Combank 3 Flashcards
sirolimus MOA
creates a complex with intracellular immunophilins (FKBP) and binds to mTOR inhibiting T cell proliferation in response to IL-2
usually giving with cyclosporine and corticosteroids after a kidney transplant to suppress organ rejection
An XR of small bowel obstruction appears the way it does because…
what is tx for SBO?
smooth muscle contraction pushing against an area of resistance
NPO, insert nasogastric tube, place on suction
What are gelatin containing vaccines?
MMR, influenza, rabies, varicella, and yellow fever
male between 15 and 35 yo with testicular enlargement and gynecomastia
choriocarcinoma
MC testicular neoplasm in infants and children; present with a painless and bulky testicular mass
dx?
what is seen histologically?
pathognomonic?
yolk sac tumor/ endodermal sinus tumor
honeycomb pattern is seen in which a reticular network is formed by the vacuolated cytoplasm of tumor cells
Schiller Duvall bodies - take the appearance of a central vessel that is rimmed by fibrous tissue and surrounded by malignant epithelial cells in a cystic space
Lab findings associated with PCOS are
- elevated serum androgens (total T, and DHEAS)
- elevated LH (LH:FSH >2) due to pituitary oversecretion and leads to decreased synthesis of FSH and increased androgen production
- elevated serum antimullerian hormone (AMH)
anemia, spleonomegaly, teardrop-shaped RBCs on peripheral smear, and bone marrow fibrosis
dx?
due to?
Primary myelofibrosis
due to a mutation in the cytoplasmic tyrosine kinsase janus kinase 2, which leads to a constituitively active TK with increased phosphorylation activity that induces erythrocytosis and eventually leads to fibrosis
bone marrow aspiration and biopsy or peripheral blood containing at least 20% myeloid blasts or equivalents
dx?
acute myeloid leukemia
Sickle cell mutation
single point mutation on the hemoglobin gene in which glutamic acid is replaced with valine
Why can you tx Sickle cell disease with hydroxyurea?
increases fetal hemoglobin
Adult with PCKD has what inheritence type?
autosomal dominant
(ADults)
What is commonly associated with the adult form of PCKD?
subarachnoid hemorrhages
What is the MC characteristic of toxocariasis?
What type of pathogen is toxocara canis?
eosinophilia
dog roundworm
detrusor muscle receives blood supply from
anterior division of the internal iliac artery
How does PTH work on the kidney?
- inhibiting Na/P cotransport
- increasing phosphate excretion
- increasing urinary excretion of cAMP
- increasing calcium resorption
Gentamicin concerns
aminoglycoside that could be toxic to the kidney
2 most common AE are ototoxicity and nephrotoxicity
admin IV once per day to minimize toxic effects
binds to 30s and 50s subunits in prokaryotes to interfere with formation of initiation complex for protein synthesis
requires oxygen as a cofactor to enter cells, thus anaerobes are intrinsically resistant to bactericidal effects
What nerve passes through the foramen lacerum?
what does it carry and what would happen if injured?
nerve of the pterygoid canal
contains parasympathetic neurons to the lacrimal gland and sympathetic neurons to blood vessels in the face
disruption of this nerve would result in anhidrosis and deficits in tear production
What nerve goes through the foramen ovale?
mandibular division of the trigeminal nerve (CN V3)
What nerve goes through the foramen rotundum?
maxillary branch of trigeminal (CN V2)
name of disease with deficiency in functional UDP-glucuronosyltransferase (UGT) activity
Gilbert Disease
pt with menorrhagia and family hx of menorrhagia
von Willebrand Disease
triad representative of DiGeorge syndrome
- “Conotruncal” cardiac anomalies
- hypoplastic thymus (T cell deficits)
- subsequent hypoplastic parathyroid glands (resulting in hypocalcemia)
Zidovudine characteristics
aka Azidothymidine (AZT) - NRTI
can incorportate itself into the growing DNA chain, synthesized by viral reverse transcriptase, causing chain termination
-navir suffix
protease inhibitors, can be part of HAART
drug class of efavirenz
NNRTI
What is the most extreme issue associated with Ehlers-Danolos syndrome?
berry aneurysm in circle of Willis
tumor cells with scanty cytoplasm and rings around little masses of nerve fibers
small blue cells forming Homer Wright rosettes
neuroblastoma
neuroblastomas especially tend to produce …. and the classic marker is its breakdown product in urine….
dopamine
homovanillic acid (HVA)
young child with a nontender, firm abdominal mass
tumor is extrarenal, and likely to cross midline and have calcifications
neuroblastoma
What apolipoprotein is necessary for LPL to act on associated lipoprotein?
