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Barone Notes Flashcards

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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
Treatment for hairy cell leukemia
Cytarabine (the saber tiger is very hairy)
26
Psammoma bodies
Meningioma, Mesothelioma | Papillary thyroid, Papillary ovarian
27
Empty, clear nuclei in thyroid mass
Orphan Annie - Papillary thyroid CA
28
Anasarca - what is it?
Severe generalized edema
29
Exudate - what lab finding? If lymphocytes? If eosinophils?
High LDH TB, viral Type 1 HS
30
**Non-pitting edema - options
Myxedema (thyroid) | Lymphedema
31
**Palpable purpura If IgA? If IgG?
Small vessel vasculitis HSP Microscopic polyangiitis
32
Superficial bleeding Normal platelets Options?
Aspirin Uremia Genetic platelet disease (B-S, GT, vWF)
33
Superficial bleeding Normal platelets Abnormal Ristocetin Options?
vWF deficiency Bernard-Soulier
34
Superficial bleeding Normal platelets No aggregation with ADP or TxA2
Glanzmann Thrombasthenia
35
Superficial bleeding Low platelets Options?
Destruction (ITP, TTP, HUS, DIC) Production (BM issue) Sequestration (Spleen)
36
Chronic secondary ITP - causes (3)
SLE HIV H. pylori
37
Treatment for TTP
Fresh frozen plasma
38
Factors that need Calcium How to remember?
2, 7, 9, 10 Same ones that need Vitamin K Make an inverted triangle in Barone's drawing
39
C. diff treatments (3)
Metronidazole Vancomycin Fidaxomicin
40
Alpha-RAR - what type of receptor? ATRA - maturing promyelocytes into what?
Zinc finger NEUTROPHILS
41
Bleeding from umbilical stump + normal labs
Factor 13 deficiency (not measured by PT/PTT)
42
Hemophilia C
Factor 11 deficiency
43
Factor 5 Leiden - explain Inheritence?
Cannot be turned off by Protein C/S Autosomal DOMINANT
44
Protein C/S deficiency - problem?
Cannot turn off Factor 5 or 8
45
Treatment for Antithrombin 3 deficiency Why?
Heparin Heparin --> increased AT3 activity
46
Heparin does NOT increase PTT...why?
AT3 deficiency (nephrotic syndrome)
47
Caisson disease
Avascular necrosis of femoral head from nitrogen bubbles (scuba diving --> ascent)
48
1 week after DVT --> clotting episode(s) Cause? What is released? (3)
Heparin-induced thrombocytopenia Platelet factor 4 (PF4) antibodies --> bind Fc receptor on platelets and activate them ADP, TxA2, SEROTONIN
49
HIT - treatment
Stop heparin Direct thrombin inhibitor (Argatroban, -rudin, Dabigatran) Warfarin
50
**Trisomies - commonalities (5)
- Mental retardation - Meiosis ONE - 35+ y/o mom - Endocardial cushion defect - FISH or karyotype
51
Mongoloid facial features
Down syndrome (absent nasal bridge cartilage)
52
Increased nuchal lucency
Down syndrome
53
White fibrotic speckling in eyes
Brushfield spots (Down syndrome)
54
Baby w/ Down syndrome...cancer risk?
AML M7
55
Downs vs. Edwards -- quad scan
Both - low AFP, low estrogen Downs - high HCG, high Inhibin A Edwards - low EVERYTHING ("E = EVERYTHING down")
56
Cell-free fetal DNA - used for what? (2)
Sex of baby | Trisomies of baby
57
Horseshoe kidney + chromosomal abnormality (2)
Turner's | Edwards
58
Patau syndrome features + 2 chromosome 13's
SHH deletion
59
Mewing cry - disease? Why? Other defects?
Cri-du-chat (Chromosome 5p) Hypoplasia of larynx ``` Cushion defect (VSD, etc.) Microcephaly ```
60
Eunuchoid body habitus
Klinefelter's
61
Klinefelters - cancer risks?
