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Rapid Fire Facts***** > **~{{StOrAgE DiSeAsEs}}~** & bonus goodies > Flashcards

**~{{StOrAgE DiSeAsEs}}~** & bonus goodies Flashcards

1
Q

glycogen phosphorylase def

A

McArdle

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2
Q

glucose 6 phosphatase def

A

Von Gierke

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3
Q

lactic acidosis, hyperlipidemia, hyperuricemia (gout)

A

Von Gierke

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4
Q

alpha 1, 6 glucosidase def

A

Cori (less severe than Von Gierke)

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5
Q

alpha 1, 4 glucosidase def

A

Pompe

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6
Q

cardiomegaly

A

Pompe-infantile

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7
Q

Diaphragm weakness leading to resp failure

A

Pompe-adult

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8
Q

increased glycogen in liver, severe fasting hypoglycemia

A

Von Gierke

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9
Q

hepatomegaly, hypoglycemia, hyperlipidemia (normal kidney, lactate, and uric acid)

A

Cori

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10
Q

painful muscle cramps, myoglobinuria with strenuous exercise

A

McArdle

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11
Q

severe hepatomegaly, enlarged kidneys

A

Von Gierke

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12
Q

episodic peripheral neuropathy, angiokeratomas, hypohidrosis (late: renal failure, CVD)

A

fabry (def: α-galactosidase A)

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13
Q

MC lysosomal storage dz. HSM, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, lipid-laden macrophages resembling crumpled tissue paper

A

Gaucher (def: glucocerebrosidase)

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14
Q

progressive neurodegeneration, HSM, foam cells, cherry red spot on macula

A

Niemann-Pick (def: sphingomyelinase)

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15
Q

progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skin, NO HSM

A

Tay Sachs (def: hexosamidase A)

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16
Q

central and peripheral demyelination with ataxia, dementia, arylsulfatase A def

A

metachromatic leukodystrophy

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17
Q

developmental delay, gargoylism, airway obstruction, corneal clouding, HSM

A

Hurler (def: α-L-iduronidase)

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18
Q

mild Hurler + aggressive behavior, no corneal clouding

A

Hunter (“Hunters see clearly, X marks the spot” def: iduronate sulfatase)

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19
Q

urine test for ketones can detect _____ but not _____

A

can detect acetoacetate but not beta-hydroxybutyrate

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20
Q

failure of Golgi to phosphorylate mannose residues on glycoproteins so proteins are secreted extracellularly rather than delivered to lysosomes

A

I-cell disease (inclusion cell disease, def: N-acetylglucosaminyl-1-phosphotransferase)

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21
Q

coarse facial features, clouded corneas, restricted joint movements, high plasma levels of lysosomal enzymes, often fatal in childhood

A

I-cell disease

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22
Q

best diagnostic test for trichomonas

A

saline microscopy (wet mount)

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23
Q

budding yeast that form germ tubes at 37C

A

candida (frequent colonizer of skin and mucous membranes–mouth, vagina, intestine)

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24
Q

routine monitoring in pts taking olanzapine and clozapine

A

fasting glucose and lipid profile

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25
Q

treatment for severe allergic asthma

A

anti-IgE antibodies given as Sub Q injection (omalizumab)

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26
Q

neuronal cell body shows cellular edema, nucleus displaced to periphery, Nissl substance becomes dispersed

A

axonal reaction (visible 24-48 hours after injury/being severed)

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27
Q

the external branch of the superior laryngeal nerve (cricothyroid) courses together with which artery

A

superior thyroid artery

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28
Q

cafe au lait spots, endocrine abnormalities (precocious puberty, hyperthyroid), fibrous dysplasia

A

McCune Albright (GNAS mutation of alpha subunit of G protein>constitutively active AC leads to overproduction of several hormones)

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29
Q

effect of citrate on renal calculi

A

prevents calculi formation

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30
Q

how does elastin become so elastic?

A

interchain cross links involving lysine

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31
Q

what does MOTEL PASS mean?

