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Flashcards in General Deck (253):
1

Why does carcinoid syndrome only occur after the carcinoid tumor has metastasized?

When localized to the GI system, the vasoactive substances released from the tumor are metabolized by the liver via the first pass effect.
When metastasized to the liver, the vasoactive substances produced enter directly into the systemic circulation resulting in the various symptoms.

2

Which hepatitis is able to integrate into the host genome and why?

Hepatitis B:
-DNA virus
-contains a reverse transcritpase
-integrates itself into the host genome and can remain latent in cells

3

How does therapeutic ionizing radiation work? (2 methods)

-Double stranded DNA breaks
-Free radical formation (ROS) that cause damage to cells and DNA

4

What does the HIV Env gene encode =

gp160 -> gp120 + gp41
mutations indicate that the HIV virus is resistant to certain anti-retroviral drugs

5

What does the HIV Pol gene encode =

reverse transcriptase, integrase, protease

mutations indicate that the HIV virus has developed resistance to anti-retroviral drugs (NNRTI, NRTI, protease inhibitors, integrase inhibitors)

6

What LN?
-skin from the umbilicus downwards,
-distal anus (below the pectinate line)
-distal vagina
-vulva
-scrotum

superficial inguinal nodes

7

Mechanism of warfarin induced skin necrosis?

Decreased production of protein C -> prothrombotic state -> increased thromboses in skin vessels -> ischemia -> necrosis

8

adult + pseudopallisading necrosis in the brain + intracranial mass =

Glioblastoma multiforme

Most common primary brain neoplasm in adults.

9

most commonly injured organ in "blunt abdominal trauma"

spleen rupture

10

proliferation fraction (Ki-67) indicates

mitotic index

11

What type of liver injury occurs with carbon tetrachloride exposure?

lipid peroxidation -> fatty change with hepatic necrosis

12

What does heterochromatin consist of? And what does it's presence indicate about that piece of DNA?

-methylated DNA
-deacylated histones

if DNA is in this structure, it indicates there is a low transcription level.

13

Hypertrophy

increase in size

14

Hyperplasia

increase in number

15

Cyanosis + Chocolate colored blood + Decreased SaO2 + Normal PaO2

Methemoglobinemia (Fe2+ is oxidized to Fe3+ which cannot bind oxygen)

16

Hallmark of reversible cell injury

cellular swelling

17

Hallmark of irreversible cell injury

membrane damage

18

AL amyloid (Ig Light chain) =

primary systemic amyloidosis

19

AA amyloid (serum amyloid associated protein)

secondary systemic amyloidosis

20

non-mutated transthyretin =

senile cardiac amyloidosis

21

mutated transthyretin =

familiar amyloid cardiomyopathy -> restrictive cardiomyopathy

22

"tumor cells in an amyloid background" =

medullary carcinoma of the thyroid

23

beta-2 microglobulin deposition in joints =

dialysis-associated amyloidosis

24

Pain mediators = (2)

-Bradykinin
-PGE2

25

Neutrophil rolling is mediated via =

on endothelial cells =
-P selectin - from Weinel-Palade bodies mediated by histamine
-E selectin - induced by TNF and IL-1

on leukocytes =
-sialyl Lewis X

26

Neutrophil adhesion is mediated via =

on endothelial cells =
-ICAM and VCAM - induced by TNF and IL-1

on leukocytes =
-integrins - induced by C5a, LTB4

27

SCCID=

Selectins and Carbohydrates
Chemokines
Integrins
Diapodesis

28

1 gram of protein = ? Calories

4 Calories

29

Where on tRNA does the AA attach?

The 3' end on the CCA tail

30

(CGG)n =

Fragile X Syndrome

31

(GAA)n =

Freidrich ataxia

32

(CAG)n =

Huntington Disease

33

(CTG)n =

Myotonic Dystrophy

34

Which creatine kinase is most specific for an MI
-CK-MM
-CK-MB
-CK-BB

CK-MB - only found in cardiac tissues

35

"cherry red mucous membranes"

carboxyhemoglobin accumulation

36

High Km = ? affinity

High Km = Low affinity

inverse relationship

37

Is DNA positively charged or negatively charged?

Negatively charged

38

Which nucleotides on the template strand are methylated in DNA replication? (2)

-Cytosine
-Adenine

39

Which nucleotide has a methyl group?

