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Diagnostic Methods Sem 1 > Week 5 (exam 2) > Flashcards

Week 5 (exam 2) Flashcards

1
Q

What is the purpose of genetic testing?

A

used to IDENTIFY PREDISPOSITION to a disease

done in CONJUNCTION WITH obtaining a detailed FAMILY HISTORY

ASSIST in determining if PREVENTATIVE MEDICINE OR SURGERY is needed

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2
Q

What are the examples of genetic testing

A

Predictive Testing
- BRCA testing
Diagnostic Testing
- HLA B27
Carrier Testing
- CF gene
pharmacogenetic testing
- medications for depression
- if multiple medications are not working

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3
Q

Define predictive testing

A

tells if a person is carrying a mutation that will cause or put the patient at higher risk for a disease later in life
- ex: BRCA testing

knowledge of a predictive disease can change patient behavior or clinical intervention
- suicide, lifestyle modifications

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4
Q

What are some disadvantages of genetic testing

A

financial discrimination
- some health insurances don’t cover

expensive
- not covered by insurance

information
- may cause anxiety/increased emotions

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5
Q

What is not a reliable proxy for genetic difference

A

race

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6
Q

What is more predictive than race in determining influence on health

A

geographic ancestry

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7
Q

Define race

A

refers to a group sharing outward physical characteristics and some commonalities of culture and history
- ex: skin color, hair texture, height/build

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8
Q

Define ethnicity

A

markers acquired from the group with which one shares cultural, traditional, and familial bonds
- ex: behaviors, cultural expression

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9
Q

When would you order genetic screening?

A

based on ethnicity (not race) and family history
- geographic location is best

Examples:
inherited (thalassemia –> Africa, SE Asia, Central American, Mediterranean)

sickle cell disease (Africa, SE Asia, Central American, Mediterranean)

cystic fibrosis (European, eastern European Jewish)

spinal muscular atrophy (varies greatly based on ethnic background)

tay sachs (eastern European Jewish)

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10
Q

What is PCR

A

fast, inexpensive techniques used to amplify (copy) small segments of DNA

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11
Q

What are the indications for PCR

A

when DNA sample is small/limited
- common ex: COVID test

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12
Q

What are the methods of PCR

A

sample is heated –> DNA denatures into single-stranded DNA

taq polymerase (enzyme) builds two new strands of DNA using original strains

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13
Q

What are examples of PCR

A

DNA fingerprinting

detecting viruses and bacteria
- influenza, covid, aids

genetic disorders
- aneuploidy, muscular dystrophy, prenatal screenings

cancers

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14
Q

What is blot testing

A

when a macromolecule (DNA, RNA, protein) is resolved in a gel matrix, transferred to a solid support, and detected with a specific probe

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15
Q

What are the types of blot testing

A

southern blots
- DNAs are transferred to paper and specific nucleotide sequences are detected

northern blots
- RNAs are transferred to paper and specific nucleotide sequences are detected

western blots
-proteins are transferred to paper and specific nucleotide sequences are detected

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16
Q

What are the indications for blot testing

A

western: to detect HIV or LYME

southern: to analyze DNA sequences or genome
- forensic and paternity testing

northern: to detect gene expression
- most expensive

SNOW DROP
S&D: southern&dna
N&R: northern&RNA
O&O: O
W&P: western&protein

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17
Q

What is flow cytometry

A

lab technique to assess size, granularity and protein expression of an individual cell

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18
Q

What are the indications for flow cytometry

A

staging/cell types of acute leukemias

HIV monitoring

Rh isoimmunization

detection of CD34+ stem cells

NOT IN RED:
reticulocyte counting
detection of autoantibodies
T-cell cross-matching for transplant
- recipient vs donor

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18
Q

What is ELISA

A

enzyme linked immunosorbant assay

immunologic test used to detect the presence of either a specific antigen (HBsAg) or antibody (anti-HBs) in a patient’s blood
- detection involves the use of antibody linked to an enzyme

