Exam 1 Flashcards
1
Q
What is pathology
A
Study and diagnosis of disease through examination of organs, tissues, cells, and bodily fluids
2
Q
What is pathophysiology
A
the study of abnormalities of physiologic functioning of living beings
3
Q
What is etiology
A
the cause or reason for a phenomena. Identification of causal factors that acting together provoke a disease or injury
4
Q
What is pathogenesis
A
development of disease in cells, tissues, and organs. Dynamic interplay of changes in cell, tissue, organ, and systemic function
5
Q
What is idiopathic
A
Cause is unknown
6
Q
What is iatrogenic
A
Cause is a result of unintended or unwanted medical treatment
7
Q
What is a risk factor
A
Probability of development of disease when factor is present
8
Q
Compare symptom vs. signs
A
Symptom is subjective that the patient reports (nausea) signs are objective (witnessed vomiting).
9
Q
Give 8 stages and clinical course of a disease
A
Latent or incubation period, prodromal period, manifest illness or acute phase, subclinical stage, acute or chronic, exacerbations and remissions, convalescence, sequela
10
Q
Give four physiologic processes affecting disease
A
Age, gender, genetic and ethnic background, and geographic area
11
Q
Give 6 factors affecting disease to think about when treating someone
A
Cultural considerations, socioeconomic and lifestyle, age differences, gender differences, situational differences, and time variations
12
Q
Give four types of primary prevention and give its other name
A
Prevention of disease: improved nutrition, housing, and sanitation. Immunizations. Education. Safety precautions (seat belts, speed limits, chemicals).
13
Q
Give 3 types of secondary prevention and give its other name
A
Screening: physical examinations and routing screening. Self breast exams. Amniocentesis.
14
Q
Give 2 types of tertiary prevention and give its other name
A
Treatment: Once a disease is established medical and surgical treatment. Rehabilitation.
15
Q
How are large molecules such as proteins brought through membrane
A
Ingested via endocytosis (either pino or phago) and secreted via exocytosis.
16
Q
Describe receptor mediated endocytosis
A
Chemicals bind to a receptor on the outside of membrane, the membrane with bound chemicals pinches inwards carrying the molecules inside the cell.
17
Q
What is cellular edema
A
Excess fluid can enter the cell’s internal environment causing swelling.
18
Q
Describe the Na-K pump and what happens if it fails
A
Maintains low Na and high K concentrations in the cell. This maintains cell volume by controlling solute concentration and therefore osmotic forces across the membrane. If Na is continually allowed in the cell it will burst.
19
Q
What does the Na-K pump exchange every time ATP is bound
A
3 Na out and 2 K in
20
Q
Where does aerobic vs anaerobic metabolism take place
A
Aerobic happens inside the mitochondria and requires oxygen while anaerobic metabolism happens outside of the mitochondria and consists of just glycolysis
21
Q
Describe mitochondrial DNA
A
Only organelles with their own DNA. Mitochondrial DNA is subject to mutation by oxygen-derived free radicals.
22
Q
Describe free radical effect on structures
A
Free radicals oxidize cell structures and can be called oxidants. They disrupt the integrity of the cell membrane and damage organelles and DNA, causing cell dysfunction. Worst place for this to occur is in muscles, cerebrum, and nerves.
23
Q
Name some antioxidants
A
vitamins A, E, C, and beta-carotene counteract free radicals.
24
Q
Describe lysosomes
A
contain digestive enzymes. They digest particles brought in by endocytosis, pinocytosis, or phagocytosis. Also digest worn out cell parts. In cell death autolysis occurs and enzymes rupture from lysosome and digest the whole cell.
25
What types of cells have many lysosomes
White blood cells (macrophages that constantly survey body for antigen)
26
How do lysosomes play a roll in myocardial infarction
In myocardial infarction cardiac muscle cell death leads to autolysis leading to lysosome enzymes spilling out to digest dead cardiac muscle cells. It is screened for by drawing blood and looking for lysosomal enzymes.
27
Describe ribosomes
They are the factories of protein synthesis. The nucleus gives directions on what proteins to make.
28
What is a clinical concept that involves ribosomes
Some antibiotics interfere with the function of bacterial ribosomes, thereby inhibiting bacterial protein synthesis.
29
What is a chromosome
Chains of genes
30
Describe cellular adaptations and maladaptive changes
All diseases result in some alteration of cell function because the cell responds to stressors in the environment. In circumstances of overwhelming insult, cell injury or cell death can occur. Cell injury can be reversible but if the injurious agent is persistent or severe enough, cell injury can lead to cell death.
31
What is histology
The microscopic study of tissues and cells.
32
What is a biopsy
Cell sample from an organ or mass of tissue to allow for histological examination.
33
What are pathogonomic changes
Unique histological findings that represent distinct disease processes.
34
What is atrophy
Decreased cell size
35
What is hypertrophy
Increased cell size
36
What is hyperplasia
Increased cell number
37
What is metaplasia
conversion of one cell type to another
38
What is dysplasia
disorderly cell growth
39
Give 6 causes for atrophy
Disuse or diminished workload. Lack of nerve stimulation (paralysis). Loss of hormonal stimulation. Inadequate nutrition. Decreased blood flow (ischemia). Aging.
40
Describe hypertrophy of cells and the natural effects it brings.
Individual cells become larger which can either be physiologic (lifting weights) or pathologic (disease caused). Hypertrophy necessarily brings a greater metabolic demand and greater energy needs
41
Give a pathologic hypertrophy example
The heart hypertrophies in response to hypertensions (greater workload because of greater peripheral resistance).
42
Give a physiologic hypertrophy example
Weight lifters develop hypertrophied muscles because of increased workload and use.
43
Describe causes of hyperplasia
Can be hormonal such as pregnancy of benign prostatic hyperplasia. Or can be compensatory cellular changes. Excessive cells can be a good adaptive response or they could be detremental.
