Shorter list of things Flashcards
(703 cards)
1
Q
t 12;21
A
B cell ALL
2
Q
t15:17
A
APML- all tranretinoic acid
3
Q
t9;22
A
CML translocation of bcr abl
4
Q
what does follicular enlargement of LN represent
A
RA and early HIV
5
Q
what does paracortex enlargement of LN represent
A
viral infection
6
Q
what does sinus histocytes enlargement of LN represent
A
LN draining tissue with cancer
7
Q
t 14;18
A
it is the follicular lymphoma- the bcl2
8
Q
t11:14
A
mantle lymphoma- it is a mistake in the cyclin D so it can go from G1 to S
9
Q
t8;14
A
Burkitt lymphoma cmyc
10
Q
can’t see out of one eye
A
lesion is at the optic tract
11
Q
can only see the middle of the vision
A
lesion is at the optic chiasm and is a pituitary lesion or a craniopharyngeoma
12
Q
can only see the left half of the vision (homonymous hemianopia)
A
lesion is in the optic tract
13
Q
can’t see the top left quadrant of vision
A
lesion is in the Meyer loop of the right temporal lobe-MCA
14
Q
can’t see lower left quadrant of vision
A
lesion of the right parietal lobe- MCA
15
Q
left hemianopia with macular sparing
A
PCA infarct in the back of the brain
16
Q
central scotoma
A
from macular degeneration
17
Q
t 11:22 mutaton
A
Ewing sarcoma
18
Q
what enzyme is deficient in McArdle disease
A
glycogen phosphorylase which takes 1-6 glycosidic bone to limited dextran
19
Q
what enzyme is deficient in Pompe disease
A
acid alpha glucosidase
20
Q
what enzyme is deficient in Cori disease
A
alpha 1-4 transferase and alpha 1-6 glucosidase
21
Q
what enzyme is deficient in vonGierke disease
A
glucose 6 phosphatase which takes glucose 6P to glucose
22
Q
what glycogen storage disease would have normal glucose levels, severe cardiomegaly, and glycogen accumulation in lysossomes- and what enzyme is deficient
A
Pompe disease- acid alpha glucosidase
23
Q
what glycogen storage disease would have hepatomegaly, ketotic hypoglycemia, hypotonia, weakness, abnormal glycogen with very short outer chains and what enzyme is deficient
A
Cori disease- the deb ranching enzymes of alpha 1,6 and alpha 1,4 are deficient
24
Q
what glycogen storage disorder would have muscle phosphorylase deficient, weakness, and fatigue with exercise, no rise in blood lactate levels after exercise- and what eznyme is deficient
A
McArdle disease and glycogen phosphorylase is deficient
25
what glycogen storage disease would have hepatomegaly, steatosis, fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia- and what enzyme is deficient
von Gierke disease- from glucose-6 phosphatase
26
what level is the biceps reflex
C5
27
what level is the triceps reflex
C7
28
what level is the knee jerk reflex
L4
29
what level is the achilles reflex
S1
30
what is the cremaster reflex levels
L1,2
31
what is the anal wink reflex and what can be a cause of it going away
S3,S4 and it can be compromised by the cause equine syndrome
32
what would S1 radiculopathy present as
compression by disc herniation. Posterior thigh and calf lateral foot sensory. Weakness of thigh extension, knee flexion, plantar flexion, and absent ankle jerk
33
what is the L5 radiculopathy present as
weakness of dorsiflexion, version, foot eversion, toe extension but no absent reflexes
34
what lipid lowering drug has the mechanism of action of inhibiting the conversion of HMG-CoA to mevalonate, a cholesterol precursor
HMG-CoA reductase inhibitors- statins
35
what lipid lowering drug decreases the mortality rate in CAD patients
statins
36
what lipid lowering drug has the mechanism of action of preventing intestinal reapportion of bile acids the liver must use cholesterol to make more
Bile acid resins- cholestyramine, colestipol, and colesevelam
37
what are the bile acid resin drugs
cholestyramine, colestipol, and colesevelam
38
what lipid lowering drug has the mechanism of action of preventing cholesterol absorption at the small intestine brush border- prevent cholesterol absorption through the intestine
ezetimibe
39
what lipid lowering drug has the mechanism of action of activating a TF to induce HDL synthesis and up regulate LPL to increase the TG clearance. Blocks cholesterol 7alpha hydroxylate and decrease cholesterol synthesis
fibrates
40
what are the fibrates
gemfibrozil, bezafibrate, fenofibrate
41
what lipid lowering drug has the mechanism of action of inhibits lipolysis in adipose tissue and reduces hepatic VLDL
niacin
42
why does niacin cause flushing
from increased prostaglandins
43
what lipid lowering agent would you use for TAG pancreatitis
vibrates like gemfibrozil, bezafibrate, and fenofibrate
44
what does fish oil do to lower lipids
antagonizes VLDL
45
why are fibrates and statins contraindicated together
it is because the vibrates impair the hepatic clearance of statins so there are increased levels of the statins which cause myopathy
46
which lipid lowering went causes gall stones and why
fibrates cause gall stones because of the decreased synthesis of bile acids and the decreased synthesis of bile acids leads to increased cholesterol in the gall bladder and it is less soluble because then there are less bile acids
47
which lipid lowering agent can induce gout and why
niacin can induce gout because it reduces the clearance of uric acid from the kidney
48
what lipid lowering agent can increase LFT
ezetimibe
49
what lipid lowering agent decreases absorption of drugs and fat soluble vitamins and Gi upset
bile acid resins- cholestyramine, colestripol, and colesevelam
50
what lipid lowering drug increases LFTs, and can cause increase myopathy
HMG CoA reductase inhibitors
51
what lipid lowering drugs increases LDL receptor recycling which increases LDL clearance
HMG CoA reductase
52
what is the DNA repair mechanism that is defective in xeroderma pigmentosa
Nucleotide excision repair
53
how does nucleotide excision repair work?normally
defective endonuclease to remove the dimers. Specific endonucleases release the oligonucleotides containing damaged bases. DNA polymerase and ligase fill and reseal the gap. Repair bulky helix distoritng lesions
54
what phase of the cell cycle does nucleotide excision repair work on?
G1
55
how does base excision repair work?
base-specific glycol's removes altered base and creates the apurinic/apyridimidine, and one of more nucleotides are removed by AP-endonuclease, which cleaves the 5 end. Lyase cleaves the 3 end. DNA polymerase Beta fills the gap, and DNA ligase seals it.
56
when does base excision repair occur
throughout the cell cycle
57
how does mismatch repair work
newly synthesized strand is recognized, mismatched nucleotides are removed and the gap is filled and resealed.
58
when does mismatch repair work
G2
59
what is non homologous end joining
brings together two ends of DNA fragments to repair double-stranded breaks. No requirement for homology.
60
what disorder has disordered non-homologous end joining
ataxia telangactasia and fanconi anemia
61
DNA/RNA protein synthesis direction
DNA and RNA are both synthesized in the 5-3 direction.
62
what are the start codons
AUG
63
what are the stop codons
UGA, UAA, UAG
64
which is the DNA polymerase with 5'-3' activity
DNA polymerase I
65
what DNA polymerase has 5'-3' synthesis capability and 3'-5' exonucelase activity
DNA polymerase III
66
in eukaryotes, which polymerase makes the primer and starts it
DNA polymerase alpha
67
in eukaryotes, which polymerase is in charge of repair
DNA polymerase beta
68
in eukaryotes, which polymerase is in charge of the lagging strand
DNA polymerase delta
69
in eukaryotes which polymerase is in charge of the leading strand
DNA polymerase epsilon
70
in eukaryotes which polymerase is in charge of mitochondrial DNA
DNA polymerase gamma
71
what makes the RNA primer and is considered DNA dependent RNA polymerase
Primase
72
what is the other name for gyrase
topoisomerase II
73
what drugs block prokaryotic topoisomerase II and IV
fluoroquinolones
74
what drugs block eukaryotic topoisomerase II
etoposide and teniposide
75
what would a positive Tzanck smear show
multinucleated giant cells for HSV ulcer swabs
76
where are the scaphoid, lunate, and hamate
scaphoid is thumb side lunate is pinky side both are towards the radius and ulna. the hamate is articulate with the pinky above the pisiform and triquetrum, so it is diagnoal to the hamate.
77
what mutation causes cystic fibrosis
it is a deletion of phenylalanine at the F508 position and this disrupts the post-translational processing of the CF, and this makes the protein misfold so it is degraded through ubiquitination in the proteasome
78
what is the marker of infectivity in Hepatitis B
HbeAg
79
RNA polymerase I
rRNA
80
RNA polymerase II
mRNA
81
RNA polymerase III
tRNA
82
what anti fungal binds ergosterol and forms membrane pores that allow leakage of electrolyttes
amphoterecin B
83
what do you have to supplement with amphoterecin and why
Mg and K because it is nephrotoxic so you have to moniter
84
why does amphoterecin cause side effects
bind cholesterol some, which cause the side effects
85
what anti fungal binds ergosterol and forms pores that leak ions into the cell leading to lysis
nystatin
86
what is nystatin used for
swish and swallow for oral candidiasis and topical diaper rash and candidiasis
87
what antifingal inhibits DNA and RNA biosynthesis by conversion to 5-FU by cytosine deaminase
flucytosine
88
what is flucocytosine used for
systemic fungal infections in combination with amphoterecin B
89
what is the side effect flucocytosine
bone marrow suppression
90
what anti fungal stops ergosterol synthesis by inhibiting the cytochrome P450 system that converts lanosterol to ergosterol
azole
91
what are the use of the azoles
fluconazole is used for chronic suppression of cryptococcal meningitis and conduit. IRA is used for blast, cocciodes, and histoplasma
92
what are the adverse effects of ketoconazole
gynecomastia
93
what do the azoles to the P450 system
it inhibits it
94
what anti fungal inhibits the fungal enzyme squalene epoxidase
terbinaphine
95
what is terbinafine used for
it is used for dermatophytoses line onchomycocsis
96
what is the anti fungal with the MOA of stop fungal wall sythesis by decreasing the Beta d gluten synthesis
echinocandins that end in fungin
97
what do you use the echinocandins for
invasive aspergillosis and candida
98
what anti fungal inhibits microtubule function and disrupts mitosis
griseofulvin
99
what is griseofulvin used for
oral treatment of superficial infections, and it is used for dermatophytes
100
what does griseofulvin do the P450 system
it induces it
101
what is the most abundant AA in collagen
glycine
102
what is the vitamin C regulated step of collagen synthesis
hydroxylation reguires vitalin C and this is in the cytoplasm- this is the post-translation modification step
103
what parts of collagen sythesis are in the extracellular space
cleavage of the C and N terminals, and formation of cross links
104
what is the issue in collagen synthesis with OI and where does this step take place
the glycosilation step where the pro-a-chain hydroxylysine resumes and formation of pro collagen via hydrogen and disulfide bonds aka its a problem forming the triple helix which is in the cytosol
105
what is the issue in collagen synthesis with Ehlers Danlos and where does this step take place
it is a deficiency in the lysis oxidase which forms the bonds between tropocoagen or it is a deficiency in the pro collagen peptidase enzymes. This process is in the extracellular space
106
what is the issue in collagen synthesis with Menkes and where does this step take place
it is an X linked recessive CT tissue disease caused by impaired copper absorption and transport due to defective Mekes protein leading to the decreased activity of lysl oxides and copper is a necessary cofactor. Results are brittle kinky hair and growth retardation and hypotonia
107
what enzyme facilitates the cross linking of elastin in the extracellular matriz
it requries copper and it is lys oxidase
108
what is marfans a defect in
defective fibrin which coats the elastin
109
southern blot looks for
mutated DNA
110
what does a northern blot look for
MRNA levels reflective of gene expression
111
what does a western blot look for
increase gene transcription
112
what does a southwestern blot look for
DNA bingin proteins aka its looking for transcription factors
113
2 patients with NF1 have varying degrees of disease
variable expressivity
114
BRCA1 mutatiosn do not always result in cancer in everyone that has the gene
incomplete penetrance
115
untreated PKU results in light skin, intellectual disability, and musty odor- one gene does many things
pleiotropy
116
huntington seems to be getting worse with each generation
Anticipation
117
if there is just a mutation in one gene they don't get cancer but if there is two mutations then they do
loss of heterozygosity
118
a heterozygote produces a nonfunctional altered protein that also prevents he normal gene product from functioning
dominant negative mutation
119
tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance
linkage disequalibirum- the hardy wienburg numbers will not equal zero
120
presence of genetically distinct likes in the same individual
mosaicism
121
mutation aries from mitotic errors after fertilization and propagation through multiple tissues and organs
somatic mosaicism
122
mutation is only in the egg and sperm
gondal mosaicism
123
mutations in different loci can produce a similar phenotype- different locus same phenotype
locus heterogenetiy
124
different mutations in the same locus produce the same phenotype
allelic heterogenity
125
presence of both normal and mutated tDNA, resulting in variable expression in mitochondrially inheritted disease
heteroplasmy- mitochondrial disease like less severe in the mom worse in the boy. Ragged red fibers. Passes through the mom exclusively
126
off spring receives 2 copies of th chromosome for the one parent and no copires from the other.
