7/13 Flashcards
1
Q
what can increase risk of osteoporosis and pathologic fractures
A
glucocorticoids, Heparin, Thiazolidinediones:
decrease bone formation
PPI:
decrease Ca absorption
GnRH agonists:
decrease T and estrogen
Aromatase inhibitors and Medroxyprogesterone:
decrease estrogen
CYP450 anticonvulsants:
increase Vit D metabolism
2
Q
what 2 common manifestations come from prolactinoma
A
prolactin-induced hypogonadism (low estrogen), which leads to low bone density
also vaginal dryness
3
Q
what is the t(15;17) cancer
A
APL, the M3 type of AML
associated with the promyelocytic leukemia (PML) gene on Chr 15 and the Retinoic Acid Receptor Alpha (RARa) on Chr 17
PML/RARA fusion codes for an abnormal retinoid acid receptor, which inhibits myeloblast differentiation
4
Q
how do you dx T1DM
A
fasting blood glucose test and Hb A1c
glucose tolerance tests are reserved for gestational diabetes and CF-related diseases
5
Q
what’s the pathogenesis of MSUD
A
defective breakdown of branched-chain amino acids,
Isoleucine, Leucine, Valine
by the branched-chain alpha-ketoacid dehydrogenase complex. May be able to somewhat treat with Thiamine.
“I Love Vermont’s maple syrup from B1anched trees”
6
Q
what gives urine the sweet odor in MSUD
A
metabolite of Isoleucine
7
Q
what are the cofactors required for BCKCD
A
Thiamine Lipoate Coenzyme A FAD NAD
“Tender Loving Care For Nancy”
some MSUD pts improve with high doses of Thiamine tx
8
Q
what doe most disorders of the urea cycle require
A
Arginine as an essential Amino Acid
these pts often develop hyperammonemia, and Arginine is administered for production of downstream water-soluble intermediates (ornithine, citrulline) that lead to Nitrogen disposal and decreased plasma NH3 levels
9
Q
what are 2 vitamins that are recommended in hyperhomocysteinemia
A
Pyridoxine and Cobalamin
Vitamin B6 and B12
10
Q
what’s the pathogenesis of McCune Albright Syndrome
A
mosaic somatic mutation in the GNAS gene encoding the stimulatory alpha-subunit of G protein
constitutive activation of CAMP/adenylate cyclase leads to overproduction of several hormones
lethal if the mutation occurs before fertilization (affects all cells)
but survivable in pts with mosaicism
11
Q
what are the clinical features of McCune Albright Syndrome
A
Café-Au-Lait spots (unilateral)
Fibrous dysplasia
Endocrine abnormalities (precocious puberty, hyperthyroidism, etc)
12
Q
typical systemic features of sarcoidosis
A
respiratory symptoms systemic symptoms skin lesions uveitis Lofgren syndrome bilateral hilar adenopathy LAD noncaseating granulomas Hypercalcemia elevated serum ACE level African American!
13
Q
what is the pathogenesis of hypercalcemia in sarcoidsosis
A
1-alpha hydroxylase normally mades 1,25-dihydroxyvitamin D in the kidney. This step is regulated by PTH’s response to blood Ca levels.
Sarcoidosis:
1-alpha-hydroxylase expression in ACTIVATED MACROPHAGES in the lung and lymph nodes causes PTH-independent 1,25-dihydroxyvitamin D.
This leads to increased intestinal absorption of Ca and hypercalcemia.
14
Q
which strains of H flu are nontypable
A
those that do not form an antiphagocytic capsule
the type b vaccine is only useful for the capsule’d bacteria
15
Q
how do you calculate attributable risk
A
AR % =
100 x [(RR - 1) / RR]
so if smokers have 5x more likely of getting cancer,
AR % =
100 x [(5-1) / 5]
16
Q
what are the synonyms for accuracy and precision
A
Accuracy = validity
Precision = reliability
17
Q
what does HPV 1-4 present with
A
skin warts (verruca vulgaris)
18
Q
what does HPV 6,11 present with
A
genital warts (condylomata acuminata
19
Q
what does HPV 16,18,31,33 present with
A
cervical, vaginal, vulvar, and anal neoplasia
20
Q
how do you describe koilocytes
A
dysplastic cervical cells with pyknotic “raisinoid” nucleus and hyperchromasia
irregularly staining cytoplasm with perinuclear clearing, resulting in a halo
21
Q
what doe you see koilocytes in
A
HPV infection
22
Q
what is the buzzword phrase for HPV infection
A
post-coital bleeding
23
Q
what is duodenal atresia
A
failure to RECANALIZE the duodenum, leading to double bubble sign.
