![]() ![]() The differential diagnosis represents the set of possible diagnoses that could account for symptoms and signs associated with the condition of the patient. As you will see from other chapters in this book, 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 CSF 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. ![]() Pathogenesis can refer to the changes in the structure or function of an organism at the gross/clinical level and the stepwise molecular abnormalities leading to changes in cellular and tissue function. This stepwise process of disease development is referred to as its pathogenesis. ![]() The cause of the disease is referred to as its etiology. Pathology refers to the specialty of medical science concerned with the cause, development, structural/functional changes, and natural history associated with diseases. It describes some key terms, definitions, and concepts, presents historical human approaches to diseases, and provides an overview of current diagnostic practice and a vision for new interface with applied molecular biology. This chapter discusses the fundamental concepts, terminology, and practice of pathology as the discipline dedicated to the understanding of causes, mechanisms, and effects of diseases.
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