Goljan- High Yeild 100 Pg.

Front 1

__________=best used to screen for disease. Buzz words: Excludes and Includes

Back 1

Sensitivity

Front 2

______= confirms disease since there are no FP test results.

Back 2

Specificity

Front 3

How do you calculate the reference interval of a test?

Back 3

double the SD. Ex. Mean is 100, SD is 5. The reference interval is 90-110.

Front 4

chance of ______increases when more than one test is ordered on a patient.

Back 4

FP

Front 5

_______is a marker of PRECISION (reproducibility).

Back 5

SD

Front 6

what inhibits sickling in newborns with sickle cell disease?

Back 6

HgbF
HgbS must be >60% for spontaneous sickling.

Front 7

What is used to reduce sickle cell crises?

Back 7

Hydroxyurea- increases synthesis of HgbF

Front 8

Whether or not your patient is fasting will effect what lab value?

Back 8

LDL's only.

Front 9

woman on phenytoin who is also taking BC gets pregnant. Why?

Back 9

Phenytoin revs up SER and increased metabolism of BC pills

Front 10

What drugs enhance the cytochrome system in the liver SER?

Back 10

alcohol
barbs
rifampin
phenytoin

Front 11

Why would an alcoholic have increased GGT?

Back 11

alcohol enhances P450 in liver--synthesis of gamma-glutamyltransferase (GGT). good enzyme marker for alcoholic liver disease

Front 12

Why do alcoholics have increased ketones?

Back 12

end product of alcohol, acetyl CoA + the excess NADH= B-hydroxybutyric acid

Front 13

Why do alcoholics have increased FA synthesis?

Back 13

acetyl coA is end product of alcholol----first step for FA synthesis

Front 14

Why do alcoholics have hyperuricemia?

Back 14

lactic acid/Ketoacids compete with uric acid for excretion into kidneys. Same reason why pts. with gout should not drink alcohol.

Front 15

Why do smokers have respiratory acidosis?

Back 15

air gets in but can't get out--- CO2 is retained

Front 16

Why do smokers have absolute neutrophilic leukocytosis?

Back 16

smoke metabolites decrease LAD on endothelial cells--- mobilizing neutrophils in circulation

Front 17

What can cause plasma turbidity?

Back 17

TG's (NOT cholesterol)--interferes with measurement of enzymes and serum Na

Front 18

How is hypoalbuminemia assoc. with hypocalcemia?

Back 18

albumin binds 40% of the total calcium in the blood. when albumin decreases, serum calcium decreases. But, still no tetany, because the active ionized calcium levels are normal

Front 19

What is the Lyon's Hypothesis?

Back 19

Barr bodies! one of the 2 X chromosomes in a female is randomly inactivated

Front 20

Do males have Barr bodies?

Back 20

Not normally.
Klinefelter pts. do since they are XXY

Front 21

Do Turner's patients have a barr body?

Back 21

No b/c they are XO.

Front 22

4 base insertions ----frameshift mutation---defective hexosaminidase?

Back 22

Tay Sachs

Front 23

point mutation where T is replaced by A, valine instead of glutamic acid in 6th position in B-globin chain?

Back 23

Sickle Cell

Front 24

point mutation producing a STOP codon leading to termination of DNA transcription of B-globin chains?

Back 24

B-Thalassemia Major

Front 25

What is a sex linked recessive trinucleotide repeat disorder?

Back 25

Fragile X syndrome (females carriers with the repeats will eventually become symptomatic)

Front 26

unequal seperation of chromosomes in the first phase of meiosis?

Back 26

Nondisjunction
ex. Downs, Turners

Front 27

Nondisjunction of chromosomes in mitotic division in the early embryonic period?

Back 27

Mosaicism

Front 28

one part of a chromosome is transferred to a non-homologous or homologous chromosome?

