Barone Notes Flashcards

1
Q

H63D

Result?

Other one?

A

HFE

Decreased hepcidin –> increased ferroportin

C282Y

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2
Q

Kinyoun stain

Other name?

A

Acid fast

Ziehl-Neelson

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3
Q

G551D

How to remember?

Other one?

A

Cystic fibrosis

Gets to membrane, but Defective

F508

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4
Q

Treatment for measles

A

Vitamin A (immune maturation)

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5
Q

Increased AChE

Other one?

A

Neural tube defect

Increased AFP

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6
Q

A tumor with increased LDH = ?

A

High turnover = HIGH GRADE

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7
Q

1st enzyme finding in an MI

A

Myoglobin

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8
Q

Retinoblastoma…fxn?

How to turn off?

A

Bind EF2 and prevent S phase

PHOSPHORYLATE by CDKs

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9
Q

2 functions of P53

A

Turn off CDKs

Dephosphorylate RB

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10
Q

BRCA1 in man

BRCA1 function

A

Prostate cancer

DNA strand break repair

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11
Q

ATM function

A

Senses DNA damage

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12
Q

How to start the intrinsic apoptosis pathway

A

Increased P53 (b/c too much damage) –> increased BAX –> mitochondrial pore

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13
Q

No thymic shadow

A

DiGeorge

SCID

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14
Q

Muscle atrophy…which component gets smaller?

Muscle contraction…which component gets smaller?

A

MyoFIBER

MyoFIBRIL

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15
Q

PTEN mutation

A

Prostate
Thyroid
ENdometrioid carcinoma

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16
Q

Barrett’s esophagus…metaplasia to look like what organ?

A

INTESTINE (NOT stomach)

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17
Q

Condyloma…how to tell the difference from gross

A
Accuminatum = bumpy/papillary
Lata = flat
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18
Q

HPV 1-4

A

Plantar wart (“1-4 from the floor”)

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19
Q

Red lesion on vulva + PAS positive

A

Extramammary Paget’s (mucin = PAS positive)

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20
Q

HMB-45

A

Melanoma (Human Melanoma Black)

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21
Q

BRAF (4)

A

Melanoma
Langerhan Cell Histiocytosis
Hairy cell leukemia
Papillary thyroid cancer

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22
Q

Skin lesion on palms/soles/nails of dark-skin person
C-KIT positive

Treatment?
**What else is treated by this?

A

Acral lentigenous melanoma

Imatinib

GIST (C-KIT), CML (BCR-ABL)

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23
Q

P16 mutation - skin lesion

What is it?

Treatment>

A

Melanoma

Cell cycle regulator

TNF-alpha, IL-2

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24
Q

CD1A

Positive for what else?

How to remember?

A

LC Histiocytosis

S100

“RAFael nadal has TENNIS RACKET for 1 Ace w/ Serve at 100 mph”

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25
Q

Treatment for hairy cell leukemia

A

Cytarabine (the saber tiger is very hairy)

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26
Q

Psammoma bodies

A

Meningioma, Mesothelioma

Papillary thyroid, Papillary ovarian

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27
Q

Empty, clear nuclei in thyroid mass

A

Orphan Annie - Papillary thyroid CA

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28
Q

Anasarca - what is it?

A

Severe generalized edema

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29
Q

Exudate - what lab finding?

If lymphocytes?

If eosinophils?

A

High LDH

TB, viral

Type 1 HS

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30
Q

**Non-pitting edema - options

A

Myxedema (thyroid)

Lymphedema

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31
Q

**Palpable purpura

If IgA?

If IgG?

A

Small vessel vasculitis

HSP

Microscopic polyangiitis

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32
Q

Superficial bleeding
Normal platelets

Options?

A

Aspirin
Uremia
Genetic platelet disease (B-S, GT, vWF)

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33
Q

Superficial bleeding
Normal platelets
Abnormal Ristocetin

Options?

A

vWF deficiency

Bernard-Soulier

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34
Q

Superficial bleeding
Normal platelets
No aggregation with ADP or TxA2

A

Glanzmann Thrombasthenia

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35
Q

Superficial bleeding
Low platelets

Options?