A

neural crest structures: melanocytes, odontoblasts, tracheal cartilage, enterochromaffin cells, laryngeal cartilage, parafollicular cells of thyroid, adrenal medulla + ganglia, Schwann cells, spiral membrane (A/P septum)

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32
Q

caused by malassezia species, confined to stratum corneum, most visible after sun exposure

A

tinea versicolor

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33
Q

what increases the conversion of NE to epi in the adrenal medulla by increasing the expression of phenylethanolamine-N-methyltransferase?

A

cortisol

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34
Q

lack of orexin A and B (hypocretin 1 and 2) in CSF

A

narcolepsy with cataplexy (these neuropeptides are produced in lateral hyth and promote wakefulness)

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35
Q

what does “Park At Venture Avenue” mean?

A

Purkinje system fastest, then Atrial muscle, then Ventricular muscle, then AV node slowest conduction

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36
Q

cause of chronic lung transplant rejection

A

bronchiolitis obliterans–inflammation of small airways

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37
Q

when would you use an NK1 (neurokinin 1) receptor antagonist?

A

chemo-induced vomiting (inhibit substance P)

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38
Q

long QT syndrome with neurosensory deafness

A

Jervell and Lange-Nielson syndrome

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39
Q

what part of the bone does osteomyelitis typically effect?

A

long bone metaphysis

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40
Q

which antiarrhythmic lengthens the action potential duration but does not carry a high risk for TdP

A

amidarone

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41
Q

life threatening complication of UC, and preferred diagnostic study

A

toxic megacolon, abdominal X ray

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42
Q

how does C diphtheriae acquire its exotoxin

A

phage conversion/infection with Tox gene which codes for AB exotoxin

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43
Q

hemiballism due to lacunar stroke affects which part of the basal ganglia

A

subthalamic nucleus

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44
Q

atrophy of the caudate nucleus occurs in ____ disease

A

Huntington

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45
Q

damage to ______ in the basal ganglia results in contralateral pure motor or combined sensorimotor deficits

A

internal capsule

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46
Q

atrophy of the lentiform nucleus (globus pallidus and putamen) occurs in _____ disease

A

Wilson

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47
Q

degeneration of the substantia nigra occurs in ______ disease

A

Parkinson

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48
Q

varenicline is a partial agonist of _______ receptors and can assist with cessation of tobacco use by reducing cravings and attenuating affects smoking

A

nicotinic acetylcholine receptor

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49
Q

only prokaryotic polymerase with 5’ to 3’ exonuclease activity, used to remove the RNA primer and repair damaged DNA sequences

A

DNA Pol I

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50
Q

hospice requirements: survival prognosis of less than _ months

A

6

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51
Q

two classes of antiarrhythmics that cause TdP

A

Ia and III (quinidine, sotalol)

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52
Q

rapid acting drug with short half life, used for paroxysmal SVT, S/E=flushing, chest burning, hypoTN, AV block

A

adenosine

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53
Q

drug used for chemical stress tests

A

adenosine

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54
Q

estrogen effect on cholesterol secretion

A

increases

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55
Q

progesterone effect on gallbladder motility

A

decreases

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56
Q

milrinone (like inamrinone) is a phosphodiesterase 3 enzyme inhibitor that is used to increase cAMP concentration. what is the result on the heart?

A

increases cardiac contractility, cAMP also causes systemic vasodilation

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57
Q

half life of chlordiazepoxide, diazepam, flurazepam

A

long half life

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58
Q

benzos preferred in pt’s with impaired hepatic metab

A

LOT: lorazepam, oxazepam, temazepam

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59
Q

action of finasteride

A

inhibits 5-alpha-reductase, thus inhibiting the peripheral conversion of testosterone to DHT (for BPH and androgenic alopecia)

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60
Q

how do you treat acute dystonia (torticollis) due to antipsychotic medication?

A

D2 antagonism

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61
Q

nonbacterial thrombotic endocarditis (platelet thrombi on cardiac valve leaflets) commonly associated with…

A

advanced malignancy

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62
Q

treatment for norepi extravasation as a result of norepi IV drip (blanching of vein)

A

phentolamine–alpha receptor blocker, leads to vasodilation

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63
Q

how do herpes viruses get their envelope?

A

they bud through the host cell NUCLEAR membrane

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64
Q

how do Hep C and paramyxoviruses get their envelope?

