General Flashcards
(253 cards)
1
Q
Why does carcinoid syndrome only occur after the carcinoid tumor has metastasized?
A
When localized to the GI system, the vasoactive substances released from the tumor are metabolized by the liver via the first pass effect.
When metastasized to the liver, the vasoactive substances produced enter directly into the systemic circulation resulting in the various symptoms.
2
Q
Which hepatitis is able to integrate into the host genome and why?
A
Hepatitis B:
- DNA virus
- contains a reverse transcritpase
- integrates itself into the host genome and can remain latent in cells
3
Q
How does therapeutic ionizing radiation work? (2 methods)
A
- Double stranded DNA breaks
- Free radical formation (ROS) that cause damage to cells and DNA
4
Q
What does the HIV Env gene encode =
A
gp160 -> gp120 + gp41
mutations indicate that the HIV virus is resistant to certain anti-retroviral drugs
5
Q
What does the HIV Pol gene encode =
A
reverse transcriptase, integrase, protease
mutations indicate that the HIV virus has developed resistance to anti-retroviral drugs (NNRTI, NRTI, protease inhibitors, integrase inhibitors)
6
Q
What LN?
- skin from the umbilicus downwards,
- distal anus (below the pectinate line)
- distal vagina
- vulva
- scrotum
A
superficial inguinal nodes
7
Q
Mechanism of warfarin induced skin necrosis?
A
Decreased production of protein C -> prothrombotic state -> increased thromboses in skin vessels -> ischemia -> necrosis
8
Q
adult + pseudopallisading necrosis in the brain + intracranial mass =
A
Glioblastoma multiforme
Most common primary brain neoplasm in adults.
9
Q
most commonly injured organ in “blunt abdominal trauma”
A
spleen rupture
10
Q
proliferation fraction (Ki-67) indicates
A
mitotic index
11
Q
What type of liver injury occurs with carbon tetrachloride exposure?
A
lipid peroxidation -> fatty change with hepatic necrosis
12
Q
What does heterochromatin consist of? And what does it’s presence indicate about that piece of DNA?
A
- methylated DNA
- deacylated histones
if DNA is in this structure, it indicates there is a low transcription level.
13
Q
Hypertrophy
A
increase in size
14
Q
Hyperplasia
A
increase in number
15
Q
Cyanosis + Chocolate colored blood + Decreased SaO2 + Normal PaO2
A
Methemoglobinemia (Fe2+ is oxidized to Fe3+ which cannot bind oxygen)
16
Q
Hallmark of reversible cell injury
A
cellular swelling
17
Q
Hallmark of irreversible cell injury
A
membrane damage
18
Q
AL amyloid (Ig Light chain) =
A
primary systemic amyloidosis
19
Q
AA amyloid (serum amyloid associated protein)
A
secondary systemic amyloidosis
20
Q
non-mutated transthyretin =
A
senile cardiac amyloidosis
21
Q
mutated transthyretin =
A
familiar amyloid cardiomyopathy -> restrictive cardiomyopathy
22
Q
“tumor cells in an amyloid background” =
A
medullary carcinoma of the thyroid
23
Q
beta-2 microglobulin deposition in joints =
A
dialysis-associated amyloidosis
24
Q
Pain mediators = (2)
A
- Bradykinin
- PGE2
25
Neutrophil rolling is mediated via =
on endothelial cells =
- P selectin - from Weinel-Palade bodies mediated by histamine
- E selectin - induced by TNF and IL-1
on leukocytes =
-sialyl Lewis X
26
Neutrophil adhesion is mediated via =
on endothelial cells =
-ICAM and VCAM - induced by TNF and IL-1
on leukocytes =
-integrins - induced by C5a, LTB4
27
SCCID=
Selectins and Carbohydrates
Chemokines
Integrins
Diapodesis
28
1 gram of protein = ? Calories
4 Calories
29
Where on tRNA does the AA attach?
The 3' end on the CCA tail
30
(CGG)n =
Fragile X Syndrome
31
(GAA)n =
Freidrich ataxia
32
(CAG)n =
Huntington Disease
33
(CTG)n =
Myotonic Dystrophy
34
Which creatine kinase is most specific for an MI
- CK-MM
- CK-MB
- CK-BB
CK-MB - only found in cardiac tissues
35
"cherry red mucous membranes"
carboxyhemoglobin accumulation
36
High Km = ? affinity
High Km = Low affinity
inverse relationship
37
Is DNA positively charged or negatively charged?