44
Give an example of hormonal hyperplasia
Pregnancy increases demand of milk production (lactation) which causes hyperplasia of breast milk glands and tissue mass.
45
Give some cause for metaplasia
Metaplasia is replacement of one cell type by another cell type. Response to a change in environment. Typically occurs with chronic inflammation. The substitution of cells enables the survival of the tissue.
46
Give an example of metaplasia
In esophagitis, the cells of the lower esophagus change to be able to cope with the stomach acid that constantly irritates the cells. This leads to a disease called gerd. The flat epithelium of the esophagus change to become more columnar like stomach cells.
47
Describe dysplasia and what must be watched for
Deranged cellular growth. Cells vary in size, shape, and organization compared to healthy cells. It is a precancerous condition that must be watched carefully becaues very often will develop into neoplasia.
48
Describe neoplasia
New growth that usually refers to disorganized, uncoordinated, uncontrolled, proliferative cell growth that is cancerous. Tumor and neoplasm are often used interchangeably.
49
Describe some dysfunctions of the Na-K pump
Insufficient ATP, normal osmotic balance altered. Increased intracellular Na draws water in causing swelling. If an organ is swollen and enlarged it is termed megaly. Increased extracellular K also if calcium pump fails calcium accumulates in the cell leading to cell degradation and calcifications often accumulate in areas of cell injury and death. An example is a mammogram
50
Describe the effects of loss of plasma membrane integrity
Guardian of organelles is damaged, injurious agents can now affect any organlle. Water can enter causing swelling. The mitochondria can be damaged and halt energy production. Organelles can swell and deteriorate and the nucleus is now vulnerable to injury
51
Describe the effects of defects in protein synthesis
Cells low in energy, decreased ATP. Protein synthesis begins to fail and the lack of proteins can begin the process of cell degradation and death.
52
Describe what can happen with genetic damage and give an example
Injury to DNA causes mutations. The cell structure and function is changed. RNA can become damaged which produces abnormal proteins. These changes will often be incompatible with life. An example is exposure to high doses of radiation can trigger cancerous cell changes due to DNA damage.
53
Describe intracellular accumulations and give a clinical concept that is tied to these
Cells can accumulate excessive amounts of substances through cellular constituents, acquired from the environment, abnormal metabolic function, exposure, and aging. Possibly reversible if brought under control. Jaundice is tied to this.
54
Give two other examples of abnormal intracellular accumulations
Anthracosis (coal miner's lung) and fatty liver
55
What is hypoxic cell injury and give 7 most common causes
Hypoxia is oxygen deprivation most commonly caused by ischemia, anemia, anaerobic metabolism, low concentrations of oxygen in the environment, inadequate oxygen diffusion, suffocation, and airway obstruction.
56
What is anemia
A condition that happens when your body is producing or has less red blood cells than it should
57
Describe free radical injury and give a clinical concept
Reactive oxygen molecules are produced as by-products of energy metabolism as well as present in cigarette smoke, pesticides, and other toxins. They disrupt the internal organelles and damage nucleus. Antioxidants can counteract this free radical injury.
58
Give 3 examples of mechanical trauma
laceration, gsw, falls
59
Give four examples of temperature causes of injury
Frostbite, radiation, electrical shock, sunburn
60
Describe 3 types of chemical injury and give examples of each
Endogenous (diabetes), biological (electrolyte imbalance) and exogenous (drugs, pollution, and poison). They injure plasma membrane and gain access to cell's interior
61
What is an immunological reaction injury and give two examples
Immune system overreacts and attacks itself such as with allergies and autoimmune diseases like rheumatoid arthritis
62
What are required for enzymatic reactions
amino acids, glucose, fats, and minerals
63
What is needed for ALL cellular functions
carbohydrates
64
What are the basic building blocks of ALL cells
proteins
65
What is the significance of endothelial cell injury
Endothelial cells line the artery walls. Endothelium are a blanket of cells covering the inside of all arteries. Endothelial injury causes an inflammation reaction an initiates the process of atherosclerosis
66
Give 3 functions of endothelial cells aside from providing structural integrity of artery walls
Secrete nitric oxide (vasodilator). Secrete endothelin (vasoconstrictor), and secrete thrombogenic substances (help form platelet plugs)
67
Give four causes of endothelial cell injury
Hypertension, free radicals, high glucose, and hyperlipidemia
68
Describe hypertension in the context of endothelial cell injury
High shearing force against the wall of the artery damaging the endothelium. Aneurysm becomes more likely due to the weakening of the walls.
69
Describe free radicals in the context of endothelial cell injury
substances in the environment that attack endothelium and disrupt its integrity such as free radicals from cigarettes
70
Describe high glucose in the context of endothelial cell injury
in uncontrolled diabetes, glucose attaches to endothelial cells and disrupts their integrity. Development of arteriosclerosis throughout the body.
71
Describe hyperlipidemia in the context of endothelial cell injury
Low density lipoproteins (LDLs) in the bloodstream combine with WBCs in the endothelial artery wall to initiate the beginnings of atherosclerosis
72
Describe irreversible cellular injury and give two examples
Injury is too severe or prolonged to allow adaptation or repair and reversal. Apoptosis is genetically programmed cell death over a specific time span and has no adverse effects on the body. One example is ovaries undergo apoptosis in females at age 55. WBCs undergo apoptosis after their participation in an inflammatory reaction.
73
Describe necrosis and give an example
Tissue and cell death stressors overwhelm the cells ability to survive. Intracellular contents are released into bloodstream such as in myocardial infarction and an elevated troponin level (this is ischemic necrosis)
74
What happens with a failure of apoptosis and give an example
Cells that fail to undergo apoptosis can give rise to certain cancers, tumors, and detrimental hyperplastic cell changes. An example is prostate cancer is theorized to arise from cells that lose their apoptotic function.