A

budding through host cell PLASMA membrane

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65
Q

(ureteric bud/metanephric mesoderm aka blastema) gives rise to collecting system of kidney

A

ureteric bud (includes: collecting tubules and ducts, major and minor calyces, renal pelvis, ureters)

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66
Q

(ureteric bud/metanephric mesoderm aka blastema) gives rise to glomeruli, Bowman’s space, proximal tubules, LoH, and distal convoluted tubules

A

metanephric mesoderm aka blastema

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67
Q

presence of depressive symptoms for MORE than 2 years

A

persistent depressive disorder aka dysthymia (major depressive disorder is less than 2 years)

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68
Q

agenesis of the sacrum, flaccid paralysis of legs, dorsiflexed contractures of feet, urinary incontinence

A

caudal regression syndrome (related to maternal diabetes)

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69
Q

rheumatic mitral valve disease typically presents as mitral _____ within the first few decades of life

A

REGURG

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70
Q

3 D’s: diplopia, dysphagia, dysphonia

A

C botulinum

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71
Q

germ layer: Rathke’s pouch, anterior pit, lens & cornea, inner ear sensory organs, olfactory epith, nasal and oral epith, epidermis, sweat & mammary glands

A

surface ectoderm

72
Q

germ layer: brain and spinal cord, post pit, pineal gland, retina

A

neural TUBE

73
Q

germ layer: ganglia, Schwann cells, pia & arachnoid mater, aorticopulmonary septum & endocardial cushions, branchial arches, skull bones, melanocytes, adrenal medulla

A

neural CREST

74
Q

germ layer: muscles, CT, bone & cartilage, serosa linings (peritoneum), CV system, blood, lymphatic system, spleen, internal genitalia, kidney & ureters, adrenal cortex

A

mesoderm

75
Q

germ layer: GI tract, liver, pancreas, lungs, thymus, parathyroids, thyroid follicular cells, middle ear, bladder & urethra

A

endoderm

76
Q

spider angiomata associated with what hormone imbalance

A

hyper estrogenism

77
Q

what do snRNPs (protein-RNA) participate in?

A

splicing of introns

78
Q

valsalva effect on preload

A

decrease

79
Q

abrupt standing effect on preload

A

decrease

80
Q

sustained hand grip effect on afterload

A

increase

81
Q

squatting effect on preload and afterload

A

increases both

82
Q

passive leg raise effect on preload

A

increase

83
Q

effect of decreasing preload on intensity of hypertrophic cardiomyopathy murmur

A

decreases preload increases murmur because there is less blood in the LV so there is a smaller outflow opening

84
Q

when do small VSDs become audible murmurs

A

after 4-10 days, when pulmonary vascular resistance declines, allowing left-to-right shunting

85
Q

enterococci enzymes that transfer chemical groups to the antibiotic outside the bacteria–what type of resistance is this?

A

aminoglycoside resistance

86
Q

effect of coronary arteriolar dilation on ischemic areas

A

blood flow to ischemic area is REDUCED (bad! dipyridamole does this)

87
Q

Vit _ def mimics fredreich ataxia

A

E

88
Q

trisomy 21 is associated with what two cancers

A

ALL and AML

89
Q

MC adverse effect of thrombolysis

A

hemorrhage

90
Q

meconium ileus is associated with what inherited disorder?

A

CF–squirt sign negative, inspissated consistency

91
Q

Hirschprung disease is assoc with what disorder?

A

trisomy 21–squirt sign positive

92
Q

post exposure rabies prophylaxis

A

inactivated vaccine and immune globulin

93
Q

MC lab abnormality in Legionella

A

hyponatremia

94
Q

check function of which organ before starting statin therapy

A

liver (other S/E includes myopathy)

95
Q

potentially life threatening side effect of lamotrigine (seizure med)

A

S-J syndrome or toxic epidermal necrolysis

96
Q

wide, fixed splitting of S2 that does not vary with respiration

A

atrial septal defect

97
Q

uncorrected ASD can cause irreversible damage to what?