A

Destruction (ITP, TTP, HUS, DIC)

Production (BM issue)

Sequestration (Spleen)

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36
Q

Chronic secondary ITP - causes (3)

A

SLE
HIV
H. pylori

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37
Q

Treatment for TTP

A

Fresh frozen plasma

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38
Q

Factors that need Calcium

How to remember?

A

2, 7, 9, 10

Same ones that need Vitamin K
Make an inverted triangle in Barone’s drawing

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39
Q

C. diff treatments (3)

A

Metronidazole
Vancomycin
Fidaxomicin

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40
Q

Alpha-RAR - what type of receptor?

ATRA - maturing promyelocytes into what?

A

Zinc finger

NEUTROPHILS

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41
Q

Bleeding from umbilical stump + normal labs

A

Factor 13 deficiency (not measured by PT/PTT)

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42
Q

Hemophilia C

A

Factor 11 deficiency

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43
Q

Factor 5 Leiden - explain

Inheritence?

A

Cannot be turned off by Protein C/S

Autosomal DOMINANT

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44
Q

Protein C/S deficiency - problem?

A

Cannot turn off Factor 5 or 8

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45
Q

Treatment for Antithrombin 3 deficiency

Why?

A

Heparin

Heparin –> increased AT3 activity

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46
Q

Heparin does NOT increase PTT…why?

A

AT3 deficiency (nephrotic syndrome)

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47
Q

Caisson disease

A

Avascular necrosis of femoral head from nitrogen bubbles (scuba diving –> ascent)

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48
Q

1 week after DVT –> clotting episode(s)

Cause?

What is released? (3)

A

Heparin-induced thrombocytopenia

Platelet factor 4 (PF4) antibodies –> bind Fc receptor on platelets and activate them

ADP, TxA2, SEROTONIN

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49
Q

HIT - treatment

A

Stop heparin
Direct thrombin inhibitor (Argatroban, -rudin, Dabigatran)
Warfarin

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50
Q

**Trisomies - commonalities (5)

A
  • Mental retardation
  • Meiosis ONE
  • 35+ y/o mom
  • Endocardial cushion defect
  • FISH or karyotype
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51
Q

Mongoloid facial features

A

Down syndrome (absent nasal bridge cartilage)

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52
Q

Increased nuchal lucency

A

Down syndrome

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53
Q

White fibrotic speckling in eyes

A

Brushfield spots (Down syndrome)

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54
Q

Baby w/ Down syndrome…cancer risk?

A

AML M7

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55
Q

Downs vs. Edwards – quad scan

A

Both - low AFP, low estrogen
Downs - high HCG, high Inhibin A
Edwards - low EVERYTHING (“E = EVERYTHING down”)

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56
Q

Cell-free fetal DNA - used for what? (2)

A

Sex of baby

Trisomies of baby

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57
Q

Horseshoe kidney + chromosomal abnormality (2)

A

Turner’s

Edwards

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58
Q

Patau syndrome features + 2 chromosome 13’s

A

SHH deletion

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59
Q

Mewing cry - disease?

Why?

Other defects?

A

Cri-du-chat (Chromosome 5p)

Hypoplasia of larynx

Cushion defect (VSD, etc.)
Microcephaly
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60
Q

Eunuchoid body habitus

A

Klinefelter’s

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61
Q

Klinefelters - cancer risks?

A

Breast

Seminoma

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62
Q

Why bad ovaries in Turner’s?

A

2nd X needed for oogenesis and ovarian development

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63
Q

Turner’s - why short?

A

SHox (stature homeobox) gene on X chromosome

64
Q

Turner’s - cancer risk?

A

Dysgerminoma

65
Q

Lysosomal storage disease + whorled membranes

A

Tay-Sachs (“GM rims are whorled”)

66
Q

Niemann-Pick - accumulation in what? (2)

A

Macrophages (organomegaly), Neurons (CNS and cherry-red spot)

67
Q

Lysosomal storage disease + fibrillary cytoplasm

Chromosome?

Accumulation in what?

