UWORLD Flashcards
(220 cards)
1
Q
achondroplasia mode of inheritance
A
AD
2
Q
function of DNA polymerase 3 vs DNA polymerase 1
A
polymerase 3 - 5 to 3 DNA synthesis and 3 to 5 exonuclease (“proofreading”) activity
polymerase 1 - 5 to 3 DNA synthesis and 5 to 3 exonuclease…removes RNA primer and replaces with DNA
3
Q
MOA endopeptidase inhibitor?
A
aka NEPRILYSIN inhibitor….inhibits the inhibtor of several peptide hormones including brady kinin, glucagon, enkephalins, natriuetic peptide (ANP secreted by atrial cardiomyocytes)…can be used to lower BP through peripheral vasodilation, natruresis and diuresis
4
Q
specific RNA consisting of 90 ish nucleotides, contains high amounts of bases incluidng dihydrouridine, pseudouridien, and ribothymidine, and secondary structure arises from base paring within chain…what type of RNA?
A
tRNA!!!
has CCA tail at 3’ end
5
Q
How does total lung capacity, residual volume, forced vital capacity, and forced expiratory volume and diffusing capacity change when you age?
A
When you age, chest compliance decreases (stiffening ribs), but lung compliance increases (floppy alveoli) so they counterbalance each other.
TLC: unchanged RV: increases FVC: decreases FEV1: decreases Diffusing capacity: decreases
6
Q
Which metabolic processes houses enzymes that live in exclusively in mitochondria, cytosol, and both?
A
mitochondria: beta oxidation of fatty acids, citric acid cycle, carboxylation of pyruvate (gluconeogenesis)
cytosol: glycolysis, fatty acid synthesis, pentose phosphate pathway
both: heme synthesis, urea cycle, gluconeogensis
7
Q
Which cells have highly developed smooth endoplasmic reticulum?
A
any cells that are the site of steroid synthesis and detoxification of drugs/poisons
HEPATOCYTES and steroid hormone producing cells of ADRENALS and GONADS
8
Q
Describe the cardiac myocyte AP
A
rapid depolarizaiton (phase 0) - voltage gated Na channels open initial rapid repolarizaiton (phase 1) - rapid closure of Na channels plateau (phase 2) - distinctive feature!, opening L-type Ca channels and closure of K channels (membrane highly permeable to Ca and not as permeable to K) late rapid repolarizaiton (phase 3) - closure of Ca channels and opening of K channels (K efflux from cell resotres membrane resting potential to -90mv as opposed to -75 in skeletal muscle)
9
Q
Infection with what organisms can result in formation of cold agglutinin? (clumping of blood in ice as a response during low temperature)
A
Mycoplasma pneumoniae (also EBV infection and hematologic malginancy)
10
Q
infant presents with white pupils, sensory neural deafness, and patent ductus arteriosus
A
congenital rubella syndrome
prevent with LIVE ATTENUATED RUBELLA VIRUS VACCINE
11
Q
Patients with CGD are vulnerable to catalase positive organisms due to their NADPH oxidase deficiency…what are common catalase positive organisms?
A
burkholderia cepacia, serratia, nocardia, staph AUREUS, aspergillus
12
Q
What is the main virulence factor of Staph aureus and it’s MOA?
A
Protein A, found in peptidoglycan cell wall binds to Fc portion of IgG preventing complement activation, opsonizaiton, and phagocytosis
13
Q
Describe mitochondrial DNA
A
resembles prokaryotic (circular) and codes for many different things including ribsomal and transfer RNA
14
Q
What are the 3 ketones
A
acetoacetate, acetone, and hydroxybutyrate
15
Q
Myopathy, cardiacmyopathy, hypoketotic hypoglycemia, low carnitine…dx and pathophys?
A
primary carnitine deficiency…cannot transport fatty acids from cytosol to mitochondria for breakdown/oxidation into acetyl CoA for TCA cycle…therefore body cannot generate KETONE bodies (aceloacetate, acetone, hydroxybutyrate) when glucose is low
16
Q
baby initially well…develops poor feeding, hypotonia, large anterior fontanelle, large tongue/macroglossia, umbilical hernia
A
congenital hypothyroidism
17
Q
upslanting palpebral fissures, heart murmur, single palmar crease, face hyoplasia, flat nose…dx and 3 ways to get it
A
DOWNS
- meotic non disjunction (95%)
- unbalanced translocation
- mosaicism
18
Q
midline defects in infant, microcepahly, cleft lip, omphalocele, holoprosencephaly
A
patau syndrome trisomy 13
19
Q
Where are very long fatty acid chains and odd numbered brainching chains metabolized?
A
perioxosomes
deficiency will lead to neurologic defects
20
Q
patient being treated for TB presents with microcytic anemia diagnosed with prussian blue stain…dx, deficient enzyme, causative factor
A
sideroblastic anemia (look for rings)... isoniazid blocks pyridoxine phosphokinase leading to vitB6 (pyrodoxine deficiency) which is a necessary cofactor for ALA synthestase (rate limiting step of heme synthesis)...this causes the sideroblastic anemia
21
Q
Describe the virology of HBV
A
capsid contains partial double stranded circular DNA that has an enzyme in its virion with RNA dependent DNA polymerase
22
Q
B2 riboflavin is important for which cofactors (which are used in which reaction?)
