a level too high for average caregiver comprehension. Revision of articles can increase satisfaction, improve outcomes, and facilitate the patient–ophthalmologist relationship. [ABSTRACT FROM AUTHOR]