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18
Q

What are the indications for ELISA

A

viral testing (influenza, ebola, west nile, HIV), lyme, RMSf
- RMSF: rocky mountain spotted fever
- first line testing for HIV
- blood borne viruses (HBV, HCV, HIV)

bacterial testing

NOT IN RED:
home pregnancy tests, food allergies, hemolytic anemia

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19
Q

Explain karyotyping

A

analysis of chromosomes
- size, shape, and number of chromosomes

a photograph of the complete diploid set of chromosomes
- grouped in pairs
- descending in size

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20
Q

What are the methods of karyotyping

A

blood test
bone aspiration/bx
amniocentesis
CVS (chorionic villus sample)
- placenta while baby is in utero

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21
Q

Examples of conditions seen in karyotyping

A

down syndromes

trisomies

turner syndrome
- missing an X chromosome

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22
Q

What is FISH

A

one method for localizing a piece of DNA within a genome
- fluorescent DNA/RNA probe binds to specific gene site of interest on chromosomes

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23
What are the indications for FISH
used for specific localization of genes and direct visualization of chromosomal anomalies at the molecular level - microdeletion - translocation - duplication
24
What is a microarray
a laboratory tool used to detect the expression of thousands of genes at the same time - whether the DNA from a particular individual contains a mutation in genes - expensive
25
What are the indications for a microarray
classification of tumors identification of target genes of tumor suppressors identification of cancer biomarkers identification of genes associated with chemoresistance NOT IN RED identification of SNPs and mutations drug discovery
26
What are the methods of a microarray
high throughput dot blot for man mutation testing at once
27
What are the indications for cfDNA
screening for trisomy and other chromosomal disorders of the fetus/baby identification of sex
27
What is cfDNA
cell-free DNA screening pre-natal blood test for pregnant women - some of the unborn fetus DNA circulates in the mother's bloodstream
28
What is the method for cfDNA
blood test at or above 10 weeks
29
What makes cfDNA less effective
pregnancy with multiples BMI>30 pregnant via donor egg <10 weeks pregnant on blood thinners
30
What is stool DNA testing
noninvasive lab test that identifies DNA changes in the cells of a stool sample DOES NOT REPLACE A COLONOSCOPY
31
What are the indications for stool testing
screening should start at age 45 - if family hx, at least 5 years prior to when family members had it often detects the presence of colon cancer
32
What is the method for stool testing
cologuard - looks at genes related to CRC - 90% sensitive
33
What are the three non-invasive colorectal cancer screenings
1. fecal occult blood test (FOBT-Heme) - limited by intermittent bleeding - requires 3 stool samples - dietary restrictions 2. fecal immunochemical test (FIT-globin protein) - limited by intermittent bleeding - single stool specimen - no dietary restrictions 3. stool DNA - precancerous/cancerous cells continuously exfoliated - single stool specimen - no dietary restrictions
34
What is CBC
blood test that is used to evaluate overall health - give important info about WBC, RBC and platelets can aid in diagnosing conditions - anemia, infection, leukemia can help with disease staging - leukemia assist in the evaluation of symptoms - weakness, fatigue, fever, bruising, etc
35
What are the components of CBC
WBC (with differential) HgB (hemoglobin) Hct (hematocrit) Plt (platelets) RBC RBC indices - measure the size and hemoglobin content of RBC
35
What are the formed elements of blood
RBC WBC platelets
36
Define leukocyte
WBC
37
Define granulocyte
WBC with secretory granules in cytoplasm - neutrophil, basophil, eosinophil
38
Define nongranulocyte
mononuclear WBC - lymphocyte, monocyte
39
Define leukocytosis
increased WBC count (>10,000)
40
Define leukopenia
decreased total WBC count (<4,000)
41
Define polymorphonuclear leukocytosis (PMNs/polys)
another name for neutrophils
42
Define phagocytosis
killing and digestion of bacterial microorganisms
43
What is the major function of WBC
fight infection - react against foreign bodies or tissues
44
What does an increase in total WBC count mean