A
FAD and FMN (flavin dinucluetide and flavin mononucleutide) which are both used in the elctron transport chain…esp succinate dehydrogenase reaction
23
Q
How do RAS genes work?
A
Go from inactive (GDP bound) to active (GTP bound) via receptor tyrosinase kinase leading to cell proliferation….when mutation in RAS occur, GTP active bound proliferates leading to uncontrolled cell growth and CANCER
24
Q
fever, facial pain, nasal eschar in patient with DKA…dx, diagnosis, rx?
A
murmycosis
dx with mucosal biopsy (usu. neg blood culture), will see right angle branching hyphae on biopsy
treat with amphotericin B and surgical debridement
25
Patient back from vacation comes in with papulopustular rash on trunk/extremities...pus shows gram negative rods, oxidase positive,
pseudomonas
| hot tub folliculitis
26
risk factors and protective factors for BRCA positive ovarian cancer
```
risk = anything that increases frequency of ovulation/shedding
protective = the opposite
```
risk - BRCA, nulliparity, infertility
protective- oral contraceptives, multiparity, breast feeding
GET OUT THERE AND GET KNOCKED UP YO!
27
Transplant patient, develops non productive cough and low grade fevers...histology shows inclusion bodies (owl eyes)
CMV
| enveloped double stranded DNA virus
28
UTI in patient with indwelling catheter...culture shows NON lactose fermenting, gram negative rod
pseudomonas
29
SUMMER camp, bunch of children sick with fever, bilateral conjunctival injection, cough, NO RASH, erythematous oropharynx
adenovirus
30
In primary osteoporosis, how are calcium and PTH levels changed?
THEY AREN'T
| if not due to underlying medical disorder, serum Ca and PTH are usually normal
31
Which vessels have the highest risk of atherosclerosis?
coronary arteries and lower abdominal aorta
32
immunocompromised patient with pneumonia and brain abscess, gram positive acid fast branching, catalase positive
nocardia
33
Increased resistance to HAART in HIV treatment is due to mutations in what type of genes
pol genes
34
patient with DVT develops stroke...increased risk in what conditions?
this is paradoxical emboli that cased the stroke...anything that leads to pathological connection between right and left heart cavities can increase risk of this (patent foramen ovale or ATRIAL SEPTAL DEFECT)
remember atrial septal defects are associated with wide splitting S2 that doesn't change with inspiration
35
Describe action of RAAS system and where things occur
low renal blood flow (i.e. from CHF) -> renin produced by juxtaglomerular apparatus activated and converts angiotensinogen (made by liver) into angiotensin 1 in SYSTEMIC CIRCULATION -> then angiotensin 1 is converted to angiotensin 2 in small pulmonary vessels causing vasoconstriction and increase in BP as well as targets the adrenals to make more ALDOSTERONE ->this then increases Na reabsorption
36
girl born with partially fused labial scrotal folds and bilateral hypoplasa of adrenals...46 XX karyotype...dx and MCC
congenital adrenal hyperplasia
90% due to 21 HYDROXYLASE deficiency which converts progesterone to 11 deoxycorticosterone in zona glomerulosa; and 17 oh progesterone to 11 deoxycortisol in zona fasiculata
dx with high amount of 17 OH progesterone in serum
37
MOA and target of c perferigens (gas gangrene) toxin
attacks lechitinase, component of PHOSPHOLIPID membranes
38
how to dx essential fructosuria?
+ urine copper reduction test
| (-) glucose oexidase
39
mode of inheritance for spinal bifida
MULTIFACTORIAL (take your folic acid bitch!)
40
cardiac defects seen in 22q11
interuppted aortic arch and tetraology of fallot
41
MOA septic shock in causing lactic acidosis
decreased tissue perfusion = impaired oxidative phosphorlyation = pyruvate is shunted to lactate following glycolisis = LACTIC ACIDOSIS
42
hyperphenylalaemia + elevated prolactin despite tyrosine supplementation
deficiency of dihydrobiopterin reductase (NOT CLASSIC PKU)...these patients are low in dopamine too
43
elderly man with progressive corneal clouding and hx of poorly controlled DM
deficiency in sorbital metabolism (aldolase B or sorbitol dehydrogenase deficiency)
44
older child with normal growth with isolated cataracs
galactokinase deficiency (fructokinase deficiency doesn't cause cataracs)
45
how to dx Hartnup disease
increased neutral amino acids in urine
46
Why do hematomas turn green?
heme is degraded into biliverdin by HEME OXYGENASE (then into unconj bilirubin by biliverdin reductase)
47
Which apolipoprotein is associated with late onset Alzheimer's
ApoE
48
child after long period of not eating develops lethargy, vomiting, no ketones, low glucose
hypoketotic hypoglycemia likely from ACYL COA DEHYDROGENASE DEFICIENCY (most common)
49
how does hyperammoniemia affect neurotransmission?
ammonia crosses blood brain barrier and interferes glutamine/glutamate exchange (glutamine will accumulate in astrocytes) and will interfere with neurotransmission
50
what to homeobox/hox genes encode for?
