4/10&11 biochem/overall Flashcards
1
Q
I—hyper-chylomicronemia
-whats the problem?
A
LPL deficiency or altered ApoC-II.
*ApoC-II = LPL cofactor.
2
Q
I—hyper-chylomicronemia
-Sxs:
A
Causes pancreatitis, hepa tosplenomegaly, and eruptive/pruritic xanthomas.
3
Q
I—hyper-chylomicronemia
- what will blood lipid content be like?
- is there inc. risk for atherosclerosis?
A
TG levels in chylos & VLDL wont drop.
- TGs can get as high as 1600 - may cause acute pancreatitis.
- excess TGs in blood can make it look milky white.
4
Q
IIa—familial hyper-cholesterolemia
- whats the problem?
- what will inc. in blood content?
A
- Absent or defectiveLDL receptors.
- extremely high cholesterol (LDL has lots of cholesterol).
- heterozygous ~ 300mg/dL
- homozygous ~ 700mg/dL
5
Q
IIa—familial hyper-cholesterolemia
-inheritance pattern?
A
-auto-dom.
6
Q
IIa—familial hyper-cholesterolemia
-Sxs:
A
-Causes accelerated atherosclerosis (may have MI before
age 20), tendon (Achilles) xanthomas, and corneal arcus.
7
Q
tendon (Achilles) xanthoma classically seen in which dyspilidemia?
A
IIa—familial hyper-cholesterolemia
8
Q
IV—hyper-triglyceridemia
- whats the problem?
- inheritance pattern?
A
Hepatic overproduction of VLDL. Causes pancreatitis.
*Autosomal dominant.
9
Q
Abetalipoproteinemia
-whats the problem?
A
Dec. synthesis of apolipoprotein B = inability to generate chylomicrons. Dec. secretion of cholesterol, VLDL into bloodstream = fat accumulation in enterocytes.
- ApoB-100 binds LDL receptor.
- ApoB-48 req to send chylos out of intestines.
10
Q
Abetalipoproteinemia
-blood lipid content?
A
-very low plasma TG & chol levels. Chylomicrons, VLDL, apoB = absent from blood.
11
Q
Abetalipoproteinemia
- Sxs:
- presentation:
A
malabsorption, acanthocytes, neuro-problems.
-Presents in early childhood with failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness.
12
Q
b-HCG level in ectopic pregnancy
-inc/dec/normal?
A
Lower than expected rise based on dates.
13
Q
Connection btwn hypothyroidism & amenorrhea?
A
- hypothyroidism leads to high TRH levels bc of low neg. feedback.
- TRH stimulates PRL release.
- PRL inhibits GnRH.
14
Q
Relationship btwn TRH, PRL, GnRH?
A
TRH stimulates PRL release.
-PRL inhibts GnRH.
15
Q
External hemorrhoid
-venous drainage below pectinate line?
A
inferior rectal vein => internal pudendal vein => internal iliac vein => IVC.
16
Q
Loop diuretics
- tox:
- mnemonic:
A
OH DANG!
Ototoxicity, Hypokalemia, Dehydration, Allergy (sulfa), Nephritis (interstitial), Gout.
17
Q
glipizide
- what is it?
- tox?
A
sulfonylurea
-hypoglycemia.
18
Q
HELLP syndrome
- whats HELLP stand for?
- what type of cells will be seen in peripheral blood?
A
Hemolysis, Elevated Liver enzymes, Low Platelets.
-thrombotic microangiopathy in liver
-RBCs get sheared as they pass by these micro-clots
in the liver -> schistocytes.
19
Q
Obsessive compulsive disorder
-Tx:
A
SSRIs, clomipramine.
20
Q
How would b-HCG cause gynecomastia?
A
Acts like LH on leydig cells => makes testosterone => aromatized to estrogen.
(is this right?)
21
Q
Which cells make testosterone?
A
Leydig cell, NOT sertoli cells!
22
Q
3rd degree heart block
-Tx:
A
pacemaker
23
Q
Leser-Trélat sign
- sudden appearance of multiple what?
