Nov 1, 2012 Issue
When to Suspect a Genetic Syndrome [Article]

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 ...

Oct 1, 2010 Issue
Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management [Article]

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...

Jun 15, 2010 Issue
Diagnosing Von Willebrand Disease [FPIN's Clinical Inquiries]

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).

Apr 15, 2010 Issue
Examining the Heart of Family Medicine: Family History [Editorials]

Dec 15, 2009 Issue
ACOG Guidelines for Managing Hereditary Breast and Ovarian Cancer Syndrome [Practice Guidelines]

The American College of Obstetricians and Gynecologists (ACOG) has produced guidelines for physicians caring for patients with BRCA1 and BRCA2 gene mutations. Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome.

Dec 1, 2009 Issue
The CDC's EGAPP Initiative: Evaluating the Clinical Evidence for Genetic Tests [Editorials]

Jul 15, 2009 Issue
Eczematous Skin Lesions in an Infant [Photo Quiz]

Photo Quiz presents readers with a clinical challenge based on a photograph or other image.

Jul 1, 2009 Issue
Multiple Pulmonary Nodules [Photo Quiz]

Photo Quiz presents readers with a clinical challenge based on a photograph or other image.

Jan 15, 2009 Issue
Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis [Article]

Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling in the first ...

Jun 1, 2008 Issue
Genetic Factors In Drug Metabolism [Article]

Patients vary widely in their response to drugs. Having an understanding of the pharmacokinetic and pharmacodynamic properties of various medications is importantwhen assessing ethnic differences in drug response. Genetic factors can account for 20 to 95 percent of patient variability. Genetic polym...

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