Bbc: Session 3- 25

Front 1

Autoimmune hemolytic anemia

Back 1

Anti-RBC

Triad: Warm-- severe anemia, splenomegaly, high MCHC
cold- anemia, raynauds, acrocyanosis

Front 2

Bullous Pemphigoid

Back 2

Anti-epidermal basement membrane

Triad: Bullae, pruritis, elderly

Front 3

Type I DM (insulin dependent DM)

Back 3

Anti-islet cell (beta cell)

Triad: Hyperglycemia, DKA risk [in a stage of no insulin because there is no inhibitory reponse to hormone senstiive lipase-which makes FA-> Ketone bodies when in excess], infections

later you see: retinopathy, nephropathy, and atherosclerosis

Front 4

Pempigus

Back 4

Anti-Keratinocyte Junction--loosens up tight junctions

Triad: Nikolsky's sign (light brush can rub skin off), oral and skin erosions, older

Front 5

Pernicious anemia

Back 5

Anti-IF, anti- patietal cell

Triad: Megaloblastic anemia, gastritis (chronic type A), vitamin B12 deficiency

Front 6

Microscopic Polyangitis (in capillaries)

Back 6

P-ANCA (peri-nuclear anti-neutrophil cytoplasm)

Triad: Hemopytsis, hematuria, palpable purpura (with glomerulonephritis)

Front 7

Polymyositis

Back 7

Speckled ANA (anti-nuclear antibody) 20% also have anti-jo-1

Triad: proximal muscle weakness, elevated muscle enzymes, elevated myoglobin

Front 8

Progressive Systemic sclerosis (PSS: scleroderma)

Back 8

Anti-scl 70

Triad: Visceral organ fibrosis, facial tightening, sclerodacyly

Front 9

Sjogren's syndrome

Back 9

Anti- SS A (anti-RO) and anti- SS B (anti-La)

Triad: Xerostomia (dry mouth), keratoconjuctivitis sicca, arthritis

Front 10

Idiopathic thrombocytopenia purpura (adult form)

***childhood one is not autoimmune ***

Back 10

Anti-structural platelet

Triad: thrombocytopenia, Petechiae, and purpura, muscosal bleeding

Front 11

Vitiligo

Back 11

Anti-melanocyte

Triad: hypopigmented area of skin, white hair in areas of affected skin, sun burns

Think creula from 101 dalmations

Front 12

polyarteritis nodosa (medium sized blood vessels effected(

Back 12

Tetrad: fever, hypertension, abdominal pain, and renal disease (without glomerulonephritis)

Front 13

Rhematoid Arthritis

Back 13

Anti- IgG (rheumatoid factor)

4/7 to diagnose:
Morning stiffness > 1 hr , Arthritis in 3 or more joints simultanously, Arthritis in hand joints, symmetrical arthritis, rheumatoid nodules, Serum rheumatoid factor (anti-IgG), Erosions or bony decalcification on x-ray

Front 14

SLE

Back 14

Anti- nuclear antibodies (ANA) for screening; Anti-ds DNA for confirmation

Triad: Malar rash (butterfly), lupus nephropathy, arthritis

Front 15

Drug- induced lupus

(hydralazine and procanomide)

Back 15

Anti-histone

Triad: Arthralagia, fever, serositis

Front 16

CREST

***

Back 16

Anti-centromere

PENTAD: calcinosis, Raynauds, esophageal dymotilty, sclerodactyly, telangiectasia (small dilated BV near surface of skin)

Front 17

Myasthenia Gravis

Back 17

Anti- Ach receptor

post use episodic muscle weakness, ptosis, thymus gland pathologies

Front 18

Grave's disease

Back 18

Anti-TSH receptor

Triad: symtomatic hyperthyroidism, exopthalmos, pretibial myxedema (non-pitting edema)

Front 19

Hashimoto's thyroiditis

Back 19

Anti-microsomal

Triad: Nontender goiter, typically female, hypothyroidism (which becomes symptomatic)

Front 20

Wegener's granulomatosis

Back 20

Anti-neutrophil cytoplasm (ANCA)

Triad: sinusitis, glomerulonephritis, lung lesions (cavitary)

Front 21

Celiac Sprue

Back 21

Anti-Gliadin

Triad: malabsorption (ofte with diarrhea), dermatitis herpetiformis, short stature

Front 22

Good Pasture's syndrome

Back 22

Anti-glomerular basement membrane (anti-GBM)

Triad: severe glomerulonephritis, pulmonary hemorrahage, dyspnea

Front 23

Primary biliary cirrhosis (PBC)

Back 23

Anti- Mitochondrial

Triad: pruritis (after hot showers and sleep), female, jaundice

Front 24

amyloid-beta protein is deposited where and what does it cause?

Back 24

produced by a gene located on chrosome 21 and deposits in brain to cause Alzheimer's disease

Front 25

What is always a beta-pleated sheet of protein?

Back 25

Amyloid

Front 26

amyloid light chain (AL) is associated with what?