What is it found on?
apo C II
found on chylomicrons, VLDL, and HDL
responsible for the removal of triglycerides and fatty acids from chylomicrons and VLDL for transport into extrahepatic tissues
presentation with osteogenesis imperfecta
- blue sclerae
- slightly protruding eyes
- early hearing loss
- frequent fx
- slight spinal curvature
- poor muscle tone
MC bacterial cause of sinusitis
S. pneumoniae
What is the MC AE of SSRIs?
what is an alternative tx to avoid this AE?
sexual dysfunction
bupropion
tumor growth along intact alveolar septae/lepidic growth pattern
bronchioalveolar carcinoma
A decrease in disease prevalence will do what to the PPV?
results in a decreased PPV
MCC of death in ADPKD?
what do the mutations in PKD1 or PKD2 cause?
cardiac disease
abnormal levels of polycystin-1 and polycystin-2
acute dystonic manifestations of extrapyramidal symptoms (EPS) are treated with what?
rx with anticholinergic properties like diphenhydramine or benztropine
recurrent oral aphthous ulcers, genital ulcers, and uveitis
can also have joint arthropathy and panniculitis/erythema nodosum
Behcet syndrome
What do paired bones of the skull do when the sphenobasilar symphysis goes into flexion?
external rotation
What is the acute phase of Chagas disease treated with?
how does this work?
nifurtimox - kills trypomastigotes in the blood, but is less effective against amastigotes in tissue
decreases the probablity of chronic disease
when nifurtimox is reduced in the trypanosome, a nitro anion radical is formed and undergoes auto-oxidation, resulting in the generation of the superoxide anion O2-, H2O2, HO2, and other highly reactive moleules, killing the organism
trazadone drug info
atypical antidepressant
weak inhibitor of 5-HT2A receptor, blocking serotonin reuptake; also causes sedation (inhibit H1 receptor)
tx for sleep disturbances and depression
AE: priapism (predisposed if multiple myeloma, leukemia, and SCA)
What is 5-HIAA?
5-hydroxyindoleacetic acid measured in a 24 hour urine collection test that measures the main metabolite of serotonin and can point to the dx of carcinoid syndrome
What type of cells are in carcinoid tumors?
neuroendocrine cells
succinylcholine drug info
- acetylcholine agonist at NMJ
- cause depolarization of the membrane
- initially causes depolarization that leads to fasciculations, continued exposure results in the Na channels entering an inactivated state and are blocked
- muscle no longer responds to stimulation
- known trigger of malignant hyperthermia
What does baclofen do?
GABA b receptor agonist, used to decrease muscle spasms
How does PTH work?
stimulating adenylate cyclase and generating cAMP
increased cAMP promotes increased bone resorption of calcium and phosphate, increased renal reabsorption of calcium, and decreased renal absorption of phosphate (in PCT)
In normal pregnancy, what happens to thyroid function tests?
rising estrogen during pregnancy induces the hepatic synthesis of TBG, a binding protein for T4
- TBG levels increase
- total serum T4 increase
- free T3 and T4 are normal
- TSH is normal (but was decreased in first trimester in response to the elevated hCG, and elevates at term due to increases in renal iodine clearance and the placental degradation of thyroid hormone
a lesion of the MLF produces nystagmus due to the resulting palsy of what muscle?
medial rectus muscle
OMM tx for post op ileus
inhibitory pressure of the lower thoracic and lumbar paravertebral muscles to the point of tissue relaxation to promote down-regulation of the sympathetic nervous system
What is “sodium escape” phenomenon?
chronically elevated sodium levels lead to a chronically high systemic BP and stimulate cells of the R atrium to release ANP
ANP allows the renal tubule to decrease Na+ absorption, and serum Na+ levels normalize
tx of MG and major AE of this tx?
pyridostigmine bromide (anticholinesterase)
AE: diarrhea, increased salivation and bronchial secretions, nausea, sweating, bradycardia, and hypotension
X linked congenital immunodeficiency characterized by recurrent pyogenic infections and eczema due to IgM deficiency and IgA excess
dx?
mutation?
Wiskott-Aldrich syndrome (WAS)
WASp gene on X chromosome
multiple severe infections in the first month of life, often in different systems; deficient in both T and B cells
dx?
how?
tx?
