ALH 120 Human Diseases Exam Practice Flashcards

Comprehensive Question and Answer flashcards covering Introduction to Disease, Inflammation, Immunity, Neoplasia, Chromosomal & Genetic Disorders, and Congenital Defects from ALH 120 Human Diseases.

What is the medical definition of disease?

An altered function or physiology of a body organ or system, characterized by structural or functional changes in the body that are abnormal and harmful to the organism.

Under what homeostatic conditions does disease occur?

Disease occurs when there is a significant disturbance in homeostasis, causing changes in the cell environment such that tissues cannot function optimally.

What is pathology?

The study of disease, including structural and functional changes, causes (etiology), and the sequence of events leading to abnormalities.

How do signs differ from symptoms in disease manifestations?

Signs are objective physical observations or measurements made by an examiner (e.g., temperature, pulse, respiratory rate, blood pressure). Symptoms are subjective experiences reported or felt by the patient (e.g., pain, dyspnea, dizziness).

What components are evaluated to determine a diagnosis?

Signs (from the physical exam), symptoms (from patient history such as chief complaint, past medical history, family, social, and occupational history), and laboratory findings.

What is a prognosis?

A prediction of the outcome of a disease, such as the probability of complete recovery, permanent loss of function, or probability of survival.

Which diagnostic imaging procedure creates cross-sectional body images using computer-analyzed X-ray planes?

Computerized Tomography (CT scan).

How does Magnetic Resonance Imaging (MRI) differ from Computerized Tomography (CT) regarding radiation exposure?

MRI uses a strong magnet and radio frequencies to record tissue characteristics in planes, without using X-rays.

What is a nuclear isotope scan (radionuclide scan)?

A radiologic procedure in which radioactive material is injected into the blood to scan the body for its degree of localization (e.g., a bone scan showing the progression of prostate cancer).

What electrical diagnostic tests are used for the heart and brain, respectively?

An Electrocardiogram (EKG or ECG) traces the electrical activity of the heart, while an Electroencephalogram (EEG) traces the electrical activity of the brain.

What is the difference between therapeutic and palliative disease treatments?

Therapeutic treatment aims for a cure or symptom relief (e.g., surgery, radiation, drugs, nutrition). Palliative treatment offers no cure but focuses on relieving and managing symptoms.

What is inflammation and what are its three primary goals?

Inflammation is the protective response living tissue mounts in response to injury. Its goals are to limit the extent of injury, remove necrotic debris, and prepare the tissue for healing.

What six general agents or factors trigger inflammation?

Allergens, chemical agents (poisons, acids, venoms), physical agents (radiation, temperature extremes), trauma (injury), foreign substances, and pathogenic organisms (bacteria, viruses, fungi).

How does infection differ from inflammation?

Infection is caused by the invasion and multiplication of micro-organisms, whereas inflammation is the body's protective response to infection or tissue injury.

What is septicemia (sepsis)?

A serious, life-threatening condition caused by the body's overwhelming response to infection, leading to uncontrolled inflammation, tissue damage, organ failure, and death.

What are polymorphonuclear leukocytes (PMNs) and what are the specific functions of neutrophils, eosinophils, and basophils?

PMNs are white blood cells with segmented nuclei: Neutrophils compose the greatest number of WBCs and perform phagocytosis; Eosinophils increase during allergic reactions; Basophils contain histamine and migrate into tissue to become mast cells.

What are mononuclear leukocytes, and what do monocytes become when they migrate out of blood vessels?

Mononuclear leukocytes include monocytes (largest WBCs with large nuclei that perform phagocytosis) and lymphocytes. When monocytes migrate out of blood into tissue, they become macrophages.

What are the four sequential stages of the inflammatory process?

1. Histamine release (causing increased permeability and blood flow), 2. Neutrophil exudation, 3. Monocyte exudation, 4. Regeneration and repair.

What are the local cardinal signs and general manifestations of acute inflammation?

Local cardinal signs are redness, swelling, heat, and pain. General manifestations include fever and leukocytosis.

How does chronic inflammation differ cellularly and structurally from acute inflammation?

