4/10&11 biochem/overall Flashcards
I—hyper-chylomicronemia
-whats the problem?
LPL deficiency or altered ApoC-II.
*ApoC-II = LPL cofactor.
I—hyper-chylomicronemia
-Sxs:
Causes pancreatitis, hepa tosplenomegaly, and eruptive/pruritic xanthomas.
I—hyper-chylomicronemia
- what will blood lipid content be like?
- is there inc. risk for atherosclerosis?
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.
IIa—familial hyper-cholesterolemia
- whats the problem?
- what will inc. in blood content?
- Absent or defectiveLDL receptors.
- extremely high cholesterol (LDL has lots of cholesterol).
- heterozygous ~ 300mg/dL
- homozygous ~ 700mg/dL
IIa—familial hyper-cholesterolemia
-inheritance pattern?
-auto-dom.
IIa—familial hyper-cholesterolemia
-Sxs:
-Causes accelerated atherosclerosis (may have MI before
age 20), tendon (Achilles) xanthomas, and corneal arcus.
tendon (Achilles) xanthoma classically seen in which dyspilidemia?
IIa—familial hyper-cholesterolemia
IV—hyper-triglyceridemia
- whats the problem?
- inheritance pattern?
Hepatic overproduction of VLDL. Causes pancreatitis.
*Autosomal dominant.
Abetalipoproteinemia
-whats the problem?
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.
Abetalipoproteinemia
-blood lipid content?
-very low plasma TG & chol levels. Chylomicrons, VLDL, apoB = absent from blood.
Abetalipoproteinemia
- Sxs:
- presentation:
malabsorption, acanthocytes, neuro-problems.
-Presents in early childhood with failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness.
b-HCG level in ectopic pregnancy
-inc/dec/normal?
Lower than expected rise based on dates.
Connection btwn hypothyroidism & amenorrhea?
- hypothyroidism leads to high TRH levels bc of low neg. feedback.
- TRH stimulates PRL release.
- PRL inhibits GnRH.
Relationship btwn TRH, PRL, GnRH?
TRH stimulates PRL release.
-PRL inhibts GnRH.
External hemorrhoid
-venous drainage below pectinate line?
inferior rectal vein => internal pudendal vein => internal iliac vein => IVC.
Loop diuretics
- tox:
- mnemonic:
OH DANG!
Ototoxicity, Hypokalemia, Dehydration, Allergy (sulfa), Nephritis (interstitial), Gout.
glipizide
- what is it?
- tox?
sulfonylurea
-hypoglycemia.
HELLP syndrome
- whats HELLP stand for?
- what type of cells will be seen in peripheral blood?
Hemolysis, Elevated Liver enzymes, Low Platelets.
-thrombotic microangiopathy in liver
-RBCs get sheared as they pass by these micro-clots
in the liver -> schistocytes.
Obsessive compulsive disorder
-Tx:
SSRIs, clomipramine.
How would b-HCG cause gynecomastia?
Acts like LH on leydig cells => makes testosterone => aromatized to estrogen.
(is this right?)
Which cells make testosterone?
Leydig cell, NOT sertoli cells!
3rd degree heart block
-Tx:
pacemaker
Leser-Trélat sign
- sudden appearance of multiple what?
- indicates what?
- seborrheic keratoses.
- indicating an underlying malignancy (e.g., GI, lymphoid).
babesia vs malaria
-difference in appearance in RBC?
babesia has the maltese cross.
Aortic dissection
-can it cause unequal BP in UEs?
-yes, can cause markedly unequal BP in arms.
hemibalism
-ipsi or contralateral effects?
contra
Cerebellum
-does it get its info from ipsi or contra cortex?
Contra cerebrum via middle cerebellar peduncle.
Cerebellum
-does it get its proprioception from ipsi or contra spinal cord?
-ipsi spinal cord via inferior cerebellar peduncle.
Cerebellum: lateral lesion
-propensity to fall toward contra or ipsi side?
-you fall toward ipsi side (injured side).
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.
strep pneumo & viridans
-is it hemolytic?
yes. alpha-hemolytic.
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.
Struvite stones
-aka?
AMP
-Ammonium magnesium phosphate.
1st sign of puberty in girl?
-breast buds form (thelarche)
1st sign of puberty in boy?
-enlargement of the testicles and sprouting of pubic hair
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.
Necrotizing enterocolitis
-happens in which pt pop?
neonates, usually preemies.
- perforation can lead to sepsis & death.
- can see air in bowel wall.
Which coag factor has shortest half life?
7
Which RNA viruses replicate in the nucleus?
orthomyxoviridae & retroviruses.
Which DNA virus replicates in cytoplasm?
poxvirus.
Clinical trials
- whats phase 1?
- what question are they answering?
- who are the volunteers?
“is it safe”?
-Small number of healthy volunteers.
Pleural Effusion:
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec.
- percussion: dull
- fremitus: dec
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.
Spont. pneumothorax
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec.
- percussion: hyperresonant
- fremitus: dec.
Tension pneumothorax
- breath sounds:
- percussion:
- fremitus:
- breath sounds: dec
- percussion: hyperresonant
- fremitus: dec
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).
