1/14/2024 0 Comments Pathology definitionThe diagnosis implies a natural history (course of disease, including chronicity, functional impairment, and survival) that most patients with this disease are expected to follow. The pathologic diagnosis represents the best estimate currently possible of the disease entity affecting the patient and is the basis for downstream follow-up and treatment decisions. Obviously, arrival at the correct diagnosis is a function of the examining physician and pathologist (fund of knowledge, experience, alertness), the prevalence of the disease in question in the particular patient (age, race, sex, site), and the sensitivity/specificity of the screening tests used (physical exam, vital signs, blood solutes, tissue stains, genetic assays). The conclusion of the workup generally results in a specific diagnosis, which meets a set of diagnostic criteria, and which explains the patient’s symptoms and phenotypic abnormalities. The differential diagnosis represents the set of possible diagnoses that could account for symptoms and signs associated with the condition of the patient. The ability to rapidly and inexpensively screen for chromosomal translocations, copy number variation, genetic variation, and abundance of mRNA and miRNA is adding substantial molecular correlative information to the workup of diseases. Patient workup uses present illness history with reference to past medical history, review of other organ systems for other abnormalities, review of family history, physical examination, radiographic studies, clinical laboratory studies (for example, peripheral blood or cerebrospinal fluid specimens), and anatomic pathology laboratory studies (for example, tissue biopsy or pleural fluid cytology specimens). These phenotypic (measurable characteristic) abnormalities reflect the interaction of the genotype (cytogenetic and nucleic acid sequence/expression) of the patient and his/her environment. The presentation of a disease to a clinician is in the form of a human patient with variably specific complaints (symptoms), to which the examining physicians can add diagnostic sensitivity and specificity by making observations (screening for signs of diseases). Pathogenesis can refer to the changes in the structure or function of an organism at the gross/clinical level, and it can refer to the stepwise molecular abnormalities leading to changes in cellular and tissue function. This stepwise process of disease development is referred to as its pathogenesis (from the Greek word meaning generation of suffering). Each disease entity develops through a series of mechanistic chemical and cellular steps. One disease entity can have more than one etiology, and one etiology can lead to more than one disease. The cause of the disease is referred to as its etiology (from the Greek word meaning the study of cause). Disease refers to a definable deviation from a normal phenotype (observable characteristics due to genome and environment), evident via patient complaints (symptoms), and/or the measurements of a careful observer (signs). Pathology (from the Greek word pathologĂa, meaning the study of suffering) refers to the specialty of medical science concerned with the cause, development, structural/functional changes, and natural history associated with diseases.
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