The American journal of medicine
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Genetic variation can directly cause or increase susceptibility to neurologic diseases. An explosion of new genetic technologies has enabled the characterization of specific genes responsible for many neurologic diseases and has provided fundamentally new insight into their pathophysiology. These advancements, along with recent breakthroughs in gene therapy, are beginning to result in the translation of an individual's genetic sequence into targeted treatment strategies. This review aims to introduce key genetic concepts and to illustrate how these principles apply in cases of rare, single-gene neurologic diseases as well as more common, polygenic diseases that are encountered frequently in clinical practice.
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There are no randomized controlled trials of thrombolytic therapy, pulmonary embolectomy, or inferior vena cava (IVC) filters in patients with unstable pulmonary embolism (those in shock or on ventilator support). Yet, there are many investigations of these treatments based on retrospective cohort studies using administrative data from large government and commercial databases. Extensive data from these cohort studies showed that thrombolytic therapy resulted in the lowest in-hospital all-cause mortality. ⋯ In fact, IVC filters decreased in-hospital all-cause mortality with anticoagulants alone or with pulmonary embolectomy as well as thrombolytic therapy in adults of all ages with unstable pulmonary embolism. The IVC filters reduced mortality only if inserted on the day of admission or the next day, while the patients were unstable and in a fragile condition. We conclude that the best treatment for patients with unstable pulmonary embolism is thrombolytic therapy combined with an IVC filter inserted during the period of fragility, while the patient is unstable, and this treatment is indicated in all unstable patients irrespective of age.
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Catheter-directed therapy (CDT) offers an alternative treatment to systemic thrombolysis for patients with massive and submassive pulmonary embolism. ⋯ CDT for acute massive and submassive pulmonary embolism significantly improves RV/LV ratio at 24-48 hours compared with anticoagulation alone and may lower hospital readmission rates. CDT may be more advantageous in patients with mild to moderate RV dilation.
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Few data exist on the potential utility of a cardiac point-of-care ultrasound (POCUS) examination in the outpatient setting to assist diagnosis of significant cardiac disease. Using a retrospective sequential cohort design, we sought to derive and then validate a POCUS examination for cardiac application and model its potential use for prognostication and cost-effective echo referral. ⋯ A quick-look sign for left atrial enlargement is associated with 5-year mortality and could function as an easily obtained outpatient POCUS examination to help in identifying patients in need of echo referral.
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Randomized Controlled Trial
Altitude Sickness Prevention with Ibuprofen Relative to Acetazolamide.
Acute mountain sickness is a common occurrence for travel to high altitudes. Although previous studies of ibuprofen have shown efficacy for the prevention of acute mountain sickness, recommendations have been limited, as ibuprofen has not been compared directly with acetazolamide until this study. ⋯ Ibuprofen was slightly inferior to acetazolamide for acute mountain sickness prevention and should not be recommended over acetazolamide for rapid ascent. Average symptoms and severity were similar between drugs, suggesting prevention of disease.