Back 28

Translocation
(Balanced Translocation if fragment is functional)

Front 29

balanced translocation with reciprocal translocation btwn 2 acrocentric chromosomes?

Back 29

Robertsonian translocation in Down's

Front 30

deletion of short arm of chromosome 5?

Back 30

Cri-du-Chat

Front 31

loss of a small portion from one chromosome? give 2 examples.

Back 31

Microdeletion.
Prader Willi, Angelmans

Front 32

What type of genetic disorders have the highest risk of recurrence?

Back 32

Mendelian disorders

Front 33

Genetic disorders commonly seen in African Americans? list 4.

Back 33

Sickle Cell
G6PD
alpha/beta thalassemia
hereditary persistence of HgbF

Front 34

MC genetic dx interfering with the patients ability to reproduce? hint: Northern Europeans

Back 34

Cystic Fibrosis

Front 35

Genetic disorders of Mediterranean people? list 3.

Back 35

Sickle Cell
G6PD
B thalassemia

Front 36

Genetic Disorder in SE Asia?

Back 36

Alpha Thal

Front 37

MC genetic cause of MR?

Back 37

Downs

Front 38

major determining factor for survival of a newborn with Down's?

Back 38

endocardial cushion defects

Front 39

clenched hands + rocker bottom feet?

Back 39

Edwards (trisomy 18)

Front 40

cleft lip/palate + severe MR + polydactyly+ cystic kidneys?

Back 40

Patau's (trisomy 13)

Front 41

second MCC of genetic MR?

Back 41

Fragile X

Front 42

CGG trinucleotide repeat?

Back 42

Fragile X

Front 43

SXR disease with HGPRT defiency?

Back 43

Lesch Nyhan Syndrome

Front 44

no inhibition of PRPP---hyperuricemia, MR, self mutilation?

Back 44

Lesch Nyhan Syndrome

Front 45

What type of inheritance should you suspect when there is an increased prevalence of disease among relatives of affected individuals?

Back 45

Multifactorial (polygenic) inheritance- multiple small mutations + effect from environment

Front 46

Give an example of a a Mitochondrial DNA disorder.

Back 46

Leber's Hereditary Optic Neuropathy

Front 47

What is the calculation of prevalence? Ex. CF has carrier rate of 1/25.

Back 47

# couples at risk= carrier rate in males x carrier rate in females.
1/25 x 1/25= 1/625 couples at risk
risk of having a child with CF is 1/4, so 1/625 x 1/4= prevalence of 1/2500

Front 48

calculate the carrier rate. CF has a prevalence of 1/2500. (simplified Hardy Weinberg)

Back 48

1/2500 / 1/4= 1/625 number of couples at risk
1/square root 625= 1/25

Front 49

Oligohydramnios producing facial and limb abnormlaities (Potters facies) is what kind of anatomical defect?

Back 49

Deformation

Front 50

What kind of anatomical defect occurs in the last 2 trimesters from extrinsic forces?

Back 50

Deformation

Front 51

disturbance that occurs in the morphogenesis of organs?

Back 51

Malformation ex. VSD

Front 52

When are teratogens the most dangerous?

Back 52

embryonic period- first 9 weeks (esp. the 4th and 5th week)

Front 53

MC teratogen in the US?

Back 53

Alcholol-
MR, IUGR, maxillary hypoplasia, microcephaly, ASD, hypoglycemia at birth

Front 54

What is the teratogen? baby is born small, irritable, high pitched cry with excessive hunger, salivation, sweating, tremors and is fist sucking. also has temp. instability and seizures?

Back 54

Heroin

Front 55

Isotretinoin effects on baby?

Back 55

Craniofacial abnormalities (small ears, micrognathia, cleft palate)
Cardiac defects
CNS malformations (hydrocephalus, microcephaly)

Front 56

Effects of teratogen phenytoin?

Back 56

nail hypoplasia
CNS abnormalities
cleft lip/palate
Congenital heart dx

Front 57

What risk is a baby for if the mother has SLE?