A

pulmonary vessels (leads to reversal of shunt–Eisenmenger)

98
Q

equation for statistical power

A

1-beta: ability to detect difference when one exists

99
Q

which type of error (I or II) occurs when the researchers reject the null hypothesis when the null hypothesis is really true

A

I (and II is when they fail to reject the null hypothesis, when a difference truly exists)

100
Q

how do you get hypercalcemia in sarcoidosis?

A

activated macrophages cause PTH independent production of Vit D

101
Q

white/yellow membrane-like plaques on colonoscopy

A

C diff

102
Q

best screening test for hypothyroidism

A

TSH

103
Q

what separates direct and indirect inguinal hernias?

A

inferior epigastric vessels

104
Q

failure of the _____ to obliterate leads to a persistent connection between the scrotum and peritoneal cavity through the inguinal canal

A

processus vaginalis (leads to hydrocele if opening is small, or indirect inguinal hernia if opening is large)

105
Q

diagnostic test for giant cell arteritis

A

elevated ESR and C reactive protein

106
Q

Kegel exercises strengthen which muscles involved in urethral mobility/pelvic organ prolapse

A

levator ani muscles

107
Q

what do flat, yellow, hexagonal crystals in the urine indicate, and how do you get rid of them?

A

cystinuria. tx: increase hydration and urinary alkalinization (azetazolamide)

108
Q

are hydrogen peroxide and iodine sporicidal disinfectants?

A

yes

109
Q

how do alcohols work as disinfectants?

A

disrupt cell membranes, denature proteins

110
Q

what vitamins do enteric bacteria produce (and thus, bacterial overgrowth leads to overproduction)

A

Vit K and Folate

111
Q

DOC for status epilepticus

A

benzo (lorazepam IV, fast onset of action)

112
Q

is bradykinin increased or decreased in C1 inhibitor deficiency?

A

increased. can lead to angioedma

113
Q

mucosal telangiectasias and recurrent severe nosebleeds

A

Osler-Weber-Rendu aka hereditary hemorrhagic telangiectasia

114
Q

what type of hernia protrudes through the Hesselbach triangle

A

direct inguinal. bordered by the inguinal ligament, rectus abdominus muscle, and inf epigastric vessels

115
Q

what type of hernia protrudes through the deep inguinal ring?

A

indirect inguinal.

116
Q

increased pH/decreased H+, decreased 2,3DPG, and decreased temperature lead to a shift of the O2-Hb curve to the ____

A

LEFT

117
Q

increased H+/decreased pH, increased 2,3DPG, and increased temperature lead to a shift of the O2-Hb curve to the ___

A

right

118
Q

major immune mechanism against Giardia

A

Secretory IgA production (mucosa!) and CD4 T helper cells

119
Q

liposarcomas are partly composed to lipoblasts which cause _____ of the nuclear membrane

A

scalloping (due to non membrane bound cytoplasmic lipid shifting periodically)

120
Q

bullae that rupture easily and lesions that affect the mouth

A

pemphigus vulgaris

121
Q

incompletely obliterated omphalomesenteric duct and contains heterotopic gastric tissue, can cause brisk but painless lower GI bleeding

A

Meckel diverticulum

122
Q

hereditary cancer syndrome with colorectal, endometrial, and ovarian cancer

A

Lynch–defect in mismatch repair

123
Q

Marfanoid body habitus plus intellectual disability and thrombosis, downward lens dislocation

A

homocytinuria (fair complexion, AR MOI, megaloblastic anemia)

124
Q

Marfanoid body habitus plus upward lens dislocation, normal intellect, upward lens dislocation

A

Marfan

125
Q

MOA of ganciclovir

A

inhibits DNA chain elongation by incorporating into viral DNA and inhibiting viral DNA pol

126
Q

flu pandemics are the result of antigenic _____, caused by genetic reassortment of hemagglutinin or neuraminidase proteins between human and animal influenza A strains

A

shift (drift=point mutations, slightly alter infectivity)

127
Q

MC cyanotic congenital heart disease, children will squat during cyanotic episodes to improve oxygenation

A

Tetralogy of Fallot (“tet spells”)

128
Q

the kyphoscoliosis variant of EDS results from an AR defect in lysyl hydroxylase, a Vit _ dependent enzyme

A

C

129
Q

what type of cells make up the regenerative nodules seen in liver cirrhosis?

