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Questions and Answers
What is the study of the changes of cells, tissues, and organs of the body that cause or are caused by disease or pathological changes?
What is the study of the changes of cells, tissues, and organs of the body that cause or are caused by disease or pathological changes?
Pathophysiology
What is the term for the cause of disease?
What is the term for the cause of disease?
Etiology
What term refers to the process of how a disease evolves?
What term refers to the process of how a disease evolves?
Pathogenesis
What term refers to the gross and microscopic changes of tissue?
What term refers to the gross and microscopic changes of tissue?
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What is the study of the cells and extracellular matrix?
What is the study of the cells and extracellular matrix?
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What is developed by weighing possibilities and selecting the most likely one responsible for the cause of the health problem?
What is developed by weighing possibilities and selecting the most likely one responsible for the cause of the health problem?
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According to the World Health Organization Constitution (2011) , what is defined as a "state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity."
According to the World Health Organization Constitution (2011) , what is defined as a "state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity."
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What are the changes to the body due to a stressor?
What are the changes to the body due to a stressor?
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What are the three stages of GAS?
What are the three stages of GAS?
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What are the three types of prevention?
What are the three types of prevention?
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What is the name of the disorder of connective tissue?
What is the name of the disorder of connective tissue?
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What is the most common chromosomal disorder?
What is the most common chromosomal disorder?
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What is the name of the disorder characterized by the absence of all or part of the X chromosome?
What is the name of the disorder characterized by the absence of all or part of the X chromosome?
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What is the name of the disorder characterized by the presence of one or more extra X chromosomes in excess of normal XY?
What is the name of the disorder characterized by the presence of one or more extra X chromosomes in excess of normal XY?
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What is the leading cause of death worldwide, second only to cardiovascular disease?
What is the leading cause of death worldwide, second only to cardiovascular disease?
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Cancer cells are well-differentiated and clustered together in a single mass.
Cancer cells are well-differentiated and clustered together in a single mass.
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Cancer cells typically obey the laws of normal cell growth.
Cancer cells typically obey the laws of normal cell growth.
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Benign tumors can spread distantly (metastasis).
Benign tumors can spread distantly (metastasis).
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Malignant tumors grow rapidly.
Malignant tumors grow rapidly.
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Normal cell growth is regulated.
Normal cell growth is regulated.
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Cancer cells have a limited life span.
Cancer cells have a limited life span.
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The genetic stability of cancer cells is unstable.
The genetic stability of cancer cells is unstable.
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Cancer cells are typically dependent on growth factor dependence.
Cancer cells are typically dependent on growth factor dependence.
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Cancer cells have a high mitotic index.
Cancer cells have a high mitotic index.
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Cancer cells have a high cell-to-cell adhesion ability.
Cancer cells have a high cell-to-cell adhesion ability.
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Cancer cells have high anchorage dependence.
Cancer cells have high anchorage dependence.
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Cancer cells have a normal level of antigen expression.
Cancer cells have a normal level of antigen expression.
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Cancer cells have a normal level of substance production.
Cancer cells have a normal level of substance production.
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Cancer cells have a normal cytoskeletal composition and arrangement.
Cancer cells have a normal cytoskeletal composition and arrangement.
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Study Notes
NUR 320 Module 1A
- Course name: NUR 320
- Module name: Module 1A
- Instructor: Mary Rose Gaughan, PhD, RN, CNE
- University: D'Youville University
Agenda
- Introductory topics for pathophysiology
- Concepts of health and disease
- Stress and adaptation
- Chromosomal and genetic alterations/disorders
- Neoplasia – benign and malignant
Today's Objectives
- Define selected terminology
- Introduce concepts of health and disease
- Discuss genetic disorders
- Describe the following concepts: stress and adaptation, neoplasia
Concepts of Health and Disease - Terminology
\
Pathophysiology – study of the changes of cells, tissues, and organs of the body that cause
or are caused by disease or pathological changes. Changes are both structural and
functional.
