NUR 320 Module 1A Pathophysiology PDF

NUR 320 Module 1A Mary Rose Gaughan, PhD, RN, CNE D’Youville University  Agenda Introductory topics for pathophysiology 1. Concepts of health and disease 2. Stress and adaptation 3. Chromosomal and genetic alterations/disorders 4. Neoplasia – benign and malignant...

NUR 320 Module 1A Mary Rose Gaughan, PhD, RN, CNE D’Youville University  Agenda Introductory topics for pathophysiology 1. Concepts of health and disease 2. Stress and adaptation 3. Chromosomal and genetic alterations/disorders 4. Neoplasia – benign and malignant 2 Today’s Objectives Define selected terminology Introduce concepts of health and disease. Discuss genetic disorders. Describe the following concepts: stress and adaptation, neoplasia. 3  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 4 Concepts of Health and Disease US Department of Health and Human Services – ‘Healthy “Health is a state of People 2020’ complete physical, mental, 1. Attain lives free of and social well-being and preventable disease, injury, and not merely the absence of premature death. disease or infirmity.” (World Health Organization 2. Achieve health equity and Constitution, 2011) eliminate disparities. 3. Promote good health for all. 4. Promote healthy behaviors across the life span. Clinical Manifestation (clinical signs and symptoms) S&S can be related Some diseases can to primary disorder Signs and symptoms be silent until they or the body’s are advanced response/compensati on for the disease Syndrome: Complications = Sequelae = lesions compilation of signs adverse extensions or impairments that and symptoms of a disease or follow or are caused characteristic of a outcomes of by a disease disease treatment 6  Diagnosis Clinical Course Designation as to the nature Acute, sub-acute, or chronic course or cause of a health Spectrum of infectious disease problem severity can range from pre-clinical to persistent chronic infection. Requires: careful history, Example: Hepatitis B physical exam, diagnostic Chronic disease implies a tests continuous, long-term process. A chronic disease can run a continuous Weighs competing course or can present with possibilities, selects most exacerbations (aggravation of symptoms and severity of the likely among conditions that disease) and remissions (a period are probable for the clinical during which there is a decrease in presentation severity and symptoms). 7 Epidemiology and Patterns of Disease Epidemiology is the study of disease occurrence in human populations. How a disease is spread, how to control it, how to prevent and eliminate it Measures disease frequency – incidence and prevalence Morbidity – functional effects of a disease, quality of life Mortality – death producing effects of a disease, causes of death 8 Determining Risk Factors Conditions that are suspected of contributing the development of a disease Inherent – example: HTN, obesity External – tobacco or alcohol use Different studies used to determine risk factors: cross-sectional, case-control, cohort 9 Natural History and Preventing Disease Natural history is the progression and projected outcome of disease without medical intervention. Did not receive treatment for the disease Prognosis is the probable Primary – remove risk outcome and prospect of factors recovery from a disease Secondary – early Three types of detection and treatment prevention: (pap smear colonoscopy) Tertiary – reduce Prognosis the chance of a complications, prevent full recovery is < 50% further deterioration 10 Stress and Adaptation - Homeostasis Homeostasis - purposeful maintenance of a stable internal environment by coordinated physiologic processes that oppose change Feedback systems – response to stimuli to return to homeostasis Most feedback systems in the body are negative – ex: release of insulin in response to increased blood glucose. Increased respirator rate and dry mouth. Positive feedback systems – stimulus produces more of the same. Example: exposure to increased temperature =increase (not decrease) in body temperature Sample Footer Text 11  Stress and Adaptation Stress contributes directly to the production or exacerbation of a disease, can contribute to the development of behaviors that increase disease risk (smoking, overeating, drug abuse) “A state manifested by a specific syndrome of the body developed in response to any stimuli that made an intense systemic demand on it.” – Hans Selye Stressors can be endogenous or exogenous Hormones and neurotransmitters released to alert a threat to homeostasis, enhance cardiovascular and metabolic activity to manage stressor, suppress other body systems that are not immediately needed by focusing energy Adaptation = ability to respond to challenges of physical or psychological homeostasis and to return to a balanced state 12  General Adaptation Syndrome (GAS) – changes to the body due to stressor General Adaptatio