Adenosine deaminase deficiency (SCID)
CBC with differential and further advanced tests including lymphocyte function tests and molecular studies to identify known genetic defects
bone marrow transplant is curative if done before 3 months of life
Dx of DiGeorge syndrome confirmed with
reduced number of CD3+ T cells and chromosomal analysis
mutation of STAT3 gene on chromosome 17 leads to
hypergammaglobulinemia E syndrome or Job syndrome
two primary external rotators of the shoulder are…
What nerve innervates the accessory external rotator muscle?
infraspinatus and teres minor
axillary nerve innervates the teres minor and the deltoid
What nerve innervates the supraspinatus and the infraspinatus?
suprascapular nerve
Clomiphene MOA
SERM that inhibits negative FB of estrogen in the HT on gonadotropin release causing an increased release of LH and FSH from the anterior pituitary gland, which stimulates ovulation
unilocular or multilocular cyst with an associated tumor nodule; histo shows Rosenthal fibers, which are elongated corkscrew shaped eosinophilic fibers that stain positively for glial fibrillary acidic protein (GFAP)
dx?
pilocytic astrocytoma
benign CNS tumors located in the sella turcica and most commonly occur in children aged 5-10 yo
dx?
what do they arise from?
presenting ssx?
craniopharyngiomas
Rathke’s pouch
increased ICP, HA, projectile vomiting, papilledema, decrease in visual acuity, blurred vision, or bitemporal hemianopsia
Where do ependymomas most commonly occur?
What do pts present with?
what does histo look like?
commonly found in 4th ventricle
avg age at dx is 4 yo
insidious onset of lethargy, headache, nausea, vomiting due to increased ICP from obstructive hydrocephalus
histo: perivascular pseudorosettes, cells with periph nuclei that form a halo around an empty lumen; blepharoplasts, which are rod-shaped intracytoplasmic eosinophilic inclusions can also be found near the nucleus
9 yo with brain tumor midline cerebellum
dx?
histo?
medulloblastoma
Homer-Wright pseudorosettes, which are elongated tumor cells that are arranged concentrically around an eosinophilic central space devoid of any blood vessels
What lab will you see in hereditary hemochromatosis?
increased transferrin saturation due to high Fe concentration
TSS is characterized by…
high fever, rash, hypotension, multiorgan failure (3+ organs involved), and desquamation, typically of palms and soles 1-2 weeks s/p onset of acute illness
TSST-1 works by…
binds MHC II and T cell receptors outside of the antigenic groove, nonspecifically activating large numbers of T cells to stimulate release of IFN-y and IL-2
tx of Loa loa infection and MOA
diethylcarbamazine (DEC) is an antihelminthic drug that acts by inhibiting arachidonic acid metabolism in filarial microfilaria, which disrupts their membranes and makes them more susceptible to immune attack
hydrostatic pressure will …. while oncotic pressure ….
hydrostatic pressure pushes away from self while oncotic pressure pulls to self
first line tx for actinomyces israelii
penicillin
obligate anaerobes lack what enzymes?
ex of such bacteria
lack catalase and superoxide dismutase
clostridium, bacteroides, actinomyces
MC AE of amiodarone?
pulmonary fibrosis
isometric muscle contraction occurs when the forces applied between the physician and pt are equal. this results in increased muscle tension with no…
approximation of origin and insertion
Why would tardive dyskinesia occur with typical antipsychotics?
result from increased dopamine receptor synthesis in response to long-term receptor blockade; leads to increased sensitivity of dopamine at its receptors in the basal ganglia, altering the balance between cholinergic and dopamine input responsible for voluntary movement
Major AE of phenytoin… and how this occurs
megaloblastic anemia secondary to folate deficiency
specifically, phenytoin inhibits intestinal conjugase, which is needed to convert folate into an absorbable form
phenytoin MOA
decreasing sodium influx into neurons, thereby decreasing their ability for depolarization
does so for neurons in resting and depolarization states
also decreases influx of calcium during depolarization
Why is someone with folate deficiency megaloblastic anemia at risk for vessel thrombosis?