75
Describe excessive apoptosis and give an example
Some disorders are associated with increased cellular apoptosis, which results in excessive cell death rates. An example is some degenerative neurological diseases such as spinal muscular atrophy are thought to arise from nerve cells that undergo increases apoptotic rates and die prematurely
76
Describe gangrene and give 3 causes
Necrosis of tissues as cells die. The dead tissue is a medium for certain types of bacteria. Causes are prolonged ischemia, infarction, and typically patients with peripheral arterial disease (PAD)
77
Describe clinical interventions to reverse cell injury and give 3 clinical examples
Removing the injurious stimuli is the first priority as well as restoring circulation or nerve stimulation. Examples are acid suppression treatment can resolve the metaplasia of barrett's esophagus. Neoplastic growths can be surgically removed. Intracellular accumulations can usually be eradicated by resolving the etiology of the metabolic derangement
78
Give four interventions to treat permanent cell injury
Transplantation, restoration with stem cells, reproductive cloning, and therapeutic cloning.
79
What are embryonic stem cells
Cells taken from an embryo in the blastocyst stage. Cells have potential to become any new organ and since blastocyst cells don't have surface antigens there are no incompatibility problems.
80
Give 5 proposed future treatments where stem cells could be used
Sickle cell anemia, diabetes, parkinson disease, tissue repair of skin, and replacement organs
81
Describe therapeutic cloning
This is another potential use for stem cells. Pluripotent stem cells offer the possibility of a renewable source of replacement cells and tissues to treat a myriad of diseases, conditions, and disabilities including parkinson's disease, amyotrophic lateral sclerosis, spinal cord injury, burns, heart disease, diabetes, and arthritis.
82
Compare eustress and distress and name 3 theorists in this realm
Eustress is a stressor that positively motivates a person. Distress is stress that negatively affects a person's well-being. Theorists are Hans Selye, Walter cannon, and Bruce McEwen
83
Describe stressor according to the selye stress response theory
A challenging demand on the body that arouses a response from multiple organ systems. Stressors can be positive or negative experiences for the individual and have the potential to cause adverse health effects.
84
Give 8 conditioning factors for an individual's reaction to a stressor according to selye stress response theory
Age, gender, genetics, pre-existing health conditions, life experiences, developmental level, educational level, social support
85
What is adaptive ability according to selye stress response theory
the way in which the individual manages stress and reduces the effect of the stressor on his or her life
86
Describe the alarm stage of the general adaptation syndrome and give 3 characteristics
Fight or flight, the alarm stage is state of arousal characterized by stimulation of CNS, SNS, and adrenal gland
87
Describe the resistance stage of stress
The body attempts to stave off the effects of stress through continual hormone and catecholamine secretion. It is a time-limited stage. When stress subsides, then the SNS and adrenal stimulation abate, and the PNS responses resume a state of relaxation
88
Describe the exhaustion stage of stress
If the stressor does not subside and the stress is prolonged, the high levels of hormone and catecholamine secretion cannot be sustained and the exhaustion ensues. Stress overwhelms the body's ability to defend itself. Resources are depleted and signs of systemic dysfunction occur. During this stage an individual can feel run-down, unable to cope, depressed, anxious, and can feel physically ill
89
Describe allostasis according to McEwen's long term stress theory
a dynamic state of balance that changes according to exposure to stressors
90
Describe allostatic load according to McEwen's long term stress theory
The wear and tear on body systems caused by stress reactions. Allostatic load is not only determined by the stressor, but also by how well the individual adapts to the stressor. Elderly individuals have less resiliency to stress because the body requires more time to recover from stressful event
91
Give four reasons that allostatic load can accumulate
repeated stressful experiences, inability of the individual to adapt to stress, prolonged reaction to a stressor, and inadequate response to a stressor.
92
According to McEwen what happens when stress exceeds the body's ability to adapt
allostatic overload ensues and the initiation of pathophysiological disorders happens
93
Give 5 treatments for stress originating issues
reduce caffeine intake, engage in yoga, increase exercise, ensure sufficient sleep, and achieve proper nutrition
94
Give four other treatments of stress originating pathologies
Stress management programs, psychotherapy, alternative medicine, and pharmacology
95
Give 7 interventions to counteract immobility
Active range of motion, passive range of motion, isometric exercise, aerobic exercise, positional changes such as side-lying and to a chair (at least every 2 hours), special mattresses, and antithromboembolic stockings
96
Describe the four stages of pressure injuries
1. Erythema and irritation of skin 2. Loss of skin layer 3. loss of skin and dermal layer with ulceration 4. loss of skin, dermis, muscle, down to the bone
97
What is erythema
superficial reddening of the skin usually in patches as a result of injury
98
Name the 6 areas that are most susceptible to pressure injuries
Occiput, shoulders, elbows, sacral region, calf region, and heels
99
Describe a cancerous neoplasm
Grows in an uncoordinated manner and looks different from normal cells. Doesn't function like the tissue or origin and competes with normal cells for space, blood supply, oxygen and nutrition. Proliferates independently and FAST. Large numbers of cancers have a genetic link. Can arise from proto-oncogenes and faulty cellular apoptosis
100
Give the benign tumor suffix with two examples and name 3 exceptions that are all highly malignant
suffix is "Oma" such as lipoma and adenoma. Exceptions are lymphomas, hepatomas, and melanomas
101
Describe four types of malignant tumors
Adenocarcinoma (glandular tissue), carcinoma (epithelial tissue MOST human cancers are this type), sarcoma (mesenchymal tissue like nerve, bone, and muscle), and leukemia (WBC)
102
Describe how cancer cells don't obey the rules
Ignore growth controlling signals and proliferate excessively becoming immortal. Lose their features and contribute poorly or not at all to tissue. Invade local tissue and overrun neighbors. Travel away from origin to invade distant sites. Genetically unstable, and are able to establish new colonies.