uniparental disomy- it is only visible if one parent is a carrier and it gives the kid the disease because they both come from them
127
what is the frequency of an XR disease
males=Q and females = Q2
128
what is the formula for carrier frequency
2squareroot(disease prevelance)
129
only one allele is active and the other is inctve and with one allele inactive, the deletion of the active allele leads to disease. Methylation turns on and off the disease
imprinting
130
what is prayer Willi from
some are maternal uniparental disomy and most are the paternal gene is deleted and mom is silent
131
what is angel man from
gene from dad is silent and mom is deleted or both are dad from uniparental disomy
132
what is the disorder and deficiency- small child with peripheral neuropathy, angiokeratomas, telangactasia, hypohidrosis (decreased sweating), and renal failure, and left ventricular hypertrophy, TIA, stroke
Fabry, defiecint alpha galactosidase A and build up ceramide trihexoside
133
what is the disorder and deficiency- hepatosplenomegaly, pancytopenia, osteoporosis, aseptic encores of the femur, bone crises, and lipid filled macrophages resembling crumpled paper
Gaucher- glucocerebrosidase and beta glucosidase
134
what is the disorder and deficiency- progressive eurodegeration with hypotonia, and lipid laden macrophages, cherry spot on the macula, death by the age of 3
niemann Pick- sphingomyelinase and build up sphingomyelin
135
what is the disorder and deficiency- progressive neurodegeneration, developmental delay, cherry red spot on the macula, onion skin and no hepatomegaly
Hexoaminidase A and GM2 ganglioside builds up in Tay Sachs disease
136
what is the disorder and deficiency- peripheral neuropathy, development delay, and optic atrophy, globoid called and seizures
Krabbe disease- galacetocerebrosidase and build up galactocerebroside pschosine
137
what is the disorder and deficiency- central and peripheral demylination with ataxia and dementia
Metachormatic leukodystriphy with a deficiency of arylsulfatase
138
what is the disorder and deficiency- developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
hurler syndrome- alpha L-iduronidase- AR
139
what is the disorder and deficiency- mold hurlerwiht aggressive behavior and no corneal clouding
deficiency in iduronate sulfate- Hunter syndrome- XR
140
widespread thrombosis of graft vessels and ischemia/necrosis grade must be removed- mottling and arterial fibrinoid necrosis cap thrombus
hyperacute reactions
141
what does hyper acute reactions happen
pre-existing recepient antibodies react to the donor antigen (HSN2), activate complement
142
vasculitis of graft vessels with dense interstitial lymphocytic infiltrate.
acute transplant reaction- weeks to months
143
what cells mediate the acute transplant
CD*+ T cells activated against the donor mHC and this is a type IV HSN. Antibodies develop after the transplant
144
receptient T cells react and secrete cytokines and this creates vascular smooth muscle proliferation, and parnchymal atrophy, and interstitial fibrosis, dominant feature is arteriolosclesis
chronic transplant reaction which takes years
145
what mediates the damage on the chronic transplant rejection
CD4 t cells respond to APC on the donor peptides like allogenic MHC. have characteristics of both II and IV HSN
146
what are the features of chronic lung rejection
bronchiolitis obliterans- destroy the small ariways and they narrow
147
what are the features of chronic heart rejection
accelerated atherosclerosis
148
what are the features of chronic kidney rejection
vasculate obliteration and increased HTN, Cr, and fibrosis and intimal thinking and mononuclear infiltrate leading to tubular atrophy and intersitial fibrosis
149
what are the features of chronic liver rejection
vanishing bile duct syndrome
150
maculopaular rash, jaundice, diarrhea, hepatosplenomegaly- what type of rejection
graft vs host disease
151
what mediated GVHD
grafted immunocomputent T cells proliferate in the immunocompromised host and reject host cells with foreign proteins
152
what type of HSN is GVHD
type IV HSN
153
what transplanted organs can cause GVHD
liver and bone marrow
154
calcinuerin inhibitor binds cyclophilin and blocks T cell activation preventing IL2 transcription which suppresses the early T cell response
cyclosporine
155
what are the side effects of cyclosporine
nephrotoxicity which has a narrow TI and gingival hyperplasia and hirsuitism
156
binds FK506 binding protein and blcoks T cell activation by preventing IL2 transcription
tacrolimus
157
what is the major side effect of tacrolimus
nephrotoxic hirsuitism, and gingival hyperplasia
158
mTOR inhibitor binds to FKBP and blcosk T cell activation and B cell differentiation by preventing response to IL2
sirolimus
159
why would you use sirolimus over tacro or cyclosporine and what are the side effects
it is good for kidney, but can cause pancytopenia and insulin resistance and hyperlipidemia- can also be used on stents
160
monoclonal antibodies that block IL-2R
saclizumab and basiliximab
161
inhibits lymphocyte proliferation by blocking nucleotide syntehsis- antimetabolite precursor of 6 mercaptopurine
azzthioprine
162
what are the side effects of azothioprine
is degraded by xanthine oxidase so it is increasing toxic if used with xanthine oxidase inhibitors
163
what are the side effects of azothioprine
leukopenia, nameia, thrombocytopenia
164
reversibly inhibits the IMP dehydrogenase preventing the purine synthesis of B and T cells
mycophenolate mofetil
165
what is use of mycophenolate motel assocaited with
GI upset and invasive CMV infection
166
inhibit NF-KB and suppress both B and T cell function by decreases the transcription of major cytokines and induce apoptosis of T lymphocytes
corticosteroids
167
what lab value is obscured by corticosteroids
neutrophils are higher in the blood because there is decreased margination.
168
recurrent bacterial and enteroviral infections after six months- giardia infections and encapsulated infections- what is the disease and defect
defect in BTK gene which is a tyrosine kinase gene so no B cell maturaion and it is X linked recessive- Bruton aggammaglobulinemia- absence of B cell germinal centers and no IgG or B cells so low CD20 and low CD19
169
majority are asptomayic but have GI and airway infection and autoimmune issues- atopy and have anaphylaxis when there are blood products given- patient has celiac, recurrent sinopulmonary infections and giardia- what is the disease and defect
selective IgA deficieny- decreased IgA - anaphylaxis from lack of washed red blood cell products
170
defect in B cell differentiation in the 20-30s and increase risk of autoimmune disease, broncheistasis, lymphoma, and sinopulmonary infectiosn- what is the disease and defect
common variable immunodeficiencty- decreased plasma cells, immunoglobulins- defect in B cell differntiation
171
tetany, recurrent viral/fungal infetions, conotruncal abnormalities- what is the disease and defect
thymic aplasia- 22q11 deletion- decreased T cells decreased PTH, absent thyme shadow on CXR
172
disseminated mycobacterial infections and fungal infections may present after BCG vaccination- what is the disease and defect
IL-12 receptor deficienct- macrophage infected wit hTB and secretes IL12 and cannot secrete IFNgamma- AR so decreased TH1 response
173
coarse face, cold staph abscesses, retained primary teeth, increased IgE, and dermatologic problems- what is the disease and defect
autosomal dominat hyper-IgE syndrome- increased IgE and decreased IFN gamma. deficiency of Th17 cells due to STAT3 mutation, impaired recruitment of neutrophils to the sites of infection
174
noninvasive candida albincans of the skin and mucosa membranes-- what is the disease and defect
chronic mucocutaneous candidiasis- T cell dysfunction. Absent T cell proliferation in the face of candida skin test
175
failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial ,fungal and protozoal infections like PJP, and absent thymus- what is the disease and defect
SCId- defective IL2R gamma chain and adenosine deaminase deficiency- decreased T cell receptor excision vehicles- lymphopenia, and hypogammaglobulinemia
176
cerebellar defects, atazia, spider angiomas, telangaiectasia, IgA deficiency- what is the disease and defect
increased AFP, and decreased IgA, IgG, and IgE, and lymphopenia and cerebellar atrophy- defects in ATM gene so cannot repair double stranded DNA breaks
177
severe pyogenic infections early in life- pneumocystis, cryptosporidium, and CMV-- what is the disease and defect
increased IgM and decrease all others, due to defective CD40 L on Th cells and class switching defect XR- hyper IgM
178
thrombocytopenia, eczema, recurrent infections and increased risk of autoimmune - what is the disease and defect
mutation in WAS gene- T cells can't reorganize actin skeleton
179
recurrent bacterial skin and mucosal infections- absent pus formation, delayed wound healing, and delayed separation of the umbilical cord- what is the disease and defect
leukocyte adhesion deficiency- defect in LFA-1 intergrin CD18 proetin on phagocytes, imparied migration and chemotaxis AR- absecense of neurtrophils in the infection site
180
recurrent pygenic infections by staphylococci and streptococci, partial albinsim, peripheral neuropathy, progressive neurodegeneratio, infiltrative lymphohistocytosis- what is the disease and defect
Chediak-Higashi syndrome- defect in lysosomal trafficking regulator gene, microtubules dysfunction in phagolysosome fusion and AR- giant granules
181
increased catalase positive organism infections with abnormal nitroblue test and abnormal dihydrorhodamine test
chronic granulomatosis dissease- defective NAPDH oxidase
182
what is the congenital infection causing arthritis in the mom and then sensorineural deafness in the child and cataracts and PDA
rubella- togavirus
183
Cough coryza, conjunctivitis
rubeola-measles
184
what has hemagluttin besides influenza
measles
185
what bacteria is optochin resistant or bile acid soluble
strep viridans
186
what bacteria is optochin sensitive and bille acid soluble
strep pneumoniae
187
bacitracin sensitive and PYR sensitive
strep pyogenes
188
bactracin resistant and PYR resistant
strep agalactiae
189
coagulase positive
staph aureus
190
coagulase negative
staph saprophyticus, staph epidermidis
191
novobiocin sensitive and coagulase negative
staph epidermidis
192
novobiocin restant and coag negative
staph saprophyticus
193
what does protein A do for staph aureus
it cleaves the FcIgG at the complement binding site to decrease the C3b and other complement levels
194
what is the normal nondisjunction pattern for Down Syndrome
Meiosis I
195
contracted scar on MI- when was this MI and what are the associated complications
2 weeks to several months- Dresselr synsrome, HF, arrthymias, true ventricular aneurysm risk of mural thrombsis
196
extensive coagulative necrosis and striations. Tissue surrounding infarct shows acute inflammation with neutrophils- when was this MI and what are the associated complications
1-3 days- post infarction fibrosis pericarditis
197
no change after MI
0-4 hours
198
myocyte hypereosinophilia with pyknotic nucleiI- when was this MI and what are the associated complications
12-24 hours- ventricular arrhythmia nd cariogenic shock
199
why does reperfusion injury occur
it is because of the generation of free radicals leads to hyper contraction of myofibrils through increased free calcium influx and the free radicals cause membrane lipid peroxidation
200
wavy myocardial fibers and long myocardium I- when was this MI and what are the associated complications
4-12 hours after MI and cariogenic shock and arrhythmias
201
disintegration of dead neutrophil and myofibers with macrophages at the edgesI- when was this MI and what are the associated complications
3-7 days and free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm
202
robust phagocytosis and granulation tissue with yellow dot lesionI- when was this MI and what are the associated complications
7-10 days after MI free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm
203
granulomatous lesion and neovascularization- when was this MI and what are the associated complications
10-14 days free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm
204
which is the insulin dependent glucose transporter
GLUT4
205
what is the RBC, brain corner, glut transporter
GLUT1
206
what glut transporter is on beta islet cells and liver kidney and small intestine
GLUT 2
207
what glut transporter is on the brain and placenta
GLUT3
208
what glut transporter is for fructorse
GLUT5
209
where does insulin bind
internal tyrosine kinase inhibitor
210
what uses the JAK state pathway
Gh, epo, and interferon attenuate the JAD state
211
what does epidermal growth factor work through
transmembrane recpetors that have internal tyrosine kinase fdomaines
212
what do TSH, glucagon and PTH act throguh
protien kinase A.Gs receptor
213
how does glucagon act
it acts through Gs and it increases cAMP and acts on protein kinase A which phosphorylates serine/threonine residues to activate or deactivate it
214
what shoulder muscle does abduction
supraspinatus
215
what shoulder muscle laterally rotates the arm- external rotation
infraspinatus and teres minor
216
what muscle laterally rotates the arm and adducts it
teres minor
217
what muscle adducts and internally rotates the arm
subscapularis
218
fracture of the surgical neck of the humerus
axillary necer injury with the circumflex artery- has flat deltoid and loss of sensation of the deltoid
219
pitching injury- loss of forearm flexion and supination and decreased sensation over lateral arm
musculocutaneous nerve
220
midshaft fracture of the humerus compression of the axilla on the chair or crutches.