Back 57

mother gave anti-Ro (anti-SS-Ag) IgG antibodies in their serum to baby---Complete Heart Block

Front 58

Thalidomide is currenlty used to trx ____________.

Back 58

Leprosy

Front 59

Teratogen Valproate effects?

Back 59

Open Neural Tube defects

Front 60

Teratogen Warfarin effects?

Back 60

CNS defects
nasal hypoplasia

Front 61

MC in utero viral infection?

Back 61

CMV

Front 62

MC complications of congenital CMV?

Back 62

bilateral sensorineural hearing loss
periventricular calcification
chorioretinitis

Front 63

CMV ddx? trx?

Back 63

Urine cytology- look for Owl Eyes
Ganciclover is DOC (if doesn't work give Foscarnet)

Front 64

transplacental infection in the first 8 weeks of pregancy-
1. sensorineural deafness
2. cataracts
3. PDA

Back 64

Rubella

Front 65

late pregancy infection that can cause chorioretinitis and calcification in basal ganglia of the baby?

Back 65

Toxoplasmosis

Front 66

Gold standard ddx for Toxoplasmosis?

Back 66

Sabin Feldman dye

Front 67

What is your ddx?
Baby with frontal bossing, hepatomegaly, osteochondritis, mucocutaneous lesions, pneumonia alba, peristent rhinitis, rhagades, interstitial keratitis, sersorineural hearing loss, saber shins, hutchison's teeth?

Back 67

Syphillis-- uncommon infxn during the first 5months of pregnancy.

Front 68

Congenital Syphillis trx?

Back 68

Penicillin

Front 69

What is your ddx?
chorioretinitis
limb hypoplasia
cortical atrophy in the brain
vesicular skin lesions

Back 69

Congenital Varicella Zoster

Front 70

MCC of blindness in elderly?

Back 70

macular degeneration

Front 71

most susceptible protein to ionizing radiation?

Back 71

DNA-- tissue susceptibility to radiation is directly related to degree of mitotic activity. indirectly related to degree of specialized tissue.

Front 72

Tissues with a high radiosensitivity?

Back 72

hematopoietic cells are most affected, germinal cells in testes, ovaries

Front 73

tissue most resistant to radiation?

Back 73

Brain

Front 74

What UV is germicidal?

Back 74

UVC

Front 75

What UV causes sunburns?

Back 75

UVB

Front 76

What UV is a Wood's lamp?

Back 76

UVA

Front 77

What type of UV light causes Basal cell carcinoma?

Back 77

UVB

Front 78

precursor to Sqamous Carcinoma of the Skin?

Back 78

Actinic Keratosis "sandpaper"

Front 79

What should be done to prevent high altitude injury?

Back 79

acclimization
acetazolamide

Front 80

major site of alcohol reabsorption?

Back 80

small intestine- 75%

Front 81

what can occur 3-5 days after complete withdrawal from alcohol?

Back 81

delirium tremens

Front 82

MOA of Disulfiram?

Back 82

blocks aldehyde dehydrogenase

Front 83

population with Aldehyde Dehydrogenase defcy?

Back 83

Asians

Front 84

What cancers is there increased risk with alcohol use?

Back 84

Squamous Carcinoma- Oropharynx, mid-esophagus, larynx
Adenocarcinoma- pancreas, liver

Front 85

rapid IV trx of Hyponatremia causes _________.

Back 85

Central Pontine Myelinolysis

Front 86

MCC Of premature deaths in the US?

Back 86

Smoking

Front 87

incidence of smoking in women? men?

Back 87

increase in women
decrease in men

Front 88

how can nicotine intake be monitored?

Back 88

plasma level of COTININE

Front 89

MC genetic defect in smoking-induced cancers?

Back 89

inactivation of p53 suppressor gene by point mutation on chromosome 17

Front 90

Smoking is the leading cause of some cancers. what cancers are they?