103
Describe benign neoplasia
Resemble healthy cells of tissue of origin (well-differentiated). Don't metastasize. Stay local and are often encapsulated.
104
Describe malignant neoplasia
Appear very different from tissue of origin. Secrete inappropriate enzymes, hormones, clotting substances, and tumor angiogenesis factor. Tend to break away and lack normal cell function.
105
Describe the epidemiology of cancer
Leading COD behind heart disease. Men more than women. In men prostate, in women breast. Most cancer deaths occur in people older than 65. Many cancers are preventable with lifestyle and avoiding carcinogens
106
Name 7 risk factors for cancer
Age, tobacco use, nutrition (too much fat, lack of fiber, too much alcohol, lack of antioxidants), obesity, occupation, sun exposure, sexual exposure
107
Describe the immune system as it relates to cancer
constantly surveying for foreign substances (non-self antigens). Recognizes and attacks to destroy mutated cells. Immunocompetence decreases with age and older adults are more susceptible to tumor development
108
Describe genetics as it relates to cancer
All cancers originate from changes in DNA. Tumor suppressor genes function to restrain cell growth, almost half of all cancers come from defective TP53 gene. Oncogenes regulate cell growth and proliferation, when mutated they stimulate constant cell growth
109
What are the role of viruses in cancer
virus genes are inserted into the host cell which then manufactures the virus. Activation of growth promoting pathways and inhibition of tumor suppressors can arise due to the virus
110
Give 3 examples of viruses playing an etiological role in cancer
HPV with cervical cancer, Eptstein-Barr virus with Burkitt's lymphoma, and Hep B and C with Hepatocellular carcinoma (HCC)
111
Describe 8 areas where carcinogenic embryonic antigen (CEA) a tumor marker can be found in the context of tumor markers
Colorectal, pancreatic, lung, breast, stomach, thyroid, liver, and ovarian
112
Where is alpha-fetoprotein found in the context of tumor markers
liver and testicular
113
Where is prostate surface antigen (PSA) found
prostate
114
Describe two screening tests for prostate cancer
PSA and DRE
115
Describe screening for cervical cancer
Papanicolou (pap) smear
116
Describe screening for breast cancer
mammogram
117
Describe screening for colon cancer
colonoscopy and FOBT
118
Describe screening guidelines for ovarian cancer
CA-125 test with transvaginal ultrasound in women at risk
119
Describe screening guidlines for breast cancer
After age 40 begin mammography (earlier if risk factors) MRI women with BRCA1 and/or BRCA2 gene
120
Describe screening guidelines for cervical cancer
Women 21 and older Pap/HPV test
121
Describe colorectal screening guidelines
Women and men 45+ colonoscopy, sigmoidoscopy and stool DNA test.
122
Describe prostate screening guidelines
Men 50+ PSA and DRE
123
Describe the spread of cancer in metastasis
Survival of tumor cell must find somewhere to stick before its destroyed in circulation. Fewer than 1 in 10,000 cancer cells that enter circulation will survive to metastasize. Tumor cells seem to "home" in on specific targets and are spread through bloodstream or lymphatics
124
Describe grading and staging of cancers
Grading is a histological characterization of tumor cells. Usually 3 or 4 classes. Staging is the location and pattern of spread. TNM stands for Tumor size, lymph node affected, and degree of metastasis
125
Describe the effects of cancer on the body
Asymptomatic, pain, cachexia, immune suppression, infection, bone marrow suppression (leukopenia, thrombocytopenia, anemia). Opportunistic infections and once chemotherapy has begun hair loss and sloughing mucosal membrane
126
What is cachexia
Muscle mass loss sometimes associated with fat loss as well likely due to cancer cells being incredibly energetically hungry
127
What do chemotherapy drugs most negatively affect
Cells that rapidly divide such as bone marrow, intestinal epithelia and hair follicles
128
Describe the caution acronym for early signals of cancer
Change in bowel or bladder habits. A sore throat that doesn't heal. Unusual bleeding or discharge. Thickening or a lump in breasts, testicles, or elsewhere. Indigestion or difficulty in swallowing. Obvious change in the size color, shape, or thickness of a wart, mole, or mouth sore. Nagging cough or hoarseness
129
Describe the children acronym for cancer warning signs in children
Continued, unexplained weightloss. Headaches with vomiting in the morning. Increased swelling or persistent pain in bones or joints. Lump or mass in abdomen, neck or elsewhere. Development of whitish appearance in pupil of the eye. Recurrent fevers not caused by infections. Excessive bleeding or bruising. Noticeable paleness or prolonged tiredness
130
What does hem/hemat prefix mean
blood
131
What does blast suffix mean
make
132
What does clast suffix mean
destroy
133
What does emia suffix mean
blood
134
What does penia suffix mean
lack
135
What does rhage or rhagia suffix mean
Break out/discharge
136
what does osis suffix mean
abnormal condition
137
What is a hematocrit
test that measures percentage of red blood cells
138
What are petechiae
Red brown or purple little spots on the skin caused by bleeding
139
What is ecchymoses
Bleeding under the skin usually more like a bruise than petechiae
140
What is hepatomegaly
Enlargement of the liver
141
Describe cell lifespans for wbc/leukocytes, rbc, and platelets
in WBC it varies by cell type but neutrophils (60-80% of wbc count) have half life of 4-10 hrs in tissue and 6 hrs in blood once released from bone marrow. RBC live 80-120 days once released from bone marrow. Platelets live 4-10 days once released from bone marrow
142
Describe myeloid cells and give four examples
Originate from myeloid stem cells. Neutrophils, monocytes, RBCs and Megakaryocytes (that give way to platelets) are examples