because of elevated levels of homocysteine, which leads to hypercoagulability
homocysteine causes destruction of arteries, does so by injuring the structural proteins elastin, collagen, and proteoglycans
Lowenstein-Jensen medium will grow
mycobacterium
appears as brown, granular colonies
the presence of Howell-Jolly bodies most frequently indicates
either absence of the spleen or splenic hypofunction secondary to repeated splenic infarctions
the only deficit seen in conduction aphasia (arcuate fasciculus) is…
inability to repeat simple phrases
may also present with inability to write and be localized to the superior temporal gyrus or inferior parietal region adjacent to the temporal lobs
Poor suckling and swallowing in a neonate could be due to…
dysfunction of CN IX, X, XII - found in jugular foramen (IX and X) and hypoglossal canal (XII) both of which are made up by the occipital bone of the cranium
what ligament is most often involved in ovarian torsion?
what is within this ligament?
infundibulopelvic ligament (suspensory ligament of the ovary)
ovarian artery (coming off the abdominal aorta) and ovarian vein
Crohn disease pts have serum antibodies that are positive for
the yeast Saccharomyces cerevisiae (ASCA)
MC AE of lidocaine use when used for arrhythmias
CNS effects
pattern of behavior in which they are socially detached and lack desire for personal relationships
shizoid personality disorder
at least one month hx of two or more of the following ssx: delusions, hallucinations, disorganized speech, disorganized or catatonic behavior, and/or negative symptoms PLUS full diagnostic criteria for either a mania or depressive episode
shizoaffective disorder
What is the only thenar muscle not innervated by the median nerve and what is it innervated by?
adductor pollicis innervated by ulnar nerve
21-hydroxylase deficiency leads to the inability of the adrenal cortex to produce…..
this is the MC form of ….
leading to….
glucocorticoids and mineralocorticoids
CAH
hypotension/salt-wasting and thus activation of the renin-angiotensin system
clinical findings of primary biliary cirrhosis
pruritis (due to bile salt deposition in the skin), hepatomegaly, jaundice, and cirrhosis with portal hypertension; Alkaline phosphatase elevated and of hepatic origin;
MC cardiovascular manifestation of syphilis?
thoracic aneurysm formation in the ascending aorta due to obliterative endarteritis of the vasa vasorum, leading to dilation of the aorta and valve ring
Write out DNA viruses
write out RNA viruses
rib classification based on morphology
Ribs 1, 2, 11, and 12 are considered atypical ribs bc of structure
ribs 3-10 are considered typical
ribs 1-7 are considered true ribs bc of attachment to sternum through costal cartilages
ribs 8-10 are false
ribs 11-12 are floating and have unique motion called caliper motion since they have no anterior attachment
more pump handle motion in upper ribs and moving down the ribs more bucket handle motion occurs
What is the MC primary CNS malignancy in adults?
glioblastoma multiforme (GBM)
genetic disease presenting with kidney failure and hearing loss; dx?
defect?
Alport syndrome
defect in the production of type IV collagen, the predominant collagen found in the basement membrane, making filtering by the kidney suboptimal, pt gets hematuria and proteinuria
drug of choice for Mycoplasma pneumoniae causing CAP
second gen tetracyclines (doxy) and macrolides (azithro)
MOA of azithromycin
binds 50S ribosomal subunit of susceptible microorganisms and blocks dissociation of peptidyl tRNA from ribosomes
RNA dependent protein synthesis to arrest
MOA of fluoroquinolones
inhibit DNA topoisomerase/gyrase
rifampin MOA
inhibits DNA-dependent RNA polymerase by binding to beta-subunit, which in turn blocks RNA transcription
Acetozolamide AE
RTA type 2 from impaired bicarb reabsorption (PCT)
K+ sparing diuretics work where?
collecting tubule, just distal to the end of the DCT
Pathology s/p MI in hours, days, and weeks
- 0-4 hours no change
- 2-4 hours - neutrophils
- after 4 hours - early coagulative necrosis
- 5-10 days - macrophages replace neutrophils
- 7-10 days - granulation tissue, type III collagen
- 7-8 weeks - dense type I collagen replaces type III
What does 5-alpha-reductase do?
presentation in pt with deficiency?
inheritance pattern?
converts testosterone to DHT, a more potent androgen
born with ambiguous genitalia, clitoral-like phallus, bifid scrotum, pseudovaginal perineoscrotal hypospadias, and a rudimentary prostate
autosomal recessive; internal genitalia are normal and LH may be normal or increased; testicles descend at puberty and some pts require HRT
What is the most common type of osteoporotic fracture? how do they present and what are they associated with?