Back 90

Squamous, small cell, adenocarc. of lung
oral pharyngeal, larynx, mid-esophagus squamous cx
pancreatic adenocarcinoma
transitional cell carcinoma
renal adenocarcinoma

Front 91

Smoking assoc. with mesothelioma?

Back 91

NO, there is no association

Front 92

smoking effect on PUD?

Back 92

smoking delays the rate of ulcer healing and increases your risk of GI cancers. advise pt. with PUD to quit smoking

Front 93

how does smoking cause osteoporosis?

Back 93

greater conversion of estrone into inactive metabolite---leading to low estriol levels--- increase risk of osteoporosis and early menopause

Front 94

vitamin defcy in smokers?

Back 94

vitamin C

Front 95

Drugs assoc. with pulmonary fibrosis?

Back 95

Amiodarone
Bleomycin
Busulfan
Cyclophosphamide
Nitrofurantoin
Nitrosurea
Methysergide
Methotrexate
Procarbazine

Front 96

automobile mechanic exposure?

Back 96

Carbon monoxide

Front 97

pesticide exposure?

Back 97

organophosphates
arsenic

Front 98

meat packing exposure?

Back 98

polyvinyl chloride (risk of hepatic angiosarcoma)

Front 99

insulation, roofing, demolition exposure?

Back 99

asbestos
formaldehyde

Front 100

dry cleaning exposure?

Back 100

carbon tetrachloride (liver necrosis due to free radicals)

Front 101

rubber/chemical industry exposure?

Back 101

benzene (anaplastic anemia, leukemia)

Front 102

aniline dye exposure?

Back 102

bladder cancer

Front 103

battery, smelter, plumber/foundry exposure?

Back 103

lead poisoning

Front 104

painter exposure?

Back 104

methylene chloride (converted to CO)

Front 105

sewer worker exposure?

Back 105

hydrogen sulfide gas (sulfhemoglobinemia)

Front 106

isopropyl alcohol (rubbing alcohol) poisoning?

Back 106

metabolic end product is ACETONE in the liver, deep coma with hyporeflexia

Front 107

methyl alcohol poisoning?

Back 107

Woods alcohol.
increased anion gap metabolic acidosis (converted to formic acid)
optic neuritis---blindness
trx: IV ethanol (competitive antag. for aldehyde dehydrogenase)

Front 108

ethylene glycol (antifreeze) poisoning?

Back 108

increased metabolic acidosis (converted to oxalic acid)
renal failure from calcium oxalate crystals
Trx: IV ethanol

Front 109

Mercury poisoning?

Back 109

Dental Amalgrams (in hat making), fungicides, contaminated fish.
clinical- diarrhea, ATN of proximal tubules, neuron loss, constricted visual feilds
Trx- dimercaprol
visible on xray

Front 110

arsenic poisoning?

Back 110

animal dips, pesticides, fowlers solution, trx of syphillis in 1930s
clinical-garlic odor breath, rice water diarrhea, arsenic melanosis, squamous cell carcinoma of skin and lungs, nails with transverse bands (mee's nails), coma, convulsions, ATN, liver angiosarcoma
trx: Dimercaprol

Front 111

Mushroom poisoning?

Back 111

inhibits RNA polymerase
bloody diarrhea, jaundice, extensive fatty change

Front 112

Petroleum product disorder?

Back 112

euphoria when inhaled/ingested
addicting
convulsions, tinnitus, non-cardio Pulmonary edema

Front 113

MC poisonous snake bites?

Back 113

Pit Vipers

Front 114

kid staring into space with broken bones?

Back 114

Absence seizures

Front 115

dock worker with lung mass?

Back 115

asbestos exposure---lung cancer

Front 116

Belly full of scars?

Back 116

acute intermittent porphyria

Front 117

uroporphyrinogen synthase defcy?