Thymine

THYmine = meTHYl

40

Which AA are needed for purine synthesis? (3)

-Glycine
-Aspartate
-Glutamine

41

Child who is Hyperuricemic + has Gout + is Pissed off all the time + Retarded + dysTonic =

Lesch-Nyhan syndrome

HGPRT = enzyme deficiency
HGPRT = symptoms

42

DNA topoisomerase VS Helicase

DNA topoisomerase = breaks the DNA double helix to relax the supercoils

Helicase = unwinds the DNA at the replication fork

43

Where is heme synthesized?

partly in mitochrondria and partly in the cytosol

44

Stop codons (3)

-UAA
-UAG
-UGA

45

2,3-bisphosphoglycerate does what to hemoglobin-oxygen relationship?

23BPG stabilizes the taut Hgb configuration therefore decreasing Hgb's affinity for oxygen and making it easier for the oxygen to be delivered to the tissues.

increased 23BPG = O2 release off of Hgb = right shift = anoxia (decrease in oxygen on Hgb)

46

Is phosphorylated-glycogen synthase active? Or is de-phosphorylated-glycogen synthase active?

De-phosphorylated glycogen synthase is the active form.

Insulin -> Insulin R (tyrosine kinase R) on hepatocyte -> phosphorylation of Insulin R Substrate-I (IRS-1) -> (+)MAP Kinase pathway and (+)PI3K pathway

PI3K pathway = (+) protein phosphatase -> dephosphorylates glycogen synthase -> active glycogen synthase makes glycogen!

47

Cofactors for BCalphaKADH, PDH, and alpha-KGDH (5)

-thiamine pyrophosphate (B1)
-FAD (B2 - riboflavin)
-NAD (B3 - niacin)
-CoA (B5 - pantothenic acid)
-lipoate

48

Prokaryotic DNA Polymerase III actions (2)

-5'->3' DNA synthesis
-3'->5' exonuclease activity (proof reading)

49

Prokaryotic DNA Polymerase I actions (3)

-5'->3' DNA synthesis
-3'->5' exonuclease activity (proof reading)
-5'->3' exonuclease activity (removing primer)

50

Prokaryotic DNA Polymerase II actions (1)

-3'->5' exonuclease activity (proof reading)

51

Northern blot is used to identify =

Type of probe used for Northern Blot technique =

specific RNA sequences

SS-DNA or SS-RNA

52

Southern blot is used to identify =

Type of probe used for Southern Blot technique =

specific DNA sequences

SS-DNA or SS-RNA

53

Western blot is used to identify =

Type of probe used for Western Blot technique =

proteins/antibodies

Antibody

54

Type of probe used for Southwestern Blot technique =

DS-DNA

55

uracil is found in DNA/RNA/Both?

RNA only

56

amatatoxins (found in poisonous mushrooms) inhibits what?

Eukaryotic RNA polymerase II -> decreases production of mRNA

57

Eukaryotic RNA polyermase I makes =

rRNA

58

Eukaryotic RNA polymerase II makes =

mRNA

59

Eukaryotic RNA polymerase III makes =

tRNA

60

Priority of surrogates (5)

spouse > adult children > parents > adult siblings > other relatives

61

APGAR Scores
Total =

Appearance, Pulse, Grimmace, Activity, Respiration

Total = 10 points (0,1,2 for each)

62

When are APGAR scores taken?

1 minute after birth
5 minutes after birth

63

Sensitivity =

a/(a+c)

64

Specificity =

d/(b+d)

65

PPV =

a/(a+b)

66

NPV =

d/(c+d)

67

95% CI =

mean +/- 1.96 SD/sqroot n

68

99% CI =

mean +/- 2.58 SD/sqroot n

69

_ is used to compare the exposure of people with the diseases to exposure of people without the disease

Odds Ratio - case control studies

70

68/95/99 rule of normal distribution

Under a normal distribution bell curve:
68% = 1 st dev
95% = 2 st dev
99% = 3 st dev

71

Competitive inhibitor (reversible) - what happens to Vmax and Km

-Vmax stays
-Km increases (therefor affinity decreases)

72

Noncompetitive inhibitor - what happens to Vmax and Km

-Vmax decreases
-Km stays

73

What order kinetics are Phenytoin, Ethanol, and Aspirin?

