UW2 Flashcards
what is deficient in familial dyslipidemias 1, 2a, 3, 4
1: lipoprotein lipase or apoprotein C-II (high chylomicrons, triglycerides, and cholesterol)
2a: LDL receptors or ApoB-100 (high LDL, cholesterol)
3: ApoE (high chylomicrons, VLDL)
4: overproduction of VLDL (high triglycerides)
how does the urea breath test work in H. pylor
patient swallows a bolus of carbon-13 labeled urea –> H. pylori breaks up the urea via urease –> breaths out labeled carbon dioxide
what can cause a false negative urea breath test in a patient with h. pylori
- concurrent PPI use
- bismuth use
- antibiotic use
describe a mitral stenosis murmur
diastolic thrill palpable over apex and a low-pitched, rumbling mid-diastolic murmur best heard over apex in left lateral decubitus position
most common cause of mitral stenosis
episode of rheumatic fever
what mutation causes peutz-jeghers syndrome
serine/threonine kinase (STK11) on chromosome 19
what histological finding can indicate liposarcoma
non-membrane bound cytoplasmic lipids that can cause nuclear indenting and scalloping of the nuclear membrane
what is the asboe-hensen sign and what disease is it seen in
extension of a lesion with direct pressure
pemphigus vulgaris
immunofluorescence findings showing a netlike “chicken wiring” pattern of IgG and C3
pemphigus vulgaris
compare wernicke-korsakoff syndrome from alcohol use and alcoholic cerebellar degeneration
wernick-korsakoff:
- results from vitamin B1 deficiency
- affects mammillary bodies
- confusion, ophthalmoplegia, ataxia (wernicke)
- can progress to irreversible memory loss, confabulation, personality change (Korsakoff)
alcoholic cerebellar degeneration:
- due to combination of B1 deficiency and direct alcohol-related neurotoxicity
- loss of purkinje cells in cerebellar vermis (wide based gait ataxia and truncal instability)
- ataxia that progresses over weeks to months before eventually stabilizing
- **coarse rhythmic postural tremor of fingers and hands, dysarthria, and diplopia
symptoms of henoch-schonlein purpura
what causes HSP
palpable purpura on lower extremities and arthritis
can be preceded by a viral URI and present with bloody diarrhea and crampy abdominal pain
IgA mediated vasculitis
what can be seen in the midst of normal intestinal mucosa in Meckel diverticulum
- heterotypic gastric mucoa
- pancreatic tissue
compare bleeding from a meckel diverticulum to bleeding from intussusception
meckel: painless, brisk rectal bleeding
intussusception: severe, intermittent abdominal pain, vomiting, bloody stools, palpable abdominal mass
pathophysiology of hypertrophic cardiomyopathy
abnormal hypertrophy of the LV myocardium and disordered arrangement of cardiac myofibrils
predominantly affects interventricular septum and causes LV outflow obstruction that increases afterload and decreases CO (exertional lightheadedness)
hypertrophy also leads to small LV cavity and impaired relaxation of LV walls with consequent diastolic dysfunction (high O2 demand, exertional angina)
what maneuvers increase intensity of hypertrophic cardiomyopathy murmur and why
valsalva
abrupt standing
nitroglycerin administration
- all decreases preload and LV blood volume)
what maneuvers decrease intensity of hypertrophic cardiomyopathy murmur and why
sustained hand grip (increases after load, increases LV ventricular volume)
squatting (increases after load and preload, increases LV ventricular volume)
passive leg raise (increases preload, increases LV ventricular volume)
where is the murmur for hypertrophic cardiomyopathy located
systolic murmur along left sternal border
what causes wide splitting of S2
conditions that delay RV emptying
- pulmonic stenosis
- pulmonary hypertension
- RBBB
what causes fixed splitting of S2
ASD
what causes paradoxical splitting of S2
conditions that delay aortic valve closure
- aortic stenosis
- LBBB
what is Job syndrome
hyper-IgE syndrome
causes recurrent skin and lung infections
(all other immunoglobulins are normal)
what is CD40 ligand deficiency
hyper-IgM syndrome
inability of T cells to activate B cell class switching (only IgM is produced)
what is x-linked agammalgobulinemia
defect in BTK (a tyrosine kinase)
severe immunodeficiency that results from inability to form mature B cells
shows lack of primary follicles and germinal centers
decreased B cell count and immunoglobulin levels
what is common variable immunodeficiency (CVID)
defect in B-cell differentiation
low or absent levels of all immunoglobulins
normal B cell count, but deceased immunoglobulins
compare immune cell counts between combined variable immunodeficiency and X-linked agammaglobulinemia
CVID: normal B cell count, decrease in all immunoglobulins
X: decreased B cell count and decrease in all immunoglobulins
compare functions of DNA polymerase I and III
I: removal and replacement of RNA primer
III: 5’-3’ DNA synthesis and 3’-5’ exonuclease activity
what genes and neoplasms are associated with Lynch syndrome
MSH2, MLH1, MSH6, PMS2
- colorectal cancer
- endometrial cancer
- ovarian cancer
