Don't Forget Version 2

Front 1

Inheritance of osteogenesis imperfecta

Back 1

AD

Front 2

Inheritance of Alport's Syndrome

Back 2

X-linked recessive

Front 3

What is DNA laddering and what does it indicate?

Back 3

Appearance of DNA fragments in multiples of 180bp on electrophoresis; indicates apoptosis

Front 4

Genetic cause of multiple children presenting with an AD disease, but both parents are normal?

Back 4

Germline mosaicism

Front 5

Imprinting diseases are on chromosome

Back 5

15

Front 6

Inheritance of hypophosphatemic rickets

Back 6

X-linked dominant (vitamin D resistant rickets)

Front 7

NF-1 has optic

Back 7

gliomas

Front 8

Inheritance of G6PD

Back 8

X-linked recessive

Front 9

Longest known human gene

Back 9

Dystrophin

Front 10

Kennedy Disease

Back 10

X-linked bulbospinal atrophy

Front 11

Dehydrogenase enzymes require ___ while carboxylase enzymes require ___

Back 11

B1
B7

Front 12

HMG-CoA reductase is used in cholesterol synthesis; what is HMG-CoA synthase used in?

Back 12

Ketogenesis

Front 13

Diplopia, dysphagia, dysphonia

Back 13

Botulinum

Front 14

Imperforate anus is associated with

Back 14

Urinary tract defects

Front 15

Very high fever in a smoker with diarrhea, confusion, and cough --> chest pain

Back 15

Legionnaires' disease

Front 16

Neurophysin

Back 16

Carrier protein for ADH and oxytocin

Front 17

Unexpected enzyme released by mast cell degranulation

Back 17

Tryptase

Front 18

____ inhibits lipoic acid, which is part of the complex for these 3 enzymes

Back 18

Arsenic
Pyruvate dehydrogenase
Alpha-ketoglutarate dehydrogenase
Branched chain ketoacid dehydrogenase

Front 19

Vomiting, rice water stools, garlic breath

Back 19

Arsenic poisoning

Front 20

Rx for pyruvate dehydrogenase deficiency

Back 20

Lysine and leucine (ketogenic aas)

Front 21

4 irreversible enzymes of gluconeogenesis

Back 21

Pyruvate carboxylase
PEP carboxylase
Fructose-1,6,-bisphosphatase
Glucose-6-phosphatase

Front 22

Glucose + fructose =
Glucose + galactose =

Back 22

Sucrose
Lactose

Front 23

Glucose --?--> sorbitol --?--> fructose

Back 23

Aldose reductase
Sorbitol dehydrogenase

Front 24

Low stool pH, high stool osmotic gap, high breath hydrogen content

Back 24

Lactase deficiency

Front 25

Rx for hyperammonemia

Back 25

Benzoate or phenylbutyrate (bind aa --> excretion)
Lactulose (disaccharide --> acidification --> ammonia trap)

Front 26

Main aa in blood?

Back 26

Glutamine (transports ammonia from tissues --> kidney)

Front 27

Rx for cystinuria?

Back 27

Acetazolamide to alkalinize urine

Front 28

Erythrocytes can't use ketone bodies for energy b/c they lack ___, whereas hepatocytes can't because they lack ____

Back 28

Mitochondria
Succinyl Co-A acetoacetate CoA transferase

Front 29

Where is rRNA synthesized?

Back 29

Nucleolus

Front 30

What enzyme allows pts with fructosuria to still use fructose for glycogen synthesis?

Back 30

Hexokinase

Front 31

Horseshoe kidneys get trapped under?

Back 31

Inferior mesenteric artery

Front 32

What causes bicornuate uterus?

Back 32

Incomplete fusion of paramesonephric ducts

Front 33

Failure of obliteration of processus vaginalis --> 2 things

Back 33

Hydrocele
Indirect inguinal hernia

Front 34

Ureteric bed (from end of mesonephros) --> (4 things)

Back 34

Ureter
Pelises
Calyces
Collecting Ducts

Front 35

Metanephric mesencyme -->

Back 35

Glomerulus and renal tubules to distal convoluted tubule

Front 36

Which branch of CN X is responsible for swallowing

Back 36

Superior laryngeal branch

Front 37

Superior laryngeal nerve innervates this laryngeal muscle

Back 37

Cricothyroid (all others are via recurrent laryngeal branch)

Front 38

What releases major basic protein?