PEA = 0 = Zero order kinetics

74

reduction, oxidation, hydrolysis = what stage of metabolism?

Stage I

produces slightly polar, water soluble metabolites (still active)

75

What is Stage II of metabolism?

congugation (glucoronidation, acetylation, sulfation)

produces polar, inactive metabolites that are then excreted via the kidneys

76

Elderly patients rely on metabolism Stage I/II/both

II only

77

Organophosphate Poisoning

DUMBBELSS - Ach overload
Diarrhea
Urination
Miosis
Bronchospasm
Bradycardia
Excitation of CNS and muscles
Lacrimation
Salivation
Sweating

78

What is the single most preventable cause of death?

Tobacco use

79

Probability of concluding there is no difference when there really is one =

Beta (Type II error)

80

Probability of concluding there is a difference when there really isn't one =

Alpha (Type I error)

81

Treatment for a young sexually active person with STI type symptoms =

Treat for N gonococci and C trachomonous

Ceftriaxone (cefalosporin)
Azithromycin (macrolide) OR Doxycycline (tetracycline)

82

Epithelium of
-true vocal cords
-false vocal cords

-true vocal cords = stratified squamous ep
-false vocal cords = ciliated pseudostratified columnar ep

83

Clinical trials phases:
Phase I=
Phase II=
Phase III=
Phase IV=

Phase I = small number of healthy volunteers

Phase II = small number of patients with disease of interest

Phase III = Large number of patients randomly assigned to treatment or best available treatment (or placebo)

Phase IV = Post-marketing surveillance of patients. Drug is already approved.

84

Partial thromboplastin time =

PTT

85

Amyloid structure

beta-pleated sheets

86

Cardiomegaly + individual myofiber necrosis with mixed inflammatory infiltrate + travel to South America

T. cruzi

87

Gluconeogenesis locations (3)

Liver
Kidney
Intestinal epithelium

88

Why do some vaccines have the antigen conjugated with a carrier protein?

3 examples

The main antigen of encapsulated bacteria are their polysaccharide capsules. These polysaccharide antigens cannot be presented to T cells alone. They are conjugated with a carrier protein thereby enhancing their immunogenicity and activating T-cells

Examples:
- Pneumococcal (PCV) (the other pneumococcal vaccine (PPSV) is not conjugated with anything, therefore less effective)
- H. influenzae type B (conjugated with diphtheria toxoid)
- Meningococcal vaccine

89

Nerve that travels in the mandible

inferior alveolar nerve

90

Age (months) of standing alone with no support

10 months

91

Age (months) of first steps/cruising

12 months

92

Age (months) of parallel play

24-36 months

93

Age (months) of climbing stairs

18 months

94

Age (months) of drawing

4 years

95

Multiple seizures, pins and needles around mouth and hands and feet, random spasms leading to flexion of wrists, diffuse hyperreflexia - what serum electrolyte abnormality?

low calcium

96

Dermatome at the umbilicus

T10

BellybutTEN

97

Acute phase cytokines that are released during inflammation/help precipitate inflammation (3)

IL-1
IL-6
Tumor necrosis factor-alpha

98

In DIC is fibrinogen high or low

Fibrinogen is low because it is all used up in the clots

99

Function of TGF-beta in wound healing

Stimulates angiogenesis, fibrosis, cell cycle arrest
Inhibits inflammation

100

What stains blue on a Prussian blue stain?

Intracellular iron

Lipofuscin doesn't stain

101

Branches of the external carotid artery (3)

External carotid ->
-Facial artery
-Occipital artery
-Maxillary artery

102

Injury of what cells release creatine kinase?

Cardiac, Brain, Skeletal muscle cells

103

What type of damage results in increased serum creatine kinase?

membrane damage, irreversible cell injury

104

Mechanism of ischemic cell swelling?

Ion pump failure due to lack of ATP -> intracellular accumulation of Na and Ca -> draws water into the cell -> swelling

105

Intercostal vein, nerve and artery lie in the subcostal groove on the upper/lower border of the rib?