Chronic inflammation is prolonged with simultaneous exudation and repair, less exudate, absence of neutrophils, presence of macrophages, lymphocytes, and plasma cells, and results in fibrosis (scarring).

What is an abscess?

A localized collection of liquefied dead tissue and neutrophils (purulent exudate).

What is granulomatous inflammation?

An inflammatory response to non-digestible organisms or foreign materials where the indigestible material becomes surrounded by white blood cells and fibrous tissue.

What is non-specific (innate) immunity, and what are its key components?

Innate immunity is present at birth and provides immediate, general protection against any foreign agent. Components include physical and chemical barriers, phagocytosis, natural killer cells, fever, interferon, and inflammation.

What are the two divisions of specific (acquired) immunity and the cell types associated with each?

Humoral Immunity mediated by B lymphocytes (and antibodies) and Cell-Mediated Immunity mediated by T lymphocytes (activated lymphocytes).

Where do B-cells and T-cells mature, and what are the four functional types of T-cells?

B-cells mature in the bone marrow; T-cells mature in the thymus gland. The four types of T-cells are Helper T-cells, Killer (Cytotoxic) T-cells, Suppressor T-cells, and Memory T-cells.

What are the primary locations and functions of IgG, IgA, IgM, IgE, and IgD immunoglobulins?

IgG is most abundant in body fluids and activates complement; IgA is concentrated in mucous membranes, saliva, and tears; IgM is the first antibody made in blood/lymph during new infections and activates complement; IgE binds mast cells in allergic reactions; IgD exists in small amounts in blood and is least understood.

What five actions occur when an antibody binds to an antigen to form an antigen-antibody complex?

Neutralization, precipitation, agglutination, opsonization, and complement fixation.

How do active and passive acquired immunity differ in artificial forms?

Artificial Active immunity is induced by a vaccine (contains weakened, killed, or toxoid/mRNA components), stimulating long-lasting antibody production over time. Artificial Passive immunity involves receiving preformed antibodies (e.g., gamma globulin injection), providing immediate but short-lived protection.

What characterizes Type I Hypersensitivity and systemic anaphylaxis?

Type I Hypersensitivity is an IgE-mediated allergic response causing mast cells to release histamine. Systemic anaphylaxis is a life-threatening reaction marked by low blood pressure, respiratory distress, and swollen airways, requiring treatment with epinephrine and glucocorticoids.

What are examples of Type II, Type III, and Type IV hypersensitivity reactions?

Type II (Cytotoxic): Blood transfusion reactions and Rh incompatibility (Erythroblastosis Fetalis). Type III (Immune Complex): Glomerulonephritis, Farmer's lung, and Rheumatic Fever. Type IV (Cell-Mediated/Delayed): Contact dermatitis, transplant rejection, and PPD tuberculin skin test.

What is autoimmunity?

An intolerance to self in which an individual produces antibodies or immune responses against their own tissues or self-antigens.

What are the demographic features and top five reported symptoms of Systemic Lupus Erythematosus (SLE)?

SLE affects $90\%$ women, commonly diagnosed between ages $15$ and $45$, with higher prevalence in African American, Native American, and Asian populations. Top symptoms: fatigue ($97\%$), painful swollen joints ($92\%$), sleep problems ($87\%$), non-joint pain ($79\%$), and skin rash ($78\%$).

What is the etiology and cellular target of Human Immunodeficiency Virus (HIV)?

HIV is a retrovirus transmitted through blood, semen, vaginal secretions, and breast milk. It attaches to gp120 and CD4 receptors on T-helper lymphocytes, replicates, and destroys the cells.

What CD4 count threshold defines the transition from HIV infection to AIDS?

A CD4 T-cell count falling below $200\,\text{cells/mm}^3$.

What opportunistic fungal infection and malignancy are characteristic of AIDS?

Pneumocystis jirovecii (fungal pneumonia) and Kaposi Sarcoma (malignant skin/internal nodules).

What is Antiretroviral Therapy (ART) and what defines a durably undetectable viral load?