DNA binding transcription factors/modulators which play important role in cranial/caudal axis
51
features of Turner syndrome
```
primary amenorrhea (MCC CAUSE)
short stature
webbed neck
broad/shield chest with widely spaced nipples
coarctation of aorta/bicuspid aortic valve
horseshoe kidney
OVARIAN DYSGENEISIS/STREAK OVARY
45 XO
```
52
What determines the degree of severity for Tetraology of Fallot?
degree of RVOT (bigger obstruction shunts more deoxygenated blood into circulation...lesser obstructions and babies can be acyanotic)
53
Features of SCID
severe bacterial and viral infections in infancy
CHRONIC DIARRHEA
mucocutaneous CANDIDIASIS
presents during infancy
54
T/F: Localized carcnoid produces symptoms of slushing, watery diarrhea, bronchospasm, and increased urinary excretion of 5-HIAA
FALSE...must be metastatic (i.e. pass through liver)
55
host cell coinfected with 2 viral strains and later progeny of host contain UNCHANGED PARENTAL GENOME
phenotypic mixing
56
Why are lung infarctions rare in PE?
if pulmonary artery is occluded...there is COLLATERAL circulation with BRONCHIAL ARTERY (as the bronchial artery still brings in nutrients and can help with gas exchange if pulmonary artery is out)
57
microangiopathic hemolytic anemia, thrombocytopenia, renal insufficiency, boody diarrhea
HUS from EHEC
58
synthesis of catecholamines
tyrosine (tyrosine hydroxylase) dopa (dopa decarboxylase) dopamine (dopamine B hydroxylase) norepi (PNMT which is UPREGULATED BY CORTISOL) epinephrine
59
How to dx strongyloides infection
rhabditiform larvae in the stool (non infectious)
60
MOA of cornebacterium toxin cauisng psedumembranous pharyngitis
acquires Tox gene via lysogenizaiton (bacteriophage infects host bacterium) by a temperate bacteriophage
61
antibiotic use-pregnancy/DM/immunosuppression predisposes women to what infection
```
candida overgrowth (i.e. candida vaginitis)
vulvar/vaginal pruiritis and thick white cottage cheese like discharge...budding yeast and pseduohypae
```
62
histologic finding of bacterial vaginosis
epithelial cells covered with gram variable rods) CLUE CELLS!!!
63
What do native CD4 cells need to differentiate into TH1 subtype
IFN gamma and IL 12!!!!!!
remember TH1 subtypes make IL2, IFN gamma for activation of macrophages and CD8 T cells needed for mediation of delayed type hypersensitivity
64
patient hx of hypothyroidism, weight loss, and hyperpigmentation p/w severe hypotension, abdominal pain/vomiting/weakness...dx and treatment
primary adrenal insufficiency in adrenal crisis...aggressive fluid resusitation and glucocorticoid supplementation (hydrocortisone, or dexmethasone)
65
MOA of ACE inhibitors in kidneys
decrease angiotensin II therefore DILATING EFFERENT ARTERIOLE and reducing GFR
66
Findings in Bruton agammaglobulinemia
absent B cells in peripheral blood, decreased Ig of all classes, absent/scanty lymph nodes, recurrent bacterial and enteroviral infections usually starting at 6 months of age...DECREASED CD 19 CD 20
67
18 YO patient with no a-galactosidase ...decreased sweating and neuropathic pain with non blanching red papules highest risk for developing what?
```
FABRY DISEASE (x linked)
cerebrovascular and cardiac disease as well as renal failure *proteinuria nad plyuria)
```
68
patient with fatigue, rash, flushing, abdominal cramps...rash worse with rubbing/scratching...large clusters of mast cells psotiive for KIT (CD117)...additional findings?
SYSTEMIC MASTOCYTOSIS usually with mutaitons in KIT receptor tyrosine kinase = excessive histamine release
excessive histamine = syconpe, flushing, hypotension, pruitis, urticaria, increased gastric acid secretion and gastric ulcers
69
Pregnant mother has low grade fever, maculopapular rash with progression from head down, posterior auricular and suboccipital lymphadenopathy....mother and fetus at risk to develop?
mother: polyarthritis and polyarthlargia
| fetus - sensorineural dafness, cataracs, cardiac malformations (PDA)
70
thyroid nodule with associated high calcitonin, mucosal neuromas/long arms/fingers
MEN 2B
| also associated with pheochromocytoma = flushing, diaphoresis, headahces
71
patient with sickle cell develps exquisite thigh pain and bacteremia due to non lactose fermenting, oxidase negative organism
salmonella osteomyelitis
| toxin is a special capsule "Vi angitgen" that protects it from opsonization and phagocytosis
72
burn patient with Gram negative rods that are oxidase positive and non lactose fermenting
pseudomonas
| treat with ceftazidime/cefepime, fluroquinolones, or pipercillin, carbepanems
73
infant of IV drug use mother with no prenatal care develops oral thrush, interstiitial pneumonia, and severe lymphopenia during first year of life
mother to baby HIV transmission
| prevent with ART (reverse transcriptase inhibitor)
74
Histologic features of PBC and what disease is it similar histologically to?
autoimmune disaese characterized by lymphocytic infiltrates and destruction of small/midsized intrahepatic bile ducts...similar to hepatic graft vs host disease!