Lower

That is why you insert chest tubes/needles on the upper border of the rib

106

Where do these things bifurcate?
-Common carotid
-Trachea
-Abdominal aorta

-Common carotid = C4
-Trachea = T4
-Abdominal aorta = L4

biFOURcates

107

55 yo man + yellow sputum + poor dentition with G carries and gingivitis + alcohol abuse + lung consolidation

Actinomyces with sulfur granules

108

Multiple telangiectasias in skin and mucous membranes + recurrent bleeds + skin discoloration + AD inheritance

Osler Weber Rendeu Syndrome

(Hereditary Hemorrhagic Telangiectasia)

109

Port wine stain on V1/V2 distribution + tram track calcification in the brain + intellectual disability + glaucoma + cerebral malformations =

Sturge Webber Syndrome (Encephalotrigeminal Angiomatosis)

cerebral malformations = leptomeningial angiomas

110

Hammartomas in CNS and skin + Cardiac rhambdomyomas + cutaneous angiofibromas + renal angiomyolipomas =

lots of tumors everywhere in a child

Tuberous Sclerosis

Cardiac rhabdomyomas = the only childhood heart tumor

111

Dopamine
low dose ->
medium dose ->
high dose ->

Low dose -> D1 = kidneys - increased GFR, increased RBF, increased sodium excretion

Medium dose -> beta1 = increased contractility, increased PP, increased systolic BP

High dose -> alpha1 = generalized systemic vasoconstriction

112

_ is given to prevent ischemic stroke in patients with TIA

low dose aspirin

113

Splinter hemorrhages suggest a problem with _

Cardiac/valve problem - infectious endocarditis

114

Congenital long QT syndrome is caused by a mutation in

ion channels (usually K channels)

115

Thromboxane A2 function (2)

-enhances platelet aggregation
-vasoconstriction

116

Prostacyclin function (5)

-inhibits platelet aggregation
-inhibits platelet adhesion to vascular endothelium
-vasodilation
-increases vascular permeability
-promotes leukocyte chemotaxis

117

Child + palpable purpura on buttocks and legs + GI issues + arthralgias + hematria =

Henoch-Schonlein Purpura

type of vasculitis

118

S3 =

volume overload

119

S4 =

pressure overload

120

chronic sinopulmonary infection + bilateral absent vas deferens =

Cystic fibrosis

Symptoms seem similar to Kartageer syndrome but the infertility here is due to a lack of a structure NOT a cilia issue

121

testicle lymph drainage ->

para-aortic LN

122

Scrotum lymph drainage ->

superficial inguinal LN

123

bug that is PYR positive

Strep pyogenes

124

L sided chest discomfort + burning pain + rash over the area that becomes vesicular =

Shingles - VZV reaction

125

Immunodeficiency disorder with partial albinism + giant cytoplasmic granules in neutrophils and monocytes + diagnosed in childhood =

Chediak-Higashi Syndrome

Inhibition of lysosomal trafficking -> microtubule dysfunction

lysosomal trafficking regular gene (LYST)

126

Started on a new drug, 10 days later the patient develops a rash, fever and joint pain. biopsy shows fibrinoid necrosis + neutrophilic infiltrate =

Serum sickness drug reaction - type III hypersensitivity

127

fever and muscle rigidity soon after surgery + cyanotic skin mottling + hypertension

Malignant hyperthermia

treatment = dantrolene - inhibits Ca release from Sarcoplasmic reticulum

128

NT inhibited in tetanus infection =

-GABA
-Glycine

129

Deficiency of Hypocretin-1 (Orexin-A) in CSF indicates =

Narcolepsy

hypocretin/orexin is produced in neurons in the hypothalamus

130

Dynein vs Kinesin

Dynein = retrograde transport down an axon

Kinesin = anterograde transport down an axon

131

Direct angiogenesis stimulators (2)

-VEGF
-FGF-2

132

BRCA gene function =

DNA repair gene

133

HER2 =

"human epidermal growth factor receptor 2"

tyrosine kinase

134

What 3 diseases drastically increase the risk for CAD related deaths?

-Non-coronary atherosclerosis
-Type 2 DM
-Chronic kidney disease

135

Acute hemolytic transfusion reaction is what type of hypersensitivity?

