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Extra info for USMLE Step 1 Lecture Notes 2016: Pathology
Embolism is used for any intravascular mass (solid, liquid, or gas) that has been carried downstream from its site of origin, resulting in occlusion of a vessel. Most emboli are thromboemboli, but many other materials have also formed emboli. Pulmonary emboli are a common form of emboli that are often clinically silent but can cause infarction or sudden death. Most pulmonary emboli arise from deep vein thromboses. Systemic arterial emboli usually arise in the heart and may cause infarction in a variety of sites, depending upon where they lodge.
CF Carrier CF Patient Homozygous Normal Diagnosis can be established with a sweat test (elevated NaCl) or DNA probes. Due to improved therapies, some patients live into their forties, but with this increase in longevity there has been an increase in liver disease. Patients succumb to pulmonary disease. The 3 most common pulmonary infections are S. aureus, H. influenzae, and P. aeruginosa. Lung transplantation is a treatment option. Patients infected with Burkholderia cepacia complex who undergo transplant have a worse prognosis.
The location of a mutation will alter its potential effects. Mutations involving coding regions of DNA may result in abnormal amino acid sequences; decreased production of the protein; truncated or abnormally folded protein; or altered or lost function of the protein. Mutations of promoter or enhancer regions may interfere with transcription factors, resulting in decreased transcription of the gene. Patterns of inheritance for genetic diseases show wide variation, and the genetic pattern of a disease may be classified as autosomal dominant; autosomal recessive; X-linked recessive; X-linked dominant; triplet repeat mutations; genomic imprinting; mitochondrial; or multifactorial.