Seminars in respiratory and critical care medicine
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The use of neuroimaging in conjunction with serial neurological examinations is a core component of modern neurocritical care practice. Although there is a growing role for other neuromonitoring techniques, the ability to quickly and accurately interpret images in the context of a patient's clinical status arguably remains the indispensable skill for neurocritical care practitioners. Due to its rapid acquisition time and excellent ability to detect intracerebral hemorrhage (ICH), cerebral edema, and signs of elevated intracranial pressure, computed tomography (CT) remains the most useful neuroimaging technique for intensive care unit (ICU) patients. ⋯ Finally, as in the field of critical care as a whole, formal and point-of-care ultrasound studies are increasingly utilized in the NICU, and are an important tool in the neurointensivist's armamentarium. We review here the common applications of imaging in the neurocritical care setting. As ICU patients are frequently unstable and their risk of clinical decompensation increases substantially during transport away from the ICU, guidelines and recommendations for maximizing patient safety during transport to radiology studies are also explored.
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Tremendous progress has been made in understanding the genetics of pulmonary arterial hypertension (PAH) since its description in the 1950s as a primary disorder of the pulmonary vasculature. Heterozygous germline mutations in the gene coding bone morphogenetic receptor type 2 (BMPR2) are detectable in the majority of cases of heritable PAH, and in approximately 20% of cases of idiopathic pulmonary arterial hypertension (IPAH). ⋯ Biallelic germline mutations in the gene EIF2AK4 are now associated with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. Growing genetic knowledge enhances our capacity to pursue and provide genetic counseling, although the issue remains complex given that the majority of carriers of PAH-related mutations will never be diagnosed with the disease.