163 terms



Terms in this set (...)

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