Pathophysiology Quiz

NUR 320 Module 1A

• Course 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 stress and adaptation, and neoplasia

Concepts of Health and Disease - Terminology

• Pathophysiology: the study of the changes in cells, tissues, and organs caused by or causing disease. Changes are both structural and functional.
• Etiology: the cause of a disease
• Pathogenesis: how the disease process evolves
• Morphologic changes: gross and microscopic changes in tissue
• Histology: the study of cells and the extracellular matrix
• Diagnosis: the process of determining the cause of a health problem by weighing possibilities and selecting the most likely one.

Concepts of Health and Disease

• Health is a state of complete physical, mental, and social well-being, and not merely the absence of disease or infirmity (World Health Organization)
• Healthy People 2020 goals:
  • Achieve lives free of preventable diseases, injury, and premature death
  • Achieve health equity and eliminate health disparities
  • Promote good health for all
  • Promote healthy behaviors across the lifespan

Clinical Manifestations (signs and symptoms)

• Some diseases are silent until they are advanced
• Signs and symptoms (S&S) can be related to the primary disorder or the body's response/compensation
• Syndrome: a compilation of signs and symptoms characteristic of a disease
• Complications: adverse extensions of a disease or outcomes of treatment
• Sequelae: lesions or impairments that follow or are caused by a disease

Diagnosis Course

• Designate the cause or nature of a health problem
• Requires careful history, physical exam and diagnostic tests
• Weighs competing factors to select conditions most liable for the clinical situation
• Acute, sub-acute, or chronic course
• Chronic disease: continuous, long-term process
• Chronic diseases can present continuously, or have exacerbations and remissions

Epidemiology and Patterns of Disease

• Epidemiology: study of disease occurrence in human populations
• How disease spreads and how to control and prevent it
• Measures disease frequency (incidence, prevalence)
• Morbidity: functional effects and quality of life
• Mortality: death-producing effects and causes of death

Determining Risk Factors

• Conditions suspected of contributing to disease development
• Inherent factors: examples include hypertension and obesity
• External factors: examples include tobacco and alcohol abuse
• Cross-sectional, case-control, and cohort studies

Natural History and Preventing Disease

• Natural history: disease progression and projected outcome without intervention
• Prognosis: probable outcome and prospect of recovery from a disease
• Three types of prevention: primary, secondary, tertiary

Stress and Adaptation - Homeostasis

• Homeostasis: purposeful maintenance of a stable internal environment through coordinated physiologic processes to oppose change
• Feedback systems: respond to stimuli to maintain homeostasis
• Most body feedback systems are negative (e.g., blood glucose regulation)
• Positive feedback systems: stimulus produces more of the same (e.g., fever increase)

Stress and Adaptation

• Stress contributes directly to disease production/exacerbation and behavior that increases disease risk (e.g., smoking, overeating, drug abuse)
• Stress is a systemic demand on the body (Hans Selye)
• Stressors can be endogenous or exogenous
• Hormones and neurotransmitters respond to stress
• Adaptation: ability to respond to physical or psychological challenges, and return to a balanced state.

General Adaptation Syndrome (GAS)

• Alarm stage: generalized sympathetic nervous system and HPA axis stimulation, release of catecholamines and cortisol
• Resistance stage: the body selects effective channels of defense. Cortisol levels decrease.
• Exhaustion stage: prolonged or overwhelming ability to defend oneself from stress, depleted resources, signs of systemic damage

Coping and Adaptation to Stress

• Coping strategies are specific to the threat
• Coping strategies depend on perception and interpretation of the stressor/event
• Coping depends on nutrition, hardiness, genetics, age, psychosocial factors, and physiologic reserve
• Coping depends on rapidity of adaptation

Disorders of the Stress Response

• Stress response is meant to be acute and time-limited
• Disruptive physical and mental health consequences when chronic
• Chronic stress can induce various health problems:
• Mood disorders
• Eating and sleep disorders
• Diabetes (type 2); HTN
• Infections
• Autoimmune exacerbations
• GI problems; pain
• Obesity
• Eczema
• Cancer
• Atherosclerosis; migraines

Treatment

• Early intervention to find new coping mechanisms
• Avoid harmful coping strategies and find alternative stress-reducing strategies.
• Purposeful priority setting
• Clinical manifestations of acute stress such as: heightened sense of alertness

Chromosomal and Genetic Alterations/Disorders

• Most genetic changes arise from DNA changes, chromosomal errors (deletions or duplications), or abnormal numbers of chromosomes

• Autosomal: transmitted to offspring regardless of sex

• Dominant: 50% chance of transmission; if present, the disorder will occur

• Recessive: both parents must pass on the gene only homozygous are affected

Autosomal Dominant - Marfan Syndrome

• Disorder of connective tissue
• Prevalence: 1 per 5000
• Affects eyes, CV system, skeletal system
• Long, thin body with long extremities, long fingers, hyperextensible joints, kyphosis, pectus excavatum
• Life-threatening CV defects (mitral valve prolapse, aortic dilation, weak aorta and arteries).