Etiology – cause of disease
Pathogenesis – how the disease evolves
Morphologic changes – gross and microscopic changes of tissue
Histology – study of the cells and extracellular matrix
Diagnosis – developed by weighing possibilities and selecting the most likely one
responsible for the cause of the health problem.
Concepts of Health and Disease
- Health: State of complete physical, mental, and social well-being; not merely the absence of disease.
- Healthy People 2020: Attain lives free of preventable disease, injury, and premature death; achieve health equity and eliminate disparities; promote good health for all across the lifespan.
Clinical Manifestation (signs and symptoms)
- Signs and symptoms: Some diseases are silent until advanced. Signs and symptoms can be related to a primary disorder or the body’s response/compensation for the disease.
- Syndrome: Collection of signs and symptoms characteristic of a disease.
- Complications: Adverse extensions of a disease or outcomes of treatment.
- Sequelae: Lesions or impairments following or caused by disease
Diagnosis Course
- Designation: Nature or cause of a health problem.
- Requires: Careful history, physical exam, diagnostic tests.
- Weighs competing factors: Select non-contributing conditions.
- Acute, sub-acute, or chronic course: Spectrum of infectious disease severity. Chronic disease implies a continuous, long-term process with possible exacerbations and remissions.
Epidemiology and Patterns of Disease
- Epidemiology: Study of disease occurrence in human populations.
- Disease spread and prevention: How a disease spreads and methods of preventing and eliminating it.
- Measures of disease frequency: Incidence and prevalence.
- Morbidity: Functional effects of a disease; quality of life.
- Mortality: Death producing effects, causes of death.
Determining Risk Factors
- Conditions suspected of contributing to disease development: Inherent (e.g., HTN, obesity) and external (e.g., tobacco or alcohol use).
- Studies to determine risk factors: Cross-sectional, case-control, and cohort studies.
Natural History and Preventing Disease
- Natural history: Progression and predicted outcome of a disease without intervention.
- Prognosis: Probable outcome and prospect of recovery from a disease, often expressed as the likelihood of full recovery (e.g., < 50%).
- Prevention types: Primary (remove risk factors), Secondary (early detection and treatment), and Tertiary (reduce complications and prevent further deterioration).
Stress and Adaptation - Homeostasis
- Homeostasis: Purposeful maintenance of a stable internal environment.
- Feedback systems: Response to stimuli to return to homeostasis. Most are negative feedback, opposing change. Positive feedback systems increase a stimulus.
- Examples of feedback: Insulin release in response to blood glucose levels, increased respiratory rate, or increased body temperature when exposed to heat.
Stress and Adaptation
- Contribution to disease: Stress directly facilitates disease or increases disease risk factors (e.g., smoking).
- Specific syndrome: Stress is a state manifested by a body's specific response to intense systemic demand. Hans Selye.
- Types of stressors: Endogenous and exogenous.
- Hormonal, neurotransmitter response to stress: Alert stressors, regulate cardiovascular and metabolic activity. Suppress other systems.
- Adaptation: Ability to return to a balanced state after physical or psychological challenges.
General Adaptation Syndrome (GAS)
- Three stages: Alarm, resistance, exhaustion.
- Alarm stage: Generalized stimulation of the sympathetic nervous system, release of catecholamines and cortisol.
- Resistance stage: Body selects the most effective and economic channels of defense, cortisol decreases.
- Exhaustion stage: Prolonged or overwhelming inability to defend. Depeleted resources, systemic damage might appear.
Coping and Adaptation to Stress
- Environmental impact: Living organisms do not passively submit to environmental forces.
- Technology's role in adaptation: Technology aids and challenges adaptation (e.g., antibiotics).
- Stress responses: Specific to the threat, determined by individual perception and interpretation of the stressor.
- Dependent factors: Nutrition, hardiness, genetics, age, psychosocial factors, physiological reserve, and sleep-wake cycles.
Disorders of the Stress Response
- Acute vs. chronic stress response: Acute is temporary; chronic is disruptive to physical and mental health.