75
What important B cell process happens in germinal center of lymph nodes
```
isotype switching
(VDJ recombination and B cell maturation happen in bone marrow before B cells reach lymph node)
```
76
Which immune cells recognize and kill cells with decreased MHC class I antigen cell surface expression (i.e. virus infected cells/tumor cells) and how do they do it?
natural (NK) cells via perforin and granzymes that induce apoptosis in target cell
77
How do OPG (osteoprotegerin) and RANK effect bone metabolisM?
When RANK binds to RANK-L, more osteoclasts form=more bone turnover/resorption. OPG blocks this binding and slows resorption. Therefore, high OPG/RANK ratio = less osteoclast activity and vise versa
low estrogen lowers this ratio and therefore osteoclast activity predominates
78
What can you give as a supplement in patient with folate deficiency to lessen erythroid cell apoptosis
thymidine (can bypass dihydrofolate reductase step)
79
Which area on tRNA the site where aminoacy tRNA synthetase "loads" the appropriate amino acid?
3' CCA tail = acceptor stem
80
Which organisms can cause diarrhea with only a small inoculum of bacteria?
camp jejuni, entamoeba histolytica, giardia, and SHIGELLA!!!
81
immunocompetent PATIENT WITH FEVER, FATIGUE, SPLENOMEGALY, ATYPAL lymphocytosis (no sore throat or lymphadenopathy), negative for horse erythrocyte agglutination
i know you're thinking EBV but nope
CMV
can also be passed on from blood products
82
patient with encephalitis (confusion), mobiliform rash, bilateral leg weakness/flaccid paralysis, summertime, febrile.
westnile virus
| supportive treatment
83
patient on medication for Graves disease presents with fever and sore throat?
suspect agranulocytosis from thionamides (methimazole or propylthiouracil)
confirm dx with WBC with diff
84
neonate with lymphedema and cystic hygroma
think Turner syndrome
85
patient back from trip in Africa who swam, presents with dysuria and hematuria with bilateral hydronephrosis and bladder wall thickening...dx and vector
schistomiasis
probably from s haematobium eggs from snails in freshwater...attacks urinary
s japonicom and mansoni infect the bowel
86
C tetani toxin blocks release of what chemicals which lead to disinhibited motor neurons?
GABA AND GLYYYYYCINE!!!!!!!
87
wide fixed splitting of second heart sound....pt at risk for what irreversible injury to circulation?
pulmonary vessel sclerosis and Eisenmenger syndrome (pulmonary hypertension due to right to left shunting)
NOT RVH (as this is usually reversible)
88
patient with hx of recent surgery presents with fever, anorexia, nausea, myalgias, arthralgias, rash, extensive liver damage
suspect drug induced liver injury from inhaled anesthetics...assoc with elevated transaminases and elevated prothrombin time
89
cushing like symptoms...ACTH and cortisol not suppressed with low dose dex, BUT IS SUPPRESSED with high dose dex
pituitary adenoma
90
cushing like symptoms...ACTH and cortisol suppessed with low dose dex
adrenal adenoma, adrenal malignancy, exogenous glucocorticoid intake, other malignancy
91
cushing like symptoms....ACTCH and cortisol not suppressed with both low and high dose dex
ectopic ACTCH production
92
Why are pregnant women more suseptible to gallstones?
```
estrogen = cholesterol hypersecretion = supersaturated bile
progesterone = induces gallbladder hypomotility
```
93
Hib vaccine reduces incidence of what diseases caused by Hflu?
prevents against TYPEABLE HFLU
....meningitis, pneumonia, bactermia, epiglottitis
EAR INFECTIONS AND SINUSITIS ARE DUE TO NON-TYPEABLE HFLU
94
hepatitis in developing country, high mortality in pregnant women
hep E...unenveloped RNA virus (single stranded) transmitted fecal oral route
95
When in the cell cycle does most Down syndrome nondisjunction occur?
maternal meosis 1
96
MOA puffer fish toxin
binds to Na channels inhibiting Na influx and preventing conduction of AP
97
how to distinguish Cori disease from other glycogen storage diseases
weakness and hypotonia, abnormal glycogen with very short outer chains
98
When to consider MAOI for depression?
when you've tried other classes and patient has symptoms of ATYPICAL depression (MOOD REACTIVITY, leaden paralysis, hypersomnia/hyperphagia, rejection sensitivity)
99
female infant presents with loss of motor/language skills and development of sterotypic hand movements as well as deceleration of head growth
Rett syndrome
| de novo mutation in Xlinked MECP2 gene
100
neurologic symptoms (tingling, difficulty concentrating) and recurrent episodes of nonspecific abdominal pain...dx and treatment
acute intermittent porphyria due to deficiency in PBG deaminase and/or ALA synthase INDUCTION (from certain meds or alcohol use or low calorie diets)
symptoms are due to accumulation of PBG and ALA so management revolves around inhibiting ALA synthase with glucose or hemin
101
young child comes in with regression of language and anemia lives in poor area...
LEAD POISONING
| inhibition of ferrochelatase and ALA dehydratase
102
gram positive cocci that produce dextrans on heart valves
viridans strep...assoc with dental caries
103
how to monitor progression of ankylosing spondylitis
monitor chest wall expansion (will be decreased and may lead to hypoventilation)
104
Which cells house serotonin neurons?
raphe nuclei
105
What is the toxic component of LPS in gram negative bacteria that leads to sepsis?