- indicates what?
A
- seborrheic keratoses.
- indicating an underlying malignancy (e.g., GI, lymphoid).
24
Q
babesia vs malaria
-difference in appearance in RBC?
A
babesia has the maltese cross.
25
Aortic dissection
| -can it cause unequal BP in UEs?
-yes, can cause markedly unequal BP in arms.
26
hemibalism
| -ipsi or contralateral effects?
contra
27
Cerebellum
| -does it get its info from ipsi or contra cortex?
Contra cerebrum via middle cerebellar peduncle.
28
Cerebellum
| -does it get its proprioception from ipsi or contra spinal cord?
-ipsi spinal cord via inferior cerebellar peduncle.
29
Cerebellum: lateral lesion
| -propensity to fall toward contra or ipsi side?
-you fall toward ipsi side (injured side).
30
rosacea
- define:
- is it painful?
Chronic skin condition characterized by facial redness, small and superficial dilated blood vessels on facial skin, papules, pustules, and swelling.
-can be painful.
31
strep pneumo & viridans
| -is it hemolytic?
yes. alpha-hemolytic.
32
lichen sclerosus
- what is it?
- whos most at risk?
- patchy, white skin that's thinner than normal.
- most often involves skin of the vulva, foreskin of the penis or skin around the anus.
- post-menopausal women most at risk.
33
Struvite stones
| -aka?
AMP
| -Ammonium magnesium phosphate.
34
1st sign of puberty in girl?
-breast buds form (thelarche)
35
1st sign of puberty in boy?
-enlargement of the testicles and sprouting of pubic hair
36
Anti-social vs schizoid personality disorder
| -whats the diff?
antisocial = psychopath.
- no where near the same definition.
- dont think anti-social as just not hanging out with people, it means disregard for and violation of rights of others, criminality, impulsivity.
37
Necrotizing enterocolitis
| -happens in which pt pop?
neonates, usually preemies.
- perforation can lead to sepsis & death.
- can see air in bowel wall.
38
Which coag factor has shortest half life?
7
39
Which RNA viruses replicate in the nucleus?
orthomyxoviridae & retroviruses.
40
Which DNA virus replicates in cytoplasm?
poxvirus.
41
Clinical trials
- whats phase 1?
- what question are they answering?
- who are the volunteers?
"is it safe"?
| -Small number of healthy volunteers.
42
Pleural Effusion:
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec.
- percussion: dull
- fremitus: dec
43
Atelectasis (bronchial obstruction)
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec.
- percussion: dull
- fremitus: dec.
*-theres a vaccum there, not air. So its dull. Sound dont travel through a vacuum.
44
Spont. pneumothorax
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec.
- percussion: hyperresonant
- fremitus: dec.
45
Tension pneumothorax
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec
- percussion: hyperresonant
- fremitus: dec
46
Consolidation (lobar pneumonia, pulm. edema)
- breath sounds:
- percussion:
- fremitus:
- breath sounds: bronchial breath sounds, late inspiratory crackles.
- percussion: dull
- fremitus: inc.
* only one w/inc breath sounds or inc. fremitus!
* also gets egophany (E to A sign).
47
What shape are amyloid proteins in?
b-pleated sheet structures.
48
If mean is 500 and SD = 100.
| -67% of the people are in what range?
-67% are within 100 above and 100 below the mean, so 400-600.
So when it says that 68% of everyone is within 1 standard deviation - that means 1 sd above the mean and 1 sd below the mean.
49
Mucopolysaccharidoses
- name the 2 in this class
- which one has corneal clouding?
- mnemonic?
- Hunter & Hurler syndromes.
- Hurler has corneal clouding.
* Hunters see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive).
50
Fabry disease
- enzyme deficiency?
- what builds up?
- α-galactosidase A
| - Ceramide trihexoside
51
Fabry disease
- Sxs:
- mnemonic:
- do pts die from this?
- Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.