n Three stages: Exhaustion Syndrome Alarm Stage: Resistance stage: prolonged or (GAS) characterized by a Stage: body generalized stimulation selects the most overwhelming ability for the of the sympathetic effective and body to defend nervous system and the economic itself, depleted HPA axis, resulting in channels of resources, signs the release of defense, cortisol of systemic catecholamines and drops (no longer damage appear cortisol needed) 13  All living organisms do not submit passively 14 to the impact of environmental forces Technology helps and challenges adaptation Coping Examples: antibiotics, immunization, noise, pollution and Responses are specific to the threat Adaptati Coping strategies used to maintain balance on to between stressor and how we deal with it How we cope depends on perceive and Stress interpret the stressor/event Dependent on nutrition, hardiness, genetics, age, psychosocial factors, physiologic reserve, sleep- wake cycles, rapidity with which need for adaptation occurs Disorders of the Stress Response Stress response is meant Stress can be acute time to be acute and time limited, chronic limited, when it is chronic intermittent, chronic it becomes disruptive to sustained physical and mental health Can induce many health Availability and efficiency problems: mood disorders, of stress response eating and sleep determined by frequency disorders, DM2, HTN, and chronicity. Traumatic infection, autoimmune events will cause exacerbations, GI increased amounts of problems, pain, obesity, norepinephrine, eczema, cancer, atherosclerosis, migraines 15  Treatment Early intervention to assist in adapting new and effective coping mechanisms to better manage stress in the future Avoid coping mechanisms that impose a risk to their health and provide alternative stress-reducing strategies Purposeful priority setting and problem solving, relaxation techniques, guided imagery, music therapy, massage, biofeedback Clinical manifestations of acute stress include a heightened sense of alertness to surroundings and other persons. 16 Chromosomal and Genetic Alterations/Disorders Most genetic changes caused by changes in DNA, others from chromosomal errors (deletion or duplication errors, abnormal number of chromosomes) Defined by dominant or recessive, autosomal or sex-linked Autosomal = transmitted to offspring regardless of sex Dominant = 50% chance of transmitting to offspring, if gene is present so is disorder Recessive = both parents must pass on gene, only homozygous are affected 17 Autosomal Dominant – Marfan Syndrome Disorder of connective tissue Prevalence is 1 per 5000 Affects eyes, CV system, skeletal system Long, thin body with exceptionally long extremities, long tapering fingers, hyperextendable joints, kyphosis or scoliosis, pectus excavatum Life threatening CV defects: mitral valve prolapse, aortic dilation, weakened aorta and arteries 18 Autosomal Recessive – ex: Phenylketonuria (PKU) Deficiency of the liver enzyme phenylalanine If untreated = Metabolic disorder that hydroxylase  allows microcephaly, delayed affects 1 in 10,000- toxic build up of speech, impaired 15,000 infants in the phenylalanine which neurologic US can impair brain development development Develops gradually Treated with special and difficult to assess diet that restricts  all infants are phenylalanine intake screened 19  X-linked Sex linked – almost always associated with X chromosome Male sex chromosomes: XY Female sex chromosomes: XX Predominantly recessive 20 Chromosomal Disorders Account for a large proportion of early miscarriages, congenital malformations, intellectual disability Humans = 23 pairs of chromosomes, 46 total chromosomes Disorders can be from an abnormal number of chromosomes (aneuploidy), or alteration to the structure of one or more chromosomes 21 Non-Disjunction Aneuploidy = abnormal number of chromosomes Usually due to a failure to separate during oogenesis or spermatogenesis Can occur in either autosomes or sex chromosomes Gives offspring an uneven number of chromosomes monosomy or polysomy 22 Down Syndrome – Trisomy 21 Three copies of chromosome 21 = 47 total chromosomes Most common chromosomal disorder Specific physical characteristics that are characteristic at birth Risk increases with maternal age Prenatal screening tests completed to determine the risk of having a child with Down syndrome 23 Turner Syndrome Absence of all or part of the X chromosome Can be 46 XX or 45 X0 Approx. 