- Induced health problems: Mood disorders, eating and sleep disorders, diabetes, hypertension, infections, autoimmune exacerbation, GI problems, pain, obesity, eczema, cancer, atherosclerosis, migraines.
- Frequency, chronic nature stress: Factors determining stress response availability and efficiency; traumatic events increase norepinephrine.
Treatment
- Early intervention: Adapting to new, effective coping mechanisms to manage stress.
- Alternative coping methods: Avoid health-risk coping mechanisms when possible and encourage alternative stress reducers (e.g., relaxation).
- Comprehensive approach: Treatment combining several modalities, often including multiple disciplines.
Chromosomal and Genetic Alterations/Disorders
- Causes: DNA changes, chromosomal errors (deletion or duplication).
- Classification: Dominant, recessive, autosomal, sex-linked.
- Dominant: 50% chance of inheritance, disorder occurs with gene presence.
- Recessive: Both parents must pass on gene for homozygous individuals to be affected.
Autosomal Dominant Syndrome - Marfan
- Connective tissue disorder
- Prevalence: 1/5000
- Affects eyes, cardiovascular, and skeletal systems
- Physical features: Long, thin body with long extremities, tapering fingers, hyperextendable joints and other problems.
- Life-threatening cardiovascular defects like mitral valve prolapse, aortic dilation and weakened arteries.
Autosomal Recessive - Phenylketonuria (PKU)
- Metabolic disorder
- Prevalence: 1/10000-15000 infants in the US
- Deficiency of the liver enzyme phenylalanine hydroxylase
- Toxic build-up of phenylalanine can impair brain development
- Treatment: Special diet restricting phenylalanine intake
X-linked
- Characteristics: Almost always associated with the X chromosome, Male sex chromosomes: XY, Female sex chromosomes: XX. Primarily recessive inheritance.
Chromosomal Disorders
- Large proportion of early miscarriages, congenital malformations, and intellectual disabilities
- Humans have 23 pairs of chromosomes, a total of 46 chromosomes
- Abnormalities cause disease: abnormal numbers (aneuploidy) or structural alterations.
Non-disjunction
- Aneuploidy: Abnormal number of chromosomes due to a failure of separating during oogenesis or spermatogenesis (sex or autosomes).
- Consequences: Monosomy (1 copy) or polysomy (extra copies).
Down Syndrome - Trisomy 21
- Three copies of chromosome 21
- Most common chromosomal disorder
- Physical characteristics: Epicanthal folds, slanted eyes and flat facial profile, malformed ears, congenital heart disease (CHD), intestinal malformations, etc.
- Risk increases with maternal age.
- Prenatal screening tests to assess risk.
Turner Syndrome
- Absence of all or part of the X chromosome
- Features: Short stature, broad chest with widely spaced nipples, poor breast development, ovarian dysgenesis (failure of ovaries to develop), amenorrhea, hormone deficiencies, infertility, lymphedema,etc.
- Lose majority of oocytes by age 2.
- Variations in presentation: phenotypic and developmental delays.
- Diagnosis: Late childhood, early adolescence.
- Treatment: Growth hormone therapy and estrogen therapy.
Klinefelter Syndrome
- Presence of one or more extra X chromosomes
- Most have one extra X Chromosome (47 XXY)
- Characteristics: Variable presentation, male phenotype and usually undetected at birth, tall stature, gynecomastia, wide hips, decreased pubic hair, long arms and legs, infertility, testicular atrophy, etc.
- Management: Neurodevelopmental evaluation and androgen therapy for testosterone deficiency.
Neoplasia
- Neoplasia: New growth
- Leading cause of death: Worldwide, second only to cardiovascular disease
- Factors influencing survival: Type of cancer, stage at diagnosis, type of treatment, and external and internal factors.
Neoplasm (types of tumors)
- Abnormal mass of tissue growth, disobeying normal cell growth laws, and not well-differentiated.