- angiokeratoma is a FABRic of vessels.
* most pts will die even w/enzyme sup.
52
Gaucher disease
- which letter?
- whats the menmonic?
- U
| - gaUcher: glUcocerebrosidase: glUcocerebroside: hUge organs: U survive: crUnched up paper.
53
Gaucher disease
| -presentation?
- this pt will be older, maybe 30 years old.
- can present w/chronic pain in extremities & back. Anemia, Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises.
54
Lysosomal storage disease. They are all auto-recessive except which two? which are what inheritance?
Fabry & Hunter = X linked recessive.
55
Niemann-Pick disease
- which letter?
- whats the menmonic?
- I
| - nIemann-pick: sphIngomyelinase: sphIngomyelin: bIg organs: lIpid-laden macro.
56
Niemann-Pick disease
| -presentation?
- infants will have period of normal development, then lose previously acquired motor skills.
- death before 3yo = profound neurological problems.
57
Which lysosomal storage diseases have cherry-red macula?
| -mnemonic?
Cherry-red macula in diseases w/hyphen in their name.
- Tay-Sachs.
- Niemann-Pick.
58
Tay-Sachs disease
- which letter?
- whats the menmonic?
- A
| - tAy-sAchs: hex-A: gAngliosides: chArry-red mAcula: brAin.
59
Tay-Sachs disease
| -presentation?
- infants will have period of normal development, then lose previously acquired motor skills.
- death before 2yo = profound neurological problems.
60
Niemann-Pick vs Tay-Sachs
| -based just on presentation, whats the difference?
Niemann-Pick has hepatosplenomegaly, while Tay-Sachs has no organomegaly.
61
Krabbe disease
- Sxs:
- characteristic cell?
Peripheral neuropathy, developmental delay, optic atrophy.
| -globoid cells
62
Krabbe disease
- enzyme deficiency?
- what builds up?
- Galactocerebrosidase
- Galactocerebroside, psychosine
* buildup of these destroys the myelin sheath.
63
Metachromatic leukodystrophy
- Sxs:
- do pts die from this?
- Central and peripheral demyelination with ataxia, dementia.
- death by early childhood.
64
Metachromatic leukodystrophy
- enzyme deficiency?
- what builds up?
- Arylsulfatase A
| - Cerebroside sulfate
65
Hurler syndrome
- enzyme deficiency?
- what builds up?
- α-l-iduronidase.
| - Heparan sulfate, dermatan sulfate.
66
Hurler syndrome
| -Sxs:
-Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
67
Hunter syndrome
- enzyme deficiency?
- what builds up?
- Iduronate sulfatase.
| - Heparan sulfate, dermatan sulfate.
68
Hunter syndrome
| -Sxs:
Mild Hurler + aggressive behavior, no corneal clouding.
69
Naive T-cell activation
| -what are the 2 signals?
- MHC I or II loaded w/Ag; TCR.
- B7 (on APC); CD28 (on T cell).
*T cell now activated. Either CD8 or CD4 T cell, depending on if it was MHC I or II.
70
```
B-cell activation & class switching
-what are the 2 signals?
```
- MHC II w/Ag; Th cell TCR.
- CD40 receptor; CD40 ligand on Th cell.
*Th cell secretes cytokines that determine Ig class switching of B cell. B cell activates and undergoes class switching, affinity maturation, and antibody production.
71
Why are Th2 cells needed in the germinal center when B-cells are undergonig affinity maturatino & class switching?
- you need the IL-4 and IL-5 from Th2 cells to undergo class switching. So you need Th2 cells in that germinal center as well.
- You need the Th2 cells to interact w/B cells in order to get that germinal center.
* If you have Hyper IgM syndrome, no germinal centers are made.
72
CD8 T cells
| -what cytotoxic granules do they release?
- perforin—helps to deliver the content of granules into target cell.
- granzyme B—a serine protease, activates apoptosis inside target cell.
- granulysin—antimicrobial, induces apoptosis.
73
Cyclosporine
- whats it bind?