Bilious vomiting
24
Q
what is duodenal atresia associated with
A
Down Syndrome
25
what is jejunal atresia
disruption of the mesenteric VASCULATURE, causing ischemic necrosis and bowel discontinuity
still presents with bilious vomiting
"apple peel" atresia occurs when the SMA is OCCLUDED, resulting in a blind-ending jejunum, absent bowel/mesentery, then the terminal ileum spiraled around the ileocolic vessel
26
what is DiGeorge Syndrome's cause
maldevelopment of the 3rd pharyngeal pouch (inferior parathyroid and thymus) and 4th pharyngeal pouch (superior parathyroid) because the neural crest fails to migrate
27
what does DiGeorge present with
PTH and thymic hypoplasia
hypocalcemia
T cell deficiency
```
"CATCH 22"
Cleft palate
Abnormal facies
Thymus aplasia
Cardiac defects
Hypocalcemia
```
28
what is DiGeorge's genetic problem
22q11.2 micro deletion
29
what does the supraspinatus do
arm abduction
30
what does the infraspinatus do
external rotation of arm
31
what does the teres minor do
adduction and external rotation of arm
32
what does the subscapularis do
adduction and internal rotation of arm
33
where do the SItS muscle originate on scapula
supraspinous fossa
infraspinous fossa
lateral border
sub scapular fossa
34
where do the SItS muscles attach on the humerus
greater tuberosity x 3
| lesser tuberoscity
35
what innervates the SItS muscles
Supra scapular nerve
supra scapular nerve
Axillary nerve
upper and lower sub scapular nerve
36
what are the true and false ribs
true: first 7 rib paris
false: lower 5 pairs (cartilage does not attach to the sternum)
37
which rib does the kidney lie against
12th rib
38
what ribs overly the spleen
9,10,11
39
what causes warfarin-induced skin necrosis
an underlying protein C or S deficiency
early loos of protein C leaves pts in a transient hyper coagulable state until the other coagulant factors are inhibited
this causes microvascular occlusion, hemorrhagic skin necrosis
40
what is BCL-2
B-cell Lymphoma-2 is a
| proto-oncogene because it has anti-apoptotic effects
41
what is t(14;18)
Follicular lymphoma
42
what is wrong in follicular lymphoma
BCL-2 over expression
43
what happens with any translocation associated with 14
over-expression
this is the Ig heavy chain spot
44
what is made in CML
BCR-ABL hybrid
9;22 translocation on Philadelphia chromosome
"ABL to eat 9hiladelphia CreaML cheese"
45
what are epidermal growth factors over expressed in
many cases of breast cancer
46
what are epidermal growth factor examples
ErbB2, HER2, neu
47
what cells does HIV invade
CD4, macrophages, and dendritic cells
48
what are the core proteins in HIV
gag: codes for p24 and p7
49
what are the envelope proteins in HIV
env: codes for gp41 and gp120
50
what is the protease protein in HIV
pol: codes for protease to cleave HIV mRNA into functional, mature viruses, Reverse Transcriptase, and Integrase
51
what is gp41's significance
allows for HIV fusion
52
what is p120's signifcance
HIV's surface p120 allows binding and entry into host CD4 cell via chemokine receptor CXCR4 or CCR5
53
what does a mutation in pol gene give you
resistance to NRTIs, NNRTIs, protease inhibitors, and integrase inhibitors,
since pol gene makes proteases, integrases, and reverse transcriptases
54
where does entry and fusion inhibitor resistance come from
mutations in env gene
55
what do env mutations cause
escape from host neutralizing antibodies
56
what does pyruvate kinase do
glycolytic pathway enzyme that converts phsophoenolpyruvate to pyruvate, generating a molecule of ATP
PEP --> pyruvate
57
what does pyruvate kinase help facilitate
the ATP molecule generation is used for RBC energy.
| after pyruvate, RBCs go to lactate since they lack mitochondria and can't use TCA cycle.