Negatively charged
38
Which nucleotides on the template strand are methylated in DNA replication? (2)
- Cytosine
| - Adenine
39
Which nucleotide has a methyl group?
Thymine
THYmine = meTHYl
40
Which AA are needed for purine synthesis? (3)
- Glycine
- Aspartate
- Glutamine
41
Child who is Hyperuricemic + has Gout + is Pissed off all the time + Retarded + dysTonic =
Lesch-Nyhan syndrome
```
HGPRT = enzyme deficiency
HGPRT = symptoms
```
42
DNA topoisomerase VS Helicase
DNA topoisomerase = breaks the DNA double helix to relax the supercoils
Helicase = unwinds the DNA at the replication fork
43
Where is heme synthesized?
partly in mitochrondria and partly in the cytosol
44
Stop codons (3)
- UAA
- UAG
- UGA
45
2,3-bisphosphoglycerate does what to hemoglobin-oxygen relationship?
23BPG stabilizes the taut Hgb configuration therefore decreasing Hgb's affinity for oxygen and making it easier for the oxygen to be delivered to the tissues.
increased 23BPG = O2 release off of Hgb = right shift = anoxia (decrease in oxygen on Hgb)
46
Is phosphorylated-glycogen synthase active? Or is de-phosphorylated-glycogen synthase active?
De-phosphorylated glycogen synthase is the active form.
Insulin -> Insulin R (tyrosine kinase R) on hepatocyte -> phosphorylation of Insulin R Substrate-I (IRS-1) -> (+)MAP Kinase pathway and (+)PI3K pathway
PI3K pathway = (+) protein phosphatase -> dephosphorylates glycogen synthase -> active glycogen synthase makes glycogen!
47
Cofactors for BCalphaKADH, PDH, and alpha-KGDH (5)
- thiamine pyrophosphate (B1)
- FAD (B2 - riboflavin)
- NAD (B3 - niacin)
- CoA (B5 - pantothenic acid)
- lipoate
48
Prokaryotic DNA Polymerase III actions (2)
- 5'->3' DNA synthesis
| - 3'->5' exonuclease activity (proof reading)
49
Prokaryotic DNA Polymerase I actions (3)
- 5'->3' DNA synthesis
- 3'->5' exonuclease activity (proof reading)
- 5'->3' exonuclease activity (removing primer)
50
Prokaryotic DNA Polymerase II actions (1)
-3'->5' exonuclease activity (proof reading)
51
Northern blot is used to identify =
Type of probe used for Northern Blot technique =
specific RNA sequences
SS-DNA or SS-RNA
52
Southern blot is used to identify =
Type of probe used for Southern Blot technique =
specific DNA sequences
SS-DNA or SS-RNA
53
Western blot is used to identify =
Type of probe used for Western Blot technique =
proteins/antibodies
Antibody
54
Type of probe used for Southwestern Blot technique =
DS-DNA
55
uracil is found in DNA/RNA/Both?
RNA only
56
amatatoxins (found in poisonous mushrooms) inhibits what?
Eukaryotic RNA polymerase II -> decreases production of mRNA
57
Eukaryotic RNA polyermase I makes =
rRNA
58
Eukaryotic RNA polymerase II makes =
mRNA
59
Eukaryotic RNA polymerase III makes =
tRNA
60
Priority of surrogates (5)
spouse > adult children > parents > adult siblings > other relatives
61
APGAR Scores
| Total =
Appearance, Pulse, Grimmace, Activity, Respiration
Total = 10 points (0,1,2 for each)
62
When are APGAR scores taken?
1 minute after birth
| 5 minutes after birth
63
Sensitivity =
a/(a+c)
64
Specificity =
d/(b+d)
65
PPV =
a/(a+b)
66
NPV =
d/(c+d)
67
95% CI =
mean +/- 1.96 SD/sqroot n
68
99% CI =
mean +/- 2.58 SD/sqroot n
69
_ is used to compare the exposure of people with the diseases to exposure of people without the disease
Odds Ratio - case control studies
70
68/95/99 rule of normal distribution
Under a normal distribution bell curve:
68% = 1 st dev
95% = 2 st dev
99% = 3 st dev
71
Competitive inhibitor (reversible) - what happens to Vmax and Km
- Vmax stays
| - Km increases (therefor affinity decreases)
72
Noncompetitive inhibitor - what happens to Vmax and Km
- Vmax decreases
| - Km stays
73
What order kinetics are Phenytoin, Ethanol, and Aspirin?