What shape are amyloid proteins in?
b-pleated sheet structures.
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.
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).
Fabry disease
- enzyme deficiency?
- what builds up?
- α-galactosidase A
- Ceramide trihexoside
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.
Gaucher disease
- which letter?
- whats the menmonic?
- U
- gaUcher: glUcocerebrosidase: glUcocerebroside: hUge organs: U survive: crUnched up paper.
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.
Lysosomal storage disease. They are all auto-recessive except which two? which are what inheritance?
Fabry & Hunter = X linked recessive.
Niemann-Pick disease
- which letter?
- whats the menmonic?
- I
- nIemann-pick: sphIngomyelinase: sphIngomyelin: bIg organs: lIpid-laden macro.
Niemann-Pick disease
-presentation?
- infants will have period of normal development, then lose previously acquired motor skills.
- death before 3yo = profound neurological problems.
Which lysosomal storage diseases have cherry-red macula?
-mnemonic?
Cherry-red macula in diseases w/hyphen in their name.
- Tay-Sachs.
- Niemann-Pick.
Tay-Sachs disease
- which letter?
- whats the menmonic?
- A
- tAy-sAchs: hex-A: gAngliosides: chArry-red mAcula: brAin.
Tay-Sachs disease
-presentation?
- infants will have period of normal development, then lose previously acquired motor skills.
- death before 2yo = profound neurological problems.
Niemann-Pick vs Tay-Sachs
-based just on presentation, whats the difference?
Niemann-Pick has hepatosplenomegaly, while Tay-Sachs has no organomegaly.
Krabbe disease
- Sxs:
- characteristic cell?
Peripheral neuropathy, developmental delay, optic atrophy.
-globoid cells
Krabbe disease
- enzyme deficiency?
- what builds up?
- Galactocerebrosidase
- Galactocerebroside, psychosine
- buildup of these destroys the myelin sheath.
Metachromatic leukodystrophy
- Sxs:
- do pts die from this?
- Central and peripheral demyelination with ataxia, dementia.
- death by early childhood.
Metachromatic leukodystrophy
- enzyme deficiency?
- what builds up?
- Arylsulfatase A
- Cerebroside sulfate
Hurler syndrome
- enzyme deficiency?
- what builds up?
- α-l-iduronidase.
- Heparan sulfate, dermatan sulfate.
Hurler syndrome
-Sxs:
-Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Hunter syndrome
- enzyme deficiency?
- what builds up?
- Iduronate sulfatase.
- Heparan sulfate, dermatan sulfate.
Hunter syndrome
-Sxs:
Mild Hurler + aggressive behavior, no corneal clouding.
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.
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.
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.
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.
Cyclosporine
- whats it bind?
- whats it block?
- Calcineurin inhibitor; binds cyclophilin.
- Blocks T cell activation by preventing IL-2 transcription.
calcineurin inhibitors:
-what do u need to watch out for when using these?
Watch out for reactivation of TB!
Cyclosporine
-notable toxicity?
Nephrotoxicity, hirsutism, gingival hyperplasia.
-hypertension, hyperlipidemia, hyperglycemia, tremor.
gingival hyperplasia
- which drugs can cause this?
- mnemonic?
Phenytoin, verapamil, nifedipine, cyclosporine.
*Poor Vera Never Cums (bc of her nasty gingival hyperplasia).
Name the 2 calcineurin inhibitors:
-what toxicity do they have in common?
- cyclosporine, tacrolimus.
- both are highly nephrotoxic.
Tacrolimus
- whats it bind?
- whats it block?
- Calcineurin inhibitor; binds FK506 binding protein (FKBP).
- Blocks T cell activation by preventing IL-2 transcription.
Tacrolimus
-notable tox:
-nephrotoxicity, inc. risk of diabetes, and neurotoxicity.
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.”
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.
Basiliximab
- mech:
- use?
- Monoclonal antibody; blocks IL-2R.
- Kidney transplant rejection prophylaxis.
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.
Alemtuzumab
- target?
- use?
- mnemonic?
- CD52
- CLL
- “Alymtuzumab”—chronic lymphocytic leukemia.
Bevacizumab
- target?
- use?
- VEGF
- Colorectal cancer, renal cell carcinoma.
Infliximab, adalimumab
- target?
- mnemonic?
- TNF-α
- Rheumatoid arthritis “inflix” pain in “da limbs”.
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.
Omalizumab
- target?
- use?
- IgE
- Allergic asthma; prevents IgE binding to FceRI.
Palivizumab
- use:
- mnemonic:
- RSV prophylaxis for high-risk infants.
- PaliVIzumab—VIrus
Cushing syndrome
-associated w/which cancer?
small cell carcinoma of lung
-can release ACTH.
Dermatomyositis
-associated w/which cancer?
lung cancer
Plummer-Vinson syndrome
-associated w/which cancer?
Squamous cell carcinoma of esophagus.
BRAF
- what does it code?
- which cancer?
- Serine/threonine kinase
- melanoma.
L-myc
-which cancer?
Lung tumor
ras
- codes for what?
- which cancer?
- GTPase
- Colon cancer, lung cancer, pancreatic cancer.
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.
