163 terms



Terms in this set (...)

sturge weber syndrome (encephalotrigeminal angiomatosis)
congenital and non inherited
sporadic/port wine stain
-tram track calcifications
-GNAQ gene
tuberous sclerosis
-mitral regurg
-ash leaf spots
-cardiac Rhabdomyoma
-tuberous sclerosis
-auto dOminant
-renal Angiomyolipoma
-shagreen patches
NF type 1 (von recklinghuasen)
cafe au lait spots and freckling in axilla
lisch nodules in iris
-mutated NF1 tumor suppressor on chromosome 17
-neural crest derived
-bone tumors
von hippel lindau
hemangioblastomas in retina and cerebellum causing ataxia and HA
alzheimer disease altered proteins
Apo E2 decreases risk
Apo E4 increases risk (4>2)
APP, presenilin 1 and 2
findings in alzheimer (micro)
decreased Ach
Abeta amyloid from Amyloid precursor protein
-neurofibrillary tangles-tau protein
acute disseminated postinfectious encephalomyelitis
inflamm and demyelination after infection or vaccination
-looks like MS but spots occur all at once
charcot marie tooth disease
peripheral nerve disorders with defective protein
-pes cavus, LEx weakness
krabbe disease
AR lysosomal storage disease
metachromatic leukodystrophy
lysosomal storage disease with arylsulfatase A deficiency-->destruction of myelin sheath
-infant with motor delay that dies
progressive multifocal leukoencephalopathy
destruction of oligodendrocytes causing demyelination
-in AIDs pts with JC virus reactivation
x linked genetic disorder with disruption of long chain fatty acids that build up in nervous, adrenal, and testes
crosses corpus callosum (butterfly)
-pseudopalisading pleomorphic tumor cells
-stained with GFAP
dural tumor from arachnoid cells in falx cerebri
-whorled psammoma bodies
cerebellar tumor of BVs associated with von hippel lindau syndrome
at cerebellopontine angle CN 8
-central vertigo presentation
frontal lobe tumor with fried egg appearance and chickenwire capillary pattern
pituitary adenoma*
prolactinoma that presents with bitemporal hemianopia
childhood tumor of rathkes pouch
-confused with pit adenoma
-mixed hormone picture with calcification
-motor oil fluid appearance
pilocytic low grade astrocytoma
childhood cerebellar benign tumor
-rosenthal fibers
malignant cerebellar tumor
-compresses 4th ventricle and causes drop metastases to spinal cord
-homer wright rosettes with small blue cells
psammoma bodies
papillary carcinoma of thyroid
serious papillary cystadenocarcinoma of ovary
4th ventricle tumor with perivascular rosettes
can cause parinaud syndrome-->vertical gaze palsy
-precocious puberty in males from bhCG production
mccune albright syndrome
mutation affecting G protein signaling
-unilateral cafe au lait spots, precocious puberty, and endocrine abnormalities
-only can survive if pt is mosaic
difference between gardners syndrome and familial adenomatous polyposis
both mut of APC gene. gardners has osteomas on mandible
trinucleotide repeat disease
Fragile x CGG
Friedreich ataxia GAA
Huntington CAG
MYotonic dystrophy CTG
x girlfriends first aid helped ace my test
duchenne musc dystrophy
frameshift mutation of dystrophin causing inhibited muscular regeneration
-hypertrophied calves, gowers maneuver, dilated cardiomyopathy
-high CK and aldolase
function of dystrophin
connects intracellular cytoskeleton to transmembrane proteins alpha and beta dystroglycan
becker musc dystrophy
non frameshift insertion of dystrophin
myotonic dystrophy
AD CTG trinucleotide repeat expansion of DMPK
-my tonia, my testicles, my toupee, my ticker
patau syndrome
trisomy 13
microcephaly, cleft, holoprosencephaly, polydactylyl
cri du chat syndrome
microdeletion of short arm of chromosome 5
-microcephaly, high pitched crying, mental disability
williams syndrome
microdeletion of long arm of chromosome 7 (elastin gene)
-elf face, hypercalcemia, friendliness
catch 22 of di george syndrome/ velocardiofacial syndrome