1 of 2500 live births, most frequently occurring genetic disorder in women Lose majority of oocytes by age 2  do not menstruate or display secondary sex characteristics Variations in presentation/phenotype Diagnosis often delayed until late childhood/early adolescence Treatment: growth hormone, estrogen therapy 24  Klinefelter Syndrome Presence of one or more extra X chromosomes in excess of normal XY Most have one extra X (47 XXY), can be more (ex: 48 XXXY) Approx 1 in every 700 newborn male infants Variable presentation/phenotype Male phenotype retained, often undetected at birth Management = neurodevelopmental evaluation Androgen therapy for testosterone deficit 25  Neoplasia Neoplasia = new growth Cancer is leading cause of death worldwide, second only to CV disease Influenced by exposure to external and internal factors Survival rates affected by: type of cancer stage at diagnosis availability type of treatment Sample Footer Text 26 Neoplasm Abnormal mass of tissue in which the Do not obey the growth exceeds laws of normal cell Serve no useful and is growth are not purpose uncoordinated with well-differentiated that of normal tissues Named after the Classified as tissue type from Solid or benign or which the growth hematologic malignant initiated, add “- oma” suffix 27 Neoplasm Benign Malignant Well-differentiated and Less-differentiated, break clustered together in a single loose, enter circulatory and mass lymphatic system Usually do not cause death Form secondary malignant unless their location/size tumors at other sites interferes with vital functions (metastasis) Slower growth Rapid growth Resemble normal cells from which tumor originated Little resemblance to normal cells 28 Benign versus Malignant Tumors Benign​ Malignant​ Grow slowly​ Grow rapidly​ Well-defined capsule​ Not encapsulated​ Not invasive​ Invasive​ Well differentiated​ Poorly differentiated​ Low mitotic index​ High mitotic index​ Do not metastasize​ Can spread distantly (metastasis)​ 29 Characteristics of Cancer Cells 30  Cancer = crab-like Invasion Metastasis occurs through lymph channels and and blood vessels Metastasi s Must be able to ‘break loose’ from primary tumor invade surrounding extracellular matrix emerge at a favorable location invade surrounding tissue begin to grow and establish blood supply 31  Etiology of Cancer Genetic and Molecular Basis Host and environmental factors Genetic damage or mutation Host: heredity, hormones, transforms normally immunologic mechanisms functioning cell to cancer Environmental: chemicals, cell radiation, cancer-causing Cellular microenvironment viruses 32 Clinical Manifestations Every body function is affected by the presence of cancer Initial manifestations usually reflect primary site of involvement Generalized manifestations: fatigue, anorexia, cachexia, anemia, decreased resistance to infections, pain in later stages Compounded by the side effects of treatment 33 Tissue Integrity Compress and erode blood vessels = cause Can produce enzymes and ulceration and metabolic toxins that necrosis, frank destruct surrounding bleeding and tissues hemorrhage Warning signs: blood Does not heal in stool (colorectal normally cancer), sore that does not heal 34 Systemic Manifestations Not directly related to the presence of a tumor mass but because of altered metabolic pathways and other mediators Wasting syndrome: anorexia and cachexia, hypermetabolic state in tumor-bearing state Fatigue and sleep disorders – can be early symptom Anemia – blood loss, hemolysis, impaired RBC production 35 Screening Secondary prevention measure for early recognition of cancer in asymptomatic population Completed through: observation, palpation, lab tests and procedures Requires a test to specifically detect early cancers or pre-malignancies, is cost effective, and results in improved-therapeutic outcomes Improvement in outcomes has been shown in the following malignancies: breast (mammography), cervix, (Pap), colon and rectum (rectal exam, FOB, colonoscopy), prostate (PSA, transrectal US), malignant melanoma (self- examination) 36  Diagnosis – Tumor Markers Antigens expressed on the surface of tumor cells or substances released from normal cells in response to cancer Used for screening, establishing prognosis, monitoring treatment, detecting recurrent disease Example: prostate-specific antigen (PSA) and prostate cancer Limitations: most not elevated in the early stages of malignancy, not specific enough to permit a diagnosis of malignancy 37 Diagnosis – Cytology and Histology Examining cells and tissues in the lab Sampling approaches: 1. Cytologic smears 2. Tissue biopsy 3. Needle aspirations 38 Staging and Grading of Tumors Both used to determine the course of the disease and selecting an appropriate treatment course Grading = examination of cancer cells to determine level of differentiation o Grades I, II, III, IV with increasing lack of differentiation Staging determines the extent and spread of disease 39  TNM Classification System 40 Treatment Three categories: Curative Patients/clients are Control responsible for their care Palliative Most common modalities are surgery, radiation, chemotherapy, hormonal therapy, biotherapy Treatment is a carefully planned program that combines benefits from multiple treatment modalities and the interdisciplinary team Sample Footer Text 41