- whats it block?
- Calcineurin inhibitor; binds cyclophilin.
| - Blocks T cell activation by preventing IL-2 transcription.
74
calcineurin inhibitors:
| -what do u need to watch out for when using these?
Watch out for reactivation of TB!
75
Cyclosporine
| -notable toxicity?
Nephrotoxicity, hirsutism, gingival hyperplasia.
-hypertension, hyperlipidemia, hyperglycemia, tremor.
76
gingival hyperplasia
- which drugs can cause this?
- mnemonic?
Phenytoin, verapamil, nifedipine, cyclosporine.
| *Poor Vera Never Cums (bc of her nasty gingival hyperplasia).
77
Name the 2 calcineurin inhibitors:
| -what toxicity do they have in common?
- cyclosporine, tacrolimus.
| - both are highly nephrotoxic.
78
Tacrolimus
- whats it bind?
- whats it block?
- Calcineurin inhibitor; binds FK506 binding protein (FKBP).
| - Blocks T cell activation by preventing IL-2 transcription.
79
Tacrolimus
| -notable tox:
-nephrotoxicity, inc. risk of diabetes, and neurotoxicity.
80
Sirolimus (Rapamycin)
- why use this instead of cyclosporine or tacrolimus?
- mnemonic?
- Kidney transplant rejection prophylaxis = so you obviously dont want to use an immunosuppressant that is nephrotoxic!
* Kidney “sir-vives.”
81
Sirolimus (Rapamycin)
| -mechanism?
- mTOR inhibitor; binds FKBP.
* IL-2R receptor binds IL-2 and mTOR pathway gets activated, its a cellular proliferation pathway
- Blocks T cell activation and B cell differentiation by preventing IL-2 signal transduction.
82
Basiliximab
- mech:
- use?
- Monoclonal antibody; blocks IL-2R.
| - Kidney transplant rejection prophylaxis.
83
mTOR pathway
- what activates it?
- whats it do/
* IL-2R receptor binds IL-2 and mTOR pathway gets activated, its a cellular proliferation pathway.
- causes proliferation of Helper T cells.
84
Alemtuzumab
- target?
- use?
- mnemonic?
- CD52
- CLL
- “Alymtuzumab”—chronic lymphocytic leukemia.
85
Bevacizumab
- target?
- use?
- VEGF
| - Colorectal cancer, renal cell carcinoma.
86
Infliximab, adalimumab
- target?
- mnemonic?
- TNF-α
| - Rheumatoid arthritis “inflix” pain in “da limbs”.
87
Denosumab
- target?
- use?
- mnemonic?
- RANKL
- Osteoporosis; inhibits osteoclast maturation (mimics
osteoprotegrin) .
- Deno like "Dino". Dinosaur "bones". Dinosaurs are old, old people get bone problems, osteoporosis.
88
Omalizumab
- target?
- use?
- IgE
| - Allergic asthma; prevents IgE binding to FceRI.
89
Palivizumab
- use:
- mnemonic:
- RSV prophylaxis for high-risk infants.
| - PaliVIzumab—VIrus
90
Cushing syndrome
| -associated w/which cancer?
small cell carcinoma of lung
| -can release ACTH.
91
Dermatomyositis
| -associated w/which cancer?
lung cancer
92
Plummer-Vinson syndrome
| -associated w/which cancer?
Squamous cell carcinoma of esophagus.
93
BRAF
- what does it code?
- which cancer?
- Serine/threonine kinase
| - melanoma.
94
L-myc
| -which cancer?
Lung tumor
95
ras
- codes for what?
- which cancer?
- GTPase
| - Colon cancer, lung cancer, pancreatic cancer.
96
What happens to cells that dont express MHC-1?
Tumor cells are mutated and will express abnormal proteins. These abnormal proteins will be expressed on MHC-1, recognized by CD8 T cell, and killed. So tumor cells evade this by downregulating expression of MHC-1
-Cells that dont express MHC-1 get attacked by NK cells.
