Tag Archives: genetics

The Lifespan of Genetic Testing

Genetic testing is now more commonplace in clinical medicine owing largely to improvements in sequencing technology. Genetic results enable greater diagnostic certainty with important prognostic and therapeutic implications. Nevertheless, it is important to consider the longitudinal relationship created between the provider, the patient, and his or her family. This relationship can extend long beyond the […]

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Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis

To the Editor: Systemic amyloidosis results from extracellular deposition of fibrillar material derived from aggregation of precursor proteins into insoluble beta-pleated sheets. The most frequently recognized types are due to prolonged inflammation, deposition of immunoglobulin light chains, and accumulation of transthyretin, a tetrameric protein synthesized in the liver. Transthyretin amyloidosis can occur owing to wild-type […]

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Challenges in Ordering and Interpreting Pharmacogenomic Tests in Clinical Practice

More than 160 US Food and Drug Administration–approved medications have information in their labeling regarding genetic mutations known to be associated with efficacy or safety.1 Not surprisingly, pharmacogenomics is increasingly incorporated into clinical practice in an effort to optimize prescribing to improve treatment outcomes.2, 3, 4, 5 Clinical implementation of pharmacogenomics has been facilitated by efforts to standardize pharmacogenomic-related terminology and […]

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Fabry Disease: An Uncommon Cause of Renal Failure

To the Editor: Fabry disease is an X-linked disorder caused by glycosphingolipid accumulation due to α-galactosidase (GLA) deficiency. Data are limited in patients with Latin American ancestry. We present the case and genetics of a late-diagnosed Fabry disease patient who presented with end-stage renal disease. Case Report A 30-year-old Mexican man without known medical conditions […]

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measuring belly fat with calipers

Impact of Body Mass Index and Genetics on Warfarin Major Bleeding Outcomes in a Community Setting

Several studies have demonstrated an association between body mass index (BMI) and warfarin therapeutic dose, but none evaluated the association of BMI with the clinically important outcome of major bleeding in a community setting. To address this evidence gap, we conducted a case–control study to evaluate the association between BMI and major bleeding risk among […]

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