Pathophysiology Exam 1 Study Guide

Introduction to Pathophysiology 1

• Pathophysiology studies abnormalities in physiological functions, revealing the body's responses to environmental disruptions.
• Key factors affecting individual disease presentation include health structure and function.
• Four topics in pathophysiology: Etiology, Pathogenesis, Clinical manifestations, Treatment implications.
• Most diseases are multifactorial, influenced by various risk factors.
• Iatrogenic causes result from medical treatment, exemplified by chemotherapy-induced hair loss.
• Not every exposed individual contracts a disease, indicating variable susceptibility.
• The immune system is an intercellular communication network.
• Pathogenesis refers to disease evolution from initial stimulus to manifestation.
• Etiology classifies disease causes as idiopathic (unknown) or iatrogenic (treatment-related).

Clinical Manifestations

• Signs are objective clinical manifestations; symptoms are subjective.
• Example of a symptom: headache; observable signs include enlarged lymph nodes.
• Latent period: time until signs/symptoms appear; prodromal period: onset of first signs/symptoms.
• Acute phase: disease's peak intensity; remission: decrease in severity; exacerbation: sudden increase in severity.
• Sequela: subsequent pathological condition following an illness.

Genetic Disorders

• Four groups of genetic disorders are normal, chromosomal abnormalities, single gene disorders, and multifactorial conditions.
• Chromosomal abnormalities often result from aneuploidy, a deviation from the normal chromosome number.
• Examples of aneuploidy include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).
• Sex chromosome aneuploidies: Turner syndrome (XO) and Klinefelter syndrome (XXY).
• Cri du Chat Syndrome results from a deletion in chromosome 5.
• Marfan Syndrome is an autosomal dominant disorder affecting connective tissue.

Neoplasia

• Neoplasia refers to "new growth" of cells, categorized as malignant (cancerous) or benign (non-cancerous).
• Tumor suffix "-oma" usually indicates benign growth, while terms like "carcinoma" indicate malignancy.
• Cancer is the second leading cause of death in the U.S.
• Carcinogenesis involves three steps: initiation, promotion, and progression.
• Tumor markers, like PSA for prostate cancer and CA-125 for ovarian cancer, help identify cancer origin.

Inflammation and Immunity

• The immune system comprises white blood cells and various inhibitors and mediators.
• Monocytes originate from bone marrow and mature into macrophages upon migrating to tissues.
• T cells mature in the thymus; B cells mature in the bone marrow and produce antibodies.
• Adaptive immunity consists of humoral (B cells) and cell-mediated (T cells) responses.
• Major histocompatibility complex (MHC) proteins present antigens to T cells.

Immune Function Alterations

• Inappropriate immune responses can be classified into autoimmune and hypersensitivity disorders.
• Autoimmune diseases are more prevalent in females than males.
• Hypersensitivity is an exaggerated immune response, divided into four types.
• Type I hypersensitivity triggers immediate reactions through IgE antibodies, occurring shortly after exposure.
• Type II hypersensitivity, or tissue-specific reactions, involve IgG or IgM antibodies.
• Persistent asthma is a form of Type IV hypersensitivity, leading to chronic inflammation.

Summary of Immune Responses

• Primary immune deficiencies include genetic disorders like Wiskott-Aldrich Syndrome.
• HIV/AIDS primarily decreases T cell counts, resulting in increased susceptibility to infections.
• The deletion of chromosome 22 is associated with DiGeorge Syndrome.