Genetic Disorders

Ask a Librarian!—January 2012

Jim Anderson, PA-C, ATC, Susan Klawansky, MLS, AHIP January 13, 2012

This month's topics include reliable sources for genetic conditions and counseling and where to find Web sites notable for their dermatology resources.

Preimplantation genetic diagnosis

R. Lynn Holt, MS, CGC September 22, 2011

This article reviews the use of preimplantation genetic diagnosis (PGD), an assisted reproductive technology that has been used to evaluate embryos for genetic conditions prior to implantation.

Lynch syndrome, an autosomal dominant disorder that carries a high risk for colorectal and endometrial cancers, can be best detected by obtaining a family cancer history, screening colorectal and endometrial cancers for LS, and genetic testing of at-risk patients and family members.

Polydactyly in a young boy: A cause of teasing and local tribal suspicion

Commander Nora M. Perez, PA-C, Major Marc C. Raciti, PA-C June 27, 2011

During a medical civic action program in Ethiopia, a 10-year-old male with polydactyly arrived with his father for surgical removal of his extra digits, the cause of much taunting and grief.

What's new in Alzheimer disease:  Biomarkers and gene mutations as aids for detecting AD early

John K. Grandy, MS, RPA-C June 16, 2011

New discoveries in neurogenetics and proteinopathies may allow Alzheimer disease to be detected in patients even before symptoms manifest.

Familial dilated cardiomyopathy

Nguyen H. Park, MS, PA-C May 10, 2011

Dilated cardiomyopathy (DCM) is a broad category of conditions in which the heart muscle enlarges, causing left ventricular systolic dysfunction. Clinicians should understand how to conduct genetic testing and manage this disorder.

Neurofibromatosis, type 1  (von Recklinghausen disease)

Constance Goldgar, MS, PA-C March 09, 2011

NF1 is an autosomal dominant condition that exemplifies pleiotropy, the genetic effect of a single gene on multiple phenotypic traits. The disorder affects multiple systems.

Mystery solved: The evolution of  diagnostic abilities in genetic testing

Gary S. Gottesman, MD, FAAP, FACMG, Jacqueline R. Batanian, PhD, FACMG January 12, 2011

New technology advances in cytogenetic and molecular technology have expanded clinicians' abilities to identity difficult-to-diagnose genetic conditions.

Rare conditions: Where do primary care and genetic diseases intersect?

Sharon F. Terry, MA, Alyson Krokosky, MS November 17, 2010

As knowledge related to rare genetic disorders grows, the role of the primary care provider must change to accommodate such patients.

Ask a Librarian!—June 2010

Jim Anderson, PA-C, ATC, Susan Klawansky, MLS, AHIP June 18, 2010

Have you wondered where to find reliable information about rare genetic disorders or maxillofacial surgery? This month's column provides some foolproof sources.