A

Gaucher’s (crumpled tissue paper)

Chr. 1 (“#1 MC disease”)

Macrophages (LE system), Neurons (RARE)

68
Q

Erlenmeyer flask deformity (2)

How to distinguish?

A

Gaucher’s (lytic bone)

Osteopetrosis (dense bone)

69
Q

MPS diseases - commonalities (reason for each)

A

Chondrocytes –> short, arthritis, gargoyle deformities
Macrophages –> HSM
Fibroblasts –> carpal tunnel, valvular dz, cloudy corneas
PAS positive lysosomes – sulfates accumulate

70
Q

Hurler - enzyme

Findings?

A

Alpha-L-Iduronidase

Zebra bodies (like Niemann-Pick)

71
Q

Hunter syndrome - enzyme

Only in who?

A

Iduronate sulfatase

MEN (X-recessive)

72
Q

Anti-SSA (Ro) Ab in pregnancy

A

IgG crosses placenta –> FETAL HEART BLOCK

73
Q

Antiphospholipid syndrome - why increased PTT?

A

Lupus anticoagulant – bind to phospholipids in PTT test and cause prolonged PTT

74
Q

Prolonged russel viper venom test (RVVT)

A

Antiphospholipid Ab syndrome (same reason as PTT)

75
Q

Most common cause of recurrent spontaneous abortions

A

Balanced translocation in mom –> unbalanced in babies

76
Q

Positive VDRL - normally due to what?

Falsely positive? Why?

How to confirm APLA syndrome vs. syphilis?

A

Anti-cardiolipin antibodies

Anti-phospholipid antibodies – LOOK LIKE anti-cardiolipin

FTA-ABS negative = APLA syndrome

77
Q

Lupus - type 2 HS vs. type 3 HS symptoms

A

Type 2 = blood (H.A., low platelets, neutropenia)

Type 3 = everything else

78
Q

Sterile nodules on BOTH sides of mitral valve

A

Libman-Sacks endocarditis (SLE)

79
Q

Lupus - 2 most common types of renal disease

A
Type 4 (MC) = DPGN (wire loops, sub-endo deposits)
Type 5 = Membranous nephropathy
80
Q

Hydroxychloroquine - side effect

Commonly being used for what now?

A

Accumulation in EYE

Autoimmune diseases

81
Q

Sjogrens syndrome - often with what else?

Best place to biopsy?

A

Rheumatoid arthritis

Lip (minor salivary gland)

82
Q

Scleroderma - cytokines

A

***TGF-beta, IL-1, PDGF, FGF

83
Q

Anti-topoisomerase-1 antibodies

Organs affected? (5)

Contraindicated cancer drugs? (3)

A

Diffuse scleroderma

Lungs, heart, kidney, esophagus, GI

Bleomycin, Busulfan, Amiodarone

84
Q

Anti-U1-RNP antibodies

How to remember?

A

MCTD

“I wish U were 1 disease”

85
Q

DiGeorge - heart defects

Psych risks?

A

ToF, Truncus Arteriosus

Schizophrenia, Bipolar disease

86
Q

TBX1 gene mutation

A

Great vessels
Muscles and bones of face
Thymus and Parathyroid

87
Q

Wiskott-Aldrich - symptoms

Ig findings

Risk of what?

A

Thrombocytopenia, infections, eczema

E and A are HIGH (“Whiskey = Ethyl Alcohol”)
M is LOW (“Whiskey = Mental function decrease”)

Non-Hodgkin’s Lymphoma

88
Q

Diagnosing AIDS in baby

A

PCR

89
Q

Multinucleated giant cells + encephalopathy

A

AIDS dementia/encephalopathy (microglia)

90
Q

HIV - what binds to CD4?

What binds to CCR5/CXCR4?

