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This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...
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Pathophysiology investigates how biological mechanisms—typically starting at the cellular level—disrupt normal bodily functions. It bridges anatomy and physiology to explain the progression of disease. With this foundation, it is important to understand the following key terms used to describe disease processes: Diagnosis:The process of identifying a disease using clinical evaluation, including signs (objective evidence like rashes), symptoms (subjective experiences like...
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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