radial nerve injury- loss of wrist extension, and decreased grip strength lose sensation over the posterior part of the arm
221
supracondylar fracture of the humerus, carpal tunnel syndrome and wrist laceration
median nerve- loss of wrist flexion, flexion of lateral fingers, thumb opposition, lumbricals of 2-3 digits, and loss of sensation over thinner eminence and dorsal and palmar aspects of lateral 3 fingers and proximal lesion
222
fracture of medial epicondyle of humerus fractured hamate
ulnar nerve- radial deviation of the wrist upon flexion. loss of wrist flexion, flexion of medial fibers, no abduction of the fingers and loss of sensation over the medial fingers
223
superficial laceration of the palm
recurrent branch of the median nerve- loss of some thumb stuff
224
lateral traction on neck during delivery and adult trauma
abduction, lateral rotation, felxion, supination is the deficiet- upper roots so waiters tip hand
225
infants upwards force on arm during delivery, and trauma of grabbing tree branch
lower C8-T1- total claw hand with lumbricals are normal
226
lower trunk and subclavian vessels- repetitive overhead, cervical rib\, pan coast tumor
atrophy of hand muscles and ischemia and pain and edema from vascular compression
227
winged scapular- pushed on wall, mastectomy and serrates anterior
C5-C7- at the 4-5 midaxillary line- inability to anchor scapula to thoracic, cage- abduct arm above horizonal
228
hip surgery injury
obturatory nerve- decreased adduction, and medial thigh sensation
229
pelvic fracture
femoral nerve- can be compressed by posts tumor- thigh flexion and leg extension
230
trauma to the fibular neck or compression of lateral aspect of the leg
common peroneal- stoppage gate and lose dorsal feelsing on the foot and ut everts
231
knee trauma, baker cyst tarsal tunnel syndrome, penetrating wound ot the back of the knee
tibial- inability to curl toes and loss of sensation to the sole of the foot. foot everted from loss of eversion and plantar flexion (plantar flexion is pointing)
232
iatrogenic injury during intramuscular injection to upper medial gluteal region
superior gluteal- trendelenburg sign/gait- drop hip is good side
233
posterior hip dislocation
inferior gluteal- difficulty climning stairs and rising from chairs
234
osmotic diuretic that is used for increased intracranial pressure or intraocular pressure
mannitol
235
what is the adverse effects of mannitol
pulmonary edema, dehydration, and anuria, HF
236
what is the MOA of acetazolamide, adverse effects and clinical use
carbonic anhyrdase inhibitor- self limited diuresis decreases bicarb. used for glaucoma, alkinize the urine, metabolic alkalosis, altitude sickness, pseudo tumor cerebra- closed glaucoma
237
what is the MOA of furosemide, bumetanide, torseomide, adverse effects and clinical use
inhibit cotransport system Na/Cl/K- thick ascending limb of loop abolish hypertonicit of medulla preventing concentration of the urine. stimulate PGE release and vasodilation- increased Ca excretion. ototoxic and hypokalemia, allergy sulfa, metabolic alkalosis, nepotist and gout
238
what is the MOA of ethacrynic, adverse effects and clinical use
loop for people with sulfa allergy more ototoxic
239
what is the MOA of HCTZ, chrolathalodone, metalazone, imatompaide adverse effects and clinical use
inhibit NaCl in the reabsorption in early DCT, and decreased dilution of the nephron and decreased Ca excretion. HTN essential. use in nDI. decreased K, metabolic alkalosis, decreased Na, hyperglycemia, hyperlipidemia, hyperuricemia, and hypercalcemia, and sulfa allergy.
240
what are the blood panel for HCTZ like
increased Ca, uric acid, increased glucose, increased cholesterol, increase Tg, decrease Na, and decreased K, and decreased Mg
241
what is the MOA of spirolactone, epleronone, triametrene, amiloride, adverse effects and clinical use
aldosterone receptor antagonist and it is in the CT. Triametrene and amiloride act ads the same part of the tubule. Used for hepatic accused. Hyperkalmia can lead to arrhythmias, endocrine effects with spiroclactone and gynecomastia anti androgen
242
what is amiloride specifically used for
nDI
243
what is spirolactone used for
hepatic ascites
244
what are the class IA
quinidine, procainamide, disopyramide,
245
what is the MOA of class IA
increased AP duration, increased effective refractory period, increased QT interval
246
what are the side effects of class IA
cinchonism (headache, tinnitus), reversible SLE, heart failure, tornadoes, increase QT, thrombocytopenia
247
which class IA antiarryhtmic SLE syndrome
procainamide
248
which class IA antiarrthymic heart failure
disopyramide
249
what are the class IB
lidocaine, mexiletine
250
what are the class IB MOA
decreased AP duration, affection ischemic or depolarized Purkinje and ventricular issue.
251
what are the class IB adverse effects
CNS stimualtion and depression, cardiac depression
252
what is the use of class IB anti-arrythmics
used for post MI because they are weak binding and preferentially target the ischemic tissue
253
what ar the class IC antiarrythmics
flecainide, propafenone
254
what is the MOA for class IC antiarryhtmics
strongest binding to terminate tach abd ut us ERP and AV node. minimal effect of AP duration
255
what are class IC adverse effects
proarryhtmic, especially post MI
256
what is the MOA of beta blocker antiarryhtmics
decrease SA and aV nodal action by decreasing cAMP and decreasing Ca currently . they suppress the abnormal pacemakers by decreasing the slope of phase 4
257
adverse effects of beta blockers as anti-arryhtmics
it is impotence, COPD exacerbation, cardiovascular effects of bradycardia, AC block, HFF, sedation, mask hypoglycemia
258
what beta blocker can exacerbate prinzemetal angia
it is propanolol
259
what is the treatment for beta blcoker
glucagon, saline, atropine
260
what are the class III anti-arryhtmics
amiodarone, ibutilide, dofetilide, sotalol
261
what are the mechanism of class III antiarryhtmics
it is a k channel blocker so it has increased a fib, atrial fluteer, and ventricular tachycardia
262
what are the adverse effect of to stall and ibutilide
torsades
263
what are adverse effects of amiodorone
pulmonary dibrosis, hepatotoxic, hypothyroid/hyperthyroid, it can cause corneal deposits, grey skin, photdermatitis, brady cardia, heart block, can cause destructive thyroiditis
264
what are the antibodies for ITP
anti-GpIIb/IIIA antibodes with splenic macrophage of the antigen, antibody complexes from viral illness
265
what is the antibody in TTP
it is inhibition of ADAMSTS13 and this leads to decreased degradation of vWF muleteers and this leads to increased platelet adhesion and increased platelet aggregation and thrombosis. schisotxytes and increased LDH- pentad of fever, thrombocytopmenia nand microangiopathic hemolytic anemia
266
what is the fibrinogen level with DIC
it is decreased
267
night sweats, fever, weight loss, and associated with EBV, bimodal distribution- localized to a single group of nodes- RS cells
Hodgekin Lymphoma
268
what is the most predictive of the prognosis of the hodgkin lymphoma
it is staging
269
what are the markers on RS cells
CD15 and CD30
270
starry sky appearance, sheet of lymphocytes with interspersed body macrophages
burkitt lymphoma with activating myc mutation- 8;14
271
where is the endemic form of Burkitt located
jaw
272
where is the sporadic form of Burkitt in the body
it is in the abdomen
273
what is the most common type of non-hodgkin lymphoma in adults
it is diffuse large B cell lymphoma
274
painless waxing and waning lymphadenopathy with follicles and small cleaveed cells, large cells, and mixture
follocular lymphoma- 14;18
275
very aggressive with late-stage disease lymphoma- adult male
mantle cell0 11;14 and D cyclin heavy chain Ig
276
AIDs defining illness with confusion, memory loss, seizures- mass lesion on MRI can look similar to toxoplasmosis
primary CNS lymphoma
277
adults with cuteness lesions from Japan, west Africa, Caribbean, lytic bone lesions, hypercalcimia associated with HTLV and IV drug abuse
adult T cell lymphoma
278
myocsis fungoides present with skin patches and plaques and cutaneous with atypical CD4 cells and cribriform nuclei may go to Sezary
myocosis fungoides and Sezary
279
children with mediastinal with SVC like syndrome. Associated with down syndrome, and increased peripheral blood and bone marrow lymphoblasts. TDT positive marker and CD10 positive. 12;21
acute lymphoblastic leukemia/lymphoma
280
age>60 most markers are Cd20, Cd5 B cell neoplasm. Asymptomatic progress to smudge cells with autoimmune hemolytic anemia.