- vertebral compression fractures (at midthoracic or throacolumbar junction)
- present with acute back pain after sudden minor trauma such as bending or lifting
- XR characteristics are commonly a/w anterior wedging of one or more vertebrae, ‘codfish’ (biconcave) deformities, and compression fx
rare cystic masses filled with cholesterol crystals and viscous fluid, calcifications may be present in this tumor
MC childhood supratentorial tumors, benign
Craniopharyngiomas
biopsy of brain tumor shows solid sheets of basophilic cells surrounding eosinophilic, circular zones devoid of cells
dx?
medulloblastoma
noncaseating granulomas of sarcoidosis can produce..
secrete 1,25 vitamin D, potentially causing hypercalcemia and hypervitaminosis D in affected individuals
rocuronium MOA
paralyze skeletal muscle through competitive antagonism of acetylcholine receptors; decreases the size of the end plate potential (EPP)
alternative to succinylcholine
hemiballismus is a lesion…
in the CL subthalamic nucleus due to structural or metabolic dysfunction
damage results in decreased production of glutamate; glutamate would normally stimulate the globus pallidus internus to release GABA and inhibit movement through the direct pathway; inhibition of this pathway will increase movement
inherited syndrome in which affected individuals are at risk for development of bilateral multifocal kidney cancer as well as various dermatologic and pulmonary lesions
Birt-Hogg-Dube syndrome
X linked disease caused by a deficient breakdown of mucopolysaccharides from lack of iduronate sulfatase activity
Hunter syndrome
how does dopamine interact with prolactin release?
dopamine binds D2 receptors on lactotrophic cells of anterior pituitary inhibiting the release of prolactin
What is the normal CRI rate?
10-14 cycles/min
radiograph shows concentric formation of new bone layers in the periosteum of the femur diaphysis in 13 yo male
dx?
genetics?
Ewing sarcoma
t(11:22) translocation
pioglitazone MOA
increases the sensitivity of tissues to insulin be increasing the transcription of insulin responsive genes
autosomal dominant disease characterized by angiomyolipomas of the skin, brain, kidneys, and other organs
tuberous sclerosis
donepezil MOA
acetylcholinesterase inhibitor
myontonic muscular dystrophy due to…
CTG repeat
an expansion tinucleotide within the dystrophyia myotonica-protein kinase (DMPK) gene
conivaptan MOA
vasopressin receptor antagonist which prevents the action of ADH in the collecting duct, allowing free water diuressis and correction of hyponatremia
CSF from LP shows increased lymphocytes, mildly decreased glucose, markedly increased protein and opening pressure
etiology?
fungal
At the start of menopause, what hormone will be increasing?
FSH
ovarin follicles become less functional, production of serum estrogen begins to decline
estrogen exhibits FB inhibition of pituitary gonadotropins, the levels of FSH an LH are relatively increased during menopaue; however, the levels of FSH generally are the first to increase
What is the predominant form of estrogen in post-menopausal women?
estrone
Where is estradiol created?
What happens to estradiol production in menopause?
estradiol is produced by the granulosa cells of ovarian follicles;
in menopause, the ovarian follicles begin to decline in function, and thus product relatively lower levels of estradiol
How do you treat aspirin toxicity?
IV sodium bicarb, hemodialysis, and volume resuscitation
Whats the difference between placenta accreta, increta, and percreta?
- accreta - placental villi attach to the surface of teh myometrium
- increta - chorionic villi penetrate into the myometrium
- percreta - chorionic villi penetrate through the myometrium to the uterine serosa or adjacent organs
When treating hepatic encephalopathy with lactulose, what is actually happening?
lactulose is nonabsorbable and is broken down by gut bacteria to lactic acid; this acidification of the gut lumen leads to the conversion of ammonia to ammonium ions and increases movement of ammonia from tissues into the gut lumen
anti-DNA-topoisomerase (anti-Scl-70) antibody
systemic sclerosis
Someone who has missed multiple days of dialysis is at risk for….
On an EKG this would present as…
uremic pericarditis
diffuse ST elevations with PR depression (most prominently in lead II) and PR elevation in aVR
What is CRP?
C- reactive protein
acute-phase reactant produced in the liver during an acute inflammatory process; also important in assisting the binding of complement to damaged cells and microbial pathogens, thus aiding in the defense against acute infections
cirrhosis of the liver would complicate the production and release of CRP
What is responsible for shifting gaze from one stationary object to another (saccades)?
frontal eye fields are primarily responsible
for smooth pursuit/tracking a moving object, what structure is involved?
cortical eye fields in multiple lobes of the brain are involved
for voluntary horizontal gaze to the left, what gets activated in order to activate the L abducens nucleus?
right cortical eye fields activate the L paramedian pontine reticular formation (PPRF)
how do corticosteroids work?
diffuse through the plasma membrane and bind to intracellular receptors; receptor-hormone complex then enters the nucleus as a dimer, binds to the glucocorticoid response element, and regulates gene transcription
this produces mRNA which travels to the cytoplasm and encodes for new DNA, which inhibits the transcription of pro-inflammatory cytokines
What is the equation for calculating t1/2?