A

GP120

GP41

91
Q

GP41 blocker

CCR4 blocker

A

Enfuviritide

Maraviroc

92
Q

RT nucleoside inhibitors (4)

RT non-nucleoside inhibitors (2)

A

Zidovudine, Didanosine, Lamivudine, Emtracitabine

Efavirenz, Nevirapine

93
Q

Protease inhibitors (4)

A

Idinavir, Ritonavir, Saquinavir, Nelfinavir

94
Q

Integrate inhibitor

A

Raltegravir (-“tegra”)

95
Q

Typical 3 drug HIV combo

A

2 NRTI’s + PI or NNRTI

96
Q

T-cells

A

PCP, dementia

Hemolytic anemia in G6PD deficiency (SMX, Dapsone)

97
Q

T-cells

A

Toxo, Cryptococcus, Cryptosporidium

98
Q

T-cells

A

CMV, MAC, PML

99
Q

PML presents like what disease? How different?

A

MS - but CONSTANT and PROGRESSIVE

100
Q

T-cells

A

Thrush, TB, VZV

101
Q

HIV + abundant pink hyaline in the alveoli

A

PCP pneumonia

102
Q

HIV + Esophagitis - endothelial vs epithelial cells

A
Endothelial = CMV
Epithelial = Herpes
103
Q

Periventricular calcifications in baby

Basal ganglia calcifications in baby

A

CMV (TORCHeS)

Toxo (TORCHeS)

104
Q

Foscarnet - side effect

A

Nephrotoxicity

105
Q

TB produces what vitamin?

A

Niacin

106
Q

MAC prophylaxis

A

MACrolides (“50 cent = MAC daddy of rap”)

107
Q

Painful genital lesion + travel or sex industry

Painful genital lesions + no travel or sex industry

A

H. ducreyi

HSV

108
Q

The A’s of Aspergillus

A
Acute angle
Amphotericin B (Voriconazole)
Aflatoxin
Allergic/Anaphylactic
Aspergilloma
Angioinvasion in AIDS brain
109
Q

Prinzmetal angina happens at night…think what?

A

Patient is a SMOKER - smoke withdrawal = episode

110
Q

T wave elevation - 2 potentials

Result in BOTH cases?

A
  • Decreased ATP
  • Increased K+

Decreased function of Na/K ATPase

111
Q

Q waves mean what?

A

Large area of dead heart (24-48 hours)

112
Q

MVP - diseases?

A

FAME

  • Fragile X
  • ADPDK
  • Marfans
  • Ehlers Danlos
113
Q

Migratory polyarthritis of big joints

A

Rheumatic fever
Gonorrhea
Lyme disease

114
Q

Aortic stenosis - louder vs. softer

A
Louder = more preload (squat, lie down, leg lift)
Softer = less preload (standing, valsalva)
115
Q

Hypertrophic cardiomyopathy - louder vs. softer

A
Louder = less preload (less pressure pushing walls apart)
Softer = more preload
116
Q

Close the PDA –> Death – options?

A
  • Transposition of the great vessels

- Pre-ductal co-arctation

117
Q

2 causes of A fib

A

Mitral stenosis

Hyperthyroidism

118
Q

WPW - drugs to avoid?

A

Beta blockers, CCBs (“2 and 4 shut the door”)

119
Q

COPD –> atrial tachycardia

ECG?

Treatment?

A

Multifocal atrial tachycardia (MAT)
- Respiratory acidosis –> unstable myocytes

3+ P-wave morphologies

CCB

120
Q

Ramaña sign

A

Chagas bug enters through conjunctiva –> unilateral painless orbital swelling

121
Q

Hypertrophic cardiomyopathy - type of arrythmia

Tx?

Associated with what disease?

A

Re-entry (AP wraps around the MICROINFARCTS in the septum and then go back up)

Beta blocker

Friedreich Ataxia

122
Q

African child w/ malnutrition, helminth, and restrictive cardiomyopathy

A

Endomyocardial elastofibrosis

123
Q

Eosinophilia + restrictive cardiomyopathy

A

Loeffler’s syndrome

124
Q

Kussmaul sign

A

Worse JVD on inspiration - sign of restrictive cardiomyopathy

125
Q

Carcinoid syndrome…what murmurs?

How to remember?

A

Tricuspid insufficiency
Pulmonary stenosis

“Carcinoid TIPS”

126
Q

Carcinoid syndrome in L heart

A

Bronchial carcinoid

127
Q

Carcinoid…vitamin deficiency?