Breast | Seminoma
62
Why bad ovaries in Turner's?
2nd X needed for oogenesis and ovarian development
63
Turner's - why short?
SHox (stature homeobox) gene on X chromosome
64
Turner's - cancer risk?
Dysgerminoma
65
Lysosomal storage disease + whorled membranes
Tay-Sachs ("GM rims are whorled")
66
Niemann-Pick - accumulation in what? (2)
Macrophages (organomegaly), Neurons (CNS and cherry-red spot)
67
Lysosomal storage disease + fibrillary cytoplasm Chromosome? Accumulation in what?
Gaucher's (crumpled tissue paper) Chr. 1 ("#1 MC disease") Macrophages (LE system), Neurons (RARE)
68
Erlenmeyer flask deformity (2) How to distinguish?
Gaucher's (lytic bone) Osteopetrosis (dense bone)
69
MPS diseases - commonalities (reason for each)
Chondrocytes --> short, arthritis, gargoyle deformities Macrophages --> HSM Fibroblasts --> carpal tunnel, valvular dz, cloudy corneas PAS positive lysosomes -- sulfates accumulate
70
Hurler - enzyme Findings?
Alpha-L-Iduronidase Zebra bodies (like Niemann-Pick)
71
Hunter syndrome - enzyme Only in who?
Iduronate sulfatase MEN (X-recessive)
72
Anti-SSA (Ro) Ab in pregnancy
IgG crosses placenta --> FETAL HEART BLOCK
73
Antiphospholipid syndrome - why increased PTT?
Lupus anticoagulant -- bind to phospholipids in PTT test and cause prolonged PTT
74
Prolonged russel viper venom test (RVVT)
Antiphospholipid Ab syndrome (same reason as PTT)
75
Most common cause of recurrent spontaneous abortions
Balanced translocation in mom --> unbalanced in babies
76
Positive VDRL - normally due to what? Falsely positive? Why? How to confirm APLA syndrome vs. syphilis?
Anti-cardiolipin antibodies Anti-phospholipid antibodies -- LOOK LIKE anti-cardiolipin FTA-ABS negative = APLA syndrome
77
Lupus - type 2 HS vs. type 3 HS symptoms
Type 2 = blood (H.A., low platelets, neutropenia) | Type 3 = everything else
78
Sterile nodules on BOTH sides of mitral valve
Libman-Sacks endocarditis (SLE)
79
Lupus - 2 most common types of renal disease
``` Type 4 (MC) = DPGN (wire loops, sub-endo deposits) Type 5 = Membranous nephropathy ```
80
Hydroxychloroquine - side effect Commonly being used for what now?
Accumulation in EYE Autoimmune diseases
81
Sjogrens syndrome - often with what else? Best place to biopsy?
Rheumatoid arthritis Lip (minor salivary gland)
82
Scleroderma - cytokines
***TGF-beta, IL-1, PDGF, FGF
83
Anti-topoisomerase-1 antibodies Organs affected? (5) Contraindicated cancer drugs? (3)
Diffuse scleroderma Lungs, heart, kidney, esophagus, GI Bleomycin, Busulfan, Amiodarone
84
Anti-U1-RNP antibodies How to remember?
MCTD "I wish U were 1 disease"
85
DiGeorge - heart defects Psych risks?
ToF, Truncus Arteriosus Schizophrenia, Bipolar disease
86
TBX1 gene mutation
Great vessels Muscles and bones of face Thymus and Parathyroid
87
Wiskott-Aldrich - symptoms Ig findings Risk of what?
Thrombocytopenia, infections, eczema E and A are HIGH ("Whiskey = Ethyl Alcohol") M is LOW ("Whiskey = Mental function decrease") Non-Hodgkin's Lymphoma
88
Diagnosing AIDS in baby
PCR
89
Multinucleated giant cells + encephalopathy
AIDS dementia/encephalopathy (microglia)
90
HIV - what binds to CD4? What binds to CCR5/CXCR4?
