The American journal of medicine
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The lymphatic system is essential for maintaining the balance of interstitial fluid in tissues and for returning protein-rich fluids (lymph) to the bloodstream. Congenital lymphatic defects lead to accumulation of lymph in peripheral tissues and body cavities, termed primary lymphedema. To date, only a limited number of individual genes have been identified in association with primary lymphedema. However, variability of age of onset and severity of lymphatic abnormalities within some families suggests that multiple mutations or genes may be responsible, thus hampering efforts to identify individual associated genes. ⋯ WES in lymphedema families can uncover unexpected combinations of several lymphedema-associated mutations. These findings provide essential information for genetic counseling and reveal complex gene interactions in lymphatic developmental pathways. These can offer insights into the complex spectrum of clinical and lymphatic lymphedema phenotypes and potential targets for treatment.
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Patients with liver disease have high rates of early hospital readmission, but there are no studies of effective, scalable interventions to reduce this risk. In this study, we examined the impact of a Physician Assistant (PA)-led post-discharge Transitional Liver Clinic (TLC) on hospital readmissions. ⋯ Patients with liver disease seen in a PA-led TLC may have a significant reduction in the 30-day readmission rate. Randomized trials are needed to establish the efficacy of PA-led post-discharge transitional care for this population.
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Previous studies have shown that sexually transmitted infections (STI) and human immunodeficiency virus (HIV) testing has varied, but STI prevalence was not estimated among patients during their health care visits in which a high-risk sexual partnership was documented. This study estimated gonorrhea, chlamydia, syphilis, and HIV testing rates and chlamydia and gonorrhea prevalence. ⋯ Our study findings of suboptimal STI screening among patient in high-risk sexual relationships are consistent with previous studies. Administrative records confirmed by lab results indicate a need for STI counseling, testing, and treatment among patients who are diagnosed with high-risk sexual relationships with same-sex, opposite-sex, or same-and-opposite sex partners.