143
Describe lymphoid cells and give 3 examples
Originate from lymphoid stem cells. T-cells, B-cells, and natural killer cells are examples
144
Describe myeloid neoplasm
Originate in bone marrows stem cells and are released into blood stream. Stimulate overproduction of one or more cell types. Produced cells may be normal or abnormal in appearance or function
145
Give etiology of chronic myeloid leukemia
Median age is 50 years old. More common in males than females. Ionizing radiation is a risk factor
146
What is the philadelphia chromosome
Overproduction of mature granulocytes carrying the philadelphia chromosome leads to reduced apoptotic cell death and is a hallmark of chronic myeloid leukemias (CML)
147
Give signs and symptoms of CML
Increased granulocyte count, fatigue, weight loss, bleeding, splenomegaly with abdominal pain and/or fullness. Extremely high WBC counts (150,000 cell/u)
148
Give four general facts about CML
Onset usually 40-50 years, can convert to AML, stem cell transplant is a treatment and it has a 90% survival rate if caught
149
What is etiology of AML
Previous chemotherapy or radiation therapy
150
What is the pathophysiology of AML
Group of malignancies of varying myeloid stem cells. Presentation of affected cells vary in differentiation and maturation with increased blasts. Prolonged apoptosis
151
Describe signs and symptoms of AML
They have an abrupt onset and consist of bone pain, anemia, thrombocytopenia, and frequent infections especially of skin, gi, gu and respiratory tract
152
Give four general facts about AML
80% of adult leukemias are AML. Onset usually in 6th decade of life. Survival is 40-50% for children and 20-30% for adults. Prescription is chemotherapy and new monoclonal antibody modalities
153
Describe lymphoid neoplasms
Malignant transformation of the lymphoid stem cells: t-cells b-cells and NK. Lymph tissue solid tumors are lymphoma and in the blood it's leukemia
154
Describe the etiology of CLL
Exposure to any agent that can disrupt DNA. Twice as likely in males. More common with family history of any B cell malignancy. Exposure to herbicides and insecticides or agent orange used in Vietnam.
155
Describe pathophysiology of CLL
Usually due to a malignant b-cell precursor that invades lymphoid tissue and brone marrow leading to prolonged apoptosis and b-cells that do not mature
156
Give signs and symptoms of CLL
In the bone marrow we see anemia (and therefore fatigue), thrombocytopenia (and therefore bleeding tendencies). In lymphoid tissues we see enlarged painless lymph nodes and/or spleen. Fever, elevated WBC count, ANOREXIA, weight loss, and frequent infections
157
Describe treatment of CLL
Usually diagnosed by accident on routine lab draws. Chemotherapy is used and it has a 70-90% survival depending on particular cells involved
158
Describe etiology of ALL
Common in children, survival rate of 80% in kids and 20-40% in adults. Risk factors are prenatal radiation exposure in children
159
Describe the pathophysiology of ALL
Malignant transformation of t or b-cells in the bone marrow causing cells to not mature appropriately. Presents as lymphoblastic leukemia. Lymphoblasts crowd the bone marrow and suppress the formation of blood cells
160
Describe signs and symptoms of ALL
Bone pain. Bruising, epistaxis or other bleeding issues. Fever/chills. Night sweats. Enlarged lymph nodes. Anorexia. Fatigue, pallor and dyspnea due to anemia. Abdominal pain. Activity avoidance. Frequent infection due to abnormal WBCs
161
What is treatment for ALL
chemotherapy, bone marrow transplant, and monoclonal antibodies. Early treatment leads to 65-70% 5 year event free survival rate
162
Describe plasma cell myeloma (multiple myeloma)
Malignancy of b-cells leading to increased antibody fragments called Bence Jones proteins. Twice as common in males and african americans. Risk factors include agent orange and radiation exposure
163
Describe signs and symptoms of plasma cell myeloma (multiple myeloma)
Associated with deposition of the antibody fragments in bone and kidneys: High Ca in blood and urine, renal failure, honeycomb bone, bone pain, fractures, anemia, bleeding tendencies, frequent infections
164
Give Plasma cell myeloma onset and treatment
Onset starts at 50 years and rate increases with age. Treatment is chemotherapy, bone marrow transplant, and stem cell transplant
165
Describe etiology and pathophysiology of Hodgkin's lymphoma
Malignancies of lymph nodes that produce reed sternberg cells from b-cells in association with Epstein-Barr virus. Exist in four forms. Predictable metastatic pattern. Overproduction of abnormal antibodies and underproduction of other blood cells. Most common in males with an onset of between 20-40 years
166
Give some risk factors for Hodgkin's lymphoma
60 years or older. Immune disorders. H. pyolori. Hep C. Immunosuppression. Toxic chemicals like pre 1980 hair dye, pesticides, herbicides, and benzene or other solvents.
167
Give hodgkin diseases signs and symptoms
Painless lymphadenopathy of liver, spleen, tonsils, and thymus. Night sweats. Pruritus due to cytokine deposits in the skin. Weight loss and anorexia. Chest pain if the thymus is involved
168
Describe Hodgkin diseases treatment and survival
Chemotherapy or radiation. 85% survival at 5 years for those under 65 and 50% survival at 5 years for those over 65
169
Describe non-hodgkin diseases
Etiology is similar to Hodgkin's lymphoma. Malignancies arising in lymph nodes that originate in any lymph tissue and do not have the reed-sternberg cells. Spread early and in unpredictable paths. Thought to be associated with some viruses.
170
Describe non-hodgkin disease signs and symptoms
Lymphadenopathy (painless), fever, night sweats, weight loss, pruritus, infections, joint effusions, and local signs and symptoms.