58
what does pyruvate kinase deficiency cause
hemolytic anemia 2/2 failure of glycolysis and sufficient ATP production in RBCs and failure to maintain membrane integrity.
splenic parenchyma with red pulp undergoes hyperplasia to remove the deformed/rigid RBCs
59
why is methadone helpful in treating heroin and opioid withdrawal
long half life
abrupt cessation can still cause withdrawal, although less severe
60
what enzyme is deficient in Pompe disease
alpha-1,4-glucosidase in Lysosomes
| Pompe trashes the pump, which has 4 chambers
61
how does Pompe present
baby with CARDIOMEGALY and hypotonia
leads to early death
glycogen accumulation in lysosomes (PAS stain +)
normal blood glucose levels, because problem is only in lysosomes
62
what stains PAS
glycogen
63
what enzyme is deficient in McArdle Disease and Hers disease
glycogen phosphorylase in Muscles
glycogen phosphorylase in Hepatic cells
64
how does mcardle disease present
Mcardle targets Muscles-
muscle cramps, myoglobinuria
normal glycogen and normal blood glucose levels
high glycogen in muscles, but cannot break it down
no rise in blood lactate levels after exercise, because glycogen can never get into the glycolysis pathway to get to lactate
weakness and fatigue with exercise, but have second wind phenomenon due to increased muscular blood flow
65
what enzyme is deficient in Von Gierke
Glucose-6-phosphatase
it's the last step in making glucose in the liver
66
how does Von Gierke present
liver cannot do the last step of glucose synthesis
as a result, you'll have massive glycogen buildup in liver, and since it can't make glucose during fasting, you'll have SEVERE fasting hypoglycemia, high blood lactate, uric acid (gout), and hepatomegaly
67
how doe you treat Von Gierke
frequent glucose
avoid fructose and galactose, that have to be made into glucose
68
what enzyme is deficient in Cori
Debranching enzyme
alpha-1,6-glucosidase
"core has 6 pack abs"
"C,D"
"can't cleave"
69
how does Cori disease present
milder form of Von Gierke
still have hepatomegaly
ketotic hypoglycemia
hypotonia and weakness
you have abnormal glycogen structures and very short outer chains- "dextrin like" because you can't get your molecule totally straight; it just has little nubs
gluconeogenesis is intact, as long as you're getting your glucose source from somewhere else, so that's why it's milder than Von Gierke
glycogenolysis path is not intact
70
what is the progression of atherosclerosis
endothelial cell dysfunction
macrophage and LDL accumulation
foam cell formation (lipid laden macrophage)
fatty streaks
SM cell migration (PDGF and FGF)
extracellular matrix deposition (collagen forms weak fibrous cap)
fibrous plaque (via vascular SM cells)
complex atheroma
71
what is amino glycoside's MOA
bind to 30s ribosomal subunit
bactericidal
72
what is I-cell disease
inclusion cell disease
lysosome-bound proteins are not phosphorylated with specific mannose residues, are not transported properly through Golgi, and are released into the extracellular space rather than going back to the lysosome for degradation
73
what enzyme is deficient in I cell disease
phosphotransferase enzyme, which catalyzes the phosphorylation of mannose residues on lysosome-bound proteins
74
what is SCID
Adenosine Deaminase deficiency,
| leading to a defect in T cell development, leading to both cellular and humoral immunity loss (T and B cells)
75
how does SCID present
infancy with multiple infections, thrush, failure to thrive, and diarrhea
76
what are the SCID findings
absent CD3 T cells, so no TRECs (T-cell receptor excision circles)
hypogammaglobulinemia
lymphopenia
Absence of thymic shadow, germinal centers, and T cells
77
how doe you treat SCID
bone marrow transplant ASAP
78
what is X-linked agammaglobulinemia
a B cell disorder called Bruton agammaglobulinemia
defect in BTK, a tyrosine kinase gene, so no B cell maturation, so low Ig in all classes
presents after 6mo because of mom's IgG
79
what is the buzzword for coarse facial features
I-disease
80
what does a skin antigen test do
it determines presence of cellular, or T cell-mediated immunity through the Type 4 delayed hypersensitivity rxn
81
what are the key cells involved in skin antigen tests
CD8 T cells, CD4 T cells, and macrophages
82
how does the skin antigen test work
inject antigen
macrophages present the antigen to CD4+ hyper T cells
CD4+ cells secrete cytokines to recruit CD8+ cells
induration and erythema
CD4 and CD8 cells both produce IFN-gamma, which stimulates phagocytosis of the antigen by the macrophages
83
when is glucose excreted into the urine
when it reaches higher plasma concentrations
glucose is excreted when the filtered amount exceeds the transport maximum back into the blood
84
what is a complete mole
```
all DNA comes from sperm
46 XX (1 sperm duplicates) or 47XY (2 sperm)
```
```
NO fetal tissue (need egg)
SUPER HIGH b-hCG
clusters of grape cysts
large uterus
snowstorm on US
```
risk of Gestational Trophoblastic Neoplasia and choriocarcinoma, so monitor b-hCG post-abortion
85
what is a partial mole
2 sperm + 1 egg
69 XXY, 69 XYY, 69 XXX
"partial" fetus
elevated b-hCG, but not extreme
no enlarged uterus
rare risk for neoplasia or malignancy
86
what is most atrophied in Alzheimer's
diffuse cortical atrophy, but hippocampus is most atrophied
87
what does Vitamin C do
antioxidant
facilitates Fe absorption by reducing it to Fe2+ (can treat methemoglobinemia)
HYDROXYLATION OF PROLINE AND LYSINE IN COLLAGEN SYNTHESIS
necessary for dopamine beta-hydroxylase, which converts dopamine to NE
88
how does Vitamin C deficiency present
Vitamin C causes sCurvy 2/2 Collagen synthesis defect
swollen gums!!