T1/2 = 0.693 x (Vd/CL)
periarticular tophi only occur in gout if…
it is a result of chronic, long-standing gout
sickle cell anemia is an AR disorder caused by what kind of mutation located where?
point mutation of the hemoglobin B gene on chromosome 11p15.5
subs valine for glutamic acid on the B-globulin gene
micro exam of exudate shows aggregates of bacilli, shaped like safety-pins, inside macrophages; they are intracellular aggregates highlighted by bipolar stain and have been named…
etiology?
Donovan bodies
Klebsiella granulomatis
by light microscopy, this bacteria forms clumps and long parallel strands, producing a “school of fish” appearance
etiology and description on gram stain
Haemophilus ducreyi
gram negative coccobacillus
Pts with dermatomyositis will likely have elevated biomarkers of what?
which is most reliable in monitoring disease process and severity?
elevated levels of CK-MM (creatine kinase muscle isoform), aldolase, AST, ALT, and LDH
CK-MM most reliable
What percent chance does offspring have of getting an autosomal recessive disease?
25% chance (punnet square)
virus in southwest US a/w rodent feces/urine
how does this present?
hantavirus
severe, rapidly progressing pneumonia - moderate to severe respiratory symptoms that quickly (within 24 hours) worsen into ARDS, with possible hemorrhage and renal failure; severe disease is characterized by a cardiopulmonary syndrome where fluid accumulation in the lungs puts pressure on the heart that can lead to CHF
palpitations, syncope, seizures
congenital long QT syndrome
Huntington disease mutation on chromosome 4 results in
excessive nucleotide CAG repeats, which results in a longer than normal string of glutamine residues (polyQ expansion) in the N-terminal region of the protein huntingtin
What does the huntingtin protein do?
plays a role in vesicle and organelle transport along axons, and increasing the length of the polyQ region disrupts this function
How do you identify Isospora belli that can present like giardiasis?
like C. parvum, I. belli will stain positive with an acid fast stain, revealing ellipsoid-shaped cysts
distinguishing feature of methanol toxicity is
visual alterations, typically scintillations (flashes of light), scotomas, and eventually blindness if left untreated
court case that established that patients, and patient surrogates, have the right to refuse life-sustaining treatment, including artificial nutrition and hydration
Cruzan v Director
What established that HHS is the primary agency for the Emergency Support Function and covers public health and medical response, including mass care, emergency assistance, housing, and human services
Public Health Service Act, 1944
What court case established a legal precedent for informed consent?
Schloendorff v Society of New York Hospital
What Act authorizes the President to issue a disater or an emergency declaration in response to an event (or threat) that overwhelms the state or local government?
Stafford Act
What court case resulted in the determination that mental health professionals have a duty to protect individuals who are being threatened by a patient?
Tarasoff v Regents of the University of California
In a pt with kidney damage, what form of vitamin D will accumulate?
25-hydroxycholecalciferol (calcidiol) will accumulate because kidney is where it gets hydroxylated by 1-alpha-hydroxylase to 1,25-dihydroxycholecalciferol (calcitriol)
What congenital heart change is seen in Edwards syndrome?
what does it clinically present as?
ventricular sepatl defect
holosystolic murmur at the mid to lower left sternal border; normal S2 often appreciated
What is the correct management of a pt with cervical adenocarcinoma in situ?
hysterectomy, esp for pt who have complicated childbearing, as it allows the greatest reduction in risk of developing invasive adenocarcinoma
malformation of the bladder, lower abdominal wall, genitaliua, anus, and pelvic bones; clinical presentation includes a bladder, urethra, and genitalia that are open through the lower abdominal wall throughout their entire length
bladder exstrophy
the most severe presentation of EEC, includes the features of bladder exstrophy and herniation of the large intestine through the lower abdominal wall
cloacal exstrophy
irregular acanthosis, a band of lymphocytes below the epidermis, and a damaged basal layer describes
lichen planus
Pt is able to speak fluently and with comprehension, but have some difficulty finding specific words; repitition ability is lost; often aware of language difficulties – what area of the brain is affected?
conduction aphasia - lesion in arcuate fasciculus
What are the Brodmann areas that correlate with Wernickes and Brocas areas?
