Saturday Week 1 SA Portion 2 Flashcards
in pt w B12 deficieny, supplementation w __ alone can precipitate demyelination
can also cause __ phenom like MS
in younger pt w new onset muscle fatigue w use/diplopia, think __
look for __
folate
Lhermette
MG
thymoma
retinoblastoma tumors occur via ___ 2 hit hypothesis
Conontruncal defects in Digeorge syndrome T, T, interrupted ___
primarily deficient in __ cells
pt will have normal numbers of __ cells
KOH mount from oral thrush shows dimorphic fungus as __/__/__ yeast
Knudson
truncus arteriosus, Tet of fallot, aortic arch
T
B
hyphae, pseudohyphae, budding
polyuria in DKA occurs secondary to __ diurses via glycosuria
acidemia and _ deposition in smooth muscle known to cause ab pain
see hypo__ and hyper__, __ volemia
can have hyper__ due to muscle breakdown
osmotic
carb
Na, Kalemia, hypo
ammonemia
occipital headache, cerebellar dysfunction esp w valsava and downward displacement of the cerebellar tonsils indicates __ as dx
small __
incomplete development/separation of embryonic forebrain seen w H__
chiari 1 malformation
posterior fossa
holoprosencephaly
46XY karyotype with female phenotype is __ syndrome
mutated __ receptors in body
cryptorchid testes present in ab/inguinal region, secrete __, which is peripherally converted to estradiol and __ develops
vagina ends in __
antimullerian hormone prevents formation of __/__ vagina
male ssc are ___
__ is AR disorder w ambiguous genitals at birth
look for inc __/__ ratio
LH/FSH will be ___
AIS
testosterone
testosterone, breast
blind pouch
uterus, upper vagina
absent
5AR deficieny
Test/DHT
CAH is caused by __ def
life threatening __
affected girls will ahve __ genitalia and inc __ but dec __/__
__ agenesis w amenorrhea and absence of __/__/__
LH/FSH/Estrogen is ___
21 hydroxylase
salt wastng, ambiguous
Testosterone, LH/FSH
mullerian, uterus, FT, proximal vagina
noraml
Pheo arises from __ in AM
stimulates peripheral __ and cardiac __ receptors to cause severe HTN
Phenoxybenzamine is long acting A __ to prevent peripheral VC (always 1st)
secondary beta blcokers like P/M dec adrenergic stim to heart
I__ is nonselective B agonist used in bradycardia/heart block
P__ is alpha agonist used as decongestant/pressor
chromaffin cells
A1, B2
blocker
propanolol, metoprolol
isoprotenerol
phenylephrine
IVH occurs due to rupture of the __
vasc network is __, vulnerable to damage
hemorrhage occurs in caudate/thalamus, can extend into L/3/4 ventricles
pt develops H/bulging __
look for c__/h__
__ is neuro damage as a result of hyperbilirubinemia in neonates
brain appears __
germinal matrix
weak
lateral, 3/4
hydrocephalus, AF
clots, hemorrhage
kernicterus
yellow
ototoxic drugs can tinnitus by damaging hair cells in organ of __ in cochlear membranous labrynth
occurs in apical __ of hair cells
lose ability to hear __ freq sounds
__ can cause alopecia, myocardial damage, myelosuppression
__results in myelosuppression and fatty liver
corti
stereocilia
high
etoposide
MTX
fever, SOB, dry crackles, inflam/fibrosis seen in SE of __ use
called interstital __
resolves w __/___ dose
other se include A/__ abnorms, __ skin discoloration
ILD is a SE of N/M/B
amiodarone
pneumonitiis
dec, stopping
arrhythmias, thyroid, blue/grey
nitrofurantoin, MTX, bleo
Apixiban can cause __ as se
cough, SOB, __ and fever acutely
SE of hydroxychloroquine skin __ and R___
SE of sotalol include T__ and excessive __ blockade
pt w HFrEF can get __ and pulm __
DAH
hemoptysis
pigmentation, retinopathy
TdP, beta
exacerbation, edema
PGE1 stimulates gastric epithelial __ prodxn, protecting against acid
w heavy __ use, ulcers can form
M__ is PGE1 analog to tx/prevent NSAID induced ulcers
Aspirin exacerbated airway disease presents w chronic __ and intranasal __
due to dysregulation of __ metabolism via inhibited __ enzymes
AA pumped down __ pathway, leads to formation of bronchoconstrictive leuks _/__/__
tx w M__ (leuk inhib)
mucus
NSAID
misoprostol
rhinitis, polyps
AA, COX
5lipooxygenase
C4, D4, E4
montelukast
__ releases AA from lipids
Thromboxane A2/PGI2 products of __ pathway of AA metabolism
both blocked by ___
SCC of h/n occurs in ventral __ and floor of __, __ lip
metastasizes to __/__ LN, L/L/B
Phospholipase A2
COX, NSAIDS
tongue, mouth, lower
Regional, mediastinal, lung/liver/bones
difference in phenotype in pt w same mutation is known as variable __
Marfan syndrome due to mutation in __ gene for fibrillin
important in producing __ fibers
nitrates directly __ vasc smooth muscle