171
What is pruritus
Itchiness
172
What are joint effusions
fluid buildup on joints
173
Describe survival of non-hodgkin diseases and treatment
Survival ranges from 26-70% depending on number of risk factors present and the stage of disease at diagnosis. Stage III and IV are most common presentation with poorest prognosis. Treatment is chemotherapy, radiation, bone marrow transplant, and monoclonal antibodies
174
What is mononucleosis and how is it spread
Epstein-Barr virus infection, most individuals have been exposed and have developed some immunity. Spread through contact with saliva
175
Give signs and symptoms of mononucleosis
4-6 week incubation period, pharyngitis, lymphadenopathy, fever, spleenomegaly, hepatomegaly
176
What is lymphadenopathy
Swelling of the lymph nodes
177
How long does mono last
Dormant or latent for life. Signs and symptoms last from 1-4 months
178
What is the etiology for neutropenia
Infections
Certain Drugs
Vitamin deficiencies
Bone marrow diseases
Radiation therapy
Hemodialysis
Hyperspleenism
Some autoimmune disorders
179
What is the pathophysiology of Neutropenia
Low (<500cells/µL) neutrophils
Results in increased infections
Infections can be life threatening
Requires protection of individuals – neutropenic precautions
180
Describe polycythemias
Excessive RBC, WBC and platelet production
Increased blood viscosity
Hypertension
Thrombosis
Mucosal hemorrhage
181
Describe the 3 different types of polycythemias
Polycythemia Vera – malignant
Secondary Polycythemia – chronic hypoxemia
Relative Polycythemia - dehydration
182
Give the signs and symptoms of polycythemias
HA (headache) Visual disturbances
Weight loss
Paresthesia
Dyspnea
Joint discomforts
Epigastric pain
Splenomegaly
Back pain
Weakness
Fatigue on exertion
Pruritus
Dizziness
Sweating
183
What is the treatment for polycythemias
Contingent on cause
Remove the cause
Phlebotomy
Chemotherapy
Myelosuppressive therapy
184
Name 3 bleeding disorders
Thrombocytopenia
Hemophilia
Von Willebrand Disease
185
What is the etiology of thrombocytopenia
A long list of drugs
Cancers of the bone marrow
Recent viral infection
Liver or spleen disorders
Deficient Platelets due to:
Decreased production
Decreased survival time
Splenic Sequestration
Platelet Dilution
186
Give second set of etiology for thrombocytopenia
Folate/B12 ↓
Radiation
Chemotherapy
Artificial heart valves
Hypothermia
Massive blood transfusions
Infections
DIC
187
Give signs and symptoms and treatment for thrombocytopenia
S&S
Petechiae
Purpura
Intracranial hemorrhage
Prolonged bleeding time
Epistaxis
Rx – Remove the cause and transfuse. Administer pro clotting agents – vitamin K for example
188
What is thrombocytosis and name signs and symptoms
Excess release of preformed platelets (transient)
S&S
Paradoxical hemorrhage
Peripheral ischemia
Pulmonary emboli
189
What do coagulation disorders result from
Inappropriate activation of the clotting cascade
Inappropriate formation or stabilization of the fibrin clot
190
Describe hemophilia A and B
Inherited X-linked recessive bleeding disorder (A&B)
Due to Factor VIII deficiency (A)
Due to Factor IX deficiency (B)
Inability to form a fibrin clot
Hemophilia A is most common
191
What are the signs and symptoms of hemophilia A and B
S&S related to excessive bleeding
Prolonged bleeding from trauma
Spontaneous bleeding
Bruising
Hematomas
Hemarthrosis
Hematuria
GI bleeding
Intracranial bleeding
192
Describe diagnosis and treatment of hemophilia A and B
Dx – based on history, bleeding times and factor assay
Rx –
Lifestyle changes
Replacement therapy
Factor replacement
193
Describe von willebrand disease and the signs and symptoms
Autosomal dominant lack of a carrier protein for Factor VIII
S&S
Epitaxis
Rarely hemarthrosis
Menorrhagia
GI bleeding
194
What is epistaxis
A nose bleed
195
What is the diagnosis method and treatment for Von Willebrand disease
Medical history, bleeding times and factor assay
Rx- Desmopressin, hormonal suppression, replacement therapy
196
Describe vitamin K deficiency
Vitamin K is necessary for several clotting factors
Infants are deficient due to a sterile gut (bacteria produce vitamin k), liver immaturity (processes vitamin k) and low dietary intake of vitamin K
197
Give signs and symptoms and treatment for vitamin K deficiency
Melena
Hematuria
Intracranial hemorrhage
GI bleeding
Menorrhagia
Rx – Vitamin K replacement
198
What is melena
Black stool
199
What is hematuria
Blood in the urine
200
What is menorrhagia
Abnormally heavy bleeding at menstruation
201
Describe Disseminated Intravascular Coagulation (DIC)
Widespread intravascular thrombosis →widespread hemorrhage due to consumption of coagulation factors
Occurs 2ndary to malignancies, sepsis, snake bite, abruptio placenta, trauma, crush injuries, burns, shock, severe liver disease, incompatible blood transfusion, rickettsial infections
202
Give signs and symptoms of DIC
Petechiae
Ecchymoses
Orifice bleeding
Needle stick site bleeding
Dyspnea
Hemoptysis
Renal
203
What is dyspnea
Shallowness of breath
204
What is hemoptysis
Coughing up of blood
205
Describe the diagnosis and treatment of DIC
Clinical presentation and a series of coagulation studies
Rx-
Remove/correct cause
Replacement of clotting factors
Drug therapies
206
Describe anemia and give compensatory mechanisms
Disease indicator
Low hemoglobin
Low RBC
Diminished O2 carrying capacity
Tissue hypoxia thus fatigue, weakness, angina, pallor
Headache (HA)
Hypotension, lightheadedness, tinnitus
Compensatory mechanisms
↑HR, Palpitations,↑RR, ventricular hypertrophy
Bone pain
207
Describe the two classification structures for anemias
-cytic – morphology - size
normo
macro
micro
-chromic – color
normo
hypo
hyper
208
Name the 3 types of anemia
Hemolytic
Blood loss
Hemoglobinopathies
209
Name the 3 types of both acute and chronic blood loss anemia
Acute:
Normocytic
Normochromic
Dilutional
Chronic:
Iron-deficiency from depletion of iron
Microcytic
Hypochromic
210
Give the etiology of hemolytic anemia
Hemoglobinopathies
Blood transfusion reaction
Certain drugs:
Cephalosporins
Quinidine
Penicillin
Levodopa
Methyldopa
NSAIDs
211
What is a hemolytic anemia and what can it result in
Premature destruction of RBC
Primarily in the spleen
Also in the vascular space
Results in:
Retention of the by products of RBC lysis – jaundice & and bilirubin gallstones
Increase erythropoiesis
Results in splenomegaly
212
Name the two types of inherited hemolytic anemia
Sickle Cell Anemia
Thalessemia
213
What is sickle cell anemia, who is it most common in, and what triggers it
Autosomal Recessive Disorder
Abnormal Hg – HgS which is protective of malaria
Common in African, Middle Eastern & Mediterranean ancestry
RBCs sickle under stress/triggers:
Low oxygen
Low vascular volume
Cold stress
Infections
Acidosis
Extreme physical exertion
214
What causes the severe pain in sickle cell anemia and name the organ dysfunction it causes
Vaso-occlusion from cells that clump – severe pain.