PEA = 0 = Zero order kinetics
74
reduction, oxidation, hydrolysis = what stage of metabolism?
Stage I
produces slightly polar, water soluble metabolites (still active)
75
What is Stage II of metabolism?
congugation (glucoronidation, acetylation, sulfation)
produces polar, inactive metabolites that are then excreted via the kidneys
76
Elderly patients rely on metabolism Stage I/II/both
II only
77
Organophosphate Poisoning
```
DUMBBELSS - Ach overload
Diarrhea
Urination
Miosis
Bronchospasm
Bradycardia
Excitation of CNS and muscles
Lacrimation
Salivation
Sweating
```
78
What is the single most preventable cause of death?
Tobacco use
79
Probability of concluding there is no difference when there really is one =
Beta (Type II error)
80
Probability of concluding there is a difference when there really isn't one =
Alpha (Type I error)
81
Treatment for a young sexually active person with STI type symptoms =
Treat for N gonococci and C trachomonous
Ceftriaxone (cefalosporin)
Azithromycin (macrolide) OR Doxycycline (tetracycline)
82
Epithelium of
- true vocal cords
- false vocal cords
- true vocal cords = stratified squamous ep
| - false vocal cords = ciliated pseudostratified columnar ep
83
```
Clinical trials phases:
Phase I=
Phase II=
Phase III=
Phase IV=
```
Phase I = small number of healthy volunteers
Phase II = small number of patients with disease of interest
Phase III = Large number of patients randomly assigned to treatment or best available treatment (or placebo)
Phase IV = Post-marketing surveillance of patients. Drug is already approved.
84
Partial thromboplastin time =
PTT
85
Amyloid structure
beta-pleated sheets
86
Cardiomegaly + individual myofiber necrosis with mixed inflammatory infiltrate + travel to South America
T. cruzi
87
Gluconeogenesis locations (3)
Liver
Kidney
Intestinal epithelium
88
Why do some vaccines have the antigen conjugated with a carrier protein?
3 examples
The main antigen of encapsulated bacteria are their polysaccharide capsules. These polysaccharide antigens cannot be presented to T cells alone. They are conjugated with a carrier protein thereby enhancing their immunogenicity and activating T-cells
Examples:
- Pneumococcal (PCV) (the other pneumococcal vaccine (PPSV) is not conjugated with anything, therefore less effective)
- H. influenzae type B (conjugated with diphtheria toxoid)
- Meningococcal vaccine
89
Nerve that travels in the mandible
inferior alveolar nerve
90
Age (months) of standing alone with no support
10 months
91
Age (months) of first steps/cruising
12 months
92
Age (months) of parallel play
24-36 months
93
Age (months) of climbing stairs
18 months
94
Age (months) of drawing
4 years
95
Multiple seizures, pins and needles around mouth and hands and feet, random spasms leading to flexion of wrists, diffuse hyperreflexia - what serum electrolyte abnormality?
low calcium
96
Dermatome at the umbilicus
T10
BellybutTEN
97
Acute phase cytokines that are released during inflammation/help precipitate inflammation (3)
IL-1
IL-6
Tumor necrosis factor-alpha
98
In DIC is fibrinogen high or low
Fibrinogen is low because it is all used up in the clots
99
Function of TGF-beta in wound healing
Stimulates angiogenesis, fibrosis, cell cycle arrest
| Inhibits inflammation
100
What stains blue on a Prussian blue stain?
Intracellular iron
Lipofuscin doesn't stain
101
Branches of the external carotid artery (3)
External carotid ->
- Facial artery
- Occipital artery
- Maxillary artery
102
Injury of what cells release creatine kinase?
Cardiac, Brain, Skeletal muscle cells
103
What type of damage results in increased serum creatine kinase?
membrane damage, irreversible cell injury
104
Mechanism of ischemic cell swelling?
Ion pump failure due to lack of ATP -> intracellular accumulation of Na and Ca -> draws water into the cell -> swelling
105
Intercostal vein, nerve and artery lie in the subcostal groove on the upper/lower border of the rib?