GP120 GP41
91
GP41 blocker | CCR4 blocker
Enfuviritide | Maraviroc
92
RT nucleoside inhibitors (4) | RT non-nucleoside inhibitors (2)
Zidovudine, Didanosine, Lamivudine, Emtracitabine | Efavirenz, Nevirapine
93
Protease inhibitors (4)
Idinavir, Ritonavir, Saquinavir, Nelfinavir
94
Integrate inhibitor
Raltegravir (-"tegra")
95
Typical 3 drug HIV combo
2 NRTI's + PI or NNRTI
96
T-cells
PCP, dementia Hemolytic anemia in G6PD deficiency (SMX, Dapsone)
97
T-cells
Toxo, Cryptococcus, Cryptosporidium
98
T-cells
CMV, MAC, PML
99
PML presents like what disease? How different?
MS - but CONSTANT and PROGRESSIVE
100
T-cells
Thrush, TB, VZV
101
HIV + abundant pink hyaline in the alveoli
PCP pneumonia
102
HIV + Esophagitis - endothelial vs epithelial cells
``` Endothelial = CMV Epithelial = Herpes ```
103
Periventricular calcifications in baby Basal ganglia calcifications in baby
CMV (TORCHeS) Toxo (TORCHeS)
104
Foscarnet - side effect
Nephrotoxicity
105
TB produces what vitamin?
Niacin
106
MAC prophylaxis
MACrolides ("50 cent = MAC daddy of rap")
107
Painful genital lesion + travel or sex industry Painful genital lesions + no travel or sex industry
H. ducreyi HSV
108
The A's of Aspergillus
``` Acute angle Amphotericin B (Voriconazole) Aflatoxin Allergic/Anaphylactic Aspergilloma Angioinvasion in AIDS brain ```
109
Prinzmetal angina happens at night...think what?
Patient is a SMOKER - smoke withdrawal = episode
110
T wave elevation - 2 potentials Result in BOTH cases?
- Decreased ATP - Increased K+ Decreased function of Na/K ATPase
111
Q waves mean what?
Large area of dead heart (24-48 hours)
112
MVP - diseases?
FAME - Fragile X - ADPDK - Marfans - Ehlers Danlos
113
Migratory polyarthritis of big joints
Rheumatic fever Gonorrhea Lyme disease
114
Aortic stenosis - louder vs. softer
``` Louder = more preload (squat, lie down, leg lift) Softer = less preload (standing, valsalva) ```
115
Hypertrophic cardiomyopathy - louder vs. softer
``` Louder = less preload (less pressure pushing walls apart) Softer = more preload ```
116
Close the PDA --> Death -- options?
- Transposition of the great vessels | - Pre-ductal co-arctation
117
2 causes of A fib
Mitral stenosis | Hyperthyroidism
118
WPW - drugs to avoid?
Beta blockers, CCBs ("2 and 4 shut the door")
119
COPD --> atrial tachycardia ECG? Treatment?
Multifocal atrial tachycardia (MAT) - Respiratory acidosis --> unstable myocytes 3+ P-wave morphologies CCB
120
Ramaña sign
Chagas bug enters through conjunctiva --> unilateral painless orbital swelling
121
Hypertrophic cardiomyopathy - type of arrythmia Tx? Associated with what disease?
Re-entry (AP wraps around the MICROINFARCTS in the septum and then go back up) Beta blocker Friedreich Ataxia
122
African child w/ malnutrition, helminth, and restrictive cardiomyopathy
Endomyocardial elastofibrosis
123
Eosinophilia + restrictive cardiomyopathy
Loeffler's syndrome
124
Kussmaul sign
Worse JVD on inspiration - sign of restrictive cardiomyopathy
125
Carcinoid syndrome...what murmurs? How to remember?
