Saturday Week 1 SA Portion 2 Flashcards

1
Q

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 __

A

folate
Lhermette

MG
thymoma

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2
Q

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

A

Knudson

truncus arteriosus, Tet of fallot, aortic arch
T
B

hyphae, pseudohyphae, budding

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3
Q

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

A

osmotic
carb

Na, Kalemia, hypo
ammonemia

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4
Q

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__

A

chiari 1 malformation
posterior fossa

holoprosencephaly

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5
Q

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 ___

A

AIS
testosterone
testosterone, breast

blind pouch
uterus, upper vagina
absent

5AR deficieny
Test/DHT

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6
Q

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 ___

A

21 hydroxylase
salt wastng, ambiguous
Testosterone, LH/FSH

mullerian, uterus, FT, proximal vagina
noraml

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7
Q

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

A

chromaffin cells
A1, B2
blocker
propanolol, metoprolol

isoprotenerol
phenylephrine

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8
Q

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 __

A

germinal matrix
weak
lateral, 3/4
hydrocephalus, AF

clots, hemorrhage

kernicterus
yellow

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9
Q

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

A

corti
stereocilia
high

etoposide

MTX

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10
Q

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

A

amiodarone
pneumonitiis
dec, stopping
arrhythmias, thyroid, blue/grey

nitrofurantoin, MTX, bleo

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11
Q

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 __

A

DAH
hemoptysis

pigmentation, retinopathy

TdP, beta
exacerbation, edema

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12
Q

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)

A

mucus
NSAID
misoprostol

rhinitis, polyps
AA, COX
5lipooxygenase
C4, D4, E4

montelukast

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13
Q

__ 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

A

Phospholipase A2
COX, NSAIDS

tongue, mouth, lower
Regional, mediastinal, lung/liver/bones

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14
Q

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 __

A

expressivity
FBN1
elastic

relax
VenoD, venous return
EDV, preload, oxygen demand
afterload

tachycardia

HR/contractility

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15
Q

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 __/__

A

tissue specific

Cl, Na
dec

Cl, Na

Na/Cl

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16
Q

__ 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 __

A

Pseudohypoparathyroid
receptor, signalling paths
PTH, Ca, Phos

Albright
GNAS1
G protein
stature/MC/MT
LH/FSH/TSH

calcitonin
high, normal

17
Q

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 __

A

introns, spliced

5’, 7methylguanosne
cytosol

tai, polyA
3’

introns, mature
snRPs

18
Q

__ 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

A

allelic heterogeneity
B thalassemia

genetic heterogeneity

phenotypic heterogeneity

epistasis

pleiotropy
marfans

expressivity

19
Q

__ 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

A

leukotriene
bronchoconstriction, mucus
asthma
montelukast

Hemochromatosis
liver, panc islet, arthritis, pituitary
HC
restrictive/dilated

20
Q

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 __

A

piealbinism, Waardenburg, melanocyte

tyrosinase
Menke
hair/iris

21
Q

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

A

valveless, spleen

ELISA
antigen
serum
washed
human, peroxidase
antibodies

enzyme

22
Q

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

A

impetigo
Staph aureus, Group A strep
bullae, bullous

drug efflux
passively
H

destroyed

23
Q

__ 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

A

achondroplasia, point mutation
cartilage
chondrocyte
endochondral

short
hypoplasia, bossing
spinal stenosis

weak/paralysis

24
Q

__ 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 __

A

isotretinoin
ear, nasal, cardiac/neruo

BTK
B cells
bone marrow
X

7

16

20

25
Q

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

A

radiation
donor HSC
homing

donor
male

26
Q

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 __

A

cytosol
N
translated, signal

RER

hydrophobic, cytosol

27
Q

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
A

signal

RER
golgi

a ketoacid dehydro
thiamine
isoleucine, leucine, valine
CNS
feeding, vomit
protein
28
Q

__ is cofactor for Acetyl coa carboxylase/pyruvate carbxoylase

__ is important in single C transfers for THF synthesis of purines/thymine, AA

A

biotin

folate

29
Q

___ 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

A thalassemia
globin
micro/hypo

4 alpha globin genes
barts
O2

hydrops fetalis

30
Q

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 __

A

splenic SC

HS, jaudince, HSM

alpha thalassemia minor
Hb H
hemolytic anemia

31
Q

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

A

testosterone
ABG
lipophilic

Testosterone/LH

32
Q

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

A

Gprotein

AC, cAMP
gluconeogenesis

epi, B2

ac, glycogenolysis/gluco

RTK
IP3

33
Q

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 __

A

symp
palms, sole, axillae
cholingergic

oxybutinin
botulinum
sympathectomy, symp trunk

Superior cervical ganglion

ab viscera

34
Q

red safranin O used to visualize __, __ granules and mucin

articular cartilage found in __ of joints
__ form, type __ collagen

A

collagen, mast cell

bone
hyaline, 2

35
Q

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

A

gubernaculum
pelvis/scrotum

scrotal

round ligament
proper ovarian

suspensory

broad

36
Q

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

A
catecholamine
paraganglioma
pheo
metanephrine/normetanephrine
VMA

17 ketosteroid

37
Q

pt w PE/DVT has __ inc ventilation/HR
__ results, dec CO2
pt gets respiratory __ w hypoxemia

A

hypoxemia
hyperventilation
alkalosis