Back 117

acute intermittent porphyria

Front 118

flame hemorrhages in the retina?

Back 118

Hypertensive retinopathy

Front 119

craniopharyngioma visual defect?

Back 119

bitemporal hemianopsia

Front 120

Cavitary lesion in Upper lobe. what is your differential?

Back 120

reactivation TB (MCC)
histoplasmosis
klebsiella pneumonia
squamous carcinoma

Front 121

pt with Marfans and diastolic murmur?

Back 121

Aortic regurgitation---stretching of aortic valve by the dissection

Front 122

x ray finding with a mass in the metaphysis with invasion into surrounding muscle, Codman's triangle?

Back 122

Osteogenic sarcoma

Front 123

Onion skinning around bone shaft seen on Xray?

Back 123

Ewing's sarcoma

Front 124

APL (M3) trx?

Back 124

Retinoic Acid

Front 125

t; 15:17 translocation, lots of Auer rods?

Back 125

APL

Front 126

thumb adducts into palm when taking BP?

Back 126

Trousseau's sign

Front 127

Why do eldery patients not develop hemolytic transfusion rxn when given the wrong ABO blood group?

Back 127

elderly pts lose isohemagglutinins with age, so none to attack ABO antigens

Front 128

vegetable mister in grocery store, what bug?

Back 128

Legionella

Front 129

Malabsorption with blunt villi?

Back 129

Celiac Dx

Front 130

brain surgery with instrutment treated with formaldehyde?

Back 130

Prion dx

Front 131

Bronze diabetes?

Back 131

hemachromatosis

Front 132

40 year old man with dementia and senile plaques?

Back 132

Down syndrome pt. with alzheimers

Front 133

Easy bruising in hospitalized patient on antibiotics?

Back 133

vitamin k defcy

Front 134

pancreatic tumor assoc. with peptic ulcers?

Back 134

ZE syndrome with secretion of gastrin

Front 135

site of acetimenophen toxicity in liver?

Back 135

terminal hepatic venule (centrilobular) least amount of oxygen in the site (zone 3)

Front 136

ex. of what would produce a left-sided variocele?

Back 136

left renal vein blocked

Front 137

injury to the head with polyuria?

Back 137

central DI from destruction of pituitary stalk

Front 138

Where are B cells in lymph node?

Back 138

follicles

Front 139

where are T cells in lymph node?

Back 139

paracortex

Front 140

where are histiocytes found in the lymph node?

Back 140

sinuses

Front 141

Staghorn calculi is made up of _____________.

Back 141

magnesium ammonium phosphate===ureas uropathogen Proteus mirabilis

Front 142

possible cause of acute respiratory acidosis?

Back 142

Barbituate OD

Front 143

Eye effect in Cushings syndrome?

Back 143

cataracts from increased glucocorticoids

Front 144

What makes a laboratory test more specific?

Back 144

raise the upper limit, increases specificty and PPV

Front 145

finding at autopsy of RDS?

Back 145

hyaline membranes with massive atelectasis

Front 146

breast fed baby is circumsized and won't stop bleeding. why?

Back 146

there is no vitamin K in breast milk

Front 147

abetalipoproteinemia?

Back 147

absence of apoB leads to low cholesterol levels
malabsorption
low levels of all lipid fractions
blindness, hemolytic anemia
trx: vitamin E

Front 148

chest palpitations when anxious?

Back 148

MVP

Front 149

MVP is due to .....

Back 149

myomatous degen. due to an increase in dermatan sulfate

Front 150

What is the valve abnormality?
hemolytic anemia with schitotocytes
syncope with exercise
angina with exercise

Back 150

aortic stenosis

Front 151

What vessel/chamber has the highest SaO2 in TOF?

Back 151

pulmonary vein/LA

Front 152

cardioprotective shunts in TOF?

Back 152

PDA
ASD

Front 153

swelling on dorsum of hand of a baby girl?

Back 153

Turners