"corkscrew" hair!!
brusing, petechiae, hemarthrosis, anemia, poor wound healing, weak immune response
89
what are the results of conductive hearing loss
Rinne test is abnormal in affected ear (can't hear after you take it off the mastoid process)
Weber test lateralizes to the AFFECTED ear.
90
what is age-related macular degneration
degeneration of macula (Central area of retina)
causes distortion and eventual loss of central vision
91
how does age-related macular degeneration present in dry vs wet
decreased vision and grey discoloration of macula
Dry:
common; 80%
deposition of yellow material between Bruch membrane and retinal pigment epithelium
gradual decrease in vision
prevent progression w/ Multivitamin and antioxidant supplements
Wet:
retinal neovascularization due to increased VEGF levels. Rapid loss of vision 2/2 hemorrhage
Treat with anti-VEGF and smoking cessation
92
what are anti-VEGF drugs and what are they used in
ranibizumab, bevacizumab
"After I RAN, I had my EYE on those VEG-F-ies and BEVerages"
age-related retinal neovascularization in macular degeneration
93
what are macrolide names
azithromycin
clarithromycin
erythromycin
Clindamycin
94
what are aminoglycoside names
```
Gentamycin
Neomycin
Amikacin
Tobramycin
Streptomycin
```
95
characterize osteoporosis bone
loss of total bone mass that results in trabecular thinning with few interconnections
primarily involves trabecular bones
96
characterize hyperparathyroidism bone
subperiosteal thinning and resorption with cystic degeneration
primarily involves cortical bones
there's an increase in osteoclastic activity
97
describe Vit D deficiency bone
excessive uniminearlized osteoid, resulting in low mineral density.
low Vitamin D is not absorbing appropriate Ca and PO4 from GI tract to mineralize bone
98
describe osteopetrosis bone
persistence fo primary, unmineralized spongiosa in the medullary canals
the primary spongiosa is normally replaced by bone marrow
99
what are the seronegative spondyloarthropies associated with
(absent Rh factor)
associated with HLA B27, which is HLA Class 1
100
what are the HLA class 2 proteins
HLA-DR DP, DQ alleles
these are expressed by antigen-presenting cells (macrophages and dendritic cells) that present predominantly foreign antigens to CD4+ helper T cells.
conditions include RA, T1DM, and Celiac
101
what is Rheumatoid Factor
IgM antibodies against IgG
"i Make IgM aGainst IgG"
102
what is linked with colon adenocarcinoma reduction
regular aspirin use, as it's a COX-2 inhibitor and will decrease adenomatous polyp formation
103
what is tumor lysis syndrome
emergency that can develop during chemotherapy for cancers with rapid cell turnover, substantial tumor burden, or high sensitivity to chemo
characterized by hyperphosphatemia, hypocalcemia, hyperkalemia, and hyperuricemia
104
how can you prevent chemo-induced tumor lysis syndrome
hydration and hypouricemic agents like allopurinol or RasbURICase!
these metabolize uric acid to more soluble compounds
105
what do Hemophilia A and B labs look like
both are X-linked (think male!)