what family history would lead you to believe the pt had Lynch syndrome
family history of colon cancer and endometrial cancer/ovarian cancer
what neoplasms are associated with li fraumeni syndrome
- sarcomas
- breast cancers
- brain tumors
- adrenocortical tumors
- leukemia
tacrolimus MOA
calcineurin inhibitors
binds FK506 and blocks T-cell activation by blocking IL-2 transcription
adverse effects of calcineurin inhibitors (cyclosporine, tacrolimus)
nephrotoxicity
why is metoclopramid contraindicated in Parkinson’s pts
it can exacerbated or cause de novo parkinsonian symptoms and trigger extrapyramidal reactions due to antagonist effect on dopamine receptors
indications for metoclopramide
vomiting or gastroparesis
MOA metoclopramide
D2 receptor antagonist
increases resting tone, contractility, LES tone, motility, promotes gastric emptying
clinical features of alkaptonuria
- homogentistic aciduria (urine turns black when exposure to air)
- ochronosis (blue-black pigment deposition in eyes, ears, and nose)
- ochronotic osteoarthropathy (pigment deposition in spine and large joints)
increased resistance to passive elbow flexion and extension is indicative of what neurodegenerative disorder
parkinsons
how does ischemia affect intracellular and extracellular anion levels
ischemia results in depletion of intracellular ATP stores –> plasma membrane Na-K-APTase is no longer able to maintain resting membrane potential –> leakage of Na+ INTO the cell and K+ leaks OUT OF the cell
- increased extracellular K+
- increased intracellular Na+
what is the foam stability index and what does it test for
mixing amniotic fluid with ethanol and shaking the tube
tests for surfactant (a ring of stable foam will develop)
tests fetal lung maturity
how does strenuous exercise cause osteoporosis
strenuous exercise or restricted caloric intake –> chronic energy deficitis –> suppresses GnRH secretion –> decreased FSH, LH, and estrogen –> early onset osteoporosis
what is the “female athlete triad”
insufficient caloric intake, amenorrhea, osteoporosis
why is heparin safer than warfarin during pregnancy
heparin: charged, water soluble, does not cross placenta
warfarin: lipophilic, crosses the placenta
what virulence factor does N. gonorrhea use to establish infection
pili
what eye related dz do HIV patients often get
CMV retinitis
symptoms of CMV retinitis
progressive vision loss with bilateral retinal hemorrhage and cotton-wool exudates on examination
what is the treatment for CMV retinitis
ganciclovir
ganciclovir MOA
inhibits DNA chain elongation by incorporation into viral DNA and inhibiting viral DNA polymerase
acyclovir/famciclovir/valacyclovir MOA
guanosine analog
monophosphorylated by HSV/VSV thymidine kinase, then di- and Tri-phosphorylated by cellular kinases
triphosphate form inhibits viral DNA polymerase by chain termination
how to perform motivational interviewing
acknowledge resistance to change while pointing out how behavior negatively impacts long term goals
“while you enjoy smoking, it sounds like you also wish you could breathe better and be more independent”
Define and compare:
- phenotypic mixing
- reassortment
- recombination
- transformation
Phenotypic Mixing:
- host cell is co-infected with 2 virus strains and progeny viruses exhibit coat or envelope proteins not coded for by the genetic material packed within them (subsequent progeny lose these traits)
Reassortment:
- genetic shift (genomic segments of 2 or more different version of a virus infect the same host cell)
Recombination:
- gene exchange that occurs through crossing over of 2 double-stranded DNA molecules –> resulting progeny have recombined genomes with traits not present simultaneously in either parent virus
Transformation:
- uptake of naked DNA by prokaryotic or eukaryotic cell
cause and symptoms of McArdle disease
AR condition from deficiency of muscle glycogen phosphorylase
sx:
- impaired exercise tolerance and muscle pain/cramping
- swelling on exertion
- myoglobinuria (red urine)
- “second wind” phenomenon
cause and symptoms of Von Gierke disease
glucose 6 phosphatase deficiency
sx:
- fasting hypoglycemia
- lactic acidosis
- hyperuricemia
- hyperlipidemia
cause and symptoms of Cori disease
debranching enzyme (a-1,4 glucosidase) deficiency
sx:
- hepatomegaly
- ketotic hypoglycemia
- hypotonia and weakness
- abnormal glycogen with very short outer chains
cause and symptoms of pompe disease
alpha a-glucosidase deficiency
sx:
- normal glucose levels
- severe cardiomegaly
- glycogen accumulation in lysosomes
cause of ophthalmopathy in grave’s dz
stimulation of orbital fibroblasts to secrete excessive glycosaminoglycans
jugular venous tracing:
- a wave
- c wave
- x slope
- v wave
- y slope
- a wave: atrial contraction
- c wave: bulging of tricuspid valve during right ventricular contraction
- x slope: right atrial relaxation
- v wave: continued inflow of venous blood
- y slope: passive emptying of right atrium after tricuspid valve opening
GI stem cells are located where in the intestinal epithelium
crypts of lieberkuhn