ART uses combinations of different medication classes (e.g., NRTIs like AZT, protease inhibitors, integrase inhibitors) to stop HIV replication. Viral suppression means having fewer than $200$ copies of HIV per mL of blood; maintaining an undetectable viral load for at least $6$ months means the virus cannot be transmitted sexually (Undetectable = Untransmittable).

What are the definitions of hyperplasia, hypertrophy, metaplasia, and neoplasia?

Hyperplasia: increased number of cells. Hypertrophy: increased size of cells. Metaplasia: replacement of one tissue type by another. Neoplasia: increased cell proliferation independent of normal growth-promoting stimuli.

How do benign and malignant neoplasms differ in growth rate, encapsulation, and metastatic potential?

Benign neoplasms are slow-growing, well-defined, encapsulated, resemble origin cells, and do not metastasize. Malignant neoplasms grow rapidly, are invasive with vague borders, exhibit cellular atypia, and metastasize via blood or lymph.

How are benign and malignant tumors named based on tissue of origin?

Benign tumors add suffix "oma" to tissue origin (e.g., Adenoma, Osteoma). Malignant epithelial tumors add suffix "carcinoma" (e.g., Adenocarcinoma). Malignant mesenchymal/connective tissue, bone, or muscle tumors add suffix "sarcoma" (e.g., Osteosarcoma). Exceptions that are always malignant include Melanoma, Lymphoma, and Glioma.

What are the top two risk factors for cancer, accounting for the highest percentage of cases?

Tobacco/Smoking ($31\%$) and Diet/Obesity ($31\%$). A primary carcinogen in tobacco tar is benzopyrene.

What chromosomal abnormality causes Down Syndrome, and what are its key features?

Trisomy 21 (three copies of chromosome 21). Features include flattened face/nose, almond-shaped eyes, short stocky stature, mental deficiency, heart defects, sub-par immune system, and early predisposition to Alzheimer's dementia.

What chromosomal abnormalities cause Klinefelter's Syndrome and Turner's Syndrome?

Klinefelter's Syndrome is Trisomy 23 (XXY male), presenting with tall stature, lack of male sexual development, gynecomastia, and sterility. Turner's Syndrome is Monosomy 23 (single X female), presenting with short stature, broad neck, lack of breast development, and sterility with normal intellect.

What is the genetic inheritance mechanism and probability for autosomal recessive diseases when two carriers mate?

Autosomal recessive diseases require two recessive alleles ($bb$) to express the abnormal trait. When two heterozygous carrier parents ($Bb$) mate, there is a $25\%$ chance of an unaffected child ($BB$), a $50\%$ chance of carrier children ($Bb$), and a $25\%$ chance of an affected child ($bb$).

What are three examples of autosomal recessive diseases and their basic pathologies?

Cystic Fibrosis (abnormal ion concentration causing thick mucus that impairs lung/pancreas function), Sickle Cell Anemia (fragile, sickled RBCs causing vasoocclusive crisis and pain), and Phenylketonuria / PKU (missing enzyme to metabolize phenylalanine, leading to toxicity that impairs brain development).

How are sex-linked recessive diseases inherited?

The defective allele is transmitted from a carrier mother to her son on the X chromosome of the 23rd pair (e.g., Hemophilia, Duchenne's Muscular Dystrophy, Color Blindness).

What defines a congenital defect and how does it differ from a genetic/chromosomal disease?

A congenital defect is a structural or functional anomaly occurring during intrauterine development due to teratogens, environmental factors, or infections (e.g., Thalidomide defect, Fetal Alcohol Syndrome, Hydrocephalus). Unlike genetic/chromosomal diseases, congenital defects are NOT passed on to future generations.

How is disease defined in the lecture notes?

An altered function or physiology of a body organ or system, representing an abnormal structural or functional change that is harmful to the organism.

When does disease occur in relation to homeostasis?

Disease occurs when there is a significant disturbance in homeostasis, causing changes in the cellular environment so that tissues cannot function optimally.

What is the primary difference between signs and symptoms?

