ER Illness Individual Utilities 
PEMBlog
MARCH 27, 2024
She did her MD/PhD at Columbia University, where she investigated the diagnostic utility of exome sequencing for kidney disease. Meaning that an individual must inherit two copies of the mutation, so one from each of his or her parents, to be affected. And not all IEMs are included on NBS, NBS can miss individuals with IEMs.
GeriPal
APRIL 10, 2025
I asked emergency medicine clinicians what they thought when a patient who is seriously ill and DNR comes to the ED, and some responded, (paraphrasing), what are they doing here? Most emergency providers wanted to do the right thing for seriously ill patients, but they didnt have the knowledge, skills, or experience to do it.
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