infection malignancy leukemia etc *bacteria increases WBC
45
What does a decrease in WBC mean
bone marrow failure drug toxicity autoimmune disease viral disease *virus decreases WBC
46
What are the 2 components of WBC
total number differential count
47
What does the differential count for WBC do/help
measures the percentage of each type of leukocyte present in the same specimen increased WBC tells you there is an infection, the differential can help narrow down cause of infection
48
What are the critical values of WBC
<2000 OR >40,000
49
What are the factors that can interfere with WBC results
exercise - decreases stress - increases h/o splenectomy - increases time - lower in AM and increase in PM age - in order pts, WBC will be increased in an active infection certain drugs
50
What is the main cause of leukocytosis What are other causes
the main cause of an increase in WBC (>10,000) is an infection leukemia other myeloproliferative disorders - systemic mastocytosis - eosinophilia other malignancies trauma/stress/hemorrhage tissue necrosis inflammation dehydration steroid use
51
What is the main cause of leukopenia What are other causes
the main cause of a decrease in WBC (<4000) is drug toxicity - cytotoxic chemotherapy bone marrow failure sepsis (end stage) - body trying to so hard to defeat infection, stores become depleted dietary deficiencies autoimmune disease hypersplenism
52
Describe neutrophils
- most common granulocyte - primary function; phagocytosis - multilobulated nuclei - produced in 7-14 days and only live for 6 hours *** seen in bacterial infection and trauma --- results in elevated WBC - immature form called band cells - when neutrophil production significantly stimulated, these immature forms leak into circulation (aka left shift)
53
Define absolute neutrophil count (ANC)
WBC x (% neutrophils + % bands) / 100 helps determine patients real risk of infection ANC less than 1000 may need to consider protective isolation
54
Describe neutrophilia
increased neutrophil count associated with: increased production, increased marrow release, and defective margination most important acute cause is infection
55
Describe neutropenia
decreased neutrophil count associated with: depressed production, increased peripheral destruction, excessive peripheral pooling common causes: myelotoxic drugs (drug therapy/chemotherapy), aplastic anemia, viral infections
56
What is a major consequence of neutropenia for a patient?
infection viral infection caused a decrease in WBC --> easy for bacterial infection to come in
57
Describe eosinophils
involved in allergic reactions - amount increases as allergic reaction increases releases histamine does NOT respond to bacterial and viral infections
58
What are the common causes of eosinophilia
- parasitic infections - allergic reactions - adrenal insufficiency - inflammatory/immune
59
What are the common causes of eosinopenia
corticosteroid treatment - steroid suppression of WBC
60
Describe basophils
rarest of granulocytes similar to tissue mast cells cytoplasm contains heparin, histamine, serotonin involved in allergic reactions - dont respond to bacterial or viral infections infiltrate tissue involved in allergic reaction and further the inflammatory reaction reaction decreases, count decreases
61
What are the common causes of basophilia
hypothyroidism splenectomy
62
What are the common causes of basopenia
hyperthyroidism pregnancy drugs: - chemotherapy - glucocorticoids
63
Describe lymphocytes
nongranulocyte primary function: fight chronic bacterial and acute viral infections 2 types: - B cells - T cells * differential count does not differentiate between B cells and T cells
64
Describe B cells
involved in humoral immunity directed toward extracellular pathogens produce antibodies that bind to antigens mature in bone marrow
65
Describe T cells
AKA killer cells, suppressor cells, T4 helper cells directed toward intracellular pathogens do NOT involve antibodies mature in thymus
66
What are the common causes of lymphocytosis
chronic bacterial infection (TB) viral infection (Mumps, rubella, and pneumonia) infectious mononucleosis, infectious hepatitis, cholera, brucellosis, syphilis, toxoplasmosis pertussis
67
What are the common causes of lymphocytopenia
HIV - acute viral infection idiopathic causes, chronic HIV, drugs, corticosteroids, radiation therapy, and cancer therapy causes (neoplastics): carcinoma, lymphoma
68
Describe monocytes