Lipid A
106
what causes incontinence in normal pressure hydrocephalus
stretching of cortical fibers = decreased inhibition from CEREBRAL CORTEX causing urge incontinence
107
deficiency in what immune factor results in disseminated mycobacterial disease in early childhood?
interferon gamma (mycoplasma defense involves interaction between macrophages and Th1 T cells)
108
vitD deficiency (i.e. from celiac) does what to serum Ca, phos, and PTH?
```
decreases CA and Phos (poor absorptoin from low vitD)
increases PTH (secondary hyperparathyroidism)
```
109
PKU patients are low in what neurotransmitter?
serotonin, norepi, epi, dopamine(causes intelleectual disability)
since BH4 or tetrahydrobiopterin) is a necessary cofactor in serotonin synthesis, tyrosine (DOPA)
110
which monnosaccharides is the fastest metabolized
fructose (since it bypasses PFK1, a major regulatory step in glycolysis)
111
Why is hemochromatosis delayed in women?
periodic blood loss through menses and pregnancy
112
What stain is useful in diagnosing Whipple disease from tropheryma whippelii?
PAS stains glycoproteins magenta
113
Patient presents with progresively worsening dizziness, limb/truncal ataxia, visual disturbance....found to have mass in lung
subacute cerebellar cerebellar degeneration - autoimmune response against tumor cells from paraneoplastic syndrome that corss reacts with Purkinje neuron antigens (anti-yo, anti p/q, anti hu)
114
Mode of inheritance for male pattern baldness epilepsy, glaucoma, HTN, schizo, and T2DM
polygenic
115
ambiguous genitalia in female with high blood pressure and moderate hypokalemia...46 XX karyotype
11 b hydroxylase deficiency (NOT 21 hydroxylase deficiency) since low renin hypertension is present
116
pathological lesion in hyperplastic arteriosclerosis
"onion skinning" concentric thickening of arteriolar walls
117
How does lung histology look in chronic rejection?
lymphocytic inflammation adn destruction of epithelium of small airways with subsequent exudate granulations tissue and fibrosis leading to progressive obliteration of small airways (bronchiolitis)
118
Splitner hemhorrhages in nail beds (subungual) are associated with.....
infectious endocarditis
| splinter hemhorrhages are microemboli
119
Acute onset gross hematuria in otherwise healthy patient with colicky flank pain, no CVA or fever, sickle cell
renal papillary necrosis 2/2 underlying sickle trait
120
biochemical etiology of polycythemia vera
abnormal transduction of JAK2 (cytolasmic tyrosine kinase)
121
What manuevers will increase preload/and or afterload
squatting (from standing position), sustained hand grip, passive leg raise
122
what manuvers will decrease preload and or afterload
straining (valsalva), sudden standing, or nitroglycerin administration
these will increase HOCM and MVP murmurs
123
how does perinatal hepB typically present?
infants usually immun tolerant (asymptomatic, normal or mildy elevated ast/alt), but have high risk for chronic infection (esp if mother is HBeAg postive), and babies will usually have high viral load and be HBeAg positive also...so get that vaccine/immunoglobulin ASAP!
124
patient evaluated for myoclonic epilepsy with proximal muscle weakness. muscle biopsy and gomori trichome stain show muscle fibers with blotchy red appearance
mitochondrial myopathy!
| passed down to offspring only by mothers
125
Which factors recognize stop codons and terminate protein synthesis?
releasing factors
126
lung histopathology shows tumor cells with numerous, long slender microvilli and abundant tonofilmants
mesothelioma
127
use of small ribu=onucleic acid
help make snRNPs which help cut out exons and splicing
128
components of passive immunity
immunoglobulin therapy, antiserum, maternal antibodies...
ex: ANTITOXIN FOR DIPTHERIA for someone who aint vaccinated
129
skin lesions associated with pseudomonas
```
otitis externa
ECTHYMA GANGRENOSUM (happens in sepsis)...black necrotic lesions on skin
hot tub folliculitis
```
130
Which part of brain experiences atrophy in Alzheimer's
temporoparietal lobes and HIPPOCAMPUS (early stages)
131
What happens to cardiac output and total systemic resistance during exercise
co = increase
| total systemic resistance = decreases (to accomodate flow to actively working muscles)
132
Heteroplasmy is associated with what mode of inheritance
mitochondrial disorders
133
Strawberry hemangiomas will...
be present at birth, grow with child and then regress before puberty
134
patient with long standing episodic occipital headaches, gait ataxia, and low lying cerebellar tonsils on MRI
chiari malformation (congenital disorder caused by maldevelopemnt of posterior foss)
chiari 1 - relatively benign and presents duringa dulthood with episodic occasional headaches
chiari 2 - more severe, presents in neonatal period, assocaited with lubar myelomeningocele and hydrocephalus
135
hyperacute graft rejection is what type of hypersensitivity
antibody mediated (type 2)
136
3 month old infant presents with hydrocephalus, intracranial calcifications and chorioretinitis
```
congenital toxo (in utero infection)
expectant mothers should avoid cat feces to help prevent toxo exposure
```
137
Where in the nephron does potassium sparing diuretics (i.e. spironolactone) work?
collecting duct and late distal tubule (antagonizing effects of aldosterone)
useful in heart failure
138
What neuruological condition does Vitamin E deficiency appear like?