chronci lymphocytic leukemia/small cell
| small cell can go to diffuse large B cell lymphoma
281
adule male with a dry tap on aspiration and massive splenomegaly- pancytopenia and TRAP positive
hairy cell leukemia- mature B cell tumor with fuzzy cells and TRAP+
282
persistnt infection, coagulopathy, hemorrhage, auer rods in BM, and DIC and decreased fibrinogen- patient is around 65 years old
AML t15;17-
283
what are the risk factors for AML
alkylating chemotherapy, radiation, myeloproliferativve disorders and down syndrome
284
what can you treat AML with
all transretionic acid if there is the APL subtype with the t15;17
285
peak around 64 years off and has the t9;22- myeloid stem cell proliferation, and dysregulated production of mature and maturing granulocytes like neutrophils, metamyelocytes, myelocytes, basophils, and splemomegaly, and very low LAP
CML
286
what is the medical treatment for CML
bcr-abl tyrosine kinase inhibitors like imatinib
287
what is the hormone levels for Klinefelters
increased LH and increased FSH and decreased T but high estrogen. The dysgenesis of the seminiferous tubules decreases the inhibit B and increased FSH, and Leydig cells decrease T and increase LH and increased estrogen
288
what is the hormone profile for Turner Syndrome
increased LH and FSH and decreased estrogen
289
inability to synthesize estrogens form androgens so masculinization of female infants, increased testosterone and androsteindione, and presents with maternal virilization
placental aromatase deficiency
290
normal appearing female with female external genitalia and scant sexual hair, and rudimentary vagina, uterus, and fallopian tubes are absent. Normal testes are in the labia
androgen insensitivty syndrome
291
AR and inability to convert testosterone to DHt and ambigous genitalia until puberty then becomes virilized- Lh is normal to increased and T is noraml
5alpha reductase deficiency
292
hypogonadotropic hypogonasdism. defective migration of GnRH cells and formation of the olfactory bulb. decreased synthesis of GNRH in the hypothalamus and anosmia, and decreased GNRH, FSH, LH, T infertility and amenorrhea. can have cleft lip and plate
Kallaman syndrome
293
what is the path of LH and FSh in the ovary
the LH stimulates the theca internal cells and this causes cholesterol to androgens by desomolase and the androgens diffuse to the granulosa cells and the granulosa cells turn the androgens to estrogen by aromatase
294
what is the path of LH and FSH in the teste
the SRY gene makes testis determining factor and testes, and it causes the sertoli cells to secrete mullein inhibitory factor and this degenerates the paramesonephric ducts which is the female internal genitalia. The Testis determining factor hits the Leydig cells and the Leydig cells secrete Testosterone and this causes the wolfing duct to form the internal genitalia besides the prostate. and this Testosterone is turned into DHT by aromatase and the genital tuberclee and urogenital sinus are turned into the male external genitalia and prostate by the DHT
295
vomiting, vertigo, nystagmus, decreased pain and temperature from the ipsilateral side of the face and contralateral side of the boy. dysphagia and hoarseness and decreased gag reflex and ipsilateral horner syndrome, and ataxia, dysmetria- where is the lesion and what is the artery
Lateral medullary syndrome- PICA which is off the vertebral artery
296
dysphagia, dystonia, dysarthria, contralateral spastic hemiparesis and CN III so the eye is down and out- where is the lesion and what is the artery
Weber syndrome which is the anterior midbrain infarct from occlusion of paramedic branches of the posterior cerebral artery
297
contralateral paralysis and sensory loss of the lower limb can have some urinary incontinence- where is the lesion and what is the artery
it is in the anterior cerebral artery
298
contralateral paralysis and sensory loss and face and body- absence of cortical signs- in the middle towards the basal ganglia and it causes a midline shift
lenticulostriate artery
299
what artery is infarcted for the preserved consciousness, vertical eye movement, blinking, quadripledia, loss of voluntary facial mouth and tongue- locked in
basilar artery
300
what artery infarct causes contralateral hemianopia with macular sparing
posterior cerebral artery
301
what artery is infarcted if there is contralateral parestheisas and numbers of the legs and trunk and can't recognize faces
psoterior cerebellar
302
vominting, vertigo nystagmus, paralysis of the face, decreased lacrimation, decreased salvation, and decreased laste from the back of the tongue, loss of pain and temperature of the face ipsilateral, and contralateral pain and temperature of the body, ataxia and dysmetria
AICA lesions from lateral pontine lesion
303
what passes through the jugular foramen
IX,X, VI so loss of posterior take, dysphagia, and SCM issue
304
what passes through the superior orbiatal fissure
C1, IV, III, VI
305
what can cause bells palsy
lyme, isiopathy, HSV, AIDs, sarcoid, tumor, DM
306
what is the order of the cavernous sinus nerves along the side
III, IV, VI(beside the artery), V1, V2
307
what is the lesion for full one eye loss of vision
loss of optic nerve
308
bitemporal hemianopia
pituitary lesion that is at the optic chiasm
309
what is left homonymous hemianopia (only have left halves of the vision)
it is from a lesion of the optic tract which can be aneurysm of the carotid
310
what is left upper quadrant anopia
right temporal lesion
311
what is left lower quadrant anopia
right partial lesion
312
left hemianopia with macular sparing- los left side of the vision but have the middle spared
PCA infarct
313
central scotoma
macular degeneration
314
where does Meyers loop run
through the temporal lobe
315
diabetic CNIII damage
it has acute diplopia and down and out from ischemic damage at the core with outside spared so pupil reaction and size is normal
316
compression of CNIII damage
peripheral is hit first so you get loss of reactivity first
317
what does vitamin A do
it is the antioxidant and essential for normal differentiation of epithelial cells into specialized tissue like pancreatic cells prevents the squamous metaplasia
318
what is vitamin A used to treat
measles and AML M3
319
night blindness, dry scaly skin, corneal degeneration, and bitot spots on conjunctia and immunosuppression
vitamin A
320
what are the symptoms of acute toxic vitamin A
nausea, committing, vertigo and blurred vision
321
what are the symptoms of chronic toxic vitamin A
alopecia, dry skin, hepatic toxin, enlargement arthralgiasn ad psudotumor cerebri
322
what reactions use B1 or thiamine
pyruvate dehydrogenase, alpha ketoglutarate dehydrogenas,e trankeloase, branche chain ketoacid dehydrogenase
323
dry beriberi
polyneutrisi, symmetrical muscle wasting
324
wet beriberi
high output cardiac failure, dilated cardiomyopathy, edema
325
werknicke korsakoff syndrome
confsions, opthalmoplegia, atazia, and confabulation, personalilty change, memroy loss from mamarrary body destruction
326
what reaction use B2 or riboflavin
FAD and FMN are used for succinate dehydrogenase
327
what is the deficiency- chelosis inflammation of the issues are corners of mouth and corneal vascularization
B2 riboflavin
328
what reactions use niacin
constituent of NAD+and Nadh reactions and so its synthesis requires B2 and B6. used t treat high colesterol
329
glossitis, diarrhea, dementia, dermatitis, hyper pigmentation of sun exposed limbs
Pellagra- niacin deficiency
330
what is niacin derived from
tryptophan
331
Hartnup disase
deficiency of amino acid transporters that are in the PCT and enterocytes so decreased tryptophan conversion to niacin from the diet
332
what are the symptoms of excess niacin
it is flushing from prostaglandin can be avoided by taking aspirin. also get hyperglycemia and hyperuricemia
333
what is the function of B5 panothenic acid
component of Coenzyme A and Coa for cofactor for acyl transfers and fatty acid synthase
334
dermatitis, enteritits, alopecia, adrenal insufficiency- deficiency of what
deficiency in B5
335
what is the function of pyridoxine B6
converted to pyridoxal phosphate used for transamination reactions ALT and aST and decaroboxylation reaction glycogen phosphorylase. Synthesis of cystathione, heme, niacin, histamine, neurotransmitters like serotonin, epinephrine, NE, dopamine, GABA- example reaction would be oxaloacetate to aspartate
336
convulsions, hyperirritability, peripheral neuroptathy, siderobalstic anemia from impairs hemoglobin synthesis and iron excess- deficiency of what and what can cause it
B6 pyridoxine and isoniazid and oral contraceptives
337
what reactions use B7 biotin
cofactors for carboxylation reactions like pyruvate carboxylase purvate to oxaloacetate, acetyl Coa carboxylase and acetyl coa to malonyl coa, propinoyl coa carboxylase and propinolyl coa to methylmalonyl Coa
338
dermatitis, alopecia, enteritis, and metabolic acidosis-deficiency of what and what can cause it
caused by antibiotic use, excessive ingestion of raw egg whites
339
what reactions use B9/folate
converted to THF a coenzyme for 1 carbon tranfer/methylation reactions. Important for synthesis of nitrogenous bases in DNA and RNA
340
where is folate absorbed
jejunum
341
macrocytic anemia of alcoholics or pregnant with PMNS, and increased homocysteine but normal methylmalonic acid levels
folic acid deficiency
342
what drugs can cause folate deficiency
phenytoin, sulfonamides, methotrexate
343
what is the function of B12
cofactor for methionine synthase tankers Ch3 to methamoul coa
344
macrocytic megalobalastic anemia, PMN, parasthesias, subacute combined degeneration of corticospinal tracts, spinocerebellar tracts due to abrnoaml myelin increased homocysteine and methylmalonic acid increass
B12 deficiency
345
what is b12 synthesized by and for how long
it is from the microorganism there is a large pool in the liver. Malabortion like sprue, enteritis, diphyllobaothrium, and lack of intrinsic factor from pernicious anemia or gastric bypass with abescence of terminal ileum like surface resection from Corns, insufficient inmate from vegans
346
what is the function of vitamin C
it is an antioxidant that facilitates iron absorption by reducing it to Fe state. Necessary for hydroxylation of proline and lysine in collagen synthesis. Necessary for dopamine Beta hydroxylate and converts dopamine to Ne
347
swollen gyms, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair weak immune system
vitamin C deficiency
348
nausea, vomiting, diarrhea, fatigue, Ca oxalate nephrolithiasis, increased risk of iron toxicity
vitamin C excess
349
whats the function of vitamin D
it increases intestinal absopriton of calcium and phosphate and increased bone mineralization at low levels and bone respiration at higher levels
350
what is the function of vitamin E or tocopherol/tocotrienol
antioxidant that protects RBCSand membranes from free radical damage
351
hemolytic anemia, aconthocytosis, muscle weakness, posterior collumn and spinocelerbellar degeneration but no megaloblastic anemia
vitamin E deficiency
352
what is the function of vitamin K
it is cofactor for the gamma carboxylation of glutamic acid residues on various proteins required for blood clottign
353
where is vitamin K synthesized
intestinal flora
354
what clotting factors require vitamin K
II,VII,IX,X,protein C and protein S
355
neonatal hemorrhage with increased PT and increase PTT but normal bleeding time
neonates cannot synthesize vitamin K and can occur with long term broad spectrum and from terminal ileum like crohsn
356
why do babies get vitamin K deficiency
it is because there is no vitamin K in breast milk and their guts are sterile
357
what is the function of zinc
it is a mineral essential for lots of enzymes and the zinc finger
358
what is zinc def cause
it accuses delayed wound healing, hypogonadism, decreased adult hair, dysgerusia, anosmia and acrodermatitis- predispsositon to alcoholic cirrhosis
359
what is the difference between kwashiorkor and marasmus
kwashiorkor is protein malnutrition and marasmus is total starvation
360
what are the long acting insulins
glargin and deremir
361
what are the rapid insulins
apart, lisper, glulisine
362
what is the mOA of metformin
decreased gluconeogenesis, increased glycolysis, increased peripheral glucose uptake
363
what are the SE of metformin
GI upst, lactic acidosis so contraindicated in renal failure
364
what are the first generation and second generation sulfonylureas
first gen- cholpropamide, tolbutamide
| second gen- glimepride, glipizide, glyburide- the second genration tesnds to be longer acting so increased hypoglycemia
365
what is the MOA of sulfonylureas
close the K channel in the B cell to depolarizes cell and insulin release via increased CA influx so increased insulin release
366
what are the major side effects of sulfonylureas
hypoglycemia when working out increased in renal failure and fatigue, and also increased with disulfiram reactions in first generation. the second generation have higher risk of hypoglycemia
367
what is the mechanism of action of glitazone
increased insulin sensitivity in peripheral tissue because it binds the PPAr gamma and upregualtes the GLUt 4 and adiponectin
368
what are the side effects of glitazones
it is fluid rendition form the increase Na reabostion and can lead to increased adipose and exacerbation of HF
369
what is the MOA of the meglitidines, glinides
it is to stimulate postprandial insulin release by binding K channels on the beta cell membanresns work at membrane ion channels
370
what are the major side effects of glinides
weight gain and hypoglycemia
371
exanatide and liraglutide MOA- GLP1 analogs
increased glucose depennt insulin release and decreased glucagon release and decreased gastric emptying and increased satiety
372
what are the side effects GLP-1 analogs:exanatide and liraglutide
nausea, vomitting, pancreatitis, modest weight lsos
373
what is the MOA of the DDP4 inhibitors- gliptin
inhibits DPP-4 enzyme that deactivates GLP1 thereby increased glucose dependent insulin release and decreased glucagon release and decrease gastric emptying and increased satiety
374
what are the SE of DDP4 inhibitors- gliptin
mild urinary or repiratory infections and weight is neutral
375
Moa of prmalinitide
decreased gastric emptying and decreased glucagon
376
what is the MOA of the flozins
they block SGLT2 in the kidney
377
what are the SE of the flozins
they can cause glucosurai, UTIs, vaginal yeast infections, hyperkalemia, dehydration, orthostatic hypotension, and avoid with bad kidneys and so look at BUN and CR before starting
378
what is the MOA of acarbose miglitol
inhibit intestinal brush border aha glucosidases. Delayed carbohydrate hydrolysis and glucose absorption and decreased postprandial hyperglycemia
379
increase hematocrit- increased itching after hot shower, sever burning pain and red blue coloration with episodic blood clots in vessels and extremtites
polycythemia vera
380
massive proliferation of megakaryotctes, platelets, and bleeding with thrombosis, large number of platelets and large or aborally formed
essential thrombocythemia
381
obliteration of the bone marrow with fibrosis and due to increased fibroblast activity with massive splenomegaly and teardrop RBC
myelofibrosis
382
what are the chronic myeloproliferative disorders and what mutation are they associated with
JAK-STAT mutation and they are polycythemia, essential thrombocythemia, and myelofibrosis
383
heparin MOA
lowers the activity of thrombin and factor Xa
384
heparin side effects
bleeding, thrombocytopenia, osteoporsis, drug drug interactions.
