Final Exam Flashcards
(214 cards)
1
Q
T/F: Carcinogenesis occurs from one or two genetic alterations
A
False: …results from many genetic alterations
2
Q
What are the 3 classes of extrinsic carcinogenic agents?
A
Chemical
Radiant Energy
Microbial
3
Q
T/F: Direct acting chemical carcinogens require metabolic conversion first.
A
False: direct acting=no metabolic conversion
indirect acting=requires metabolic conversion
4
Q
Smoked meat is an example of a direct or indirect acting chemical carcinogen.
A
Indirect
5
Q
Aflatoxin B1, found on the shell of ___, typically mutates TP53.
A
Peanuts
6
Q
T/F: Following initiator-promotion sequence, the promoter must follow exposure to chemical mutagen.
A
True
7
Q
What is irradiation?
A
High energy waves capable of ionizing atoms and having mutagenic effects.
8
Q
Hiroshima victims would be an example of what type of external carcinogenic agent?
A
Radiation carcinogenesis
9
Q
What is the most common skin cancer?
A
Basal cell carcinoma
10
Q
What is the most common form of cancer in the US, (it actually contradicts the statement at the beginning of the packet)?
A
Skin cancer (yes it says prostate & breast in the beginning of the packet..idk)
11
Q
What is the Human T Cell lymphotropic virus 1 (HTLV-1)?
A
Oncogenic virus spread via bodily fluids increasing likelihood of T Cell lymphoma/leukemia
12
Q
What gene should you associate HTLV-1 with?
A
TAX gene
13
Q
What are the 4 oncogenic DNA viruses?
A
- HPV
- EBV (HHV4)
- HBV, HCV (Hep B and C)
- Kaposi sarcoma herpesvirus (KSHV or HHV8)
14
Q
What types of HPV cause relatively benign papillomas?
A
HPV6 and HPV11
15
Q
What types of HPV cause squamous cell carcinoma?
A
HPV16 and HPV18
16
Q
T/F: Human papilloma virus is known for activating retinoblastoma (Rb) and decreasing growth.
A
False: Rb DEactivation and INCR growth
17
Q
What was the first oncovirus discovered?
A
Epstein Barr Virus
18
Q
Is the EBV more likely to cause T cell or B cell cancers?
A
B Cell cancers like Hodgkin Lymphoma
19
Q
Which type of cancer are the Hepatitis B and C viruses associated with?
A
Liver CA (hepatocellular carcinoma)
20
Q
HBV and HCV is still prevalent in which two regions of the world?
A
Africa and SE Asia
21
Q
Which organism was the 1st “cancer bacteria” discovered and also causes 90% of peptic ulcer disease?
A
Helicobacter pylori
22
Q
T/F: 90% of Helicobacter pylori infections lead to cancer.
A
False: 3% progress to cancer
23
Q
Which 3 immune cell types have antitumor effector mechanisms?
A
T Killer cells, NK cells, Macrophages
24
Q
What is the most common cancer among immunocompromised individuals?
A
B Cell lymphomas
25
What is "wasting syndrome"?
(Cachexia) Unexplained weight loss that is irreversible even with nutrition changes; typically accompanies end stage cancer
26
What are paraneoplastic syndromes?
Features that show up around the time of cancer development
27
What % of cancer patients exhibit paraneoplastic syndrome?
10-15%
28
List 3 ways of diagnosing cancer
1. Biopsy
2. Fine-needle aspiration
3. Cytologic smear
29
T/F: Tumor markers are non-diagnostic enzymes or hormones that can be used for screening for cancer.
True
30
T/F: The number of genes present correlates to the complexity of the species.
False: otherwise a flea would be more complex than us
31
T/F: All hereditary disorders are congenital but not all congenital disorders are hereditary.
True: congenital simply means present at birth
32
What is a point mutation?
a nucleotide base is replaced by another
33
The insertion/deletion of 1 or 2 nucleotides resulting in an altered reading frame is called a ___ mutation.
