Black (African American, West African, Ethiopian, etc.)

Appendicitis

Appendicitis is one of the most common acquired surgical conditions of childhood.  Diagnosis of appendicitis remains difficult.  Much work has been done on validation of clinical scores to reduce the number of unnecessary surgeries and radiographic tests while maintaining a high sensitivity for disease.  However, no score performs well enough in practice to reduce these risks (Kulik et al., 2013).  It is also known that appendicitis has a familial predominance, but little is known about the genetic factors that may increase a certain child's risk for the condition (Oldmeadow et al., 2009). 

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Diverticulosis and Diverticulitis

An algorithm for finding patients with diverticulosis, and of those, patients who also have diverticulitis, and to also find control patients.  Control patients will have had a colonoscopy but have no evidence of diverticula.

Simple NLP (a portable program is posted here, with instructions, and support is availabe from NU as needed) of colonoscopy reports is the gold standard algorithm, but if the text of colonoscopy reports is not available, an alternate algorithm using CPT & ICD-9 codes can be used, which is also posted.

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Herpes Zoster

Herpes zoster, also known as zoster or shingles, is caused by a virus called varicella zoster virus (VZV). Initial infection with the virus causes chickenpox. After chickenpox resolves the virus continues to resides in certain nerve cells. It may remain latent for many years. It may also re-activate, many years later, and cause shingles which is a painful skin rash. How the virus remains latent in the body is not well understood.

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Peanut Allergy

Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes.  Over the last 20-30 years, food allergy has grown into a major public health problem.  Peanut allergy is a common type of food allergy that accounts for a disproportionate number of fatal and near-fatal anaphylactic events amongst all the common food allergens.

Final

PGx medication risk prediction model

This algorithm predicts those who are going to be exposed to warfarin, simvastatin, or clopidogrel as three medications that have known pharmacogenomic influences.  This algorithm was used to select individuals for the Vanderbilt PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment) program, which prospectively tests individuals at risk of needing medications whose efficacy is effected by genetic variants.  

 

For more information on PREDICT, see http://mydruggenome.org.

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Systemic lupus erythematosus (SLE)

We used Vanderbilt’s Synthetic Derivative (SD), a de-identified version of the EHR, with 2.5 million subjects. We selected all individuals with at least one SLE ICD-9 code (710.0) yielding 5959 individuals. To create a training set, 200 were randomly selected for chart review. A subject was defined as a case if diagnosed with SLE by a rheumatologist, nephrologist, or dermatologist.

Final

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