cleft palate
-abnormal facies
-thymic aplasia
-cardiac defects
defect in 3rd and 4th brachial pouches
encapsulated bacteria
strep pneumo
h flu type b
neisseria meningitidis
e coli
klebsiella pneumo
Please SHINE my SKiS
t cell location in spleen
PALS in white pulp
b cell location in spleen
follicle in white pulp
macrophage location in spleen
marginal zone
nuclear remnant name in post splenectomy pts
howell jolly bodies
thymus embryonic derivative
third pharyngeal pouch
para-aortic lymph node drainage
testes, ovaries, kidneys, uterus
internal iliac lymph node drainage
anus above pectinate line, bladder, vagina, cervix, prostate
superficial inguinal lymph node drainage
anal canal below pectinate line
skin below umbilicus, scrotum, vulva
hypersensitivities ACID
Immune complex
delayed T cell
type I hypersensitivity
anaphylactic and atopic
-IgE mediated to preformed antibody
type II hypersensitivity
IgM and igG
-by Complement, Opsonization, and neutralization (CONnect to antigens)
direct vs indirect coombs test
type II Rh reaction
direct-Abs vs mothers RBCs
indirect-Abs vs baby's RBCs
type III hypersensitivity
immune complex and vasculidities
3 things-antigen-ab-complement
-SLE most notable
arthus reaction vs serum sickness
arthus is localized
immune complex disease (type III) where they are deposited in membranes
Type IV hypersensitivity
sensitized T cell-delayed
-4 Ts
-t cells
transplant rejection, TB, touching (dermatitis)
why must IgA deficient individuals receive blood products without IgA
anaphylactic reaction to antibodies
common variable immunodeficiency
acquired in adulthood
-defect in B cell differentiation
-common to have AI disease or lymphoma
x linked bruton agammaglobulinemia
BTK defect
no B cell maturation
-x linked (boys)
absent lymph nodes
di george syndrome (thymic aplasia)
22q11 deletion
Cardiac abnormality
Abnormal facies
Thymic aplasia
Cleft palate
-3rd and 4th pharyngeal pouch
IL-12 receptor deficiency
decreased Th1 response and decreased IFN gamma causing recurrent TB infections
AD hyper IgE syndrome (job)
deficiency in Th17 cells from STAT3 mutation
coarse facies
-abscesses (staph)
-teeth (primary retained)
-Derm (eczema)
what cell is dysfunctional with recurrent mucocutaneous candida
T cells
causes of SCID
defective IL-2R
-adenosine deaminase
ataxia telangiectasia
defect in ATM gene, cannot repair DNA
-spider angiomas, ataxia, and igA
-increased AFP
what causes hyperIgM syndrome
defective CD40L
wiskott aldrich syndrome
mutated WAS gene
wiskott aldrich
-recurrent infections
-decreased IgM
disease with delayed separation of umbilical cord and defect in LFA 1 integrin
leukocyte adhesion deficiency
chediak higashi syndrome
defect in lysosomal trafficking regulator gene (LYST)
-microtubule dysfunction
-partial albinism, coag defects, neuropathy
chronic granulomatous disease
defect in NADPH oxidase causing decreased ROS
-catalase + org infections
catalase + organisms
e coli
b epacia
H pylori
encapsulated organisms
Please SHINE my SKiS
strep pneumo
H flu B
N. menin
E coli
what cells must be deficient to get encapsulated infections
B cells
difference between thyroglossal and branchial cleft cysts
thyroglossal are midline and move with swallowing, branchial the opposite
where does the adrenal medulla arise from
neural crest
anterior pituitary arises from wehre
rathke pouch (oral ectoderm)
where is the posterior pituitary derived rom
insulin receptors on brain and placenta
glut 1 and 3
insulin receptors on RBCs
glut 1
bidirectional glut receptor
glut 2
in beta islet, liver, kidney, small intestine
insulin independent cells
brain, RBCs, intestine, cornea, kidney, liver
(places that need a lot of blood)
what adrenergic receptor increases insulin release
beta 2
(think albuterol)
what hormone is negatively controlled by dopamine, positive?