Signs are objective physical observations or measurements made during an exam (such as temperature, pulse, respiratory rate, and blood pressure), whereas symptoms are subjective feelings or perceptions reported by the patient (such as pain, dizziness, or dyspnea).

What components are evaluated as part of a patient's medical history?

Chief Complaint, Past Medical History, Family History, Social History, and Occupational History.

What is the difference between diagnosis and prognosis?

Diagnosis evaluates manifestations (signs, symptoms, lab findings) to identify the specific disease process, while prognosis predicts the outcome of the disease, such as the likelihood of complete recovery, permanent loss of function, or survival probability.

How does Computerized Tomography (CT scan) work?

An X-ray beam passes through planes of body tissues and is analyzed by a computer to create cross-sectional images.

How does Magnetic Resonance Imaging (MRI) differ from CT scanning regarding radiation?

MRI uses a magnet and radio frequencies to record tissue characteristics in planes and does not utilize X-rays.

How is a Nuclear Isotope Scan (Radionuclide Scan) performed?

Radioactive material is injected into the blood, and the body is scanned to determine the degree of localization (for example, a bone scan evaluating the progression of prostate cancer).

What mechanism does diagnostic medical ultrasound use to produce images?

It measures the reflection of high-frequency sound waves as they pass through body tissues.

What electrical activities are measured by an EKG/ECG versus an EEG?

An EKG/ECG traces the electrical activity of the heart, whereas an EEG traces the electrical activity in the brain.

What is the definition and primary goal of inflammation?

Inflammation is the protective response living tissue mounts in response to injury. Its goals are to limit the extent of injury, remove necrotic debris, and prepare the tissue for healing.

What six categories of agents can trigger inflammation?

Allergens, pathogenic organisms (bacteria, viruses, fungi), chemical agents (poisons, acids, venoms), physical agents (radiation, temperature extremes), trauma (injury), and foreign substances.

How is infection distinguished from inflammation?

Infection is caused by the invasion and multiplication of micro-organisms, whereas inflammation is the body's protective response to infection or injury.

What is septicemia (sepsis)?

A serious, life-threatening condition caused by the body's overwhelming response to infection, leading to uncontrolled inflammation, tissue damage, organ failure, and death.

What are the four stages of the inflammatory process?

1. Histamine released (increasing permeability and blood flow); 2. Neutrophil exudation; 3. Monocyte exudation; 4. Regeneration & Repair.

What are the cardinal local signs of acute inflammation?

Redness, swelling, heat, and pain.

How do leukocyte populations differ between acute and chronic inflammation?

Acute inflammation is characterized by neutrophils, whereas chronic inflammation involves monocytes (macrophages), lymphocytes, and plasma cells, but no neutrophils.

What is the difference between tissue regeneration and repair?

Regeneration replaces destroyed tissue with the same kind of cells, whereas repair involves collagen fiber contraction resulting in scar tissue (fibrosis).

What is an abscess?

A localized collection of liquefied dead tissue and neutrophils (purulent exudate).

What components make up non-specific (innate) immunity?

Physical & chemical barriers, phagocytosis, natural killer cells, fever, interferon, and inflammation.

What are the two main arms of specific (acquired) immunity and their primary cells?

Humoral Immunity (mediated by B lymphocytes and antibodies) and Cell-Mediated Immunity (mediated by T lymphocytes).

Where do B-cells and T-cells mature in the human body?

B-cells mature in the bone marrow, while T-cells mature in the thymus gland.

What are the primary functions of Helper T-cells and Suppressor T-cells?

Helper T-cells stimulate B-cells and killer T-cells; Suppressor T-cells turn off immune responses.

Which immunoglobulin is the most abundant and protects against bacterial and viral infections in all body fluids?

IgG.

Which immunoglobulin is the first to be made by the body to fight a new infection?

IgM.

Which immunoglobulin is associated mainly with allergic reactions by attaching to mast cells?

IgE.

How do active artificial immunity and passive artificial immunity compare in onset and duration?

Active artificial immunity (vaccines) takes time to form antibodies but offers long duration; passive artificial immunity (gamma globulin injections) acts immediately but is short-lived.