Type II hypersensitivity reaction - complement mediated cell lysis

136

Adult Polycystic Kidney Disease is associated with _ hemorrhage

Subarachnoid hemorrhage from a berry aneurysm

137

Anopheles mosquito

-Malaria

138

Aedes mosquito

-Dengue fever
-Chikungunya
-Yellow fever

139

“Ability to decompose hydrogen peroxide” =

Catalase positive

Contains the myeloperoxidase enzyme

140

“Possession of cytochrome oxidase” =

Oxidase positive

141

“Epithelial cells covered in gram variable rods”=

Gardnerella vaginalis - clue cells

142

“Multiple, painful, shallow ulcers on an erythematous base located on the labia + bilateral inguinal lymphadenopathy” =

HSV-2

143

What type of response is eosinophils attacking parasites?

Antibody Dependent Cell Mediated Cytotoxicity (ADCC)

Type II hypersensitivity

1) parasite invades
2) parasite coated with IgG and IgE
3) IgE binds to Fc receptor located on eosinophils
4) eosinophils degranulate and kill parasite

144

Compliment C1 deficiency predisposes to (2)

-Infection with encapsulated bacteria
-SLE

145

Defect in IL-2 =

SCID = opportunistic infections + diarrhea + failure to thrive

146

Defect in IL-12 R =

T cell disorder: decreased number of Th1 cells mature -> decreased amount of IFN-gamma released -> decreased amount of activated macrophages -> susceptible to mycobacterial infections

147

“Dysfunctional immunoglobulin gene rearrangement”

Hyper-IgM syndrome
-defective CD40L on Th cells therefore cannot class switch
-X linked recessive

148

Cytokine that mainly functions to support growth and differentiation of bone marrow stem cells?

IL-3 - secreted by all T cells

149

Nitroblue Tetrazolium (NBT) Test shows no color/no blue. Dihydrorhodamine (DHR) flow cytometry test shows no green fluorescence. What is the enzyme deficiency?

NADPH oxidase deficiency -> chronic granulomatous disease

If it was a myeloperoxidase deficiency, both of those tests would be opposite. NBT test would show blue coloration. DHR flow cytometry would show green fluorescence.

150

3 cytokines that mediate the systemic inflammatory response

-IL-1
-IL-6
-TNF-alpha

They all stimulate hepatic secretion of acute phase proteins

151

alpha and beta interferon
-secreted from?
-action?

secreted from:
-virally infected cells

actions: interact with neighboring virally infected cells and synthesize enzymes that halt viral protein synthesis and stimulate infected-cell apoptosis

152

How are herpes virus family envelopes different from other viral envelopes?

Obtained from host cell nuclear membranes instead of host cell plasma membranes

153

What is the toxic component of gram negative LPS?

Lipid A

154

8 yo boy + rapid and irregular movements of hands + unintentional “funny faces” + 102 degrees F + circular erythematous lesions on abdomen + new systolic murmur

Acute rheumatic fever post-streptococcal pharyngitis

JONES Criteria:
-Joins
-Carditis/murmur
-Nodules - subcutaneous
-Erythema marginatum
-Sydenham chorea

155

4 yo boy + fever + painful ulcers on tongue and gingiva + swollen gums + cervical lymphadenopathy

HSV-1

156

Increased work of breathing + wheezes/crackles/rales + rhinorrhea + congestion + 1 month old

RSV bronchiolitis

157

What vitamin deficiency can increase measles complications?

vitamin A

158

_a_ are important in preventing superficial candida infections
_b_ are important in preventing hematogenous spread of candida

a = T lymphocytes (T helper cells specifically)

b = neutrophils

159

What sjogren syndrome antibody has the ability to cross the placenta and cause neonatal lupus and congenital heart block?

SS-A antibody

160

Absence of CD18 =

Leukocyte adhesion deficiency

Unable to make integrins, therefore leukocytes/neutrophils cannot leave the blood

161

Patient's serum + cardiolipin + lecithin + cholesterol

Nonspecific treponemal test/RPR test

Looking for coagulation -> positive
Then do antibody specific test

162

Polygenic inheritance (7)

-Androgenic alopecia
-Epilepsy
-Glaucoma
-HTN
-Ischemic HD
-Schizophrenia
-Type II DM

163

Antibody against proteinase-3 of neutrophils

Granulomatosis with polyangitis

c-ANCA

164

Antibody against myeloperoxidase of neutrophils

Microscopic polyangitis or Eosinophilic granulomatosis with polyagnitis

p-ANCA

165

Introns vs Exons - which ones stay and which ones go?

