Genetics
- Pharmacogenomics: An evolving clinical tool for precision medicine
More than 90% of patients are thought to carry at least 1 genetic variant that should prompt a change in dosing or medication.
- Sickle cell disease: A primary care update
Survival has improved, but patients still face multiorgan damage, chronic anemia, and debilitating pain crises.
- Gene therapy in sickle cell disease: Possible utility and impact
CRISPR-Cas9 makes it possible to edit the patient’s own genes, but questions remain.
- Cardio-obstetrics: Recognizing and managing cardiovascular complications of pregnancy
Pregnancy can exacerbate known cardiovascular disorders and unmask previously unrecognized problems.
- Modifying genetic diseases: Promises to be realized?
Genetic engineering offers hope to patients and families who previously had little.
- Pediatric cholestatic liver disease: Successful transition of care
Many more children with liver disease are surviving into adulthood and transitioning to adult care.
- Laboratory tests in rheumatology: A rational approach
Negative results are not always reassuring, and false-positive results pose risks.
- When stroke runs in the family
CADASIL—cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy—is due to a mutation in NOTCH3.
- Bicuspid aortic valve: Basics and beyond
What further testing does this 34-year-old patient need? Can he play sports? Does his newborn son need evaluation?