385
enoxaparin, dalterparin, and fondapirinux MOA
act more on factor Xa, have a better bioavailability and 2-4 longer half life can be administered SC.
386
heparin induce thrombocytopenia
development of IgG antibodies against hepatic-bound platelet factor. antibody heparin PF4 complex activates platelets and thrombosis and thrombocytopenia
387
how to treat heparin induce thrombocytopenia
argatraban
388
what is bivalirudin what is the mOA
it is a direct thrombin inhibitor
389
what is the SE of bivalirudin
bleeding
390
what is the MOA of warfacrin
it interferes with gamma carboxylation of vitamin K depend clotting factors.
391
what enzyme is responsible for the metabolism of warfarin
VKOR
392
what effect does warfarin have on lab bleeding tests
it is PT
393
what is the SE of warfarin
it is bleeding, teratogenic, skin/tissue necroses, drug drug interactions.
394
what factors have a shorter half life and what is the effect with warfarin
C and S have shorter half life so there is early hyper coagulability wit hwardain so there can be tissue necroses in the early days of it and small vessel microthrombosis
395
what lab measurement is used for heparin
it is PTT
396
apixaban and rivaroxaban- MOA and what is it used for
binds to and directly inhibits factor Xa- and treatment and prophylaxis for DVt and PE
397
what is apixaban and rivaroxaban SE
bleeding- no reversal agent
398
what is the MOA from thrombolytics and use
direcelty or indirectly aid in the conversion of plasminogen to plasmas which cleaves thrombin and fibrin clots. Increased PT and PTT. It is used for early MIA and early ischemic stroke, direct thrombolysis of PE
399
what are the adverse effects of thrombolytics and contraindications
beleding, contraindicated with active bleeding,gg history of intracranial bleeding, recent surgery, known bleeding diatheses, severe hypertension.
400
what are the thrombolytics
alteplase, reteplase, streptokinase, tenecteplase
401
clopidogrel, prasugrel, ticagrelor, ticlopidine0 MOA
inhibit platelet aggregation by irreversibley blocking ADP receptors. Prevent expression of glycoprotein IIb/IIIa on platelet surface. Irreceribly blood of P2gamma12 of ADP so prevent platelet aggregation
402
what are the ACP receptor blockers
clopidogrel, prasugrel, ticagrelor, ticlopidine0
403
side effects of clopidogrel, prasugrel, ticagrelor, ticlopidine0
neutropenia, and TTP
404
cilostazole, dipyridamole MOA
reduced platelet activation by inhibiting phosphodiesteras III and it vasodilator for good claudication- PAD- increased CAMP in the cells
405
cilostazole, dipyridamole SE
nausea, headache, facial flushing ,hypotension, abdominal pain
406
abciximab, eptifibatide, tirofiban-MOA
bind to glycoprotein receptor IIb/IIIa on activated platelets, preventing aggregation,
407
abciximab, eptifibatide, tirofiban- SE
bleeding and thrombocytopenia
408
purine thiol analogs that decreases denote purine synthesis and activated HGPRT
azothioprine- 6MP
409
what are the adverse effects of azothioprine and 6MP
myelosuppression, GI, liver, metabolized by xanthine oxidase which increased toxicity if blocked by allopurinol or febuxostate
410
cladribine MOA
prune analog with multiple mechanisms like inhibitor of DNA polymerase
411
what are the SE of cladribine
myellosuppression, neurotoxicity, nephrotocitiy
412
cytarabine- arabinofuranosyl MOA
pyramidine analog and inhibitor of DNA polymerase
413
cytarabine- arabinofuranosyl SE
myelosuppresion with megaloblastic anemia and pancytopenia
414
5FU MOA
pyrimidine analog bioactivated to 5FDUMP, which covalently complexes folic acid. This inhibits thymbdilate synthase
415
what happens if 5FU is combined with leucovorin
effects are enhanced by leukovorin
416
what is the mOA of methotrexate
folic acid analog that competitively inhibits dihydrofolate reductase and decreased dTMP and decreased DNA synthesis
417
what happens with methotrexate and leucovorin
it is reverse
418
what are the se of methotrxate
mucositits so ulvers, pulmonary fibrosis, myelosupppression, hepatotoxic
419
what is the MOA of bleomycin
induces free radical formation which breaks DNA
420
what are the SE of belomycin
pulmonary fibrosis, skin hyper pigmentation, minimal myelosuppression
421
what is the mOA of dactinomycin
intercalates DNA
422
what are the SE of dactinomycin
myelosuppression
423
what is the moa of doxorubicin, daunorubicin
it generates free radicals, intercalate in DNA and breaks in DNA, and decreased replication
424
what is the SE of doxorubicin, daunorubicin
cardiotoxic and myelsuppression and allopecia
425
what do you add to daunorubicin to prevent cardiotoxicity
dexrazoxane
426
busulfan MOA
cross links DNA
427
what is the SE of busulfan
severe myelosuppression and pulmonary fibrosis
428
what is the MOA of cyclophosphamide and ifofasmide
cross like DNA at guanine N7 needs to activated by the river screws up DNA replication
429
what are the SE of cyclophosphamide and ifofasmide
myelosuppression, hemorrhagic cystitis, prevent with mensa and NAC
430
nitrosureas are which ones
carmustine, lomustine, semustine, streptozocin
431
what is the mOA of nitrosureas
require bioactivation and cross the BBB, cross link DNA
432
what is the SE for nitrosureas
CNS toxicity, convulsions, diziness, ataxia
433
paclitaxel, and other taxols MOA
hyperstabailze polymerized microtubules in M phase so that mitotic spindle cannot break down so anaphase cannot occur
434
paclitaxel, and other taxols SE
myelosuppression, neuropathy, hyerpsensitivity
435
vincristine, vinblastine MOA
vinca alkaloids that bind Beta tubular and inhibit its polymerization into microtubules and prevent mitotic spindle formation
436
vincristine, vinblastine SE
neurotoxicity and areflexia, peipheral neuritits, constipation and paralytic ileus
437
cisplatin MOA
cross link DNA
438
cisplatin SE
nephrotoxic, peipheral neuropathy, ototoxicity, prevent nephrotoxicity with amifostine and chloride
439
why does cisplatin cause hearing loss
damage to the organ of Corti
440
MOA of etoposide, teniposide
inhiits topoisomerase II and increased DNA degradation, and same Moa as podopyllin
441
etoposide and teniposide SE
myelosuppression and alopecia
442
irinotecan, topotecan MOA
inhibit topisomerase I and prevent DNa unwinding and replication
443
irinotecan, topotecan SE
severe myelosuppression diarrhea
444
hydroxyurea MOA
inhibit ribonucelotide reducatase and decrease DNA synthesis and s phase specific
445
what does hydroxyurea also do
increase HbF which is good for sickle cell
446
Moa of prednisone
intracytoplasmic binding of steroid receptor and alter gene transcription
447
MOA of bevacizumab
monoclonal antibody against VEGF inhibits angiogenesis
448
bevacizumab SE
hemorrhage, blood clots, impaired wound healing
449
erlotinib MOA
EGGFR kinase inhibit
450
cetuximab
monoclonal against EGFR
451
imatinib MOA and SE
tyrosine kinase inhibitor BCR able and ckit and it causes fluid retention
452
rituximab MOA and SE
it is a monclonal antibody against CD20 for good for B cell neoplasms and increased risk of PML
453
tamoxifen and raloxifene MOA
SERM and receptor antagonist for the breast and agonist for the bone block binding to ER positive cells
454
side effects of tamoxifen
partial agonist in endometrium which increases the risk of endometrial cancer and hot flashes
455
side of aloxifene
no increase risk of endometrial cancer and it is estrogen receptor antagonist at breast and endometrium and can treat/prevent osteoporosis
456
Trastuzumab herceptin
monoclonal antibody agaist HEr2 which is a tyrosine kinase receptor
457
what is the typical presentation of HEr2 positive breast cancer
rapid growing tumor and poor differentiation
458
trastuzumab SE
cardiotoxic
459
vemurafenib MOA
small molecule inhibitor of BRAd oncogene in positive melanoma
460
multiple myeloma
increased risk of infection, primary amyloidosis, punched out lesion, M spike on urine electrophoresis, Ig light chains in the urine, rouleax formation and plasma cells with clock face nuclei. creastes hypercalcemia, renal involvement, anemia, bone lytic lesions/back pain
461
MGUS
monoclonal expansion of plasma cells and are asymptomatic may lead to multiple myeloma
462
increase vascular smooth muscle contraction, increase pupillary dilator muscle contraction, increased intestinal and bladder sphincter muscle ocntraction
alpha 1- Gq
463
decreased sympathetic otuflow, decreased insulin release, decreased lipolysis, increased platelet aggregation, decreased aquoeous humor production
alpha 2- Gi
464
increased HR, contractility, increased renin release, increased lipolysis
B1-Gs
465
increased vasodilation, bronchodilation, increased lipolysis, increased insulin release, decreased uterine tone, ciliary muscle relaxation, and increased aqueous humor production
B2- Gs
466
increased lipolysis, increased thermogenesis in skeletal muscle
B3- s
467
CNS and enteric nervous system
M1 Gq
468
decreased HR and contractility of atria
M2 Gi
469
increased exocrine gland secretion, increased gut peristalsis, increased bladder contraction, bronchocontriction, inroad pupil constriction, ciliary muscle ocntration
M3 Gq
470
relaxes renal vascular smooth muscle
D1 Gs
471
modules transmitter releease in the brain
D2 Gi
472
increased nasal and bronchial mcuus production and increased vascular permeability contraction of bronchioles and pruritus and pain
H1 Gq
473
increased gastric acid secretion
H2 Gs
474
increased vascular smooth muscle contraction
V1-Gq
475
increased water permeability and reabsorption in collecting tubules of kidney
V2, Gs
476
what are the Gs receptors
B1, B2, B3, D1, H2, V2
477
what are the Gi receptors
M2,a2,D2
478
what are the Gq receptors
H1, a1, v1,m1,m3
479
bethenecol Moa and use
actiavtes bowel and bladder smooth muscle resistance to ACHE- used for postoperative ileum and urinary retention
480
carbachol MOA and use
copy of Ach, and it constricts the pupil to receive intraocular pressure in open angle glaucoma
481
methacholine MOA and use
stimualtes muscarinic receptors in airway when inhaled- challenge for asthma
482
pilocarpine MOA and use