Introns are removed

Exons are joined together and are translated

166

Spliceosomes remove introns containing _ _ @ the 5’ splice site and _ _ @ the 3’ splice site

5' = G U

3' = A G

167

CD16 or CD56 =

NK cells

168

What 5 cytokines activate NK cells?

-IFN-gamma
-IL-12
-IL-2
-IFN-alpha and beta (from virally-infected cells)

169

What type of receptors contain zinc fingers?

Intracellular receptors
Bind: steroids, thyroid hormone (T4/T3), fat soluble vitamins

The zinc finger part is the DNA binding domain

170

Where do repressor proteins bind?

Operator region

171

P27 has what action?

Cell cycle inhibitor
-Normal cells have high levels of p27
-Malignant cells have low levels of p27

172

Active Rb - hyperphosphorylated or hypophosphorylated?

Hypophosphorylated = Active
-Active -> binds to E2F transcription factor -> inhibits transcription of genes required to move from G1 to S -> stops the cell cycle

Inactive (Hyperphosphorylated) -> releases E2F transcription factor -> cells can continue from G1 to S without being checked

173

O2 -a-> O2 free radical -b-> H2O2 -c-> HOCl

a = NADPH oxidase
b = superoxide dismutase
c = myeloperoxidase

174

CD 14 or CD 40

Macrophages cell surface marker

175

Anergy

State during which a cell cannot be activated by exposure to its antigen. Mechanism of self tolerance.

Ex: T and B cells become anergic when exposed to their antigen without the appropriate costimulatory signal.

176

P-glycoprotein action?

pumps out toxins, including chemotherapeutic drugs
-ATP-dependent transporter
-often seen in adrenal cell carcinomas
-also called multidrug resistance protein 1 (MDR1)

177

CA 15-3/CA 27-29 = markers for?

Breast cancer

178

Caspase actions

Proteolytic enzyme that cleaves cellular proteins
Important in apoptosis

179

What class of MHC presents endogenous antigens to T cells?

MHC I

180

What class of MHC present exogenous antigens to T cells?

MHC II

181

After exposure to these toxins/viruses, IVIG should be given (5)

-Tetanus toxin
-Botulinum toxin
-HBV
-Varicella
-Rabies

182

Metastatic calcification locations?

-Kidney
-Lungs
-Gastric mucosa

The low pH in these environments favors calcium deposition

183

Carcinoma exceptions to the lymphatic spreading rule: (4)

-Renal cell carcinoma
-Hepatocellular carcinoma
-Follicular carcinoma of the thyroid
-Choriocarcinoma

These carcinomas spread via the blood instead of the “rule” that all carcinomas spread via lymphatics

184

Hyperkeratotic vesicles on palms and soles + reactive arthritis

Blennorrhagicum
The important distinguishing feature from other rashes on palms and soles is that these are vesicular

185

Eosinophilic casts (2)

Multiple myeloma
Chronic pyelonephritis

186

What happens when a stop codon is encountered in the ribosome?

Releasing factor proteins bind to the ribosome to facilitate release

187

Granulomas require what 3 cytokines?

IL12
IFN gamma
TNF alpha

188

Basophilic oval inclusions in mature neutrophils + increased LAP

Dohle bodies seen in neutrophils during a leukemoid reaction

189

Genetics of classic galactosemia?

AR
Deficiency of Galactose 1 phosphate uridyl transferase

190

Genetics of Hemophilia A, B, C?

A and B = X linked recessive
A = factor VIII deficiency
B = Factor IX deficiency

C = AR
C = Factor XI deficiency

191

Genetics of Huntington’s disease

AD
CAG repeat
Anticipation more common if inherited from father

192

Genetics of Leber Hereditary Optic Neuropathy

mitochondrial

193

Order of mutations in colonic adenoma-carcinoma sequence (1, 2, 3)

1 = APC - loss of function, tumor suppressor gene
2 = KRAS - gain of function, oncogene
3 = p53, DCC - loss of function, tumor suppressor gene

194

Homeobox genes encode what proteins?

DNA binding transcription factors
Bind to regulatory regions on DNA and alter expression of genes involved in segmental organization of the fetus

195

Genetics of hypertrophic cardiomyopathy?

AD with variable expression
50% of cases are familial

196

Young boy with depression, gait disturbances, dysarthria, elevated transaminases. Cousin diagnosed with progressive neurologic disease.

