Session 2 High-Yield

Front 1

Auto-ab for Polymyositis?

Back 1

speckled ANA

Anti-Jo-1 ( most specific for the disease)

Front 2

Tetrad for polyarteritis nodosa?

think medium-sized artery

Back 2

fever, HTN, abdominal pain, renal disease (w/o glomerulonephritis)

Front 3

Clinical manifestation for Myasthenia Gravis?

Back 3

Post- use episodic muscle weakness, ptosis ( FIRST sign for the disease), thymus gland pathologies. Always strongest in the morning d/t accumulationg of Ach overnight.

Front 4

Auto-ab for drug-induced lupus?

Back 4

Anti-histone

Front 5

three types of amyloids seen where?

Back 5

1. Amyloid light chain: multiple myeloma and waldenstrom's

2. amyloid associated protein: chronic inflammation, aging

3. amyloid beta proten: produced by gene on chrom 21 seen in Alzheimer's dz

Front 6

mediators of the 4 types of hypersensitivity and examples of each?

Back 6

Type I: IgE mediated ( Hives, Systemic anaphylaxis)
Type II: Ab mediated ( Erythroblastosis fetalis, drug- induced lupus)
Type III: Immune complex ( Serum sickness seen in vaccines, post-strep glomerulonephritis)
Type IV: cell-mediated ( poison ivy, PPD)

Front 7

Ras is a what and seen in what disease?

Back 7

Oncogene seen in colon carcinoma

Front 8

4 places seen in production of alk Phos?

Back 8

1. bone- to track bone cancers and to diagnose non-neoplastic bone disease
2. kidneys- to track renal cell carcinoma
3. placenta
4. biliary system- to diagnose non-neoplastic disease of the biliary system

Front 9

primary and secondary site for metastases for breast and lung cancer?

Back 9

breast caner: primary bone, secondary brain
lung cancer: primary brain, secondary bone

Front 10

steps to answer pedigress Q's?

Back 10

1. write out the 4 possiblities
2. if generations skipped, cross out dominant inheritance
3. if male-to-male transmitssion, cross out X-linked
4. if more possibilities remaining, then do Punnett Square or consider de novo mutation and mitochondrial inheritance

Front 11

two disease that are x-linked dominant inheritance?

Back 11

Hypophophatemic rickets: inherited vit D resistance, bowed legs
incontinentia pigmenti- mini teeth and patch alopecia

Front 12

what's mitochondrial inheritance?

Back 12

mitochondrial genes only transmitted by females. e.g. Leber's optic neuropathy

Front 13

inheritance, defects and some clinical findings of cystic fibrosis?

Back 13

autosomal recessive by defect in chloride trans-membrane movement in epithelial cells.
meconium ileus, recurrent respiratory infections, chronic pancreatitis, cholelithiasis, malnutrition

Front 14

what's the mucopolysaccharidoses and 3 disease in this group?

Back 14

inability to metabolize glycosaminoglycans

disease: Hunter, Hurler, Sheie

Front 15

6 disease in sphingolipidoses?

Back 15

Niemann-pick, Gaucher's, Krabbe's, Tay-sachs, Metachromatic dystrophy, Fabry.

Front 16

key clincial findings of hemochromatosis?

Back 16

bronze-colored skin, new onset type I-like diabetes

Front 17

If you have positive Anti-Scl 70, what autoimmune disease do you have?

Back 17

Progressive systemic sclerosis (PSS, aka scleroderma)

Front 18

If your patient has a positive Nikolsky's sign, what autoimmune disease is it?

Where is the fluid-filled sac located?

Back 18

Pemphigus

between the keratin and keratinocytes.

FYI: patients have anti-keratinocyte autoantibodies.

Front 19

How do you differentiate edema from myxedema?

what autoimmune disease commonly presents with pretibial myxedema?

Back 19

myxedema does not pit.

Graves disease

Front 20

Auto-ab for hashimoto's thyroiditis

Back 20

anti-microsomal

Front 21

Is Alzheimer's disease considered localizd or systemic amyloidosis?

Back 21

localized

Front 22

What is the most common trigger for Type 3 HS?

Back 22

vaccines

Front 23

What tumor suppressor gene is important for breast, colon, and lung carcinoma?

Back 23

p53

Front 24

What tumor marker is present in Hodgkin's disease?

What cell type is classic in diagnosing Hodgkin's disease?

Back 24

CD 30

Reed-Sternberg cell

Front 25

If you have high AFP on the quad screening at 15-17wk of gestation, what does this suggest?

Back 25

Multiple gestation
Neural tube defect
yolk sac tumor or endodermal sinus disease (ovarian or testicular cancer)

Front 26

on a pedigree, if theres no male to male transmission, you can rule out ....?

Back 26

x-linked diseases

Front 27

clinical presentation: mini teeth and patchy alopecia

What is this disease and what is the inheritance pattern?
(AD, AR, XD, or XR)

Back 27

incontinentia pigmenti

XD

Front 28

If a mother has a disease and passes the disease to ALL her children, what kind of inheritence is it?

Back 28

mitochondrial inheritance.


(ALL children expresses the disease --- solid circles/squares)

Front 29

In phenylketonuria, what aa cant you metabolize?

What type of genetic disorder is this? (AD, AR, XD, XR)

Back 29

phenylalanine.....so you have high levels of phenylketones (break down products of phenylalanine)

AR


clinical presentation:
1) a relatively light complexion
2) inability to make melanin, NE, or dopamine
3) neurotoxicity

Front 30

What does Gierke disease, Pompe disease and McArdle disease all have in common?

What type of genetic disorder is this? (AD, AR, XD, XR)

Back 30

Inability to utilize glycogen normally ---
Glycogen storage disorder

AR

Front 31

What diseases is the only sphinolipidoses that is X-linked recessive?

---all others are autosomal reccessive

Back 31

Fabry disease

--unable to metabolize sphingolipids involved with myelin and the CNS.