Lower
That is why you insert chest tubes/needles on the upper border of the rib
106
Where do these things bifurcate?
- Common carotid
- Trachea
- Abdominal aorta
- Common carotid = C4
- Trachea = T4
- Abdominal aorta = L4
biFOURcates
107
55 yo man + yellow sputum + poor dentition with G carries and gingivitis + alcohol abuse + lung consolidation
Actinomyces with sulfur granules
108
Multiple telangiectasias in skin and mucous membranes + recurrent bleeds + skin discoloration + AD inheritance
Osler Weber Rendeu Syndrome
| Hereditary Hemorrhagic Telangiectasia
109
Port wine stain on V1/V2 distribution + tram track calcification in the brain + intellectual disability + glaucoma + cerebral malformations =
Sturge Webber Syndrome (Encephalotrigeminal Angiomatosis)
cerebral malformations = leptomeningial angiomas
110
Hammartomas in CNS and skin + Cardiac rhambdomyomas + cutaneous angiofibromas + renal angiomyolipomas =
lots of tumors everywhere in a child
Tuberous Sclerosis
Cardiac rhabdomyomas = the only childhood heart tumor
111
Dopamine
low dose ->
medium dose ->
high dose ->
Low dose -> D1 = kidneys - increased GFR, increased RBF, increased sodium excretion
Medium dose -> beta1 = increased contractility, increased PP, increased systolic BP
High dose -> alpha1 = generalized systemic vasoconstriction
112
_ is given to prevent ischemic stroke in patients with TIA
low dose aspirin
113
Splinter hemorrhages suggest a problem with _
Cardiac/valve problem - infectious endocarditis
114
Congenital long QT syndrome is caused by a mutation in
ion channels (usually K channels)
115
Thromboxane A2 function (2)
- enhances platelet aggregation
| - vasoconstriction
116
Prostacyclin function (5)
- inhibits platelet aggregation
- inhibits platelet adhesion to vascular endothelium
- vasodilation
- increases vascular permeability
- promotes leukocyte chemotaxis
117
Child + palpable purpura on buttocks and legs + GI issues + arthralgias + hematria =
Henoch-Schonlein Purpura
type of vasculitis
118
S3 =
volume overload
119
S4 =
pressure overload
120
chronic sinopulmonary infection + bilateral absent vas deferens =
Cystic fibrosis
Symptoms seem similar to Kartageer syndrome but the infertility here is due to a lack of a structure NOT a cilia issue
121
testicle lymph drainage ->
para-aortic LN
122
Scrotum lymph drainage ->
superficial inguinal LN
123
bug that is PYR positive
Strep pyogenes
124
L sided chest discomfort + burning pain + rash over the area that becomes vesicular =
Shingles - VZV reaction
125
Immunodeficiency disorder with partial albinism + giant cytoplasmic granules in neutrophils and monocytes + diagnosed in childhood =
Chediak-Higashi Syndrome
Inhibition of lysosomal trafficking -> microtubule dysfunction
lysosomal trafficking regular gene (LYST)
126
Started on a new drug, 10 days later the patient develops a rash, fever and joint pain. biopsy shows fibrinoid necrosis + neutrophilic infiltrate =
Serum sickness drug reaction - type III hypersensitivity
127
fever and muscle rigidity soon after surgery + cyanotic skin mottling + hypertension
Malignant hyperthermia
treatment = dantrolene - inhibits Ca release from Sarcoplasmic reticulum
128
NT inhibited in tetanus infection =
- GABA
| - Glycine
129
Deficiency of Hypocretin-1 (Orexin-A) in CSF indicates =
Narcolepsy
hypocretin/orexin is produced in neurons in the hypothalamus
130
Dynein vs Kinesin
Dynein = retrograde transport down an axon
Kinesin = anterograde transport down an axon
131
Direct angiogenesis stimulators (2)
- VEGF
| - FGF-2
132
BRCA gene function =
DNA repair gene
133
HER2 =
"human epidermal growth factor receptor 2"
tyrosine kinase
134
What 3 diseases drastically increase the risk for CAD related deaths?
- Non-coronary atherosclerosis
- Type 2 DM
- Chronic kidney disease
135
Acute hemolytic transfusion reaction is what type of hypersensitivity?