What mechanism causes Type I Hypersensitivity reactions?

Interaction of allergens with IgE bound to mast cells triggers the release of histamine and other inflammatory mediators.

What are two examples of Type II (Cytotoxic) Hypersensitivity?

Blood transfusion reactions and Rh incompatibility (Erythroblastosis Fetalis).

What characterizes Type IV (Cell-Mediated / Delayed) Hypersensitivity?

It involves a T-lymphocyte response to an antigen that is slow to develop after initial sensitization (examples include contact dermatitis, transplant rejection, and the tuberculin/PPD test).

What is autoimmunity?

An intolerance to self, where individuals develop antibodies against their own tissues or self-antigens.

What demographic accounts for 90% of Systemic Lupus Erythematosus (SLE) cases?

Women (most commonly diagnosed between 15 and 45 years of age).

How does HIV infect and destroy the immune system?

The HIV virus attaches via gp120 to the CD4 receptor on T-helper lymphocytes, replicates, kills the CD4 cell, and prevents T-helpers from activating B-cells, destroying overall immune function.

At what CD4 cell count threshold is a patient considered to have progressed to AIDS?

When CD4 cells fall below $200\,\text{cells/mm}^3$.

What fungal opportunistic infection is frequently seen in AIDS patients?

Pneumocystis Jirovecii (formerly known as Pneumocystis Carinii).

What cutaneous malignancy is characteristically associated with AIDS?

Kaposi Sarcoma.

What defines 'viral suppression' and 'durably undetectable' in HIV care?

Viral suppression means having less than 200 copies of HIV per milliliter of blood. Durably undetectable means the viral load remains undetectable for at least six months after the first undetectable test result.

How do hyperplasia, hypertrophy, and metaplasia differ?

Hyperplasia is an increase in the number of cells, hypertrophy is an increase in the size of cells, and metaplasia is the replacement of one tissue type by another.

How are benign and malignant epithelial tumors named?

Benign epithelial tumors add the suffix '-oma' to the tissue of origin (e.g., Adenoma), while malignant epithelial tumors add '-carcinoma' (e.g., Adenocarcinoma).

What suffix is used to name malignant tumors of connective tissue, bone, muscle, or cartilage?

The suffix '-sarcoma' (e.g., Osteosarcoma).

What are three examples of malignant tumors that end in '-oma'?

Melanoma, Lymphoma, and Glioma.

Which two risk factors each account for 31% of cancer cases according to the etiology charts?

Tobacco and Smoking (31%) and Diet and Obesity (31%).

What specific carcinogen found in tar is named in the Neoplasia lecture?

benzopyrene.

How do alkylating agents and antimetabolites differ in their chemotherapy actions?

Alkylating agents (such as Cytoxan) directly damage DNA to prevent cancer cell reproduction, whereas antimetabolites (such as 5-FU) substitute for normal building blocks to interfere with DNA and RNA growth.

What is a karyotype?

A complete chromosomal composition chart used to detect numerical or structural abnormalities.

What chromosomal condition causes Down Syndrome?

Trisomy 21 (having 3 copies of chromosome 21).

What are the genetic compositions of Klinefelter's Syndrome and Turner's Syndrome?

Klinefelter's Syndrome is Trisomy 23 with an XXY male genotype; Turner's Syndrome is Monosomy 23 with a single X female genotype.

Under what genetic pairing condition do autosomal recessive diseases occur?

They occur when both inherited alleles are recessive, most commonly when two heterozygous carrier parents mate.

What enzyme deficiency causes Phenylketonuria (PKU) and what is its pathophysiology?

PKU is caused by a missing enzyme that metabolizes phenylalanine, leading to a buildup of phenylalanine and derivatives that causes toxicity affecting newborn brain development.

How are sex-linked recessive diseases transmitted?

The defective allele is transmitted from mother to son on the X chromosome of the 23rd pair.

How do congenital defects differ fundamentally from inherited chromosomal and genetic diseases?

Congenital defects occur during intrauterine development and are present at birth, but they are NOT passed on to future generations.