results in systemic _ and dec peripheral __
lowers E__ and P__ and reduces myocardial __ by dec wall stress
also reduce A___
drop in blood pressure results in reflex ___
BB/CCB dec __ and __
expressivity
FBN1
elastic
relax
VenoD, venous return
EDV, preload, oxygen demand
afterload
tachycardia
HR/contractility
CFTR function varies from tissue/tissue bc of __ funcionaltiy of CFTR
in sweat glands, CFTR works to reabsorb __/__
if mutated, reabsorption is __ so sweat has high Na/Cl
in intestinal/res epithelium, CFTR channel normally secretes __ and stops __ reabsorption
w mutation, this is opposite, so thick/viscous sec are low in __/__
tissue specific
Cl, Na
dec
Cl, Na
Na/Cl
__ is disorder characterized by end organ resistance to PTH
defect in PTH __ and downstream __
pt will have low __/__ and high __
PT1a aka __ hereditary osteodystrophy is AD due to mutation in __ gene
encodes for alpha subunit of __
pt will have short __/__/__
also have end organ resistance to __/__/__
MTC occurs from _ producing parafollicular C cells of thyroid gland
calcitonin is __ but Ca is __
Pseudohypoparathyroid
receptor, signalling paths
PTH, Ca, Phos
Albright GNAS1 G protein stature/MC/MT LH/FSH/TSH
calcitonin
high, normal
mature mRNA hydridizied to DNA shows loops of DNA indicate area coding for __
have been __ during processing
posttranscriptional processing
__ capping, adds __ to 5’ end of primary mRNA via 5’-5’ linkage
stabilize mRNA in __
PolyA __ via __ polymerase
stabilizes __ end in cytosol
Splicing of __ from pre-MRNA to form a __ product
occurs via __
introns, spliced
5’, 7methylguanosne
cytosol
tai, polyA
3’
introns, mature
snRPs
__ is mutation in same gene locus w similar phenotypes
ie __ dz
__ is mutation of different genes w similar phenotypes
__ is mutation in same gene w diffferent phenotyeps
__ is interaction bw multiple genes that make new/mask phenotype
__ is occurrence of multiple, unrelated phenotypic manifestations in different organs
ie __ dz
__ refers to varying severity of phenotypic mutation
allelic heterogeneity
B thalassemia
genetic heterogeneity
phenotypic heterogeneity
epistasis
pleiotropy
marfans
expressivity
__ D4 is synthesized by eosinophils/mast cells
fxn in B__ and bronchial __ secretion
upregulated in __
blocked by M__
___ caused by inc GI uptake of iron
see __ disease/hepatomegaly, __ destruction and DM, arhtropathy/___, __ hormone def
inc risk of __ carcinoma
__/__ cardiomyopathy
leukotriene
bronchoconstriction, mucus
asthma
montelukast
Hemochromatosis
liver, panc islet, arthritis, pituitary
HC
restrictive/dilated
P__ is partial albinism and W__ syndrome caused by def in __ prolif/migration
seen as areas of __ at birth
diffuse hypopigmentation/albinism due to absent __ enzyme
copper is low in __ dz
abnormal pigmented, kinky __ and __
piealbinism, Waardenburg, melanocyte
tyrosinase
Menke
hair/iris
portal venous system is __ so w portal HTN, blood can flow from liver to __ resulting in splenomegaly
serolgoic test that identifies serum antibody against target antigen is __ test
known __ is fixed to well surface
patient __ is added, and antigen spec ab bind/fix in well
plate is __ to remove unbound ab
anti__ Ig is coupled to substrate modifying enzme like __
binds to antigen bound __ in well and washed
substrate modified by added __ is added to form detectable signal
valveless, spleen
ELISA antigen serum washed human, peroxidase antibodies
enzyme
pt w prolonged erythema and yellow crust has __
usually due to __/__
w S aureus, __ may form due to toxins aka __ impetigo
bacteria can be resitant to drug via formation of __ pumps
most ab cross bacterial membranes __, so efflux pumping req energy
bcteria couple efflux by moving __ against the conc gradient
when H added to media, gradient is __ and drug pumps inhibited
impetigo
Staph aureus, Group A strep
bullae, bullous
drug efflux
passively
H
destroyed
__ is AD do caused by GoF __ in FGFR3
normally inhibs __ proliferation
becomes active, restricting ___ in growth plate cartilage
prevents __ ossification
pt presents w __ digits/extremities
macrocephaly and midface __ w frontal __
inc risk of __ due to bone/CT abnorms
usually have LE __/__ w activity
achondroplasia, point mutation
cartilage
chondrocyte
endochondral
short
hypoplasia, bossing
spinal stenosis
weak/paralysis
__ is a teratogen in preg
may see __ anomalies, depressed __ bridge, __/__ anomalies as well
__ is mutated in XLA
nevessary for maturation of __
if absent, b cells cannot leave __