contracts the ciliary muscle of the eye and pupillary sphincter, resistance to ACHE- potent stimulater of sweat, tears, and salvia, open angle glaucoma and sjogren
483
sonepazel, galantamine, rivastigmine MOA and use
indirect acetlycholenesteases used for AD
484
edrophonium MOA and use
ACH increased from stopping ache- diagnosis of MG
485
neostigmine MOA and use
increased ACh but no CNS penetration. it is used for neurogenic ileum and urinary retention and MG block ACHE
486
physostigmine MOA and use
increase ACh and anticholergic toxicity and crossed BBB. block ACHE
487
pyridostigmine
MG use and increase ACH and block ACHE
488
farmer with leaky- what is the posoning
organophosphates which inhibits aCHE and this is treated with atropine and pralodoxine
489
what are atropine, homatropine, tropic amide used on and applications, and MOA
it is muscarinic antagonist- eye use and produce mydriasis and cycloplegia
490
benztropine used on and MOA
PD and acute dystonia and it is muscarinic antagonist
491
glycopyrrolate used on and MOA
Gi and respiratory and parenteral preoperative use for reduction of airway secretions drooling and peptic ulcer- anti-muscarinic
492
hyoscyamine and dicyclomine used on and MOA
Gi and antispasmodics for IBS- anti-msucarinic
493
ipratropium and tiotropium used on and MOA
COPS and blocks PNS stimulation of vagus nerve- anti-muscarinic
494
oxybutyrnin, solifenacin, tolterodine, derfenacin
reduce bladder spasms and urge urinary incontinency- anti-muscarinic
495
scopolamine
anti-muscarinic- used for motion sickness and side effect of blurry vision, dry mouth, and urinary retention, and contripation
496
what are the effects of atropine
pupil dilation leading to glaucoma, decreased respiratory secretions, decreased acid secretion, decreased motility of the gut, and decreased urgency
497
what are the adverse effects of atropine
hot as a hare, dry as a bone, red as a beet, blind as a bat, mad as a hatter
498
gardner eats some seeds
it causes myadriasis and atropine poisoning
499
albuterol and samertrol- receptor action and use
B2>B1 so increase CAMP in the cells and used for lung
500
dobuatmine- receptor action and use
B1>B2,a, ionotroope and increased CO and decreased LVP and increased HR and myocardial O2 consumption so can worse myocardial ischemia
501
dopamine - receptor action and use
D1=D2>B>a- unstable bradycarida, HR shock, chornoctropic and iontopric effects at low does and vasoconstricts at high doese
502
epinephrine- receptor action and use
B>a- at high doses, alpha effects predominant stronger B2 effects than NE
503
fenoldopam - receptor action and use
D1 agonist and renal vasodialtion and increased renal perfusion for AKI. It is good for vasodialtion and natriuresis
504
isoproterenol - receptor action and use
B1=B2- electrohysiologic evaluation and increased cardiac contractility and decreased vascular resistance and decreased MAP
505
midodrine- receptor action and use
alpha 1 used for autonomic insufficiency and postural hypotension
506
NE- receptor action and use
A1>A2>B1 hypotension and septic shock
507
phenylephrine - receptor action and use
a1>a2- Gq-IP3 and increased Ca and protein kinase C is increased it is a vasoconstrictor and a decongestant and used for myadriasis which is pupil dialtion
508
amphetamine - receptor action and use
indirect genral agonist and reputake inhibiotr and release of stored catechoalmines
509
coacine- receptor action and use
indirect general agonist, reputake inhibiot- causes vasoconstriction and local anesthesia. never give Beta blockers because it can lead to opposed alpha 1
510
ephedrine- receptor action and use
indirect general agonist and releases stored catechoalmines- nasal decongestant, urinary incontience and hypotension
511
clinidine, guanafacine - receptor action and use
hypertensive urgency adhd and touretters. is bad because of depression of CNS, heart, and bp, and respiration, and miosis
512
alpha methyldopa use and adverse effects
HTN during pregnancy and direct Coombs is positive and hemolytic and LSE like syndrome
513
phenoxybenzamine
used for pheochromocytoma and prevents catecholamine crisis by non selective block of alpha receptors- gives orthostatic hypotension and reflex tachycardia
514
phentolamine
give to patents with MAO inhibits who eat tyramine containing foods- orthostatic HTN and reflex tachycardia
515
prazosin, terazodsin, tamsulosin
alpha1 selective antagonists usedfo r HTN and BPH and PTSD- get first dose orthostatic HTn. Tamsulosin is specific for BPH
516
what are the selective Beta blockers
a-m
517
what are the nonselective beta blockers
n-t
518
what are the nonselevetive alpha and b antagonists
carvediol and labetalol
519
what is nebivolol
beta 1 block and B3 tim so decreased HR and increased NO in the BV leading to vasodilation
520
what are the drugs used for HF
beta blocker ACE, angio II, and aldosterone antagonist
521
what are the dihydropyridine CCB
They are amlodipine, clevidipine, nicardipine, nifedipine, nimodipine
522
what are the non-dihydropyridine CCB
they are verapamil and diltiazam
523
what is the MOA of the CCB
they block volatage dependent L type Calcium channels and it in both heart and smooth muscle which decreases the muscle contractility
524
what is the use of the dihydropyridine CCM
HTN, angina, Raynauds
525
what is the use of nondihydropyridine
HTN, angina, afib
526
what is nimodipine used for
subarachnoid hemorrhage to prevent the secondary cerebral vasospasm
527
what is clevidipine used for
HTN urgency or emergency
528
what are the adverse effects of the non-dyhydropyridines
it is cardiac depression, AV block, hyperprolactinemia, constipation
529
what are the adverse effects of dihydropyridines
peripheral edema, flushing, diziness, gingival hyperplasia,
530
what happens if you use verapamil and beta blockers
it can cause negative chronotropic effect yielding severe bradycardia and hypotension
531
what is the MOA of hydralazine and use
increase cGMP and smooth muscle relaxation and vasodilator arteriole and reduce after load. It is used for severe HTN, HF and used during pregnancy, use with beta blocker to prevent reflex tachycardia
532
what is the adverse effect of hydralazine
compensatory tachycardia, fluid retention, headache, angina, SLE and contrindicated in angina and CAD
533
nitroprusside MOA
short acting increase in cGMP and direct release of NO and cyanide toxicity
534
fenoldopam MOA
dopamine D1 receptor agonsit- coronary, peripheral, renal, and splanchnic vasodialtion. Decrease BP and increase natriuresis. also used postoperatively as an antihypertensive. Cause hypotension and tachycardia. It increases renal perfusion. it is good for AKI.
535
what does nitroprusside to heart values
it is decreased LV preload and after load so SV is maintained and can be used in hypertensive heart failure.
536
what is the MOA of nitrates
it vasodilates by increasing No in the vascular smooth muscle and increase in cGMP and smooth muscle relaxation. Dilate veins>arteries and decrease preload. Ventilate and decrease preload and arterial dilation to decrease after load and decrease O2. Increase HR and decrease EDV.
537
what is the use of nitrates
angina, acute coronary syndrome, pulmonary edema
538
what are the adverse effects of nitrates
reflex tachycardia, hypotension, flushing, headache, decrease GTP and increase cGMP leads to decrease in Ca and so decreased activation of myosin light chain kinase so dephospho rylation of MLK so vascular relaxation
539
what is the deal with not dosing at night for nitrates
it is development of tolerance for the vasodilating action during the work week and loss of tolerance over the weekend- tachycardia, dizziness, headache upon re-exposure
540
what cytokine causes fever, acute inflammation, and activates endothelium to express adhesion molecules
IL-1
541
what cytokine causes fever, and production of acute phase proteins
IL-6
542
what cytokine causes chemotactic factor for neurtorphils
IL-8
543
what cytokine causes induced differentiation of T cells into Th1 cells which activates NK
IL-12
544
what cytokine mediates septic shock and activates the endothelium and causes WBC recruitment, vascular lead, and cachexia
TNF alpha
545
what cytokine stimulates growth of helper, cytotoxic, and regulatory T cells, and NK cells, only secreted by T lymphocytes and it is present for long time FA apoptosis
IL-2
546
what cytokine secreted by NK cells and T cells in repsonse to IL-12 from macrophages, stimulates macrophages to kill phagocytes pathogens. inhibits the differentiation of TH2, and activates NK cells to kill virus infected cells. MHC expression and antigen presentation by all cells
IFN gamma
547
what cytokine induces differentiation of T cells into TH2 cells and promotes growth of B cells and enhances class switching of IgE and IgG
Il-4
548
what cytokine promotes growth and differentiation of B cells and enhances class switching to IgA and stimulates growth and differentiation of eosinophils. seen as an increase in asthma
IL-5
549
what cytokine attenuates inflammatory response, and decreases expression of MHC II and Th1 cytokines. Inhibits activated macrophages and dendritic cells. Also secreted by regulatory t cells
IL-10
550
what are the two cytokines that attenuate the immune response
TGF-b and IL-10
551
what cytokines are secreted by macophages
IL1,6,8,12, and TGFa
552
what cytokines are secreted by T cells
IL2,3,
553
what cytokines are secreted by Th1
interferon gamma
554
what cytokines are secreted by Th2
IL-4,5,10
555
what drugs interfere with the pyrimidine pathway (c,T)
methotextate, trimethoprim, and pyrimethamine, 5Fu
556
what drugs disrupts purine syntehssi
6MP, ribavirine, and mycophenolate
557
what drugs disrupt the purine and pyrimidine pathways
hydroxyurea
558
what enzyme is deficient in SCID
adenosine deaminase
559
ezyme deficient if there is hyperuricimea. gout, aggression, and self-multialtion, and intellectual disability,y and dystonia- orange sand in diaper
defective purine salvage due to absent HGPRt and this leads to excess uric acid production and increased PRPP aminodtransferase activity.