Type II hypersensitivity reaction - complement mediated cell lysis
136
Adult Polycystic Kidney Disease is associated with _ hemorrhage
Subarachnoid hemorrhage from a berry aneurysm
137
Anopheles mosquito
-Malaria
138
Aedes mosquito
- Dengue fever
- Chikungunya
- Yellow fever
139
“Ability to decompose hydrogen peroxide” =
Catalase positive
Contains the myeloperoxidase enzyme
140
“Possession of cytochrome oxidase” =
Oxidase positive
141
“Epithelial cells covered in gram variable rods”=
Gardnerella vaginalis - clue cells
142
“Multiple, painful, shallow ulcers on an erythematous base located on the labia + bilateral inguinal lymphadenopathy” =
HSV-2
143
What type of response is eosinophils attacking parasites?
Antibody Dependent Cell Mediated Cytotoxicity (ADCC)
Type II hypersensitivity
1) parasite invades
2) parasite coated with IgG and IgE
3) IgE binds to Fc receptor located on eosinophils
4) eosinophils degranulate and kill parasite
144
Compliment C1 deficiency predisposes to (2)
- Infection with encapsulated bacteria
| - SLE
145
Defect in IL-2 =
SCID = opportunistic infections + diarrhea + failure to thrive
146
Defect in IL-12 R =
T cell disorder: decreased number of Th1 cells mature -> decreased amount of IFN-gamma released -> decreased amount of activated macrophages -> susceptible to mycobacterial infections
147
“Dysfunctional immunoglobulin gene rearrangement”
Hyper-IgM syndrome
- defective CD40L on Th cells therefore cannot class switch
- X linked recessive
148
Cytokine that mainly functions to support growth and differentiation of bone marrow stem cells?
IL-3 - secreted by all T cells
149
Nitroblue Tetrazolium (NBT) Test shows no color/no blue. Dihydrorhodamine (DHR) flow cytometry test shows no green fluorescence. What is the enzyme deficiency?
NADPH oxidase deficiency -> chronic granulomatous disease
If it was a myeloperoxidase deficiency, both of those tests would be opposite. NBT test would show blue coloration. DHR flow cytometry would show green fluorescence.
150
3 cytokines that mediate the systemic inflammatory response
- IL-1
- IL-6
- TNF-alpha
They all stimulate hepatic secretion of acute phase proteins
151
alpha and beta interferon
- secreted from?
- action?
secreted from:
-virally infected cells
actions: interact with neighboring virally infected cells and synthesize enzymes that halt viral protein synthesis and stimulate infected-cell apoptosis
152
How are herpes virus family envelopes different from other viral envelopes?
Obtained from host cell nuclear membranes instead of host cell plasma membranes
153
What is the toxic component of gram negative LPS?
Lipid A
154
8 yo boy + rapid and irregular movements of hands + unintentional “funny faces” + 102 degrees F + circular erythematous lesions on abdomen + new systolic murmur
Acute rheumatic fever post-streptococcal pharyngitis
JONES Criteria:
- Joins
- Carditis/murmur
- Nodules - subcutaneous
- Erythema marginatum
- Sydenham chorea
155
4 yo boy + fever + painful ulcers on tongue and gingiva + swollen gums + cervical lymphadenopathy
HSV-1
156
Increased work of breathing + wheezes/crackles/rales + rhinorrhea + congestion + 1 month old
RSV bronchiolitis
157
What vitamin deficiency can increase measles complications?
vitamin A
158
_a_ are important in preventing superficial candida infections
_b_ are important in preventing hematogenous spread of candida
a = T lymphocytes (T helper cells specifically)
b = neutrophils
159
What sjogren syndrome antibody has the ability to cross the placenta and cause neonatal lupus and congenital heart block?
SS-A antibody
160
Absence of CD18 =
Leukocyte adhesion deficiency
Unable to make integrins, therefore leukocytes/neutrophils cannot leave the blood
161
Patient's serum + cardiolipin + lecithin + cholesterol
Nonspecific treponemal test/RPR test
Looking for coagulation -> positive
Then do antibody specific test
162
Polygenic inheritance (7)
- Androgenic alopecia
- Epilepsy
- Glaucoma
- HTN
- Ischemic HD
- Schizophrenia
- Type II DM
163
Antibody against proteinase-3 of neutrophils
Granulomatosis with polyangitis
c-ANCA
164
Antibody against myeloperoxidase of neutrophils
Microscopic polyangitis or Eosinophilic granulomatosis with polyagnitis
p-ANCA
165
Introns vs Exons - which ones stay and which ones go?