found on __ chromo
CF, EDS, OI found on chromosome __
PKD/TS found on chromosome __
MODY found on chromosome __
isotretinoin
ear, nasal, cardiac/neruo
BTK
B cells
bone marrow
X
7
16
20
bone marrow transplant begins w __ to destroy host bone marrow
HLA matched __ cells infused IV
stem cells travel to BM via __ signals
all hematopoetic stem cells are __ derived
thus __ cells can be present in female
radiation
donor HSC
homing
donor
male
translation of mRNA begins in __
mRNA signaled for this provess via __ terminal signal sequence
protein is __ in cytosol, and recognized by __ recognition particles
stops translation, and directs ribosome to __
there, SRP is released and polypeptide produced via RER
if there is no __ signal sequence, this mRNA will accumulate in the __
cytosol
N
translated, signal
RER
hydrophobic, cytosol
after entering RER, signal peptidase cleaves __ region from PP
protein undergoes folding/glycosylation/coupling in __
then exported to __ for modification and release
MSUD is deficiency in branched chain \_\_ requires \_\_ as cofactor I/L/V accumulate and cause \_\_ toxicity sx include poor \_\_ and V tx w \_\_ restriction
signal
RER
golgi
a ketoacid dehydro thiamine isoleucine, leucine, valine CNS feeding, vomit protein
__ is cofactor for Acetyl coa carboxylase/pyruvate carbxoylase
__ is important in single C transfers for THF synthesis of purines/thymine, AA
biotin
folate
___ is common do in SE Asia
caused by loss of __ chains
peripheral smear shows _/__ red cells
most severe form has homozygous mutation and loss of __ genes
produces Hb ___
4 gamma chains have high affinity for __ so it is not released to tissues
pt presents w ___ and death
A thalassemia
globin
micro/hypo
4 alpha globin genes
barts
O2
hydrops fetalis
Howell jolly bodies can be seen w __/__ disease
__ is AD do w spherocytes
pt presents w J/H w chronic hemolysis
pt w 1 or 2 mutations in alpha globin have __
pt w 3 mutations has __ disease
presents w chronic __
splenic SC
HS, jaudince, HSM
alpha thalassemia minor
Hb H
hemolytic anemia
seminiferous tubules/epidydimis require high conc of __ for spermatogenesis/sperm maturation to occur
normally maintained by __ released by sertoli cells
binds T/DHT to make them less __ and prevent loss
look for sertoli cell dysfxn in pt w normal / levels in serum
testosterone
ABG
lipophilic
Testosterone/LH
Glucagon binds to __ receptors in hepatocytes to activate Gs
this upregs __ and __ prodxn
PKA released, activating enzymes for glycolysis (phosphorylase kinase, glyocgen phosphorylase) and ___ (pryuvtae carbxoylase)
__ produces similar effect
binds Gprotein coupled __ receptors
activates Gs- __ second messenger system and inc __/__
Insulin acts via intrinsic __ activity
releases __ pathway for glycogen synthase/inhibits gluco
Gprotein
AC, cAMP
gluconeogenesis
epi, B2
ac, glycogenolysis/gluco
RTK
IP3
Hyperhidrosis carried out by __ nervous system
particularly in P/S/A
symp postgang __ neurons innervate eccrine/apocrine sweat glands
can tx w anticholinergic O
local anticholinergic injection B__ toxin
surgical s__ for axilla focusing on thoracic __ of T2
__ provides SNS info to H/N, tarsal, lacrimal gland, radial muscle of iris/salivary glands
greater/lesser/least thoracic splanchnic nerves provide SNS pregang neurons to __
symp
palms, sole, axillae
cholingergic
oxybutinin
botulinum
sympathectomy, symp trunk
Superior cervical ganglion
ab viscera
red safranin O used to visualize __, __ granules and mucin
articular cartilage found in __ of joints
__ form, type __ collagen
collagen, mast cell
bone
hyaline, 2
in embryo development, __ attaches to gonads in both sexes
shortening leads to pulling of gonads into __/__
in males, gubernaculum becomes __ ligament in scrotal floor
in females, inferior portion becomes __lig in inguinal canal to labia majora
superior portion is __ lig connecting ovary to uterus
__ lig connects ovary to pelvis
__ lig connects uterus to pelvis
gubernaculum
pelvis/scrotum
scrotal
round ligament
proper ovarian
suspensory
broad
episodic HA/palps/severe HTN has __ excess
could be P__ from chromaffin cells of organ of zuckerlandl
very similar to __
Epi/norepi become __/__ via COMT
broken down to __ by MAO
urinary __ is elevated in androgen secreting tumor
catecholamine paraganglioma pheo metanephrine/normetanephrine VMA
17 ketosteroid
pt w PE/DVT has __ inc ventilation/HR
__ results, dec CO2
pt gets respiratory __ w hypoxemia
hypoxemia
hyperventilation
alkalosis