560
what drugs can be used to treat Lesch Nyhan and what enzyme does it target
Allopurinol and febuxostat target xanthine oxidase and degrade the uric acid to make it get excreted into the urine. this only really helps the gout
561
if there is low glucose the nwhat happens with the lac operon
there is increased adenyl cyclase activity and increased generation of cAMP from tATP and activation of catabolite activator protein and increased transcription
562
what happens to the lac operon if there is high lactose avaialbel
it unbinds the repressor protein for the repressor/opertator site and increases transcription
563
what process is defective with xeroderma pigmentosa
it is defective repair of pyrimidine dimers because of UV exposure. It is defective endonuclease to remove these dimers
564
what process is defective in the occurrence of Lynch syndroem
mismatch repair
565
what process is defective in ataxia telangactasei and falcon anemia
non-homologous end joining
566
where can a promoter be in relation to the the start codon
it can be upstream of it by 25-75 bps
567
where are enhancers and silencers
located wherever including introns
568
kid eats a mushroom trying to get high then starts dying from liver failure- what is it and what is impaired
it inhibits RNA polymerase II which his mana so it causes severe hepatotoxicitiy
569
what drug blocks RNA polymerase of prokaryotes
rifampin
570
what are antibodies for spilesomal SnRNPs specific for
SLE
571
what are anti-U1-RNP antibodes specific for
mixed connective tissue disorder
572
what are where is the amino acid acceptor side
it is CCA on the TRNA 3' end
573
what si the enzyme that charges TRNA
aminacyl tRAN syntheses which scrutinizes the amino acid before and after it binds to tRNA.
574
what cells have increased RER
goblet cells and plasma cells and neurons nil substance
575
coarse facial features, clouded corneas, restricted joint moment- diseease and deficiecny
it is I-cell disease and it is from the non-use of mannose6phosphate which means that lysosomal enzyme go to the extracellular matrix instead of to the lysosomes
576
what do peroxisomes do
very long chain fatty acids, AA, and branched fatty acids, and ethanol
577
what do proteasome do
they are barrel shaped protein complex that degrades damage or ubiquitin tagged protein
578
what drugs are microtubules inhibitors
mebensazole, griseofulvin, colchicine, vincristine/blastine, paclitaxel
579
cafe au lait macules, polyostostic fibrous dysplasai, nd procoous pubery with multiple endocrine issues
McCUne Albright syndrome- due to mutation with g protein signaling and it is only survivable if mosaic
580
ragged red fibers
mitochondrial disorder so heteroplasmy
581
hyperphagia, obesitity, intellectual diability, hypogonadism, and hypotonia- what is the disorder and what happened
it is prayer willi it is from matron imprinting the gene from mom is silent and dads is missing or there is maternal disomy
582
seizures, inappropriate laughter, atazia, and severe intellectual disability-- what is the disorder and what happened
Angelman- parental imprinitng so da dis silen mom is deleted or paternal disomy
583
increased phosphate wasting at proximal tubules and results in rickets but its resistant to vitamin D- what is the disorder and what happened
it is hypophospatemic rickets and it is XD
584
dwarfism with limb length only affected- what is the defect and disorder
Anchondroplasia mutated FGFR3, and it is defective chondrocytes from this
585
ADPKD is from what gene
PKD1 or 2 on chromosome 16 mainly and sometimes 4
586
what chromosome is the deletion of FAP
it is chromosome 5q APC gene
587
severe atherosceloritic disease early in life with corneal Marcus, and tendon xanthomas- what is the defect and disorder
it is elevated LDL due to a defective or absent LDL receptor- it is lack it in the lvier- familial hypercholesterolemai
588
branching skin lesions, recurrent epistaxis, skin discoloration , Av malformations wit hGI bleeding ,hemoptysis, hematuria, nail clubbing
hereditary hemorrhagic telangactasia it is AD
589
what NT changes occur with HD
decreased GABA, increased DA, decreased ACH
590
multiple early malignancies, and sarcoma, breast, leukemia, adrenal gland, and osteocsarcoma and adenocarcinoma of the breast- what is the defect and disorder
LiFaumani- inactivation of one allele and there is issues with p53
591
what chromosome is the fibrin gene and when is it mutated and what directions do the lenses go
Marfan chronocome 15 and up an temporal
592
what gene is MEN2 associated with
ret
593
what is the function of dystrophin
it links actin to transmembrane proteins
594
what is the mutation with duchenne
it is a frameshift or nonsense mutation
595
what is the mutation with Becker
it is a non-frameshift mutation
596
post pubertal macroorchisdism, long face wit ha large jaw, and large everted ears, autism ,and mitral valve prolapse, ADHD, and large forehead-- what is the defect and disorder
it is fragile X which is XD and it is a trinucelotide repeat in the FMR1 gene and it is from methylation which decreased the FMR1 expression
597
what is the robertsonian translocation and what can it cause
Downs it is 14;21
598
what is the quad screen for downs show
decreased afp, increased bHCG, and decreased estriol, and increased inhibin A- beta and A are increased
599
severe intellecturala disability, rocker bottom feet, microagnathia, low set ears, clenched hands with overlapping fingers, prominent occiput, and congenital heart disease- what is the disease and what is the quad screen
edwards syndrome- decreased all levels on quad screen
600
severe intellectual disability, rocker botton feet, micropthalmia, microcephaly, and cleft lip and plate and holoprosencephaly, polydactlyl, and congenital heart disease, cutis appeals, ompahlocele- what is the disease
patau syndrome- cutis aplasia is holes in the scalp
601
woman with multiple miscarriages but when she has a child they have dysmorphic features- what might be the issue
unbalanced translocation
602
micocephaly, moderate ssevere intellectural disability, high pitched cry, epicanthal fols, cardaic abnormalities- what is the disease and chromosomal abnormality
Cri-du-Chat syndrome- microdeletion on the short chromosome 5
603
elfin faces, intellectual disability, hypercalcemia, and increased sensitivity to vitamin D, well developed verbal skills, extreme friendliness, cardiovascualr problems- what is the disease and chromosomal abnormality
Williams sydnrome- chromosome 7 deletion including the elastin gene
604
what pouch is in pouch 4
thymus and superior parathyroid
605
cleft paplate, abnormal face, thyme aplasia, cardiac defects, hypocalcemia- what is the disease and deletion and immunodeficiency
i tis a defect of the 3 and 4 pouch from a micro deletion of chromosome 22q11 and it has immunodeficiency because there are no T cells produced so recurrent fungal and PJP and candida
606
what vitamins can be produced by enteric bacterai
K and folate
607
what does gastric bypass do to vitamines
b12,A,E,Fe are all decreased and K and folate are increasd from the extra bacteria
608
what enzyme is inhibited my fomepizole
fomepizole is inhibitted by alcohol dehydrogenase and this is an antidots for methanol or ethylene glycol poisoning
609
what is the enzyme inhibited by disulfiram
inhibits acetaldehyde dehydrogenase and acetaldehyde accumulates and this contributes the hangover
610
where does fatty acid oxidation, Coa production, TCa, ox phos, and ketogenesis occur in the cell
mitochronidra
611
where does glycolysis, HMP shunt, synthesis of setters, proteins, and fatty acids, and cholesterol, and nucleotides occur in the cell
cytoplasm
612
where does heme synthesis, urea cycle, and gluconeogenesis occur in the cell
both the cytoplasm and mitochondria
613
metabolic acodis, hypoglycemia, and increased base metabolic rate and ketones from the AGMA, get hypotonic, lethargic, vomottin, respiratory distress and increased propionic acid and urine methlymalonic acid-what is the defect
defect in methylmalonic acid mutate which is AR and it causes methylmalonic acidemia
614
what is the rate limiting enzyme for glycolysis
PFK1
615
what is the rate limiting enzyme for gluconeogenesis
Fructose 1-6 bisphosphatase
616
what is the rate limiting enzyme for TCA cycle
isocitrate dehydrogenase
617
what is the rate limiting enzyme for glycogenesis
glycogen syntahse
618
what is the rate limiting enzyme for glycogenolysis
glycogen phosphorylase
619
what is the rate limiting enzyme for HMP shunt
G6PD
620
what is the rate limiting enzyme for de novo purine syntehssi
CPSII
621
what is the rate limiting enzyme for denote purine synthesis
glutamine- PRPP amidotransferase
622
what is the rate limiting enzyme for urea cycle
CPS1
623
what is the rate limiting enzyme for fatty acid synthesis
acetly Co carboxylase
624
what is the rate limiting enzyme for fatty acid oxidation
carnthine acyltransfera I- deficiency leads to myopathy and hypoketotic hypoglycemia from decreased beta oxidation in the mitochondria
625
what is the rate limiting enzyme for ketogenesis
HMG COA synthease
626
what is the rate limiting enzyme for cholesterol syntehssi
HMG COA reductase
627
severe metabolic acidosis of the neonate wit h lethargy, poor feeding, vomiting, hypotonia
propylnul coa issue
628
what enzyme is blocked by werknickes
alpha ketoglutarate dehydrogenase
629
what is NAD used for
catabolic processes
630
what is NADPH used for
anabolic processes as a supply of reducing equivalents
631
what is the difference between glucokinase and hexokinase
hexokinase is in most tissue and it has a higher affinity for Km and lower capacity for glucose. it is no induced by insulin
glucokinase is a high KM so low binding but high capacity sand it iis induced by insulin
632
what cofactors are needed for pyruvate dehydrogenase complex
thiamine pyrophosphate (B1), lipoid acid, Coa (B5), FAD (riboflavin), and NAD (niacin
633
rice ater stools, garlic breath and vomiting what did they ingest
arsenic and it blocks lipoid acid which is used in the pyruvate dehydrogenase complex
634
neurologic defects, lactic acidosis and increased serum alanine in infant- what is the deficiency, treatment and cause
it is pyruvate dehydrogenase complex deficiency and it causes a build up of pyruvate that get shunted to lactate and alanine This causes the increased lactic acidosis. Need to increase ketogenic nutrients which is high fat and high leucine and lysine. Supplement with b1
635
what can pyruvate produce
alanine, pyruvate carboxylase to oaloacetate, glycolysis to TCA, and lactic acid dehydrogenase
636
what enzyme requires all the cofactor in the TCA cycle
alpha ketoglutartate dehydrogenase complex requires B1,B2, B3,B5, lipoid acid
637
mucsle breakdown, pain and decreased energy in the excerisiz muscle can be from what
lactate dehydrogenase it cannot regenerate NAD so during strenuous activity leads to muscle breakdown. NAD is used to covert glyceraldehyde 3 phosphate to 1,3 bisphosphate in glycolysis
638
what inhibits the electron transport chain
rotenone, and antimycin, CO and CN
639
what is the ATP synthase inhibitor
oligomycin
640
what is the uncoupling agent
2,4 dinitrophenol for weight loss and aspirin if there is an OD
641
what contest pyruvate to oxaloacete and what does it requrei
pyruvate carboxylase and it reared biotin and activated by acetyl coa
642
where can gluconeogenesis occur
the kidney, liver, and intestinal epithelium
643
what is the purpose of the HMP shunt
it provides a source of NADPH form available glucose 6-P and the NADPH is required for reductive reactions and glutathione reduction inside RBC, fatty acid and cholesterol biosynthesis. This pathway yields ribose for nucelotide synthesis and glycolytic intermediates. this occurs in the cytoplasm
644
what is the rate limiting step for HMP shunt
glucose 6P
645
what do transkeolates do and what does it requried
it requires B1 and it takes ribose 5p, glyceraldehyde 3P, and fructose 6P to ribulose 5P
646
person takes drug then gets heinz bodies and bite cells and hemotlyic anemia- what are the causes, why does it happen and what is the inheritance pattern
it is G6PD decadencet so it is a deficiency of glucose 6P cannot go to 6 phosphogluconate. It decreased NADPH in the RBC which leads to poor RBC defense against oxidizing agents. The causes are fav beans, sulfonamides, primaquine, and anti-TB drugs. It is X-linked recessive
647
frucctose in the blood and urine- what enzyme is deficient and what is the inheretaine
it is defect in frucktokinase which is AAR and it is asymptomatic because fructosae is still converted by hexokinase
648
child starts eating juice and fruit and honey and hypoglycemia, jaundice, cihhrosis, vomiting irritability, hepatomegaly, and increased LFT- what is the deficiency, and why is this more severe than essential fructosuria
it is a deficiency of aldolase B and AR- facts 1phospphate accumulates causing a decrease in available phosphate which results in the inhibition of glycogenolysis and gluconeogenesis. Reducing sugar is detected in the urine. decreased fructose and sucrose consumption
649
glatactose in the blood and urine, infantile cataracts and failure to track objects of social smile- what is the deficiency and why
galactokinase deficecny- galactitol accumulates if galactorse is present and begins when the infant starts feeding
650
failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability and ecoli sepsis in neonates- what is the deficiency and why
deficiceny of galactose 1P uridyltranfersase and its AR. damage is accumulation of toxic substrates like galaticol which accumulates in the lens.