what pituitary hormone is negatively regulated by prolactin
what hormone negatively feedbacks GH
receptors that detect serum osmolarity
V2 receptors
receptors that detect BP
V1 receptors
BP and hormone levels in 17alpha hydroxylase
increase BP, decrease sex hormones
BP and hormone leevls in 21 hydroxylase
decreased BP, increased sex hormones
11beta hydroxylase BP and hormone levels
increased BP and increased sex hormones
11 deoxycorticosterone has weak mineralocorticoid activity
MOA behind cushing disease hyperglycemia and striae of cushing
insulin resistance from increased gluconeogenesis
-decreased fibroblast activity cause thinning of skin
MOA behind thin limbs and osteoporosis of cushing disease
decreased ostoblast formation and proteolysis
how does cortisol cause decreased inflammatory response
inhibits production of leukotrienes and prostaglandins
-blocks IL2 production
effect of alkalosis on extracellular ca
hypocalcemia because increases affinity of Ca to albumin
PTH effect on vit D
increases synthesis by stimulating 1 alpha hydroxylase that causes conversion in kidney
monkeberg sclerosis
calcification of internal elastic lamina and media of medium sized arteries showing pipestem appearance on xray
ebstein anomaly
lithium exposure during pregnancy
-displacement of tricuspid valve leaflets downward into the RV
eisenmenger syndrome
LR shunt becomes RL shunt because of pulmonary arterial hypertension
what heart syndrome is associated with turner syndrome and what imaging sign is seen
coarctation of the aorta with notched appearance on CXR
what heart defects are 22q11 syndromes associated with
truncus arteriosus and t. of fallot
dressler syndrome and when does it occur
occurs 2 wks post MI
macrophages present cardiac antigens on MHCII causing immune response
when do neutrophils appear post MI
12-24 hrs
major complication of MI after 1-3 days
major complication of MI after 3-14 days
free wall rupture
papillary muscle rupture
pseudoaneurysm with rupture
major complication of MI 2 wks
true ventricular aneurysm with mural thrombus
dressler syndrome
coronary steal syndrome
administration of vasodilators like adenosine dilate normal vessels but shunt blood to well perfused areas instead of toward poststenotic region
-how stress tests work
major cause of variant (prinzmetal) angina
coronary artery spasm
what effect does magnesium have on PTH
decreased magnesium=increased PTH
calcitonin effect
decrease bone resorption of Ca
4 main effects of thyroid hormones
brain maturation
bone growth
beta1 receptor activation
basal metabolic rate
4 bs
what enzyme converts T3 to T4
5 deiodinase
wolff chaikoff effect
excess iodine inhibits thyroid peroxidase to decrease thyroid hormone production
coupling of T4
coupling of T3
what enzyme oxidizes and organifies iodide and couples thyroid hormones
thyroid peroxidase
cAMP hormones
ADH v2
IP3 endocrine hormones
cushing disease
ACTH secreting pituitary adenoma
high dose dexamethasone suppression test with no suppression
ectopic ACTH (SCLC)
high dose dexamethasone suppression test with suppression
cushing disease
suppressed ACTH cushing syndrome causes
exogenous glucocorticoids or adrenal tumor
waterhouse friderichsen syndrome
cause of primary adrenal insufficiency by DIC or neisseria
Conn syndrome
primary hyperaldosteronism from adrenal adenoma
no hypernatremia because aldosterone escape increases ANP
tumor of adrenal medulla (NCC) of children in sympathetic chain
-crosses midline with dancing eyes and feet
neuroblastoma labs
increased HVA and VMA (catecholamine)
-homer wright rosettes
n-myc oncogene associated
tumor of adrenal medulla in adults
10% malignant, bilat, extra adrenal, calcified, kids
sx of pheochromocytoma
secretes epi, norepi, or dopamine-->episodic HTN
-5 ps