- Benign: Well-differentiated, clustered, localized, often encapsulated, slower growth, rarely lethal, does not spread to other areas.
- Malignant: Less differentiated, poorly differentiated, invasive, not encapsulated, rapid growth, often lethal, can spread (metastasis) to other parts of the body.
Benign vs. Malignant Tumors
- Benign: Grow slowly, well-defined capsule, not invasive, well-differentiated, low mitotic index, don't metastasize.
- Malignant: Grow rapidly, not encapsulated, invasive, poorly differentiated, high mitotic index, can metastasize.
Characteristics of Cancer Cells
- Cancer cell growth is unregulated or uncontrolled.
- Cancer cells' genetic stability is unstable (versus normal cells' stable genetics)
- Cells' differentiation is often low.
- Growth factor dependence is independent.
Invasion and Metastasis
- Metastasis: Spreading of cancer cells from the primary tumor to other parts of the body. Mechanisms include moving through lymph channels and blood vessels.
- Requires breaking away from the primary tumor, invading surrounding tissues (extracellular matrix), and establishing a new blood supply.
Etiology of Cancer
- Genetic and molecular basis: Genetic damage or mutations transform normal cells into cancer cells, cellular microenvironment plays a role.
- Host and environmental factors: Hereditary, hormones, immunologic mechanisms, environmental factors like chemicals, radiation and cancer causing viruses.
Clinical Manifestations of Cancer
- Early indicators: Often reflect primary involvement site (e.g., infections, fatigue, anorexia, pain, cachexia, anemia).
- General manifestations: Symptoms across more body systems.
- Factors like side effects of treatment compound symptoms.
Tissue Integrity
- Compromised tissue integrity: Cancer cells compress and erode blood vessels, causing ulceration, necrosis, and frank bleeding or hemorrhage.
- Metabolic toxins: Cancer cells produce enzymes and metabolic toxins destroying surrounding tissues.
- Delayed healing: Cancer affected areas heal abnormally.
Systemic Manifestations of Cancer
- Altered metabolic pathways: Not directly related to tumor mass, affecting whole-body functions.
- Wasting syndrome: Anorexia, cachexia, hypermetabolic state.
- Fatigue and sleep disorders: Can indicate early cancer involvement.
- Anemia: Blood loss, hemolysis, impaired RBC production.
Screening
- Secondary prevention: Identifying cancer in asymptomatic populations.
- Methods: Observation, palpation, lab tests, and procedures.
- Tests: Breast (mammography), cervical (Pap), colon and rectum (rectal exam, FOB, colonoscopy), prostate (PSA, transrectal US), and melanoma (self-examination).
Diagnosis - Tumor Markers
- Antigens: Substances released by tumor cells or normal cells in response to cancer.
- Use: Screening, establishing prognosis, monitoring treatment, detection of recurrent disease.
- Limitations: Elevated in later, not always early stages—often not specific or accurate for determining malignancy.
Diagnosis – Cytology and Histology
- Examination of cells and tissues.
- Sampling options: Cytologic smears, tissue biopsies, and needle aspirations.
Staging and Grading of Tumors
- Grading: Examination of cancer cells for differentiation levels (I, II, III, IV—increasing lack of differentiation).
- Staging: Extent and spread of disease, (e.g., presence or absence of metastasis, tumor size in TNM classification).
TNM Classification System
- T (Tumor): Describes the size and involvement.
- N (Nodes): Node involvement (regional lymph nodes—no, involvement).
- M (Metastasis): Presence of distant metastasis, specified site(s).
Treatment
- Three categories: Curative, control, palliative.
- Modalities: Surgery, radiation, chemotherapy, hormonal therapy, and biotherapy.
- Treatment approach: Combines multiple treatments, coordinated across interdisciplinary teams.
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Description
This quiz covers introductory topics in pathophysiology for NUR 320, focusing on fundamental concepts of health and disease. You will explore key terms such as pathophysiology, etiology, and the impact of genetic disorders. Test your knowledge on stress adaptation and neoplasia, both benign and malignant.