Introns are removed
Exons are joined together and are translated
166
Spliceosomes remove introns containing _ _ @ the 5’ splice site and _ _ @ the 3’ splice site
5' = G U
3' = A G
167
CD16 or CD56 =
NK cells
168
What 5 cytokines activate NK cells?
- IFN-gamma
- IL-12
- IL-2
- IFN-alpha and beta (from virally-infected cells)
169
What type of receptors contain zinc fingers?
Intracellular receptors
Bind: steroids, thyroid hormone (T4/T3), fat soluble vitamins
The zinc finger part is the DNA binding domain
170
Where do repressor proteins bind?
Operator region
171
P27 has what action?
Cell cycle inhibitor
- Normal cells have high levels of p27
- Malignant cells have low levels of p27
172
Active Rb - hyperphosphorylated or hypophosphorylated?
Hypophosphorylated = Active
-Active -> binds to E2F transcription factor -> inhibits transcription of genes required to move from G1 to S -> stops the cell cycle
Inactive (Hyperphosphorylated) -> releases E2F transcription factor -> cells can continue from G1 to S without being checked
173
O2 -a-> O2 free radical -b-> H2O2 -c-> HOCl
```
a = NADPH oxidase
b = superoxide dismutase
c = myeloperoxidase
```
174
CD 14 or CD 40
Macrophages cell surface marker
175
Anergy
State during which a cell cannot be activated by exposure to its antigen. Mechanism of self tolerance.
Ex: T and B cells become anergic when exposed to their antigen without the appropriate costimulatory signal.
176
P-glycoprotein action?
pumps out toxins, including chemotherapeutic drugs
- ATP-dependent transporter
- often seen in adrenal cell carcinomas
- also called multidrug resistance protein 1 (MDR1)
177
CA 15-3/CA 27-29 = markers for?
Breast cancer
178
Caspase actions
Proteolytic enzyme that cleaves cellular proteins
| Important in apoptosis
179
What class of MHC presents endogenous antigens to T cells?
MHC I
180
What class of MHC present exogenous antigens to T cells?
MHC II
181
After exposure to these toxins/viruses, IVIG should be given (5)
- Tetanus toxin
- Botulinum toxin
- HBV
- Varicella
- Rabies
182
Metastatic calcification locations?
- Kidney
- Lungs
- Gastric mucosa
The low pH in these environments favors calcium deposition
183
Carcinoma exceptions to the lymphatic spreading rule: (4)
- Renal cell carcinoma
- Hepatocellular carcinoma
- Follicular carcinoma of the thyroid
- Choriocarcinoma
These carcinomas spread via the blood instead of the “rule” that all carcinomas spread via lymphatics
184
Hyperkeratotic vesicles on palms and soles + reactive arthritis
Blennorrhagicum
| The important distinguishing feature from other rashes on palms and soles is that these are vesicular
185
Eosinophilic casts (2)
Multiple myeloma
| Chronic pyelonephritis
186
What happens when a stop codon is encountered in the ribosome?
Releasing factor proteins bind to the ribosome to facilitate release
187
Granulomas require what 3 cytokines?
IL12
IFN gamma
TNF alpha
188
Basophilic oval inclusions in mature neutrophils + increased LAP
Dohle bodies seen in neutrophils during a leukemoid reaction
189
Genetics of classic galactosemia?
AR
| Deficiency of Galactose 1 phosphate uridyl transferase
190
Genetics of Hemophilia A, B, C?
A and B = X linked recessive
A = factor VIII deficiency
B = Factor IX deficiency
```
C = AR
C = Factor XI deficiency
```
191
Genetics of Huntington’s disease
AD
CAG repeat
Anticipation more common if inherited from father
192
Genetics of Leber Hereditary Optic Neuropathy
mitochondrial
193
Order of mutations in colonic adenoma-carcinoma sequence (1, 2, 3)
```
1 = APC - loss of function, tumor suppressor gene
2 = KRAS - gain of function, oncogene
3 = p53, DCC - loss of function, tumor suppressor gene
```
194
Homeobox genes encode what proteins?
DNA binding transcription factors
| Bind to regulatory regions on DNA and alter expression of genes involved in segmental organization of the fetus
195
Genetics of hypertrophic cardiomyopathy?