Frameshift
34
What does pleiotropy mean?
A single mutation having various phenotypic effects, ex: Li Fraumeni Syndrome or Marfan Syndrome
35
In an autosomal dominant disorder with one parent affected, what is the offsprings chance of disorder manifesting?
50% and males/females affected equally
36
What is reduced penetrance and give an example?
They have the mutation but still phenotypically normal; example is BRCA1 and BRCA2 genes
37
In an autosomal recessive disorder with both parents being carriers, what % of offspring will be affected? Carriers?
25% normal
50% carriers
25% affected
38
How are X-linked recessive disorders passed?
By carrier mother, affects 50% of male offspring and 50% of female offspring will be carriers
39
Genetically, what is Marfan Syndrome?
Aut. Dominant syndrome leading to Fibrillin gene mutation
40
What does pathognomic mean?
No single sign is definitive of having a disorder
41
What disorder likely possesses long limbs, joint hypermobility, chest deformities, and an elongated face?
Marfan syndrome
42
What is pes planovalgus?
Flat feet; can be associated with Marfan Syndrome
43
What structure is defective in individuals with Ehlers-Danlos Syndrome?
Defective collagen--> hyperextensible skin and hypermobile joints
44
Is familial hypercholesterolemia an autosomal dominant or recessive disorder and what does it affect?
Autosomal dominant defect of LDL receptor
45
Which subtype of familial hypercholesterolemia has a childhood onset and is much more severe?
Homozygous; (heterozygous is adult onset and less severe)
46
What are xanthomas and which disease are they characteristic to?
Cholesterol deposits on tendons seen in familial hypercholesterolemia
47
What is the likely cause of death in individuals with Marfan syndrome?
Ruptured aorta
48
T/F: Cystic fibrosis is an autosomal dominant disorder affecting the CFTR gene.
False: autosomal recessive
49
Which disorder would likely show a positive Steinberg sign: Cystic Fibrosis, Ehler-Danlos, or Marfan Syndrome
Marfan Syndrome
50
What is the most lethal genetic disease in Caucasians?
Cystic fibrosis
51
How do people with Cystic Fibrosis usually die?
Chronic pulmonary infections
52
Phenylketonuria is an autosomal ___ disorder resulting in the accumulation of ___.
Recessive; phenylalanine
53
A "salty kiss" may be the first sign a baby may have ___ ___.
Cystic Fibrosis
54
Which genetic disorder can exhibit a musty or mousy odor to their urine/sweat?
Phenylketonuria (PKU)
55
Why do individuals with phenylketonuria exhibit decreased pigmentation that can be confused for albinism?
Lack phenylalanine, a precursor for tyrosine (which is a precursor for melanin)
56
Galactosemia is an autosomal ___ disorder affecting what enzyme?
Recessive; GALT
57
In babies with phenylketonuria, mental disabilities can be avoided if what is restricted and what is supplemented?
Restrict phenylalanine since it can't be broken down...
| supplement tyrosine
58
What should be restricted in individuals with galactosemia?
Galactose
59
Which organ is likely to be enlarged in babies with galactosemia?
Liver resulting in outward jaundice
60
Lysosomal storage diseases lack which enzymes?
Lysosomal enzymes (autosomal recessive)
61
What are the 5 LSD's?
```
Tay Sach's
Niemann Pick Types A & B
Niemann Pick Type C
Gaucher
Mucopolysaccaridosis
```
62
The inability to metabolize Gm2 gangliosides is characteristic of which LSD?
Tay-Sach's Dz
63
Which enzyme is mutated with Tay Sach's Dz?
Hexosaminidase A enzyme
64
This disease with cherry red central macula is typically fatal by age 2-3.
Tay Sach's Dz
65
What accumulates in Niemann-Pick Dz Type A&B?