pressure (bp), pain (HA), perspiration, palpitations, pallor
tx for pheochromocytoma
irreversible alpha antagonists (phenoxybenzamine) THEN betat blockers because it can cause HTN crisis
congenital hypothyroidism (cretinism)
pot belly
puffy face
protruding umbilicus/tongue
poor brain dev
hashimoto thyroiditis associations
non hodgkin lymphoma
hurthle cells
disorder of antithyroid peroxidase
subacute granumoatous thyroiditis de quervain
self limiting disease of thyroid following flu with tender thyroid
Riedel thyroiditis
thyroid replaced with fibrous tissue with fixed, hard, painless goiter
graves disease pathophys
igG type II rxn that stimulates TSH receptors
tx for hyperthyroidism
potassium iodide
general tx for vasculitis
corticosteroids and possibly cyclophosphamide
what vasculidities are associated with pANCA
microscopic polyangiitis and eosinophilic granulmoatosis with polyangiitis (churg strauss)
takayasu arteritis
pulseless disease of UEx because of involvement of aortic arch
asian females<40
increased ESR
polyarteritis nodosa
associated with Hep B
renal and GI involvement
kawasaki disease
strawberry tongue
hand/foot changes
-risk of coronary artery aneurysm
buerger disease (thromboangiitis obliterans
autoamputation of digits from smoking in males with raynauds
granulamtosis with polyangiitis (wegeners)
URI (pharynx), LRI, and renal involvement
cANCA positive for antiproteinase 3
microscopic polyangiitis
like wegeners but without nasopharyngeal involvment and no granulomas
eosinophilic granulomatosis with polyangiitis (churg strauss)
skin nodules/purpura with heart and GI sx.
p ANCA positive with high IgE. Presents like asthma
henoch schonlein purpura
vasculitis secondary to IgA complex deposition
-associated with IgA nephropathy (follows URI)
-purpura on buttocks and legs
aortic stenosis murmur
systolic crescendo decrescendo that radiates to carotids
what can be sx of aortic stenosis
pulsus parvus et tardus
syncope, angina, dyspnea on exertion (SAD)
mitral/tricuspid regurg murmur
holosystolic high pitched blowing murmur
-mitral radiates to axilla
mitral valve prolapse murmur*
late systolic with midsystolic click
louder with squatting and softer with valsalva
aortic regurg murmur
high pitched blowing early diastolic decrescendo murmur
mitral stenosis murmur
diastolic murmur with opening snap that causes thrills
phase 0 myocardium
upstroke with Na channels opening causing depolarization
phase 1 myocardium
opening of slow K channels
Na channels close
phase 2 myocardium
Ca influx causing myocyte contraction
phase 3 myocardium
rapid repolarization with K efflux
closing of Ca
phase 4 myocardium
resting potential with K influx by Na/K pump
phase 0 pacemaker
Ca influx
phase 3 pacemaker
inactivation of Ca with K efflux
phase 4 pacemaker
Depolarization from funny current causing inward Na and transient Ca influx
what phase determines HR in pacemaker cells of SA node
slope of phase 4
drugs that can cause Torsades
antiarrhythmics 1a and 3
antiemetics (odansetron)
cushing triad and what is the cause
HTN, brady, and respiratory depression from increased intracranial pressure
what are the SNS effects from chemoreceptors
increase CO by:
beta 1 causing HR and SV increase
-alpha 1 causing increased TPR
what stimulates peripheral chemoreceptors
decreased O2, increased co2, and decreased pH
what stimulates central chemoreceptors
ph and PCO2 NOT o2
net fluid flow equation Jv
rheumatic fever JONES criteria
nodules in skin
erythema marginatum
sydenham chorea (basal ganglia)
lab findings rheumatic fever
aschoff bodies (granulomas with giant cells)
-anitschkow cells (enlarged macrophages with caterpillar nucleus
-ASO titers
-type II hypersensitivity
cardiac tamponade beck triad and other sx
distended neck veins (JVD)
distant heart sounds
-pulsus paradoxus during inspiration