Organ dysfunction
Extremities - necrosis
Joints – infarcts
Long bones
Kidneys
Lungs – acute chest syndrome
Spleen - ↑infections
215
Name 11 Signs and Symptoms of sickle cell anemia
Hemolysis of sickled cells
Splenomegaly
Asplenia
Hyperbilirubinemia
Sludging of RBCs
Necrosis from occlusions/infarcts
Infection leading cause of morbidity
Acute chest syndrome
Priapism in male
Retinal ischemia
Infections from necrosis and mortality especially before three years of age
216
Describe the treatments for sickle cell disease
avoid triggers
Hydroxyurea – stimulate HgF production
Oxygen
Hydration
Pain meds
Prophylactic antibiotics
217
Describe Thalassemia, who its most common in, and what happens
Autosomal Recessive
Individuals of *Mediterranean, Asian, or African American descent
Deficient Hg production & hypochromic microcytic anemia
Heinz bodies in the bone marrow impair RBC production
Accompanying hypercoagulability leads to strokes and pulmonary emboli
218
Give 7 signs and symptoms of thalassemia
Growth retardation without blood transfusions begun early
↑hematopoiesis → bone marrow expansion → bony abnormalities (chipmunk faces, fractures)
Splenomegaly
Hepatomegaly
Iron toxicities
Bone pain
Hyperbilirubinemia
219
What is the leading cause of morbidity in thalassemia
Infection
220
What is the treatment for thalassemia
Mostly preventative
Prevent infection
Blood transfusions to replace hemolyzed cells
221
Describe the etiology for acquired hemolytic anemia
Lysis of RBCs due to exogenous factors
Blood transfusions
Drugs
Chemicals
Venoms
Certain Infections
Prosthetic heart valves
Burn injuries
Vaculitis
222
Name 6 anemias of deficient RBC production
Iron deficiency anemia
Megaloblastic Anemia
Vitamin B12 deficiency
Folic Acid Deficiency
Aplastic Anemia
Chronic Disease Anemias
223
Describe iron deficiency anemia
Iron is recycled when RBCs are broken down
Chronic blood loss most common cause
Occurs also during growth spurts and pregnancy
Infants and children with high cow’s milk intake
Vegetarians
Elderly adults
Patients with GI disorders
224
Describe signs and symptoms of iron deficiency anemia
Fatigue
Weakness
Palpitations
Dyspnea
Angina
Brittle hair and nails
Increased HR
Waxy pallor
Low H & H (Hemoglobin and hematocrit)
Low iron stores
Low RBC count
Microcytic hypochromic RBCs
Pica
225
What is angina
Pain in the chest due to reduced bloodflow to the heart
226
What is pica
Compulsive swallowing of non-food items (ice is iron deficiency anemia)
227
Give etiology of megaloblastic anemia
Pregnancy
Breast Feeding
Alcohol Abuse
Certain Drugs
Advanced Age
GI disorders
Vitamin B12 deficiency
228
Give megaloblastic anemia pathophysiology and signs and symptoms
Folate deficiency results in a defect in DNA synthesis impacting rapidly dividing cells in the bone marrow
Open neural tube
S&S:
As to be expected for anemia
229
Give etiology of pernicious anemia (a type of megaloblastic anemia)
Alcoholics
Pregnant women
Anorexia
Lack of intrinsic factor
Achlorhydria
Vegetarians
230
Give pathogenesis of pernicious anemia
Large RBCs owing to Folic Acid deficiency or Vitamin B12 deficiency
Folic Acid and Vitamin B12 are necessary for DNA synthesis
Results in weak RBCs
Vitamin B12 deficiency anemia is accompanied by neuronal changes that lead to dementia and other neurological impairment
231
What are the signs and symptoms of pernicious anemia
Similar to Blood loss anemia
Additionally neurological manifestations:
Unsteady gait
Numbness and tingling
Balance problems
Memory impairment
Depression
232
Give etiology of aplastic anemia
Bone marrow depression leads to low RBCs, WBCs & platelets
Causes
Radiation
Drugs
Chemicals
Toxins
Infection
Autoimmune reactions
233
Describe clinical manifestations of aplastic anemia
Sudden or insidious onset
Weakness
Fatigue
Pallor
Petechiae
Eccochymoses
Bleeding
Frequent infections
234
What is the treatment for aplastic anemia
Rx – Bone marrow transplant
Graft vs Host reactions
RBC transfusions
Antibiotics
Immunosuppresion
235
Describe the causes of chronic disease anemia
Renal failure
Cancer
Chronic infection
AIDS
Rheumatoid arthritis
Systemic Lupus erythematosus
Hodgkins Dz
236
What does autosomal mean in the context of recessive and dominant genes
Autosomal simply means its on one of the numbered (non-sex) genes
237
What is macroorchidism
An increase in testicular size of twice what is normal for the age
238
Describe the human genome project
Research study from 1990-2003
Mapped the Human genome
Link thousands disease to specific genes
Opened the door for pharmacogenomics
239
compare dna to genes
DNA – composed of genes
Genes –carry directions for proteins and enzymes
240
Describe genes
The same in every cell (23,000).