Sphingomyelin accumulates --> enlarged spleen and liver
66
Which is most severe and typically fatal by age 3: Niemann Pick Type A, B or C?
N.P Type A
67
Niemann Pick Type B varies from A in that it shows no ____ damage.
Neuronal
68
Which is the most common and has defective lipid transport: Niemann Pick Type A, B or C?
N.P Type C
69
What 3 things accumulate in Niemann Pick Type C?
1. Cholesterol
2. Gm1 gangliosides
3. Gm2 gangliosides
70
What is mutated in Niemann Pick Type C?
NPC1 or NPC2
71
____ gene is mutated in Gaucher Dz leading to the accumulation of ____.
Glucocerebrosidase gene mutated;
| Glucocerebrosides accumulate
72
T/F: Gaucher cells are enlarged liver cells
False: enlarged phagocytes but a common symptom of Gauchers is hepatosplenomegaly
73
What is pancytopenia?
reduction in all blood cells resulting in anemia and easy bruising (associated with Gaucher's Dz)
74
99% of individuals with Gauchers have the Type__ which is less severe with no neuro disturbances.
Type 1
75
T/F: Wrinkled tissue paper cytoplasm and Erlenmeyer's flask deformity are characteristic of Gaucher Dz.
True
76
What 2 LSD's are Ashkenazi Jews particularly vulnerable to?
1. Tay Sach's Dz
| 2. Gaucher's Dz
77
What is mucopolysaccharidosis?
Group of disorders regarding deficiency in ECM breakdown enzymes
78
What are the two types of mucopolysaccharidosis'?
```
Type 1 (Hurler)
Type 2 (Hunter)
```
79
Alpha-L-iduronidase deficiency=____ Syndrome
| L-iduronate sulfatase deficiency= ____ Syndrome
Alpha...=Hurler
| L-idur....=Hunter
80
Which syndrome is X-Linked: Hurler or Hunter?
Hunter
81
Which syndrome is lethal by 6-10 years: Hurler or Hunter?
Hurler, Hunters is more mild
82
Which syndrome accumulates heparin sulfate and dermatan sulfate: Hurler or Hunter?
Both!
83
What is the shorter name for glycogen storage diseases?
Glycogenoses
84
Which autosomal recessive disorder involves abnormal glycogen metabolism?
Glycogenoses
85
Match the following:
von Gierke Dz muscle phosphorylase
McArdle Dz glucose 6 phosphatase
Pompe Dz lysosomal acid maltase
von Gierke-glu6phosphatase
McArdle-muscle phosphorylase
Pompe-lysosomal acid maltase
86
Which glycogen storage disease results in muscle weakness and cramps, and myoglobinurea?
McArdles Dz
87
Which lysosomal storage disease is lethal by age 2?
Pompe: note that it's technically a LSD not a GSD
88
Which GSD results in hepatomegaly and hypoglycemia?
von Gierke
89
What causes 50% of spontaneous first tri abortions?
Cytogenic disorders
90
T/F: In general a loss of genetic material is more severe than a gain of genetic material.
True
91
What is Trisomy 18: Down, Edwards, Patau, or Cri du chat Syndrome?
18-Edwards
92
Which chromosome is fragmented in Cri du Chat Syndrome?
5th Chromosome
93
Which trisomy is lethal by 1 year old 80% of the time?
Trisomy 13- Patau Syndrome
94
T/F: Down Syndrome is the most common of the trisomies.
True
95
What is the relationship between maternal age and Trisomy 21 incidence?
The older the mother, the increased incidence
96
Up to 30% of Down Syndrome have ___ ___ instability.
Atlanto-axial
97
DiGeorge Syndrome and Velocardiofacial Syndrome are associated with the deletion of what?
Deletion of band 11 on chromosome 22 (22q11.2)
98
Which cytogenic disorder involves simian creases, epicanthic folds, and a flat facial profile?
Trisomy 21/Down Syndrome
99
DiGeorge Syndrome has a decrease in which immune cell immunity?