651
why does sorbitol cause eye damage and what patients get it
in hyperglycemia state, alludes reductase converts glucose to sorbitol faster than it can be metabolized and sorbitol then accumulates and it increases water diffusion into the cells. Depletion of NADPH by aldolase reductase increases the oxidative stress which accerleates the development of cataracts and microvascular complications in the diabetics
652
bloating, cramping, faltulence osmotic diarrhea- what is deficient
insuffienct lactase enzyme and it is age depend and loss of brush border can also be there the stool will have a low pH and breath will have increased hydrogen. intestinal biopsy should be nromal
653
what are the essential amino acids
methionine, valine, histidien, isoleucine, phenylalanine, threonine, typtophan, leucine, lysine,
654
what AA are in the DNA histones
lysine and arginine- positively charged
655
what should the diet change toward if there is a defect in the urea cycle
need to only have essential AA and no excess because of the deleterious effects
656
whats released form the muscle during protein catabolism and explain the rest of the process
alanine is release by muscle during protein catabolism as part of the glucose alanine cycle that removes excess nitrogen. Alanine goes to the liver as a vehicle of nitrogen disposal and carbon source for glutton. Allan is transaminate and produces pyruvate and alpha ketoglutarate and accept the amino grow. Glyctamate receive the amino group and releases ammonia to regeneratie the alpha ketoglutarate
657
what happens with hyperammonia
excess NH3 which depleates the alpha ketoglutarate leading to inhibition of the TCA cycle
658
what can be given to decrease blood ammonia levels
lactose ot acidiffy teh GI track, NH4 to help excretion, reifaximin to decrease colonic ammoniagenic bacterai, benzoate, phenlacetate or phnelybuttarte to bidn to NH4 and lead to excretion
659
neonates with poorly regulated respiration, body temperature, poor feeding, and intellectual disability- what is the deficiency and why
n-acetylglutamate synthase deficiency which is a required cofactor for CPS1 which leads to hyperammonia- looks exactly like CPS1 deficincy
660
male child with increased orotic acid in the blood and urine, decreased BUN and symptoms of hyper ammonia, no medaloblastic anemia, and vomiting, tachypnea, and ocma-- what is the deficiency and why
it is XR and it is ornithine transcarbamylase deficiency- excessive caramel phosphate is converted to orotic acid as part of pyrinimide syntehse
661
child with failure to thrive, developmental delay and megaloplastic anemia refractory to B12 and folate with increased orocic acid but no hyperammonia
it is a defect in UMP synthase in the denote pyrimidine synthesis pathway
662
what are the derivatives of tryptophan and what does it require
niacin, and deratonin and melatonin- vitamin C Bh4, and B6
663
what are the derivatives of phenylalanineand what does it require
tyrosine, dopa, dpoamine, NE, and epi, thyroxine, melanin- B2,B6,BH4
664
what are the derivatives of histidine and what does it require
histamine-B6
665
what are the derivatives of glycine and what does it require
heme-B6
666
what are the derivatives of glutamate and what does it require
GABA(B6) and glutathione
667
what are the derivatives of arginine and what does it require
creatine, urea, NO (Bh4)
668
what happens if dopamine beta hydroxylate is blocked
increased dopamine, and decreased NE and intermittent fainting occurs
669
what enzyme is increased by cortisol in the catecholamine path and what is the reaction
NE conversion to epi and its increased by cortisol acting on pehnyltheanolamine N methyltransferase
670
musty body ordoe and intellectual disability ,growth retardation, seizures, fair skin, eczema, and musty body odor- what is the deficiency and what is the reason and tratment
it is PKU and it is deficiency of phenylalanine hydroxylate or tetrahydrobipterin. Tyrosin becomes essential. Need to increase tyrosine and tetrahjydrobiopterin
671
what happens with maternal PKU
lack of proper dietary therapy during pregnancy infant with microcephaly and intercellular disability growth retardation and congenital heart defects
672
what NT are decreased from PKU
NT and serotonin from thhe increased pehnylalanine
673
infant with vomiting, poor feeding, urine smells like burnt sugar-what is the deficiency and what is the reason and tratment
it is a blocked degradation of isoleucine, leucine, valine due to decreased branched chain alpha ketoacid dehydrogenase B2 causeing increased alpha ketocacids in the blood like leucine and this causes severe CNS defects and intellectual disability and death- it is AR and need to restrict these there and supplement thiamine
674
blue black connective tissue with debilitating arthralgia, and black uric when exposed to air (diaper)-what is the deficiency and what is the reason and tratment
it is congenital deficiency of homogentisate oxidase which is in the digressive pathway of tyrosine to fumarate pigment forming homogentisic acid accumulates in the tissue and its AR. usually being. there is no degradation of tyrosine to fumarate
675
intellectual disability, osteoporosis, marfanoid habits with kyphosis, lens subluxation down and in and thrombosis and artheroscelsosis and risk of MI and stroke-what is the deficiency and what is the reason and tratment
it is homocysterinura which is all from excess homocytesine- increase coagulability leads to acute coronary syndrome and atheroscelrosis
676
what are the deficient enzymes in homocysteinuria
- cystathione synthase deficiecny- need to increase cysteine, B12, and folate and decrease methionine
- decreaseed affinity for cystathione synthase for pyridoxal phosphate- increase B6 and cysteine in the diet
- methionine synthase deficiecny- give high dose B6 and decrease methionine
677
excess cytein in the urine with hexagonal stones-what is the deficiency and what is the reason and tratment
it is hereditary defect of the renal PCT and intestinal amino acid transporter that prevents reabsorption of cystine, ornithine, lysine, and argine- excess cysteine in the rine can lead to these stones. Can treat with urinary alkilinizzation wit hacetazolamide and chilling agents and increase hydration overall
678
what stain stains for glycogen
Pas stain
679
weakness, hyptonia, hypoketotc hypoglycemia with toxic accumualtion-what is the deficiency and what is the reason and tratment
it is a systemic primary carnation deficiency- inherited defect in transport of LCFASinto the mitochondria leading to accumulation
680
in infancy or childhood with vomiting, lethargy, seizures, coma, and liver dysfunction-and hypoketotic hypoglycemia-what is the deficiency and what is the reason and tratment
aR of fatty acid oxidation and decreased ability to break down fatty acids into acetyl COA and accumulation of 8-10 carbon fatty acyl carnations in the blood and hypoketotic hypoglycemia so a minor illness can lead to sudden death
681
what are the ketone bodies
acetone, acetoacetate, and beta hydroxybutyrate
682
what happens with alcoholism and excess NADH
it is shunted to oxaloacetate to malate both of which increase the buildup of acetyl COA which suits glucose and FFA toward the production of ketone bodies
683
starvation for 1-3 days blood glucose is maintained by
hepatic glyocgenolysis, adipose release of FFA, and muscle and liver which shift fuel use from glucose to FFA. Haptic gluconeogenesis from peripheral lactacte and alanine and from adipose tissue glycerol and properly cos .
684
when the glycogen reserves depleted by
1 day
685
starvation after 3 days
adipose sites like ketone bodies become the main source for the bain and after this is depleted and vital protein degradation accelerates leading to organ failure and death
686
what determines survival time from starvation
excess stores
687
what can happen with referring syndrome
negligible nutrient intake for 5 days so intracellualr stories are depleted because the body takes the intracellular stores and put them out. The body when its being refed then hides all the nutrients in the cells and this meand decreased K, Mg, phos in the blood leading to adverse effects and depletes the ATP form trapping nutrients in cells
688
what is hormone sensitive lipase used for
it is digression of Tgs stored in adipocytes- inhibited by insulin and increased by ACTH, and glucagon and catecholamines and during starvation it provides the substrate
689
what is LCAT
it catalyzes the esterification of cholesterol
690
what is APOe
mediated remnant uptake
691
APOA-1
activatees LCAt which catalyzes esterification of cholesterol
692
APOC-II
lipoprotein lipase cofactor
693
APOB48
mediates chylomicron secretion
694
APOB-100
binds LDL receptor
695
function of chylomicron
deilvers dietary Tgs to the peripheral tissue and delivers cholesterol to the liver in the form of remnants which are depleted of their TG;s and secreted by intestinal epithelial cells
696
VLDL
delivers heaptic TGs to periphea ltissue and secreted by eh lvier
697
IDL
formed in the degradation of VLDL delivers TGs and cholesterol to the lvier
698
LDL
delivers hapetic choelsterol to peripheral tissue
699
HDL
mediates reveres cholesterol tranport form the peripheral tissue to the liver
700
pancreatitis, heaptosplenomegaly, and eruptive xanthomas and creamy layer of supernant- what is deficiency and what is increased n the blood
there are increased chylocmiconrs in the blood and test with heparin for LPL activity and there is deficiency lipoprotein lipase and body can't clear dietary lipids but there is no increased risk of heart disease in hyperchylomicronemai
701
accelerated atheroscrolsis, tendon xanthomas and coverall acrus- what is deficiency and what is increased n the blood
absent or defective LDL receptors and this increases the LDL and cholesterol in the blood- AD- and it is variable if heterozygote can wait lonter- Familial hyperchoelsterolemai
702
hyper TG and pancreatitis what is deficiency and what is increased n the blood
it is hyeprtriglyceridemia and it is VLDL and increased Tg in the blood and its from the overproduction of VLDL
703
acnthocytes, neurological issues like progressive ataxia and retinitis pigmentosa and foamy enterocytes in the lamina propria- what is deficiency and what is increased n the blood
abetalipoproteinemua- decreased APOB48 and so can't get cholesterol out. AD and it is a mutation in MTP so there is decreased CLDL so steatoreaha and increased TG in the enterocytes