Wilson’s disease
-AR

197

Myopia

Increased axial length of the eye - image focuses in front of the retina

198

Most common predisposing condition for infective endocarditis in the developed world?

Mitral valve prolapse
Less common: valvular sclerosis, mechanical valve

199

46, XX t(14;21) in a newborn infant

Unbalanced robertsonian translocation Down Syndrome

Balanced translocations would not be symptomatic

200

13 yo boy, growth retardation, microcephaly, sun sensitive skin rash, recurrent infections, child of consanguineous marriage

Bloom Syndrome
-AR
-Mutation in BLM gene - DNA helicase does not form

201

Salicylate poisoning - which process comes first?

1) respiratory alkalosis
2) anion gap metabolic acidosis
Usually, the pH is close to normal

202

Prostatectomy can injure what nerve? What is the consequence?

Can transect the prostatic plexus
Contains the cavernous nerves that innervate the cavernous sinus. Without it, no penil erection

203

Micrognathia =

Hypoplasia of the mandible

204

Cytochrome oxidase =

Final component of the ETC
Turns O2 -> H2O

205

Cricothyrotomy incision passes through what 4 layers?

Skin
Superficial cervical fascia (includes subcutaneous fat and platysma muscle)
Deep cervical fascia (includes investing layer and paratracheal layers)
Cricothyroid membrane

206

Bilateral kidney tumors composed of fat, smooth muscle, and blood vessels? These are associated with?

Angiomyolipomas
-Diagnostic for Tuberous Sclerosis
-AD

207

Multiple phenotypic manifestations resulting from a single genetic mutation

Pleiotropy

Occurs in most genetic illnesses

208

Lacunar infarcts in the deep brain are caused by

Hypertensive arteriolosclerosis

Immediate CT imaging does not show the infarct because it is so small
A few weeks later, the necrotic tissue becomes a cystic space and can now be seen

209

Increased 5-hydroxyindoleacetic acid is an indicator of?

Increased serotonin

Elevated in carcinoid syndrome

210

Anaphylaxis results in increase in what 2 things

Histamine and Tryptase (specific for mast cell degranulation)

Anaphylaxis occurs due to mast cell and basophil degranulation

211

CA-125 is a marker for?

Epithelial ovarian tumors

212

What factor inhibits phagocytosis of group A streptococcus?

Protein M

Main virulence factor - inhibits phagocytosis, cytotoxic to neutrophils, mediator of bacterial attachment

213

Indole positive =

Can turn tryptophan into indole

214

Is pseudomonas motile

Yes - motile
Oxidase positive
Catalase positive
Non-lactose fermenting
Aerobic
Encapsulated
Type III secretion system

main virulence factor = Exotoxin A (ribosylates EF2), endotoxin (because its gram negative), phospholipase C, pyocyanin

215

How does CMV present in an immunocompetent person

Mononucleosis-like syndrome

Fever, malaise, myalgias, atypical lymphocytosis, elevated liver transaminases

Monospot negative (no heterophile antibodies)

216

Erythematous throat + gray-white tonsillar exudate + fever + chills + diffuse erythematous rash on chest and abdomen that blanches with pressure + tongue is bright red

Scarlet fever
-“Sandpaper rash”
-“Strawberry tongue”

Sequelae = acute rheumatic fever, glomerulonephritis

Only occurs in GAS strains that produce pyrogenic exotoxin/erythrogenic

217

The steady state concentration of a drug that is metabolized by first order kinetics is calculated how?

Half-life x 4
It takes 4-5 half-lives to get to a steady concentration

218

What is rebound rhinorrhea

Nasal congestion without a cough, post-nasal drip or sneezing

Caused by topical decongestant use for more than 3 days

Due to tachyphylaxis = decreased production of NE due to negative feedback -> vasodilation and continued nasal symptoms
Treatment = stop the decongestants

219

“Fungus spherules” =

Coccidioides

220

Main virulence factor in mycobacterium

Cord factor

Inhibits neutrophils, damages mitochondria

221

_ allows mycobacteria to persist inside of macrophages

Sulfatides

Inhibits fusion of lysosomes to phagosomes

222

Which E Coli causes bloody diarrhea?