T-Cell immunity
100
____ Syndrome appears male whereas ___ Syndrome appears female.
Klinefelter=male
| Turner=female
101
T/F: Klinefelter Syndrome involves and extra X on a male resulting in hypogonadism and sterility.
True
102
What are the 2 risks associated with Klinefelter Syndrome?
Incr maternal age, irradiation
103
An absence of 1 X chromosome resulting in short stature, amenorrhea, and neck webbing is associated with ____ Syndrome.
Turner Syndrome
104
T/F: Fragile X Syndrome affects primarily females.
False: males
105
T/F: 20% of males affected with Fragile X are phenotypically normal.
True
106
T/F: An example of mitochondrial gene mutation disorder is Leber hereditary optic neuropathy.
True
107
In a mitochondrial gene mutation an affected mom will have ___ affected children and an affected dad will have ___ affected children.
mom-->all affected kids
| dad-->no affected kids
108
What is Angelman's syndrome, genetically speaking?
Paternal imprinting
| Maternal deletion of 15q12
109
What is the syndrome with maternal imprinting and paternal deletion of 15q12?
Prader Willi Syndrome
110
T/F: Prader Willi Syndrome involves ataxia and inappropriate laughter.
False: Angelmans Syndrome
111
What is the MC cause of death in kids under 1 yr of age?
Congenital malformation or chromosomal abnormality
112
Between 1-4 yrs old, where does congenital malformation/chromosomal abnormality fall on list of leading cause of death?
2nd to Accidents
113
What are the 2 methods of perinatal infections?
Transcervical/ascending
| Transplacental/descending
114
What is TORCH?
Pathogens known for causing dz by crossing the placenta. (Toxoplasma, Other, Rubella virus, CMV, Herpes Simplex Virus)
115
T/F: It's more common for bacteria to infect transcervically than for viruses.
True
116
What is considered "premature"?
Less than 37 weeks gestation
117
Type II pneumocytes produce surfactant, which is decreased in ___ ____ Syndrome.
Respiratory Distress Syndrome
118
T/F: 60% of infants born under 28 weeks gestation have RDS.
True
119
What is atelectasis?
Difficulty in inflating alveoli due to decreased surfactant production in RDS
120
Where is necrotizing enterocolitis most common?
Cecum, ileum, and ascending colon
121
When is SIDS most common?
Between the ages of 2-4 months
122
What is the 2nd most common cause of death in infants under 1 yr? 3rd most common?
Low birth weight=2nd
| SIDS=3rd
123
What are 4 risk factors associated with SIDS?
1. Prone sleeping
2. Soft bedding
3. Bed Co Sharing
4. Thermal stress
124
What is the triple risk model and what disease is it associated with?
3 risks associated with SIDS, 1. vulnerable infant 2. critical development period 3. exogenous stressor
125
T/F: Hydrops fetalis and cystic hygroma are both lethal to infants.
False: cystic hygroma may not be lethal
126
What is fetal hydrops?
Accumulation of severe edema likely due to chromosomal abnormalities, (but may be due to antibody induced hemolysis)
127
What are the 3 benign pediatric tumors?
Hemangioma
Lymphangioma
Sacrococcygeal teratomas
128
Which benign pediatric tumor usually self resolves by age 7?
Hemangioma
129
What is the most common germ cell tumor of childhood?
Sacrococcygeal teratomas
130
T/F: Sacrococcygeal teratomas are likely benign and external.
True
131
T/F: Spontaneous regression is more likely in pediatric malignant tumors.
True
132
Neuroblastomas are benign or malignant?
malignant
133
Homer-Wright pseudo-rosettes are associated with ___- but Flexner-Wintersteiner rosettes are associated with ____.
Pseudo-rosettes=neuroblastoma
| Rosettes=retinoblastoma
134
What is a Homer-Wright pseudo-rosette?