Friedrich ataxia (degeneration of spinocerreballar tracts and dorsal columns)nd loss of DTRs
139
When you suspect nutrient malabsorption, which diagnostic test to run first?
Sudan III stain of stool to check for fat malabsorption...fats are usually the first to be effected in malabsorption
don't go with biopsy first
140
MOA PCP
n-methyl-D-aspartate (NMDA) receptor antagonist
141
features of anaplastic cells
not differentiated whatsoever and do not resemble cells of origin at all
pleuomorphic cells with large, hypechromatic nuclei that grow in a disorganized fashion also contain numerous abnormal mitoses of giant tumor cells
142
watery diarrhea, hypokalemia, acholhydria (pancreatic cholera), not due to lactose intolerance and non bloody...responds to somatostatin
VIPoma
143
What composes Thayer Martin medium (chocolate)
contains vancomycin, colistin (polymixin), and nystatin and trimethoprim
144
Major virulence factor for strep pyogenes that inhibits phagocytosis and complement activation
portein M
145
most common cause of meningitis in adults of any age
strep pneumo!!!!
lancet shaped gram positive cocci in pairs
NOT NEISSERIA
146
diffuse fibrous thickening and distortion of mitral valve leaflets along with commisural fusion at leaflet edges....long standing diastoclic murmur
chronic rheumatic mitral stenosis
147
What mediates insulin release in pancreatic beta cells?
ATP-induced closure of ATP-sensitive K channel leads to membrane depolarization and subsequent insulin release
148
One bad side effect of oxygen administration to babies
retinal damage (from retinal vessel proliferation/neorevasculariaiton) usually from treating neonatal respiratory distress syndrome
149
How does chron's disease precipitate formation of gallstones
decreaesed bile acid reabsorption in an affected terminal ileum promotes supersaturation of bile with cholesterol resulting in gallstone formation
150
cushing syndrome causes what histologic feature in adrenals
hyperPLASIA OF zona fasiculata
151
Bone complication of renal disease
renal osteodystrophy
| impaired calcium reabsoption and hyperphosphatemia -> secondary hyperphosphatemia -> increased bone turnover
152
blue black depositis on scclearae, and ear cartilage, debilitationg arthralgias
alkaptonuria
153
complication of untreated UC
toxic megacolin
| diagnosed with plain abdominal xray
154
features of PRIMARY TB infection
Ghon complex = lower lobe lung lesion and ipsilateral hilar lymphadenopathy
155
histologic findings in GERD
basal zone hyerplasia, elongation of lamina propria papillae, scattered eosinophils and neutrophils all on esophageal biopsy
156
2 most common brain tumors in child and how to differentiate
1. pilocytic astrocytoma - most common. usually affects cerebellum, solid AND cystic componnents of brain imaging
2. medullablastoma - second most common. usually affects cerebellum but presents with only SOLID component on brain imaging
157
bounding femoral and carotid pulses...uncomfortable when lying down on left side
aortic regurgitation
158
MOA of verapamil on cardiac pacemaker action potention
blocking Ca channels in cardiac slow response tissues which SLOWS PHASE 4 DIASTOLIC DEPOLARIZATION and conduciton velocity in SA and AV nodes
159
requirement for hospice
prognosis < 6 months
160
vaccine type for pneumococcus
polysaccharide covering
161
how does psoriasis look on histology
reduced or absent stratum granulosum with paraketotic stratum corneum with neutrophil infiltration (munro microabcesses)
162
Deep brain stimulation is aimed at which components in Parkinson's
globus pallidus INTERNUS or subthalamic nucleus
163
skeletal manifestation of primary hyperparathyroidism
osteitis fibrosa cystica - bone pain, subperiosteal erosions "salt and pepper" granular skull, brown tumor bone cysts
164
proximal muscle weakness, heliotrope rash, Gottron's papules (raised erythematous plaques ver joints)...dx and associations
dermatomyositis
| assoc with malignancies such as ovarian, lung, colorectal, and non hodgkin lymphoma (as paraneoplastic syndrome)
165
in acute mitral regurg, what happens to preload, afterload, and ejection fraction?
acutely, heart must accomodate both regurgitant blood and all the blood coming in from lungs which will INCREASE PRELOAD...low resistance regurg pathway DECREASES AFTERLOAD...increased preload with decreased afterload will INCREASE EF. however forward stroke volume is decreased since alot of it is regurgitating and overall CO is reduced which can cause cardiogenic shock and hypotension
in compensated MR, preload still increased but afterload is normal
166
How is Lambert eaton different form myasthenia?
lambert eaton has improved muscle activity with repeated use, antibodies against Ca channels (not Ach receptor), and is associated with hyporeflexia or areflexia, autonomic symptoms like dry mouth or impotence
167
patient presents with recurrent severe nosebleeds with pink spider like lesions on oral and nasal mucosa, face and arms
osler weber rendu syndrome, hereditary hemorrhagic telangiectasia
AD
can affect lips, oronasopharynx, respiratory tract, GI tract
rupture of any of htese can cause bleeding
168
patient who was treated for iron def anemia shows increased reticulocytes in blood stream...describe what these look like with Wright Gemsa stain
reticulocytes are slightly bigger than mature RBCs and will stain blue on the stain because of residual RIBOSOMAL RNA
169
patient treated for breast cancer has axillary lymph node diessection and goes on to develop chronic lymphedema in ipsilateral arm...what does this increase risk of?
