Barone Notes Flashcards
H63D
Result?
Other one?
HFE
Decreased hepcidin –> increased ferroportin
C282Y
Kinyoun stain
Other name?
Acid fast
Ziehl-Neelson
G551D
How to remember?
Other one?
Cystic fibrosis
Gets to membrane, but Defective
F508
Treatment for measles
Vitamin A (immune maturation)
Increased AChE
Other one?
Neural tube defect
Increased AFP
A tumor with increased LDH = ?
High turnover = HIGH GRADE
1st enzyme finding in an MI
Myoglobin
Retinoblastoma…fxn?
How to turn off?
Bind EF2 and prevent S phase
PHOSPHORYLATE by CDKs
2 functions of P53
Turn off CDKs
Dephosphorylate RB
BRCA1 in man
BRCA1 function
Prostate cancer
DNA strand break repair
ATM function
Senses DNA damage
How to start the intrinsic apoptosis pathway
Increased P53 (b/c too much damage) –> increased BAX –> mitochondrial pore
No thymic shadow
DiGeorge
SCID
Muscle atrophy…which component gets smaller?
Muscle contraction…which component gets smaller?
MyoFIBER
MyoFIBRIL
PTEN mutation
Prostate
Thyroid
ENdometrioid carcinoma
Barrett’s esophagus…metaplasia to look like what organ?
INTESTINE (NOT stomach)
Condyloma…how to tell the difference from gross
Accuminatum = bumpy/papillary Lata = flat
HPV 1-4
Plantar wart (“1-4 from the floor”)
Red lesion on vulva + PAS positive
Extramammary Paget’s (mucin = PAS positive)
HMB-45
Melanoma (Human Melanoma Black)
BRAF (4)
Melanoma
Langerhan Cell Histiocytosis
Hairy cell leukemia
Papillary thyroid cancer
Skin lesion on palms/soles/nails of dark-skin person
C-KIT positive
Treatment?
**What else is treated by this?
Acral lentigenous melanoma
Imatinib
GIST (C-KIT), CML (BCR-ABL)
P16 mutation - skin lesion
What is it?
Treatment>
Melanoma
Cell cycle regulator
TNF-alpha, IL-2
CD1A
Positive for what else?
How to remember?
LC Histiocytosis
S100
“RAFael nadal has TENNIS RACKET for 1 Ace w/ Serve at 100 mph”
Treatment for hairy cell leukemia
Cytarabine (the saber tiger is very hairy)
Psammoma bodies
Meningioma, Mesothelioma
Papillary thyroid, Papillary ovarian
Empty, clear nuclei in thyroid mass
Orphan Annie - Papillary thyroid CA
Anasarca - what is it?
Severe generalized edema
Exudate - what lab finding?
If lymphocytes?
If eosinophils?
High LDH
TB, viral
Type 1 HS
**Non-pitting edema - options
Myxedema (thyroid)
Lymphedema
**Palpable purpura
If IgA?
If IgG?
Small vessel vasculitis
HSP
Microscopic polyangiitis
Superficial bleeding
Normal platelets
Options?
Aspirin
Uremia
Genetic platelet disease (B-S, GT, vWF)
Superficial bleeding
Normal platelets
Abnormal Ristocetin
Options?
vWF deficiency
Bernard-Soulier
Superficial bleeding
Normal platelets
No aggregation with ADP or TxA2
Glanzmann Thrombasthenia
Superficial bleeding
Low platelets
Options?
Destruction (ITP, TTP, HUS, DIC)
Production (BM issue)
Sequestration (Spleen)
Chronic secondary ITP - causes (3)
SLE
HIV
H. pylori
Treatment for TTP
Fresh frozen plasma
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
C. diff treatments (3)
Metronidazole
Vancomycin
Fidaxomicin
Alpha-RAR - what type of receptor?
ATRA - maturing promyelocytes into what?
Zinc finger
NEUTROPHILS
Bleeding from umbilical stump + normal labs
Factor 13 deficiency (not measured by PT/PTT)
Hemophilia C
Factor 11 deficiency
Factor 5 Leiden - explain
Inheritence?
Cannot be turned off by Protein C/S
Autosomal DOMINANT
Protein C/S deficiency - problem?
Cannot turn off Factor 5 or 8
Treatment for Antithrombin 3 deficiency
Why?
Heparin
Heparin –> increased AT3 activity
Heparin does NOT increase PTT…why?
AT3 deficiency (nephrotic syndrome)
Caisson disease
Avascular necrosis of femoral head from nitrogen bubbles (scuba diving –> ascent)
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
HIT - treatment
Stop heparin
Direct thrombin inhibitor (Argatroban, -rudin, Dabigatran)
Warfarin
**Trisomies - commonalities (5)
- Mental retardation
- Meiosis ONE
- 35+ y/o mom
- Endocardial cushion defect
- FISH or karyotype
Mongoloid facial features
Down syndrome (absent nasal bridge cartilage)
Increased nuchal lucency
Down syndrome
White fibrotic speckling in eyes
Brushfield spots (Down syndrome)
Baby w/ Down syndrome…cancer risk?
AML M7
Downs vs. Edwards – quad scan
Both - low AFP, low estrogen
Downs - high HCG, high Inhibin A
Edwards - low EVERYTHING (“E = EVERYTHING down”)
Cell-free fetal DNA - used for what? (2)
Sex of baby
Trisomies of baby
Horseshoe kidney + chromosomal abnormality (2)
Turner’s
Edwards
Patau syndrome features + 2 chromosome 13’s
SHH deletion
Mewing cry - disease?
Why?
Other defects?
Cri-du-chat (Chromosome 5p)
Hypoplasia of larynx
Cushion defect (VSD, etc.) Microcephaly
Eunuchoid body habitus
Klinefelter’s
Klinefelters - cancer risks?
Breast
Seminoma
Why bad ovaries in Turner’s?
2nd X needed for oogenesis and ovarian development