devleop from monoblass nongranulocyte phagocytes produce interferon produced more rapidly and longer time in circulation - difference between neutrophils
69
What are the common causes of monocytosis
bacterial infections viral infections - monoculosis inflammatory conditions protozoal infections - malaria rickettsial disorders
70
What are the common causes of monocytopenia
HIV, aplastic anemia, hairy cell leukemia, drug therapy (steroids --> prednisone)
71
Write out the Leukemia chart (slide 43)
72
Define RBC count
the number of circulating rbc in 1mm3 of peripheral venous blood lives in the blood circulation for 120 days (4 months) at end of life, rbc is lysed and extracted from circulation by spleen
73
What increases RBC production
erythropoietin is secreted by the kidneys, which increases RBC production
74
What decreases RBC count
pregnancy - normal body fluid increases, resulting in dilutional decreased RBC - nutritional deficiency drugs - meds that decrease marrow production - meds that cause hemolysis
75
What increases RBC count
living in high altitudes - low O2, produce more rbc to compensate dehydration - concentrated drugs - erythropoietin, gentamicin
76
Patients with low RBC value are said to be
anemic
77
What is the most common cause of decreased RBC count
anemia
78
Describe erythrocytosis
high RBC value body requires need for greater O2 carrying capacity
79
What is another cause of erythrocytosis
secondary to illness COPD severe dehydration hemoglobinopathies
80
What is a reticulocyte count
blood test that measures how fast immature rbc are made by the bone marrow and released into the blood in the blood for 2 DAYS before maturing into rbc
81
What do Hgb (hemoglobins) do
Hgb is a protein molecule found in rbc that carries oxygen from the lungs to the rest of the body
82
What is the importance of Hgb
vehicle oxygen transport throughout circulation - low Hgb = not able to carry as much O2 to body
83
What are the critical values of Hgb
less than 7 or above 21
84
What are the interfering factors of Hgb
pregnancy - slight decrease values highest in the AM and lower in the PM heavy smokers have higher Hgb levels living in high attitudes drugs
85
If Hgb is critically low, what are we at risk for
fainting, angina (chest pain), myocardial infarction, cardio heart failure, and stroke
86
If Hgb is too high/much, what are we at risk for
intravascular sludging this leads to a stoke and other organ infarction - due to being backed up, oxygen/blood doesn't get delivered to specific sites
87
What is Hct
Indirect measure of RBC number and volume measures % of total blood volume made up of RBC
88
Write out the red cell indices chart (slide 74)
89
define -cytic
refers to size
90
define -chromic
refers to color
91
What are interfering factors for red cell indices
abnormal RBC size increased WBC elevation in lipid levels
92
Define mean corpuscular volume
measures the average volume/size of a single RBC - used to classify anemias
93
What does increased MCV mean
macrocytic abnormally large rbc size
94
What does decreased MCV mean
microcytic abnormally small rbc size
95
What causes macrocytic anemia
vitamin B12 folate deficiency (most common cause)
96
What increases MCV
pernicious anemia folic acid deficiency - most common cause of macrocytic anemia alcoholism - secondary to malnutrition chronic liver disease
97
What causes microcytic anemia
iron deficiency anemia, thalassemia, lead poisoning, and anemia of chronic illness/disease
98
What does MCH mean
mean corpuscular Hg measures average amount of hemoglobin within an RBC
99
What increases and decreases MCH
increases: macrocytic anemias - MCH increases as size of RBC increases decreases: microcytic anemias and hypochromic anemias - MCH decreases as size of RBC decreases
100
What does MCHC mean
measure of the average concentration or percentage of hemoglobin within a single RBC
101
Decreased MCHC means
deficiency of hemoglobin - hypochromic
102
What increases and decreases MCHC
increases: spherocytosis, IV hemolysis, cold agglutinins decreases: iron deficiency anemia, thalassemia
103
What is RDW
red blood cell distribution width - indicates variation in RBC size measured using MCV and RBC values indicates a degree of anisocytosis - blood condition characterized by RBC's of variable and abnormal size
104
What can increase RDW
iron deficiency ANEMIA hemoglobinopathies - sickle cell

Diagnostic Methods Sem 1 (11 decks)

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