Tricuspid insufficiency Pulmonary stenosis "Carcinoid TIPS"
126
Carcinoid syndrome in L heart
Bronchial carcinoid
127
Carcinoid...vitamin deficiency?
Niacin (Niacin and 5-HT both use tryptophan)
128
Most common malignant tumor of the heart
Melanoma
129
Cytokeratin 7 positive | Cytokeratin 20 negative
SCC of the LUNG (flip 7 around into "L" for lung)
130
Stein-Leventhal syndrome Treatment (4)
PCOS Spironolactone (block androgens) Metformin (for insulin intolerance) Clomiphene (for ovulation) OCPs (decrease LH)
131
Brenner Tumor How to remember?
Transitional epithelium BRuce jENNER is in a TRANSITIONAL state
132
Schilller-Duval bodies How to remember?
Yolk sac tumor (endodermal sinus) "sCHILLER for EGGS, filtering the YOLK" - Glomerulus-like
133
CA 15-3 CA 19-9 CA 125
3 turned on side = boobs (Breast) 9 turned on side = pancreas shape (Pancreatic) 25 together = ovaries and uterus
134
Dermoid cyst - cancer types? (2)
SCC (skin), Glioma
135
Graves w/o goiter
Struma ovarii
136
Yellow ovarian tumor that's NOT fat Cancer risk? (2) Pathology finding? How to remember?
Granulosa cell tumor (Hormone (estrogen) production) Breast, ovarian Call-Exner Bodies "CALL Ghostbusters" - G for Granulosa
137
Sertoli-Leydig cell tumor - produces what? Findings in child vs. woman
Androgens ``` Child = pseudohermaphrodite Adult = virilization ```
138
Snowstorm ultrasound
Complete mole
139
Molar pregnancy --> HCG stays up (2)
Choriocarcinoma | Invasive mole
140
Molar pregnancy w/ nucleated RBCs
Partial mole (nucleated RBCs = fetal tissue)
141
Child w/ brain mass w/ thick corkscrew eosinophilic structures Mutation? Drug?
Rosenthal fibers - pilocytic astrocytoma BRAF V600E Vemurafenib
142
Brain mass w/ fried egg Other description? How to remember? Location?
Oligodendroglioma Perinuclear halos "O-leggo-my-eggo" Frontal lobe white matter
143
Ependymoma - kids vs. adults
``` Kids = 4th ventricle Adults = spinal cord (NF-2) ```
144
Rosette vs. Pseudorosette
``` Rosette = empty in middle Pseudorosette = something (BV, etc) in middle ```
145
Homer-Wright pseudorosettes
Medulloblastoma
146
Flexner-Wintersteiner rosettes
Retinoblastoma
147
Ewing sarcoma... - Translocation - Genes (2) - CD marker
11;22 (11 + 22 = 33) EWS + FLI-1 (Ewing FLIes high) CD99 (33x3)
148
Primitive neuroectodermal tumor (PNET)
Ewing sarcoma of the brain | "Ewing shooting for the pNET"
149
Schwannoma - path findings Gene?
Antoni A, Antoni B, Verocay bodies ("Good Italian boy") NF-2 (bilateral)
150
Dural tail Path finding? Receptor findings? Gene?
Meningioma - attached to dura Psammoma bodies ("whorling") ER+, PR+ (woman at end of repro life) NF-2
151
Adamantinoma
Tooth tumor (Craniopharyngioma)
152
Giant cell tumor of bone - initial event Finding on imaging? Why?
Increased osteoblastic precursors express RANK-L --> osteoclast proliferation Bubbles in the epiphysis - calcification around the edges
153
Osteosarcoma - secondary to what conditions? (3)
Paget's disease Radiation Osteomyelitis
154
Burkitt's - other name
Small, NON-cleaved, NHL
155
American woman w/ Burkitt's - 2 possible places
Mesentery (like men) | OVARY

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