Enterohemorrhagic E Coli (EHEC)

223

Which E Coli causes watery diarrhea?

Enterotoxigenic E Coli (ETEC)

-heat labile (LT) = increases cAMP (eL Agua)
-heat stable (ST) = increases cGMP (San Gabriel)

224

4 bacteria that can take up naked DNA from the environment

-Streptococcus
-Haemophilus
-Neisseria
-Bacillus

Transformation

DNAse - degrades naked DNA and can inhibit transformation

225

Methenamine silver stain is used to identify _

fungus

226

Window period of HBV

positive for: HBcAb and HBeAb
negative for: HBsAg and HBsAb

227

HBcAg is detectable when?

Rises before the patient becomes symptomatic and stays elevate throughout the infection (whether in window period or not)

228

What Ab should be measured to test if an infant has been infected with Toxo in utero?

IgM - first Ab produced when B cells are stimulated

IgG levels would indicate passive immunization from mother

229

What 2 things increase precision and what 1 thing decreases precision?

increases precision:
-decreased standard deviation
-increased power (1-beta)

decreases precision:
-random error

230

What 1 thing decreases accuracy?

decreases accuracy:
-systematic error

231

how to decrease the chance of making a type II error? (4)

increase power -> decreases beta

how to increase power?
-increase sample size
-increase expected effect size
-increase precision of measurement

232

Medicare is for _

-elderly (>65 yo)
-certain disabilities
-ESRD

233

Medicaid is for _

-very low income

234

Matching strategy helps overcome what bias?

Confounding bias

235

Randomization helps overcome what bias?

Selection bias

Types of selection bias:
-Berkson bias
-Healthy worker effect
-Non-response bias/Attrition bias

236

What type of bias?

A screening test preferentially identifies less aggressive forms of a disease and therefore increases the apparent survival time

Length time bias

237

Drugs with high intrinsic hepatic clearance have _ lipophilicity and _ Vd

-high lipophilicity
-high Vd

238

16 year old boy + chewing plant seeds + progressive confusion + agitation + feeling like bugs crawling on skin + trouble seeing + very thirsty =

Atropine poisoning

239

What type of mosaicism - genetic mutation is seen in offspring but not in parents

Germline mosaicism

240

Can somatic mutations be passed to offspring?

No
They are acquired/spontaneous alterations of somatic cells

241

What cell produces IL-2

Antigen stimulated T cells -> (+) stimulates growth of all lymphocytes (T, B, NK) and monocytes

242

What cells produce IL-1?

monocytes/macrophages

243

Angry at being abused a child so the person joins a rugby team where he is known for playing really hard

Sublimation

244

Chronic nasal congestion + occasional headaches + atrophic nasal mucosa + thinned nasal septum + small septal perforation + been taking oral loratadine with no help of symptoms

Nasal cocaine abuse

245

Variable phenotype in patients with the same genetic mutation. Example: Marfan syndrome, NF1

Variable expressivity

246

One genotype presents with many problems in multiple systems. Example: PKU

Pleiotropy

247

Different mutations at the same locus causing a similar phenotype. Example: beta thalassemia, Duchenne vs Becker muscular dystrophy

Allelic heterogeneity

248

Defect in intracellular messenger in a CD19 cell leading to multiple infections in an infant

Bruton agammaglobulinemia

CD19 = B cells

Defect in tyrosine kinase gene (BTK)

249

If the hydrophobic N-terminal sequence of preproinsulin is cleaved off, where would the peptide accumulate?

In the cytosol

The N-terminal sequence is what directs the preproinsulin towards the rER where it gets cleaved to proinsulin

250

Ablation of _a_ can be used to treat severe axillary hyperhidrosis.

Ablation of _b_ can be used to treat severe facial hyperhidrosis.

a=Thoracic sympathetic trunk

b=Superior cervical ganglion

Sweating is controlled via the cholinergic postganglionic sympathetic fibers

251

Cellular differentiation and dedifferentiation is controlled by _

Transcription factors

252

Sudden appearance of acanthosis nigricans + anemia =

Indicates a GI malignancy or lung malignancy

The anemia indicates blood loss, leaning towards a GI malignancy with occult blood loss

253

Hypoplastic first digits + mullerian fusion abnormalities + genetic

Hand-foot-genital syndrome
-AD
-Mutated HOXA13 gene