Brocas = Brodmann 44 and 45
Wernicke = Brodman 22
Where does the posterior scalene attach? What OMM tx is this associated with?
attaches to the superior surface of the second rib and can be used to correct exhalation dysfunctions of the second rib with muscle energy
What is the vector for cutaneous leishmaniasis?
sandfly
inoculation results in a cutaneous, nontender ulceration and regional LAD; skin lesions initially manifest as painless, erythematous papules, which can evolve into pruritic painless, oozing ulcers
What is the primary tx of nephrogenic DI?
low-solute diet and rx of hydrochlorothiazide, indomethacin, or amiloride
potent natural toxin that can cause lethal pulomonary edema and destruction
How would you tx this?
ricin
supportive wiht airway support and adequate ventilation
Cocaine use in pregnancy is correlated with
placental abruption, IUGR, and increased risk for pre-term labor and delivery;
infants exposed deliver earlier, have lower birth weights, are more prone to resp distress syndrome and congenital syphilis, and have longer hospital stays
increased risk for CNS complications and developmental delay
Pts with carnitine palmitoyltransferase deficiency will clinically have…
what labs will you notice?
rhabdomyolysis and/or myoglobinuria
elevated CK and urine myoglobin
A high V/Q ratio is consistent with a …. while a low ratio is consistent with…
PE
airway obstruction
In a person standing upright, where will be the greatest V/Q ratio?
apex of the lung has greatest V/Q ratio
Where in the lung of an upright person is pulomonary compliance greatest?
greater at the base than the apex
bosentan MOA
txs pulmonary htn by competitively antagonizing endothelin-1 receptors, thus decreasing pulmonary vascular resistance
PAS positive stain with otherwise celiac symptoms
Whipple disease
Common type II hypersensitivity reactions
ABP mismatch, Goodpastures, Rh hemolytic disease of the newborn, myasthenia gravis
Pt with vWD would show what type of blood tests?
What can help make the dx?
normal platelet count
increased BT
normal PT
PTT can be normal or slightly elevated
Ristocetin-induced platelet agglutination (RIPA) assay can help make the diagnosis
How do you treat vWD?
mild cases tx’d with desmopressin acetate, raises the pts own plasma lavels of vWF by inducing release of vWF in the Weibel-Palade bodies in the endothelial cells
women with heavy periods - OCPs
deletion of the MECP2 gene on the X chromosome
dx?
what does this gene normally do?
how does the disease present?
Rett syndrome
MECP2 gene is translated into methyl-CpG binding protein 2, which is responsible for regulating expression of other genes through methylation.
present at 1-4 yo with regression of social interaction, inability to speak, and characteristic midline hand movements such as wringing or clapping; in early infancy signs are nonspecific and include hypotonia and lack of interaction; later signs include sz, rigidity, and loss of ambulation
10 yo male with acroparesthesias, non-blanching reddish-blue capillary lesions (angiokeratomas), telangiectasias of the groin and hip, and LV hypertrophy
dx?
deficiency?
Fabry disease
X linked recessive lysosomal storage disease due to a deficiency in the lysosomal enzyme alpha-galactosidase A
accumulation of ceramide trihexoside
neuropraxia of the upper trunk of the brachial plexus
Erbs palsy
acid fast oocysts in stool sample
Cryptosporidium parvum
MC organism in acute bacterial parotitis
S. aureus
MCC of dental caries?
What else can this cause?
S. mutans
if leaked into blood stream, can cause endocarditis
MEN1 presentation
menin mutation - affects histone regulation
tumors in parathyroid, pituitary, GI neuroendocrine tissues (gastrinomas, insulinomas, and carcinoid tumors) and the skin (angiofibromas and collagenomas)
MEN2 presentation
mutation in RET oncogene
medullary thyroid cancer and pheo
MEN2A: parathyroid hyperplasia
MEN2B: mucosal neuromas and Marfanoid habitus
familial medullary thyroid carcinoma
What nerve innervates the adductor pollicis muscles?
ulnar nerve
What kind of staining would confirm the presence of a leiomyosarcoma?