Neutrophil surrounded by tumor cells, likely secreting catecholamines like NE
135
T/F: "Blueberry muffin baby" is characteristic of retinoblastoma.
False: blueberry muffin baby-neuroblastoma
136
What are the common sites of mets for neuroblastoma?
Liver, lungs, and bone marrow
137
What is the most common pediatric eye malignancy?
Retinoblastoma
138
Is sporadic or genetic retinoblastoma more common?
Sporadic 60%
| Genetic 40%
139
What are Flexner-Wintersteiner rosettes?
Cuboidal cells surrounding empty lumen
140
T/F: Wilm's Tumor, or nephroblastoma, is a malignant pediatric kidney tumor commonly affecting 2-5 year olds.
True
141
T/F: Less than 1% of chemicals used in the US have been tested for health impact
True
142
What does xenobiotic mean?
Chemicals not produced or expected in an organism but still found inside it
143
What organ is most vulnerable to environmental pollution?
Lungs
144
Which colorless, odorless gas is the result of incomplete oxidation of fossil fuels?
Carbon Monoxide
145
Which type of poisoning is the result of occupational fumes of carbon monoxide: acute or chronic?
Chronic
146
Which type of outdoor air pollution results in cherry red skin and mucus membranes?
Acute Carbon Monoxide poisoning
147
T/F: Hemoglobin has a higher affinity for oxygen than carbon monoxide making life possible.
False: Hemoglobin has 200x affinity for CO than O2
148
What is the most common indoor pollutant?
Tobacco smoke
149
____ are airborne particles that contain or were from living organisms.
Bioaerosols
150
Which colorless, odorless gas occurs naturally from the uranium decay in the soil?
Radon
151
Radon increases the risk for what type of cancer?
Lung cancer
152
Do adults or children have higher lead absorption with irreversible damage?
Children
153
What types of fish have the highest levels of mercury?
Largest, oldest, carnivorous fish
154
T/F: There has been no association with thimerosal and autism spectrum disorder.
True
155
Which environmental pollutant occurs naturally in the soil and increases the risk for skin and lung cancer?
Arsenic
156
What 3 areas of the body does cadmium damage primarily?
Lungs, kidneys, bone
157
What is Itai-itai disease?
Bone loss and renal failure associated with cadmium pollution
158
What is a "pack year"?
(Packs smoked per day) x (years smoked)
| to calculate tobacco exposure
159
What % of lung cancer diagnoses are smokers?
90%
160
T/F: Alcohol is absorbed unaltered in the stomach and SI then metabolized in liver.
True
161
50% of Asians have a defective from of ____ ___ causing tachycardia, tachypnea, and flushing.
acetaldehyde dehydrogenase
162
Chronic alcoholism can cause thiamine (B1) deficiency leading to ____ Syndrome.
Korsakoff Syndrome
163
T/F: Fetal Alcohol Syndrome results in CNS damage, megalocephaly, and spontaneous abortion.
False: CNS damage, microcephaly and facial malformation
164
T/F: Oral contraceptives can protect against endometrial and ovarian cancers.
True
165
Which therapeutic drug can cause jaundice and accidental overdose due to its relatively low toxic dose?
Acetaminophen
166
What is the clinical abbreviation for acetaminophen?
APAP
167
T/F: ASP is the clinical abbreviation for aspirin.
False: Aspirin is ASA
168
T/F: Aspirin is a more effective antipyretic than acetaminophen
True
169
T/F: Cocaine toxicity is related to it's purity, not the dose.
True
170
Is cocaine addictive?
Psychologically yes
171
Which recreational drug is an opioid derived from the poppy plant?
Heroin
172
What side of the heart is most affected by heroin use?
Right side (and lungs) b/c injected intravenously
173
What is the MC used illicit drug?
Marijuana
174
T/F: A thermal injury is a heat related injury
False: It can be excessive heat or cold
175
What are the two important parts of treating burn victims?