angiosarcoma (Stewart Treves syndrome)
170
infant presents with white pupillary reflex...hx reveals that his father had this too...patient is at higher risk to develop what?
familial retinoblastoma = increased risk of other sarcomsas ( osteosarcoma being most common )
171
What do cytoplasmic granules (golden) in lungs that stain blue with Prussian stain indicate?
hemosideren laden macrophages in pulmonary alveoli indicates chronic elevation of pulmonary cap hydrostatic pressure most commonly a result of left sided heart failure
172
patient back from mexico presents first with fever, headaches, myalgias, joint pains found to have multiple purpuric lesions, diffuse amculopapular rash, and hepatomeglay with elevated liver enzymes and thrombocyto and leukopenia
dengue fever "break bone" fever
173
which DNA dependent RNA polymerase incorporates short RNA primers into replicating DNA?
primase
174
patient on antipsychotic develops tremor, generalized muscle stiffness. dx and treatment
drug induced parkinsonism
| treat with anticholinergics like trihexyphenidyl and benztropine (NOT LEVO DOPA since this can precipitate psychosis)
175
"moldy" grain in some substances causes specific G to T mutation in gene p53...predisposing patients to increased risk of....
HCC
(aflatoxin fro aspergillus found in corn, soybeans, and peanuts)ndue to GC to TA transversion in codon 249
176
patient with cystic fibrosis and assocaited fat malabsorption presents with ataxia, impaired proprioception/vibration, and hemolytic anemia
vit e deficiency
177
patient with RA is intubated and goes on to develop areflexic flaccid paralysis of ALL extremities...what is the underlying cause?
vertebral subluxation/misalignment
RA usually involves vervical spine and caues joint destruction and vertebral subluxation which cna be precepitiated by endotracheal intubation
178
Acidophilic bodies in the context of HCV is formed by what?
apoptosis
remember HCV causes aptosis and necrosis
apoptotic cells srhink, undergo nuclear fragmentaiton and become intesnely eosinophilic
179
patient taking NSAIDS for a long time presents with elevated Bun and Cr with 1+ proteinuria and 3-4 WBCs, renal US shows bilateral shrunken and irregular kidneys with few papillary calcificaiotns
chronic interstitial nephritis from NSAID use (drug induced)
180
Why is elastin rubber like
due to extensive cross linking between elastin monomers facilated by lysyl oxidase
181
right vs left frontal lob injurny
both will cause personality changes
right- disinhibition
left - more depressed and apathetic
182
patient with hx of cancer presents with nephrotic syndrome. kidney biopsy shows glomerular capillary wall thickening without an increase in cellularity. silver methenamine stain shows irregular spikes protruding form glomerfular basement membrane
membranous glomerulonephropathy
183
most common malignancy assocaited with asbestos exposure
bronchogenic carcinoma
NOT MESOTHELIOMA
184
2 mechanismsof peripheral neuropathy in diabetes patients
1. thickness, hyalinization, narrowing of arterial walls leads to microangiopathy of endoneural arterioles leading to ischemia
2. hyperglycemia = excessive conversion to sorbitol in peripheral nerves causing osmotic damage to axons and schwannacells
185
What are the two post infectious syndromes that devleop after GABHS infection? WHen and with what conditions do they develop?
PSGN and acute rheumatic fever
PSGN - can develop after skin or pharyngitis infection
acuterheumatic fever - can only develop after pharyngitis infection, not with only skin infeciton
186
What virulence factors of E coli causes neonatal meningitis, sepsis, and UTIs?
neonatal meningitis - K antigen (capsule)
sepsis/bacteremia - LPS/lipid A
UTIs - fimbriae (remember chick drinking UTI soda)
187
steps of neutrophil inflammation and associated
margination - vascular leakage gets neutrophils closer to walls
rolling - e/p selectin mediators with Sialyl lewis X or PSGL 1, neutrophil slows down
activation
tight adhesion and crawling - CD18 b2 integrins and ICAM 1
transmigration - PECAM1
188
most common cause of kidney stones and most common etiology
```
calcium stones (calcium oxalate or calcium phosphate)
most often assocaited with diopathic HYPERCALCIURIA....(NORMAL CALCIUM LEVELS WITH INCREASED CALCIUM IN URINE)
```
189
characterteristics of rejection in kidney trnasplant
- hyperacute
- acute
- chronic
hyperacute - gross mottling/cyanosis, arterial FIBRINOID NECROSIS/thrombotic occlusion, minutes to hours
acute - neutrophlic (humoral) and lymphocytic (cellular) infiltrate, vasculitis, endothelitis, less than 6 months
chronic - vascular wall thickening, intertitial fibrosis of vessels, more than 6 motnsh
190
medication for rapid lowering of TRIGLYCERIDES vs lowering of LDL vs lowering just cholesterol
TRIGLYCERIDES - fibrates lower VLDLsynthesis by activating PPAR a
LDL - statins (inhibit HmG COA reductase)
ezetimibe- lower intestinal cholesteral absorptoin
191
how do beta blockers help with thyrotoxicosis
1. decrease peripheral conversion of T4 to more active T3
| 2. reduce sympathetic outflow = loweredheart rate and anxiety
192
MOA cocaine
indirect sympathomimetic by inhibiting presynaptic reuptake of norepi, dopa, and serotonin. potent vasovonstrictor that can promote myocardial ischemia by causing coronary artery vasospasm and increased platelet aggregation
193
Common metabolic adverse affect of HAART
redistribution of fat from periphery to trunk
| lipoatrophy associated with NRTIs (-vudine) and proteaseinhibitors
194
```
ST segment elevations will show up in which leads with
occlusion in...