Back 38

Eosinophils (antihelminthic toxin)

Front 39

Potential immunogenic cause of SLE?

Back 39

Mutated Fas gene --> impaired deletion of autoreactive T cells

Front 40

3 immune privileged sites

Back 40

Eyes, testes, brain

Front 41

High CD4: CD8 ratio in bronchoalveolar lavage fluid

Back 41

Sarcoidosis

Front 42

Deficiency of C1, C3, and C4

Back 42

Lupus-like syndrome

Front 43

Fever, urticaria, arthralgias, proteinuria ,glomerulonephritis, lymphadenopathy, and fibrinoid necrosis, and neutrophils in vessels

Back 43

5-10 days after drug:
Serum sickness

Front 44

Direct Coombs

Back 44

Add pt's RBCs (to anti-Ig; agglutination if RBCs are coated with Ig)

Front 45

Indirect Coombs

Back 45

Add pt's serum (to normal RBCs: agglutinate if serum has anti-RBC surface Ig)

Front 46

What mediates septic shock?

Back 46

TNF-alpha

Front 47

What mediates cachexia in cancer?

Back 47

TNF-alpha

Front 48

What is aldesleukin and what cancers is it used for?

Back 48

IL-2
RCC and metastatic melanoma

Front 49

Recurrent Giardia infections

Back 49

IgA deficiency

Front 50

Which 3 immune deficiency diseases are X-linked?

Back 50

Bruton's
SCID (most common form)
Wiskott-Aldrich

Front 51

What is defective in Bruton's?

Back 51

BTK, a tyrosine kinase gene, so can't form pro B cells from pre B cells

Front 52

Which immune deficiency is treated with IFN-gamma?

Back 52

IL-12 deficiency (isn't produced by activated macrophages, so can't stimulate Th1 cells to produce IFN-gamma)

Front 53

Why does adenosine deaminase deficiency cause SCID?

Back 53

--> increased adenine, which is toxic to B and T cells

Front 54

Ataxia-telangiectasia triad: also presents with

Back 54

IgA deficiency

Front 55

Wiskott-Aldrich deficiency

Back 55

TIE
Thrombocytopenic purpura
Infections
Eczema

Front 56

Which immune deficiency has increased IgE and IgA and decreased IgM?

Back 56

Wiskott-Aldrich (progressive deletion of B and T cells)

Front 57

Delayed separation of umbilicus or lack of pus indicates

Back 57

LFA-1 deficiency in leukocyte adhesion deficiency

Front 58

Partial albinism in

Back 58

Chediak-Higashi Syndrome

Front 59

Catalase positive organisms?

Back 59

S. aureus, E. coli, Aspergillus, Pseudomonas cepacia, Serratia, Nocardia

Front 60

MPO deficiency is similar to CGD, but also susceptible to

Back 60

Catalase negative organisms

Front 61

What media is required for N. gonorrheae to grow?

Back 61

Thayer-Martin (VPN): vancomysin, polymyxin, and nystatin (inhibiting G+s, G-s, and fungi)

Front 62

Lowenstein-Jensen agar is used to culture

Back 62

TB

Front 63

Sabouraud's agar is used to culture

Back 63

Fungi

Front 64

Tellurite agar grows

Back 64

Diphtheria

Front 65

What bug produces a lecithinase as its toxin?