A

Niacin (Niacin and 5-HT both use tryptophan)

128
Q

Most common malignant tumor of the heart

A

Melanoma

129
Q

Cytokeratin 7 positive

Cytokeratin 20 negative

A

SCC of the LUNG (flip 7 around into “L” for lung)

130
Q

Stein-Leventhal syndrome

Treatment (4)

A

PCOS

Spironolactone (block androgens)
Metformin (for insulin intolerance)
Clomiphene (for ovulation)
OCPs (decrease LH)

131
Q

Brenner Tumor

How to remember?

A

Transitional epithelium

BRuce jENNER is in a TRANSITIONAL state

132
Q

Schilller-Duval bodies

How to remember?

A

Yolk sac tumor (endodermal sinus)

“sCHILLER for EGGS, filtering the YOLK”
- Glomerulus-like

133
Q

CA 15-3
CA 19-9
CA 125

A

3 turned on side = boobs (Breast)
9 turned on side = pancreas shape (Pancreatic)
25 together = ovaries and uterus

134
Q

Dermoid cyst - cancer types? (2)

A

SCC (skin), Glioma

135
Q

Graves w/o goiter

A

Struma ovarii

136
Q

Yellow ovarian tumor that’s NOT fat

Cancer risk? (2)

Pathology finding?
How to remember?

A

Granulosa cell tumor (Hormone (estrogen) production)

Breast, ovarian

Call-Exner Bodies
“CALL Ghostbusters” - G for Granulosa

137
Q

Sertoli-Leydig cell tumor - produces what?

Findings in child vs. woman

A

Androgens

Child = pseudohermaphrodite
Adult = virilization
138
Q

Snowstorm ultrasound

A

Complete mole

139
Q

Molar pregnancy –> HCG stays up (2)

A

Choriocarcinoma

Invasive mole

140
Q

Molar pregnancy w/ nucleated RBCs

A

Partial mole (nucleated RBCs = fetal tissue)

141
Q

Child w/ brain mass w/ thick corkscrew eosinophilic structures

Mutation?
Drug?

A

Rosenthal fibers - pilocytic astrocytoma

BRAF V600E
Vemurafenib

142
Q

Brain mass w/ fried egg

Other description?

How to remember?

Location?

A

Oligodendroglioma

Perinuclear halos

“O-leggo-my-eggo”

Frontal lobe white matter

143
Q

Ependymoma - kids vs. adults

A
Kids = 4th ventricle
Adults = spinal cord (NF-2)
144
Q

Rosette vs. Pseudorosette

A
Rosette = empty in middle
Pseudorosette = something (BV, etc) in middle
145
Q

Homer-Wright pseudorosettes

A

Medulloblastoma

146
Q

Flexner-Wintersteiner rosettes

A

Retinoblastoma

147
Q

Ewing sarcoma…

  • Translocation
  • Genes (2)
  • CD marker
A

11;22 (11 + 22 = 33)
EWS + FLI-1 (Ewing FLIes high)
CD99 (33x3)

148
Q

Primitive neuroectodermal tumor (PNET)

A

Ewing sarcoma of the brain

“Ewing shooting for the pNET”

149
Q

Schwannoma - path findings

Gene?

A

Antoni A, Antoni B, Verocay bodies
(“Good Italian boy”)

NF-2 (bilateral)

150
Q

Dural tail

Path finding?

Receptor findings?

Gene?

A

Meningioma - attached to dura

Psammoma bodies (“whorling”)

ER+, PR+ (woman at end of repro life)

NF-2

151
Q

Adamantinoma

A

Tooth tumor (Craniopharyngioma)

152
Q

Giant cell tumor of bone - initial event

Finding on imaging? Why?

A

Increased osteoblastic precursors express RANK-L –> osteoclast proliferation

Bubbles in the epiphysis - calcification around the edges

153
Q

Osteosarcoma - secondary to what conditions? (3)

A

Paget’s disease
Radiation
Osteomyelitis

154
Q

Burkitt’s - other name

A

Small, NON-cleaved, NHL

155
Q

American woman w/ Burkitt’s - 2 possible places

A

Mesentery (like men)

OVARY