Autosomal Recessive - Phenylketonuria (PKU)

• Metabolic disorder (affects 1 in 10,000-15,000 infants in the US)
• Deficiency in the liver enzyme phenylalanine hydroxylase
• Untreated: microcephaly, delayed speech, impaired neurologic development
• Early treatment with a special diet that restricts phenylalanine intake

X-linked

• Sex-linked disorders are almost always associated with the X chromosome
• Male sex chromosomes: XY; Female sex chromosomes: XX
• Predominantly recessive

Chromosomal Disorders

• Account for a large proportion of early miscarriages, congenital malformations, and intellectual disabilities
• Humans have 23 pairs of chromosomes (46 total)
• Chromosomal disorders stem from abnormal chromosome numbers (e.g., aneuploidy) or structural alterations

Non-Disjunction

• Aneuploidy: abnormal number of chromosomes
• Failure to separate during oogenesis or spermatogenesis
• Can affect autosomes or sex chromosomes
• Monosomy or polysomy

Down Syndrome - Trisomy 21

• Three copies of chromosome 21 (47 total chromosomes)
• Most common chromosomal disorder
• Specific physical characteristics at birth
• Risk increases with maternal age

Turner Syndrome

• Absence of all or part of the X chromosome
• Can be 46XX or 45X0
• Approx. 1 in 2,500 live births
• Frequently occurring genetic disorder in women
• Majority of oocytes are lost by age 2
• Do not menstruate, and lack secondary sex characteristics
• Variations in presentation
• Diagnosis delayed until late childhood/early adolescence
• Treatment: growth hormone, estrogen therapy

Klinefelter Syndrome

• Presence of one or more extra X chromosomes (e.g., 47XXY)
• Approx 1 in 700 newborn male infants
• Variable presentation
• Male phenotype retained
• Often undetected at birth
• Management: neurodevelopmental evaluation; androgen therapy for testosterone deficit

Neoplasia

• Neoplasia: new growth
• Cancer is the leading cause of death worldwide from CV diseases
• Influenced by exposure to external and internal factors

Neoplasm

• Abnormal mass of tissue
• Growth exceeds normal, uncoordinated with normal tissues
• Classified as benign or malignant
• Do not obey normal cell growth laws; not well-differentiated
• Serve no useful purpose, named after their tissue type; add "-oma" suffix

Benign versus Malignant Tumors

• Benign: well-differentiated, slow growth, encapsulated, do not metastasize, and usually do not lead to death
• Malignant: less differentiated, rapid growth, not encapsulated, invade and metastasize

Characteristics of Cancer Cells

• Growth: Unregulated vs. Regulated
• Differentiation: Low vs. High
• Genetic stability: Unstable vs. Stable
• Growth factor dependence: Independent vs. Dependent
• Cell-to-cell adhesion: Low vs. High
• Anchorage dependence: Low vs. High
• Cell-to-cell communication: Low vs. High
• Life span: Unlimited vs. Limited
• Antigen expression: May be present vs. Absent
• Substance production (e.g., proteases, hormones): Abnormal vs. Normal
• Cytoskeletal composition: Abnormal vs. Normal

Invasion and Metastasis

• Cancer is crab-like: ability to break loose from primary tumor, invade extracellular matrix, and emerge at a favorable location
• Metastasis occurs through lymph channels and blood vessels

Etiology of Cancer

• Genetic and molecular basis: genetic damage or mutation transforms normally functioning cells into cancer cells; cellular microenvironment
• Host and environmental factors: heredity, hormones, immunologic mechanisms; chemicals, radiation, cancer-causing viruses

Clinical Manifestations

• Every body function is affected by cancer presence
• Initial manifestations usually reflect the primary site of involvement
• Generalized manifestations: fatigue, anorexia, cachexia, anemia, decreased resistance to infections, pain
• Side effects of treatment, further compound these manifestations

Tissue Integrity

• Tumors compress and erode blood vessels = cause ulceration, necrosis, frank bleeding, and hemorrhage
• Tumors produce enzymes and metabolic toxins that destroy surrounding tissues.

Systemic Manifestations

• Not directly related to the tumor itself, but from altered metabolic pathways and/or mediators:
• Wasting syndrome (anorexia and cachexia)
• Hypermetabolic state in a tumor-bearing state
• Fatigue and sleep disorders
• Anemia

Screening

• Secondary cancer prevention measure in asymptomatic populations
• Observation, palpation, lab tests and procedures
• Detect early cancers or pre-malignancies by an effective, cost-efficient test
• Improvement in outcomes demonstrated

Diagnosis – Tumor Markers

• Antigens expressed on the surface of tumor cells or substances released from normal cells in response to cancer
• Used for screening, establishment of prognosis and treatment monitoring
• Example: prostate-specific antigen (PSA) and prostate cancer
• Limitations: not elevated in early malignancy, not specific enough for diagnosis

Diagnosis – Cytology and Histology

• Examining cells and tissues in the lab, sampling approaches:
• Cytologic smears
• Tissue biopsy
• Needle aspirations

Staging and Grading of Tumors

• Grading: Determines cell differentiation of cancer cells (Grades I-IV with increasing lack of differentiation).
• Staging: extent and spread of disease.

TNM Classification System

• TNM system: T (Tumor), N (Nodes), M (Metastasis)

Treatment

• Three categories: curative, control, palliative
• Most common modalities: surgery, radiation, chemotherapy, hormonal therapy, biotherapy.
• Treatment is a planned program combining treatment modalities and interdisciplinary care.

Test your knowledge on the intricacies of pathophysiology in this engaging quiz. Explore various definitions, relationships, and concepts related to health and disease. Perfect for students and professionals looking to solidify their understanding of this critical field.