deficiency in the intrinsic pathway
prolonged PTT
NORMAL bleeding time (no problem with platelets, like in VWF)
106
what do VWF disease labs look like
prolonged bleeding time!! (a test of platelet function!) (vs Hemophilia A
normal/prolonged PTT
107
what si the metyrapone test
tests the hypothalamic-pituitary-adrenal axis
metyrapone blocks the last step of cortisol synthesis via 11-beta-hydroxylase
a normal response to low cortisol is to increase both ACTH and 11-deoxycortisol (to make cortisol)
primary adrenal insufficiency:
high ACTH
low 11-deoxycortisol
secondary/tertiary adrenal insufficiency:
both are low
108
what is a developmental field defect
multiple malformations that occur 2/2 an embryonic disturbance in an adjoining group of cells
109
what is holoprosencephaly
developmental field defect w/ spectrum of anomalies 2/2 incomplete division of the forebrain (prosencephalon)
may present with:
closely set eyes or cyclopia, cleft lip/palate, primitive nasal structure (proboscis), and mid facial clefts
110
what is Goodpasture syndrome
autoantibodies against the alpha 3 chain of type 4 collagen in GBM and alveolar BM
present with RPGN and alveolar hemorrhage
111
what are anticardiolipin antibodies seen in
antiphospholipid antibody syndrome
112
how does antiphospholipid syndrome present
recurrent arterial and venous thrombosis or recurrent spontaneous abortions
113
what are anti-topoisomerase antibodies seen in
```
systemic sclerosis
(skin thickening, Raynaud, esophageal dysfunction)
```
AKA anti-Scl-70 antibodies
114
how do you prevent tetanus
immunization with toxoid that triggers the production of antitoxin antibodies (active immunity)
circulating antibodies that neutralize bacterial products
115
what is filtration fraction
FF = GFR/RPF
usually 20% in healthy individuals!!
GFR estimated by inulin or Cr clearance
RPF estimated by PAH clearance
Clearance = [urine] x [urine flow rate] / [plasma]
116
what does mild efferent arteriole constriction do to GFR and FF
increases GFR
slightly decreases RPF, so increases FF
117
what is the pathophysiology of TTP
low ADAMTS13 level
leads to uncleared VWF multimers, which are prothrombotic
platelet trapping and activation
presents with:
schistocytes and hemolytic anemia
thrombocytopenia (increased bleeding time; normal PT/PTT)
118
what does mature mRNA have
poly-A tail
5' 7-methyl-guanosine cap
spliced out introns
119
what is seen with Henoch Schonlein Purpura
most common childhood vasculitis!!!
often follows URI
Classic triad:
PALPABLE PURPURA on buttocks/legs
arthralgias
abdominal pain/GI
vasculitis 2/2 IgA and C3 complex deposition
pathology is similar to IgA nephropathy (Berger disease), but it's more than just renal deposition
120
what is palpable purpura on buttocks/legs a buzzword for
HENOCH SCHONLEIN PURPURA
121
what does CGG trinucleotide repeat on the X chromosome go with
Fragile X syndrome
122
what does Fragile X syndrome cause
the CGG trinucleotide repeat mutates the FMR1 gene, causing FMR1 HYPERMETHYLATION, which inactivates FMR1, preventing prescription, and the production of a fragile X
123
what is an integrate inhibitor's MOA
it inhibits the integration of the double-stranded HIV DNA (made w. the reverse transcriptase) into the host cell's chromosomes, which is necessary for viral gene transcription (to make mRNA) and prevention of viral genome degradation.
if you inhibit integration, then you're inhibiting production of viral messenger RNA
124
what do NRTIs and NNRTIs inhibit
complementary DNA synthesis from a viral RNA template
125
what is the drug you give to treat acute gout
NSAIDs
| XO inhibitors and uric acid PCT reabsorption inhibitors are used for preventative future attacks
126
what is the speed of Hb movement through a gel electrophoresis
Hb A > S > C
HbC has the least negative charge because it has lysine
127
what type of mutations are HbC and HbS
missense mutations
128
where is IGF-1 released from
liver
following hepatic GH receptor stimulation then activation of the JAK-STAT signaling pathway to produce IGF-1
129
when is meiosis 1 arrested
Meiosis 1 is arrested in prOphase 1 for years until Ovulation (primary oocytes)
130
when is meiosis 2 arrested
Meiosis 2 is arrested in METaphase 2 until fertilization (2ndary oocytes)
"An egg met a sperm"
if fertilization