desmin staining in a retroperitoneal mass
vimentin, h-caldesmon, and actin (will be positive but don’t always confirm)
Ciprofloxacin MOA
fluoroquinolone derivative that inhibits bacterial DNA topoisomerase II (DNA gyrase)
Where is parasympathetic innervation to the kidneys from?
vagus through OA, C1, and C2
niacin tx of hypercholesterol MOA
decreasing the amount of VLDL secreted by hepatocytes into the circulation; also blocks lipolysis in adipose tissue, reduces plasma fibrinogen levels, and has been shown to raise HDL-C by 30% by reducing lipid transfer of cholesterol from HDL to VLDL
What are spider naevi/angiomas caused by in pts with cirrhosis?
what is another dermatologic manifestation due to this cuase?
increased level of estrogen from decreased metabolism of estrogen by the liver; estrogen stimulates arteriole dilation and impaires arteriole sphincter function - this allows small veins to carry away free-flowing blood, creating the distinct “spider leg” appearance
hyperestrinism can also lead to palmar erythema
How would an isolated interosseous injury present?
inability to make an O with the thumb and forefinger
What nerve innervates the interosseous muscles?
ulnar nerve
How would you treat hemophilia A if pt was planning on going into a minor surgery?
Desmopression - can promote the release of factor VIII, vWF, and t-PA by binding to V2 receptors which facilitate their endothelial release
useful for minor bleeding episodes and surgical prophylaxis only and will decrease PTT
What is the first step in heme synthesis?
what is the catalyst?
what would inhibit its formation?
formation of delta-aminolevulinic acid from combination of glycine and succinyl CoA
catalyzed by ALAS and cofactor B6
hemin
What is the first step in the Krebs cycle?
addition of oxaloacetate and acetyl-CoA forming citrate
ssx: painful abdomen, pink urine, polyneuropathy, and psychological disturbances
accumulation of porphobilinogen
dx?
defect in?
acute intermittent porphyria
defect in porphobilinogen deaminase
accumulation of uroporphyrin in pt’s urine
dx?
defect in?
porphyria cutanea tarda
defect in uroporphyrinogen decarboxylase enzyme
triad of ovarian fibroma with ascites and pleural effusion
Meigs’ syndrome
HMG-CoA reductase inhibitors ultimately reduce the rate of
mevalonate production
What do you use to treat inhaled anthrax if recommended cipro and doxy are unavailable?
raxibacumab
binds and neutralizes the Bacillus anthracis toxin by binding to the free protective antigen component
can be used as adjuvant or as prophylaxis in pts with high risk of exposure
indication for eculizumab
PNH to prevent formation of MAC on hemoglobin molecules; mab binds to C5 and blocks cleavage of C5 into C5a and C5b, which is required for formation of MAC
What do the different serotypes of Chlamydia cause?
- A, B, C
- trachoma - chronic keratoconjunctivitis that is commonly seen in areas of poor sanitation
- A, B, C
- D-K
- variety of STIs - non-gonococcal urethritis, mucopurulent cervicitis, salpingitis, neonatal conjunctivitis, and neonatal pna
- L1-L3
- lymphogranuloma venereum (LGV)
presents in childhood, but is highly variable; affects many organ systems including brain, skin, kidneys, heart, lung, and liver
pts develop benign tumors in these various organs
most pts will have a cutaneous manifestation of the disease including Shagreen patches, ash leaf spots, and angiofibromas
cardiac rhabdomyoma, tumors in the brain (tubers) resulting in seizures
mild mental retardation
tuberous sclerosis
What is the MC manifestation of tuberous sclerosis in the kidneys?
angiomyolipoma
typically asymptomatic but can increase in size until there are symptoms or bleed
How can epi prolong the duration of anesthetic action?
induce vasoconstriction thus limiting the diffusion of the local anesthetic from the site of injection
in particular alpha-1 receptor binding stimulates a Gq protein signaling pathway that causes increased vascular smooth muscle contraction, increased pupillary dilator muscle contraction and increased intestinal and bladder sphincter muscle contraction
B1 stimulation causes
increase in HR, contractility, renin release, and lipolysis
What do alpha-2 agonists do?
stimulates alpha 2 and imidazoline receptors located primarily in the rostral and ventolateral medulla; leads to decreased sympathetic outflow from the CNS and reduced plasma NE levels, lowering BP
Stimulation of beta 2 receptors does what?
vascular and nonvascular smooth muscle relaxation
a decreased carrying angle in the arm is consistent with what ulnar dx?
adducted ulna
Biopsy of temporal arteritis shows
granulomas with giant cells