What about amyloid associated protein or AA

Back 26

multiple myeloma and waldenstorms

chronic inflammation and aging

Front 27

Allergens: pollen, insect venom, animal dander
examples: allergic rhinitis, eczema, hives , allergic gastroenteopathy, ASTHMA, systemic anahylaxis

Back 27

Type I hypersenstivity

Ig-E mediated ; usually 2nd exposure is the problem due to pre-formed Ab

Front 28

Blood antigens during transfusions, the Rh factor issue, quinine, hydralazine, infectious agents and MOLECULAR MIMICRY, autoimmunity

examples: ABO transfusions, erythroblastosis fetalis, rhematic fever......AUTOIMMUNE diseases

Back 28

Type II hypersensitivity

antibody-mediated cytotoxicity

Front 29

Erythroblastosis fetalis

Back 29

Mom rh - , fetus rh+ --- delivery and blood mixture---mom develops antibodies against rh.

second preganancy...mom now has Rh + antibodies and ofcourse IgG ones.. so those through placenta and mess up the fetus's RBC, which was sadly Rh +

Front 30

Drugs (penicillin) VACCINES, inhaled antigens such as fungus

examples: Arthus reaction, SERUM SICKNESS, Post- strep glomerulonephritis, rheumatoid arthritis, SLE

Back 30

Type III hypersenstivity

immune complex depostions

Front 31

What is the culprit for the sequale of not treating a strep throat?

Back 31

Our body makes antibodoes towards it which deposit in the heart (which looks our mouth apparently) and you get Acute rheumatic fever.

Front 32

Delated type: poison ivy, mycobacterial infection, transplanted tissue, T cell medaited cytoxicity and macrocphages involved

examples: contact dermatitis, acute graft rejection, positive PPD test, TB, viral infections, neoplasia, tuberculoid leprosy

Back 32

Type IV hypersentivity

Cell- mediated

Granulomas are type IV that never ended.

Front 33

Prefomed antibodies bind to antigen on tissue that was transplanted. Withing minutes ot hours.

Back 33

Hyperacute rejection

Type II hypersensitivty

Front 34

Memory T cells recognize antigen; CD8 destro graft. Takes days to months

Back 34

Acute rejection

Type IV (T cell mediated)

Front 35

Antibodies develop over time and damage graft vasculature; months to years

Back 35

Chronic rejection

Type II and III hypersensitivity

Front 36

T cells in transplanted tissue attach host; days to weeks

Back 36

Graft vs Host

Type IV (T- cell mediated )

Front 37

c-myc- 1

Back 37

Burkitt's lymphoma

Front 38

c-abl

Back 38

Chronic myelogenous leukemia (CML)

Front 39

ras

Back 39

colon carcinoma

Front 40

BRCA-1

Back 40

breast and ovarain cancer

Front 41

p53

Back 41

breast, colon, and lung carcinoma

Front 42

tumor marker for adenocarcinomas

Back 42

CEA: carcinoembryonic antigen

Front 43

Alpha-fetoprotein

other uses?

Back 43

hepatocellular carcinoma

used for screening of fetus. If high means nueral tube defects or twins/triplets. If low means downs

Front 44

PSA and acid phosphatase

Back 44

Prostate cancer.

PSA is also for screening of prostate cancer

Front 45

Alkaline phosphatase

Back 45

diagnose non-neoplastic diseases as well.
produced normally in bone, kidney, placenta **, biliary system

Front 46

5` HIAA (5`-hydroxyindole acetic acid)

Back 46

Carcinoid

Front 47

CA-19-9

Back 47

COLON, pancreatic, or breast CA

Front 48

CA-125

Back 48

Ovarian cancer

Front 49

CD-25

Back 49

hairy cell leukemia, adult T cell leukemia

Front 50

CD-30

Back 50

hodgkin's disease

Front 51

neuron- specific enolase

Back 51

small cell lung ca, neuroblastoma

Front 52

B-hcG

Back 52

prego, gestational trophoblastic disease, choriocarcinoma

Front 53

Metastasis

Back 53

Breast --- to bone and brain
Lung--- to brain and bone
Bone---to breast and lung
Brain---to lung and breast

Front 54

hypophosphatemic rickets and incontinetia pigmenti have what type of inheritance

Back 54

X-linked dominant

Front 55

Leber's optic neuropatgy (bilateral blindness) can occur at any age in people who have this inherited disease. What is the inheritance pattern?

Back 55

Mitochondrial inheritance

From mother to kids

Front 56

clinical findings: meconium ileus, viscous mucus, recurrent respiratory infections, postiive sweat test, chronic pancreatitis, cholelithiasis, malnutrition

Back 56

Cystic fibrosis: mutation in CFTR gene

Autosomal recessive

Front 57

Unable to metabolize phenylalanine causing a buildup. Inability to make melanin, NE and dopamine

Back 57

Phenylketonuria

mutation in phenylalanine hydroxylase
autosomal recessive

Front 58

Inability to make melanin

Back 58

Albinism.

Mutation of the tyrosinase enzyme

Autosomal recessive

Front 59

alpha 1-antitypsin deficiency causes what?

Back 59

inability to inhibit elastase (breaks down elastin).

You get destruction of lung, resulting in emphysema because lung looses elastic recoil

Front 60

Metabolic diseases usually have what inheritance pattern?

Back 60

Autosomal recessive

Front 61

Thalassemia, inheritance pattern?

Back 61

Autosomal recessive

Front 62

Von Gierke , pompe. MdArdle diseases are examples of what?

Back 62

Glycogen storage disease.

inabability to utlitize glycogen normally.

Front 63

with what two diseases you see hypoglycemia during meals?

Back 63

Von Gierke and pompe

Front 64

unable to metabolize glycosaminoglycans; critical component of CT tissue is what type of disease?

--mental retardation and corneal clouding

Give some examples

Back 64

lysosomal storage disease

examples: Hurler, Scheie, Hunter (X-linked recessive)

others are autosomal recessive

Front 65

inability to metabolize sphingolipids, molecules involved in myelin and the CNS is what?

examples?

Back 65

sphingolipidoses

Major types: Niemann picks, Gaucher's, Krabbe's, Tay- Sachs, Metochrimatic dystrophy, Fabry (x-linked recessive)