AD with variable expression
| 50% of cases are familial
196
Young boy with depression, gait disturbances, dysarthria, elevated transaminases. Cousin diagnosed with progressive neurologic disease.
Wilson’s disease
| -AR
197
Myopia
Increased axial length of the eye - image focuses in front of the retina
198
Most common predisposing condition for infective endocarditis in the developed world?
Mitral valve prolapse
| Less common: valvular sclerosis, mechanical valve
199
46, XX t(14;21) in a newborn infant
Unbalanced robertsonian translocation Down Syndrome
Balanced translocations would not be symptomatic
200
13 yo boy, growth retardation, microcephaly, sun sensitive skin rash, recurrent infections, child of consanguineous marriage
Bloom Syndrome
- AR
- Mutation in BLM gene - DNA helicase does not form
201
Salicylate poisoning - which process comes first?
1) respiratory alkalosis
2) anion gap metabolic acidosis
Usually, the pH is close to normal
202
Prostatectomy can injure what nerve? What is the consequence?
Can transect the prostatic plexus
| Contains the cavernous nerves that innervate the cavernous sinus. Without it, no penil erection
203
Micrognathia =
Hypoplasia of the mandible
204
Cytochrome oxidase =
Final component of the ETC
| Turns O2 -> H2O
205
Cricothyrotomy incision passes through what 4 layers?
Skin
Superficial cervical fascia (includes subcutaneous fat and platysma muscle)
Deep cervical fascia (includes investing layer and paratracheal layers)
Cricothyroid membrane
206
Bilateral kidney tumors composed of fat, smooth muscle, and blood vessels? These are associated with?
Angiomyolipomas
- Diagnostic for Tuberous Sclerosis
- AD
207
Multiple phenotypic manifestations resulting from a single genetic mutation
Pleiotropy
Occurs in most genetic illnesses
208
Lacunar infarcts in the deep brain are caused by
Hypertensive arteriolosclerosis
Immediate CT imaging does not show the infarct because it is so small
A few weeks later, the necrotic tissue becomes a cystic space and can now be seen
209
Increased 5-hydroxyindoleacetic acid is an indicator of?
Increased serotonin
Elevated in carcinoid syndrome
210
Anaphylaxis results in increase in what 2 things
Histamine and Tryptase (specific for mast cell degranulation)
Anaphylaxis occurs due to mast cell and basophil degranulation
211
CA-125 is a marker for?
Epithelial ovarian tumors
212
What factor inhibits phagocytosis of group A streptococcus?
Protein M
Main virulence factor - inhibits phagocytosis, cytotoxic to neutrophils, mediator of bacterial attachment
213
Indole positive =
Can turn tryptophan into indole
214
Is pseudomonas motile
```
Yes - motile
Oxidase positive
Catalase positive
Non-lactose fermenting
Aerobic
Encapsulated
Type III secretion system
```
main virulence factor = Exotoxin A (ribosylates EF2), endotoxin (because its gram negative), phospholipase C, pyocyanin
215
How does CMV present in an immunocompetent person
Mononucleosis-like syndrome
Fever, malaise, myalgias, atypical lymphocytosis, elevated liver transaminases
Monospot negative (no heterophile antibodies)
216
Erythematous throat + gray-white tonsillar exudate + fever + chills + diffuse erythematous rash on chest and abdomen that blanches with pressure + tongue is bright red
Scarlet fever
- “Sandpaper rash”
- “Strawberry tongue”
Sequelae = acute rheumatic fever, glomerulonephritis
Only occurs in GAS strains that produce pyrogenic exotoxin/erythrogenic
217
The steady state concentration of a drug that is metabolized by first order kinetics is calculated how?
Half-life x 4
| It takes 4-5 half-lives to get to a steady concentration
218
What is rebound rhinorrhea
Nasal congestion without a cough, post-nasal drip or sneezing
Caused by topical decongestant use for more than 3 days
Due to tachyphylaxis = decreased production of NE due to negative feedback -> vasodilation and continued nasal symptoms
Treatment = stop the decongestants
219
“Fungus spherules” =
Coccidioides
220
Main virulence factor in mycobacterium
Cord factor
Inhibits neutrophils, damages mitochondria
221
_ allows mycobacteria to persist inside of macrophages
Sulfatides
Inhibits fusion of lysosomes to phagosomes
222
Which E Coli causes bloody diarrhea?