1. Replace fluids and electrolytes
| 2. Manage infections
176
Hypovolemic shock results when burns cover over __% of the body surface.
20%
177
What is the most common pathogen associated with burn victims?
Pseudomonas aeruginosa
178
What is the key characteristic regarding heat stroke?
Loss of thermoregulation so victim won't be sweating
179
What are the MC sources of irradiation?
X rays and Gamma rays
180
How much exposure to irradiation is man-made?
20%, the rest is from the environment
181
Which types of cells are more sensitive to irradiation?
Labile cells like gonads, bone marrow, lymph tissue, and GI cells
182
T/F: Mature RBC's are radioresistant resulting in anemia 2-3 weeks after exposure.
True
183
When you are missing 1 or more nutrients, it is called ___ malnutrition; whereas if you have adequate intake but some storage/utilization issue it's called ___malnutrition.
Primary; Secondary
184
Which nutritional diseases result from an inadequete protein intake?
Protein energy malnutrition (Marasmus, Kwashiorkor)
185
Which nutritional disease results from decr protein leading to edema, visceral protein breakdown and anorexia?
Kwashiorkor
186
Which nutritional disease results from decr protein due to overall decr in calories?
Marasmus
187
What is being broken down in Marasmus?
Skeletal muscle
188
T/F: Marasmus victims experience decreased B cell immunity and an enlarged head.
False: decr in T cell imunity and no enlarged head (just looks large compared to emaciated thorax)
189
People with ___ ____ may experience amenorrhea, lanugo, and cold intolerance.
Anorexia Nervosa
190
What is more common: anorexia nervosa or bulimia?
Bulimia
191
___ ____ is the esophageal irritation associated with bulimia.
Barrett esophagus
192
What are the four fat soluble vitamins?
A, D, E, K
193
T/F: The liver can store a 6 month supplyof vitamin D.
False: vitamin A
194
Vitamin __ maintains vision by maintaining rods and cones.
A
195
What is a common problem resulting from vitamin A deficiency?
Night blindness (rhodopsin)
196
Vitamin D maintains plasma calcium and what?
Phosphorus
197
The active form of vitamin D is what type of hormone?
Steroid hormone
198
What regions are prone to vitamin D deficiency?
Northern regions or other areas lacking UV light exposure
199
Vitamin D deficiency in kids is called ____, and ___ in adults.
Rickets; osteopenia
200
Is it possible to reach toxic doses of vitamin D?
By oral doses yes...not by sunlight exposure
201
What does a deficiency in vitamin C lead to?
Scurvy
202
Bleeding gums, joint issues, and decreased healing are all signs of vitamin C deficiency resulting in impaired ___ formation.
Collagen
203
Is mega-dosing with vitamin C a bad thing?
No, most is excreted in urine however hyperuricosuria may ensue
204
T/F: Increasing uptake in vitamin C can protect against the common cold and may reduce the risk of cancer.
False: no significant evidence to support either statement
205
A BMI of 18.5-25 is ___, a BMI between __ and __ is overweight, and a BMI greater than __ is considered obese.
Normal; 25-30; 30
206
What percentage of Americans are obese?
34%; roughly 2/3 are considered overweight
207
T/F: Men are more likely to have the 'apple' shape and women are more likely to have the 'pear' shape.
True
208
What is the LEP gene and who has more of it?
codes for leptin; increased in people w/ more adipose
209
__ decreases your appetite, whereas ___ increases your appetite.
Leptin; ghrelin
210
T/F: Theoretically, people who carry more fat should have a decreased appetite.
True; fat releases leptin which is the appetite suppressor
211
What is the correlation between obesity and hypertension?
More obese, the greater the hypertension
212
If you restrict ___ from your diet, it can help reduce hypertension.
sodium
213
T/F: Restricting calories can lead to a longer lifespan.
True
214
T/F: An increase in animal fats in your diet along with lower amounts of fiber has been linked to renal cancer.
False...colorectal cancer