Back 65

Clostridium perfingens (--> gas gangrene and hemolysis)

Front 66

What is the only bug with a polypeptide capsule

Back 66

Anthrax (contains D-glutamate)

Front 67

Rx for anthrax

Back 67

Cipro

Front 68

Rx for leprosy

Back 68

Dapsone

Front 69

Rx for lyme disease

Back 69

Doxycycline
Ceftriaxone

Front 70

Sulfadiazine and pyrimethamine combo is the treatment for

Back 70

Toxoplasma gondii

Front 71

Empirical meningitis Rx:

Back 71

Ceftriazone (covers N. miningitidis, S. pneumoniae, GBS, and H. influenzae) + ampicillin (Listeria)

Front 72

Bean shaped diplococci

Back 72

Neisseria

Front 73

Where to do a lumbar puncture?

Back 73

L4/L5 (iliac crest) (btwn spinal cord and end of subarachnoid space/ cauda equina)

Front 74

ToRCHES: toxo

Back 74

Chorioretinitis
Hydrocephalus
Intracranial calcifications

Front 75

ToRCHES: Rubella

Back 75

PDA
Cataracts
Deafness
Blueberry muffin rash

Front 76

ToRCHES: CMV

Back 76

Hearing loss
Seizures
Petechial rash

Front 77

ToRCHES: Herpes

Back 77

Temporal encephalitis

Front 78

Macular rash several days after fever

Back 78

Roseola

Front 79

Antibiotic that can cause Vita K deficiency

Back 79

Cephalosporins

Front 80

Resistance to aminoglycosides

Back 80

Transferase enzymes that inactivate drug by acetylation, phosphorylation, or adenylation

Front 81

Sulfa drugs without sulfa in the name

Back 81

Christine Angrily Prepared For This
Celecoxib
Acetazolamide
Probenecid
Furosemide
Thiazides

Front 82

Toxicity of foscarnet

Back 82

Nephrotoxic --> hypocalcemia and hypomagnesemia --> seizures

Front 83

Antibiotics to avoid in pregnancy

Back 83

SAFE Moms Take Really Good Care
Sulfonamides
Aminoglycoside
Fluoroquinolones
Erythromycin (and clarithromycin) --> cholestatic hepatitis & embryotoxic, respectively
Metronidazole
Tetracyclines
Ribivarin
Griseofulvin
Chloramphenicol

Front 84

Herpesviruses acquire their envelopes from

Back 84

Budding through the nuclear membrane (vs. most other viruses, which acquire them by budding through the PM)

Front 85

Gardner's Syndrome

Back 85

FAP + osseous and soft tissue tumors

Front 86

Turcot's Syndrome

Back 86

FAP + malignant CNS tumor

Front 87

Causes of micronodular vs. macronodular cirrhosis

Back 87

Metabolic insult (hemochromatosis, Wilson's) vs hepatic necrosis (postinfectious or drug-induced hepatitis)

Front 88

Inheritance and treatment of von Willebrand's?

Back 88

AD
DDAVP

Front 89

Seromarkers of Reed-Sternberg cell?

Back 89

CD30+ and CD15+

Front 90

alpha-1AD specific antagonist

Back 90

Tamsulosin

Front 91

Ritodrine/ terbutaline

Back 91

Beta-2 agonists that relax the uterus and reduce premature uterine contractions

Front 92

Exacerbation of these 3 diseases with cholinomimetics

Back 92

COPD
Asthma
PUD

Front 93

Parathion is a

Back 93

Organophosphate

Front 94

Drug to reduce urgency in mild cystitis and reduce bladder spasms

Back 94

Oxybutynin, glycopyrrolate
(muscarinic antagonists)

Front 95

Peptic ulcer (non H pylori) treatment

Back 95

Muscarinic antagonists: methscopolamine, pirenzepine, propantheline

Front 96

-fenacins and -tercedins are used for

Back 96

Spasms of urinary bladder

Front 97

Drug for motion sickness

Back 97

Scopolamine

Front 98

4 selective beta2 agonists

Back 98

Metaproterenol
Albuterol
Salmeterol
Terbutaline

Front 99

Amphetamine and ephedrine are both

Back 99

Indirect sympathomimetics (release stored catecholamines)

Front 100

Rx for narcolepsy, obesity, or ADD

Back 100

amphetamines

Front 101

Rx for nasal decongestion, urinary incontinence, hypotension

Back 101

Ephedrine