Enterohemorrhagic E Coli (EHEC)
223
Which E Coli causes watery diarrhea?
Enterotoxigenic E Coli (ETEC)
- heat labile (LT) = increases cAMP (eL Agua)
- heat stable (ST) = increases cGMP (San Gabriel)
224
4 bacteria that can take up naked DNA from the environment
- Streptococcus
- Haemophilus
- Neisseria
- Bacillus
Transformation
DNAse - degrades naked DNA and can inhibit transformation
225
Methenamine silver stain is used to identify _
fungus
226
Window period of HBV
positive for: HBcAb and HBeAb
| negative for: HBsAg and HBsAb
227
HBcAg is detectable when?
Rises before the patient becomes symptomatic and stays elevate throughout the infection (whether in window period or not)
228
What Ab should be measured to test if an infant has been infected with Toxo in utero?
IgM - first Ab produced when B cells are stimulated
IgG levels would indicate passive immunization from mother
229
What 2 things increase precision and what 1 thing decreases precision?
increases precision:
- decreased standard deviation
- increased power (1-beta)
decreases precision:
-random error
230
What 1 thing decreases accuracy?
decreases accuracy:
| -systematic error
231
how to decrease the chance of making a type II error? (4)
increase power -> decreases beta
how to increase power?
- increase sample size
- increase expected effect size
- increase precision of measurement
232
Medicare is for _
- elderly (>65 yo)
- certain disabilities
- ESRD
233
Medicaid is for _
-very low income
234
Matching strategy helps overcome what bias?
Confounding bias
235
Randomization helps overcome what bias?
Selection bias
Types of selection bias:
- Berkson bias
- Healthy worker effect
- Non-response bias/Attrition bias
236
What type of bias?
A screening test preferentially identifies less aggressive forms of a disease and therefore increases the apparent survival time
Length time bias
237
Drugs with high intrinsic hepatic clearance have _ lipophilicity and _ Vd
- high lipophilicity
| - high Vd
238
16 year old boy + chewing plant seeds + progressive confusion + agitation + feeling like bugs crawling on skin + trouble seeing + very thirsty =
Atropine poisoning
239
What type of mosaicism - genetic mutation is seen in offspring but not in parents
Germline mosaicism
240
Can somatic mutations be passed to offspring?
No
| They are acquired/spontaneous alterations of somatic cells
241
What cell produces IL-2
Antigen stimulated T cells -> (+) stimulates growth of all lymphocytes (T, B, NK) and monocytes
242
What cells produce IL-1?
monocytes/macrophages
243
Angry at being abused a child so the person joins a rugby team where he is known for playing really hard
Sublimation
244
Chronic nasal congestion + occasional headaches + atrophic nasal mucosa + thinned nasal septum + small septal perforation + been taking oral loratadine with no help of symptoms
Nasal cocaine abuse
245
Variable phenotype in patients with the same genetic mutation. Example: Marfan syndrome, NF1
Variable expressivity
246
One genotype presents with many problems in multiple systems. Example: PKU
Pleiotropy
247
Different mutations at the same locus causing a similar phenotype. Example: beta thalassemia, Duchenne vs Becker muscular dystrophy
Allelic heterogeneity
248
Defect in intracellular messenger in a CD19 cell leading to multiple infections in an infant
Bruton agammaglobulinemia
CD19 = B cells
Defect in tyrosine kinase gene (BTK)
249
If the hydrophobic N-terminal sequence of preproinsulin is cleaved off, where would the peptide accumulate?
In the cytosol
The N-terminal sequence is what directs the preproinsulin towards the rER where it gets cleaved to proinsulin
250
Ablation of _a_ can be used to treat severe axillary hyperhidrosis.
Ablation of _b_ can be used to treat severe facial hyperhidrosis.
a=Thoracic sympathetic trunk
b=Superior cervical ganglion
Sweating is controlled via the cholinergic postganglionic sympathetic fibers
251
Cellular differentiation and dedifferentiation is controlled by _
Transcription factors
252
Sudden appearance of acanthosis nigricans + anemia =
Indicates a GI malignancy or lung malignancy
The anemia indicates blood loss, leaning towards a GI malignancy with occult blood loss
253
Hypoplastic first digits + mullerian fusion abnormalities + genetic
Hand-foot-genital syndrome
- AD
- Mutated HOXA13 gene
