ITEMS IN AFP WITH KEYWORD:
A newborn presents with bilateral wrist flexion and shortened forearms.
Patients informed via genetic test results that they were at increased risk of disease did not subsequently alter their behaviors. For example, persons at increased risk of diabetes mellitus or hypertension were no more likely to change their diet or increase their physical activity. Fancy tests do not appear to be motivators for behavior change.
Social media and the Internet can be valuable resources for patients, especially for those who have been estranged from their families.
Clinical pharmacogenetics, the use of genetic data to guide drug therapy decisions, is increasingly being used for medications commonly prescribed by family physicians. Two common gene-drug pairs are discussed to illustrate how pharmacogenetic data can be applied clinically.
Family physicians should not naively accept a new technology because it is the latest trend. We need to assess the clinical utility of potential applications of genetic information, adopting them when they improve patient-oriented outcomes and avoiding them when they simply add costs for little to no benefit.
Family physicians play a key role in identifying patients in need of increased cancer surveillance because of a personal or family history of cancer. How does one know if a patient warrants genetic testing for hereditary cancer predisposition?
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of...
Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family physicians to the ...
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring...
The diagnosis of vWD requires two clinical criteria: (1) a personal history, family history, or physical evidence of mucocutaneous bleeding and (2) a qualitative or quantitative decrease in functional activity of von Willebrand factor (vWF).