Not all are active or expressed in all cells.
Mutations occur during duplication.
The effect of the mutation depends on when the mutation occurs.
Multiple genes reside together and form chromosomes.
241
Describe chromosomes
Store the genetic information created by DNA and RNA.
Arranged in pairs (one from Mom and one from Dad) in every cell.
Have specific structure
23 pairs
22 pairs are autosomes
1 pair is the sex chromosome
Karyotype is a picture of the 23 pairs of chromosomes
242
Describe gene regulation
Every cell contains all of a person’s DNA & genetic information.
Only active genes are expressed in cells.
Mutations occur when the gene code is damaged or changed.
Mutations of somatic cells cause disease.
Mutations of germ cells are passed to offspring.
243
Describe recombinant DNA technology
DNA is split
DNA may be altered
DNA is inserted into a one cell organism
The DNA replicates in the organism
Extraction
244
Compare congenital to genetic
Congential – present at birth.
Genetic – due to a genetic mutation.
245
Compare penetrance to expressivity
Penetrance refers to the likelihood your phenotype will reflect your genotype.
i.e., If you inherit the gene for colon cancer how likely are you to develop colon cancer.
Expressivity refers to how pronounced the phenotype will be.
i.e., If you inherit hypercholesterolemia just how high will your cholesterol be?
246
Describe x-linked disorders
Usually affect males – No extra X to balance
Fathers pass the defective gene to all of their daughters and none of their sons.
Mothers have a 1 in 2 chance of producing affect male offspring and a 1 in 2 chance of producing a carrier female child
Females are rarely affected – have to have 2 affected Xs
247
Describe marfan syndrome (autosomal dominant disorder)
Marfan Syndrome-Dz of connective, skeleton, eye, and cardiovascular systems
Skeleton – exaggerated length and thin extremities; Chest –pectus excavatum
Eyes- bilateral dislocation of the lens; myopia; and tendency to retinal detachment
*Cardiac – valvular abnormalities; rupture of the aorta
Nervous system – dura mater of the spinal cord
248
What are some physical manifestations of marfans
Long arms
Long fingers
Protruding sternum
Hypeflexible joints
Long narrow face
Small jaw
Overcrowded teeth
249
Describe huntington disease (autosomal dominant disorder)
Huntington Disease
Delayed neurological decline begins to appear around age 40.
Mental deterioration and involuntary arm and leg movement.
Onset – 35ish years & Fatal at 55ish years
250
Name four autosomal recessive disorders
Phenylketonuria
Tay-Sachs
Albinism
Cystic Fibrosis
251
Describe PKU
Phenylketonuria (PKU)
Lack an enzyme that degrades phenylalanine to a non toxic form.
Causes slow onset of mental retardation, microcephaly, delayed speech.
All babies have a blood test before hospital discharge to check for the enzyme.
Those lacking the enzyme need dietary (avoid protein, artificial sweeteners, diary) modifications.
252
Describe Tay-Sachs disease
Enzyme to metabolize fat is missing
Accumulation of lipids in neurological tissue
Displacement of neurological tissue
Appear normal for the first few months of life
Relentless neurological deficits appear – cherry red spot on the retina*, blind, deaf, paralysis, dementia, seizures, exaggerated startle response, dysphagia
Death near age 4 years
Highest risk in Jewish populations
253
Describe fragile x syndrome
Fragile X Syndrome – most common cause of inherited cognitive impairment
Mental retardation – slight or gross autistic-like behaviors (shyness, avoiding eye contact, attention deficits)
Long face with large mandible
Macroorchidism
Everted ears
Mitral valve prolapse
Hyper extensible joints
1 in 1,550 in males and 1 in 8,000 females births
254
Describe chromosomal disorders
Result during meiosis
Chromosome does not split correctly
Most frequently – abnormal numbers of chromosomes
255
Describe trisomy 21 (down's syndrome)
THE most common chromosomal disorder
Risk increases as maternal age increases
Features
Rather square head
Upward slant of the eyes
Malformed, low set ears
Fat pad at back of neck
Open mouth
Protruding tongue
Increased risk of leukemia and Alzheimer Disease development
256
Describe turner syndrome (monosomyx)
Short statue
Webbed neck – elastic neck
Puffy hands and feet at birth
Coarctation of the aorta
No puberty, no ovaries, sterile
Abnormal kidney, heart
Hypothyroidism
Scoliosis
257
Describe klinefelters syndrome (polysomy x)
Extra X chromosome
Males develop some female secondary sex characteristics
Breasts
Lack of facial & chest hair
Statue (short torso, long extremities)- tall overall
High pitched voice
Lack of testicular development
258
What is multifactorial inheritance
Inherit a predisposition to develop various disorders and the a triggers in the environment contribute to disease development.
No direct gene linkage
259
Give examples of multifactorial inheritance
Coronary artery dz
Diabetes mellitus
Hypertension
Cancer
Manic depression
Schizophrenia
Cleft lip/cleft palate
260
What is an environmentally influenced disorder
Exposure during the first 60 days post conception has the most pronounced effect.
261
Give 5 types of prenatal diagnosis techniques
Ultrasonography – visual exam of structure and function
Alpha fetoprotein – maternal blood test -open neural tube or open ventral wall
Amniocentesis – amniotic fluid sample -chromosomal defects
Chorionic Villus Sampling – placental biopsy - genetic defects
Percutaneous umbilical blood sampling- collection of cord blood to determine genetic defects
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