RCA
LAD
and LCX?
```
RCA - II, III, avF, posterior inferior wall supplied by posterior descending branch of RCA as well as sinus node possibly
LAD - anteroseptal transmural ischemia, v1-v4
LCX - lateral wall of left ventricle, v5 and v6, possibly in I and AVL
195
cerebellar hemangioblastoma assoc with congental cysts in liver, pancreas,
von hippel landau deletion of VHL gene on chromosome 3, AD
196
cortical and subependymal hamartomas, cutaneous angiofibromas, visceral cysts, cardiac rhabdomyomas, mental retardation, SEZRES, shagreen patches
tuberous sclerosis
197
cutaneous facial angiomas as well as leptomeningeal angiomas, skin involvement involves opthalmic V1 and maxiallry V2 distruibutiosn fo V2...mental retardation, seizures, hemiplegia, tram track calcificaitons on skull radiographs
```
sturge weber (encephalotrigeminal angiomatosis)
sporadic, somatic moacisim in GNAQ gene
```
198
NF1 vs NF2
NF1 - chromosome 17 - cafe au lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, lish nodules (iris hamartomas)
NF2 - chromosome 22 AD, bilateral acoustic schwannomas, juvenile cataracts, meningiomas, 2 ears, 2 eyes, 2 parts of brain
199
MCC sepsis in sickle cell patient
spneumo and H influenza
200
MOA of hemochromatosis
recessive mutation in HFE gene (C282y) on chromosome 6
abnormal iron sensing and increased intestinal absorption...iron accumulates in liver, pancreas, heart, skin.
hepcidin production is also decreased
201
excessive unmineralized osteoid
vit d deficiency
202
cystic degeneration and subperiosteal bone resorption
hyperparathyroidism
203
loss of trabecular bone, thinning
osteoporosis
204
why do alcoholics develop megaloblastic anemia?
nutritional deficiency of vit b12/folate which impairs synthesis of purine and pyrimidine (thymidine) bases thereby causing a defect in DNA synthesis which will hinder RBC maturation
205
murmur that gets better with diuresis and vasodilators
functional/reversible murmur, due to acute hemodynamic changes like med non compliance
206
congenital heart defects associated with Turners
coarctation of aorta
| bicuspid aortic valve
207
gram positive cocci
catalase negativ3e
able to grow in hypertonic saline and bile (bile soluble)
enterococci
| associated with infective endocarditis after GU procedures, UTI, or wound infection
208
gram positive cocci
| able to grow in bile (bil soluble) but not in hypertonic saline
strep bovus
| assoc with colonic cancer and can cause infective endocard
209
exercise induced fatigue in upper extremity, pain, paresthesia, dizziness vertigo, doppler shows reversal of flow in left vertebral arery
subclavian steal syndrome usually due to occlusion of left subclavian artery
210
How does carotid sinus help with paroxysmal supraventricular tachyacrdia?
carotid massage will stimulate carotid sinus which will increase stretch which will increase afferent baroreceptor firing towrads AV node (increases parasympathtic tone0...this slows conduction through AV node and prolongs AV node refractory period...decreases heart rate
211
how will ARBs/diuretics affect renin levils vs beta blockers
ARBs/diuretics - increase renin
| beta blockers - decrease renin
212
location of AV node
endocardial surface of RIGHT ATRIUM near insertion of septal leaflet of tricuspid valve and orifice of CORONARY SINUS
213
location of SA node
upper anterior right atrium at opening of superior vena cava
214
light microscopy of Guillan Barre?
segmental demyelination of peripiheral nerves and ENDONEURAL inflammatory infiltrate on light microsopy
endoysial infiltration is seen in polymyosistis
215
what is elevated in hypercalcemia of malignancy
PTHrP (parathyroid hormone related protein) usually from squamous cell cancres, renal and bladder cancer, oarian, breast
216
MCC asepctic meningitis
enteroviruses (echovirus, coxsackie, poliovirus)
217
patient from Guatameala, immunocompetent, presents wiht seizure...HIV negative MRI brain reveals 2.5 cm cyst within left sylvian fissure, minimal enhancement no assocaited edema
neurocysticercosis (taenia solium egg ingestion excrted in feces of human carriers)
albendazole treatment
218
patient who came in with septic shock develops Upper GI bleed 3 days after being intubated
curling ulcer
(hypotension/burn -> mucosal ischemia -> bleeding ulcerations)
not to be mixed up with cushing ulcers (from brain inury which stimualteds vagus nerve to increase Ach and secretion of gastric acid)
219
2 month old infant presents with HIGH fever and seizure, develops maculopapular rash that spares face after fever cools down...
HHV6 (roseola)
supportive therapy
attacks CD4 T cells
220
roseola vs parvob19 rash
roseola - develops after fever lacy rash all around body that SPARES FACE
parvob19 - slapped cheek (fifth's disesease), rash starts on face and spreads downwards