A

proliferating hepatocytes

130
Q

what is associated with cystic hygromas (cystic lymphatic malformations)?

A

karyotype abnormalities (Turner, trisomy 13, 18, 21)

131
Q

MOA of cyclosporine

A

inhibits calcineurin, thus decreasing transcription of IL-2 gene

132
Q

mechanism of tardive dyskinesia

A

long term blockade of DA receptors leads to upregulation of DA receptors

133
Q

adults with postural hypoTN, exercise intolerance, nasal congestion, ejaculatory difficulties. kids with hypoTN, ptosis, hypothermia

A

dopamine beta hydroxylase def (can’t make NE from DA)

134
Q

advantage of the inactivated polio vaccine

A

cannot revert to a virulent form

135
Q

common cause of nephrotic syndrome associated with solid tumors

A

membranous glomerulonephritis

136
Q

mucormycosis can be complicated by ______ sinus thrombosis

A

cavernous

137
Q

which cells synthesize Apo B 100?

A

hepatocytes-hundo

138
Q

which cells synthesize Apo B 48

A

int8stinal

139
Q

why administer probenecid with PCN?

A

prevent PCN secretion into renal tubules (it also increases uric acid excretion)

140
Q

complication of endometriosis

A

infertility

141
Q

mechanism of primary ovarian insufficiency

A

follicular depletion through accelerated atresia/apoptosis

142
Q

prosencephalon divides into:

A

telen and dien cephalon

143
Q

telecephalon becomes what two brain structures

A

cerebral hemispheres and lateral ventricles

144
Q

diencephalon becomes what two brain structures

A

thalamus and third ventricle

145
Q

mesencephalon becomes what two brain structures

A

midbrain and aqueduct

146
Q

rhombencephalon becomes what two brain structures

A

meten and myelen cephalon

147
Q

metencephalon becomes what three brain structures

A

pons, cerebellum, upper 4th ventricle

148
Q

myelencephalon becomes what 2 brain structures

A

medulla and lower 4th ventricle

149
Q

chronic excessive alcohol use can result in _____ cardiomyopathy

A

dilated

150
Q

ACEi teratogen effect

A

renal problems/Potter sequences

151
Q

week 4 of fetal development

A

4 limb buds, 4 chambered heart

152
Q

week 8 of fetal development

A

8=gait, fetal movement

153
Q

week 10 of fetal development

A

TEN=PENis (genitalia)

154
Q

Vit A teratogen effect

A

spont abortion/Cardiac defects

155
Q

what does “microtubules get constructed very poorly” mean

A

malbendazole, griseofulvin, colchicine, vincrstine/blastine, paclitaxel

156
Q

where is ACh made

A

basal nucleus of Meynert

157
Q

where is GABA made

A

nucleus accumbens

158
Q

which hyth nuc makes oxytocin

A

paraventricular

159
Q

which hyth nuc is responsible for cooling and PNS stimulation

A

anterior

160
Q

which hyth nuc secretes GnRH

A

preoptic area

161
Q

which hyth nuc maintains the body clock

A

suprachiasmatic

162
Q

which hyth nuc is responsible for water balance/ADH

A

supraoptic

163
Q

which hyth nuc stimulates GI tract

A

dorsomedial

164
Q

which hyth nuc stimulates hunger, eating, inhibited by leptin

A

lateral=let’s eat

165
Q

which hyth nuc mediates satiety, stimulated by leptin

A

ventromedial=very full

166
Q

which hyth nuc: DA, GHRH, hunger, satiety

A

arcuate nuc

167
Q

which hyth nuc: conserve heat, SNS

A

posterior (opposite of anterior–cooling and PNS) “no p-ant’s like it s-post to be”

168
Q

which hyth nuc is affected in Wernickes

A

mammilary bodies

169
Q

which branchial arch: Meckel’s cartilage, Mandle, Malleus, Muscles of Mastication, Mylohyoid, Mandibular and Maxillary branches of trigem, Treacher Collins syndrome

A

1

170
Q

which branchial arch: Stapes, Styloid process, Stylohyoid ligament, Stapedius, Stylohyoid, cranial nerve Seven

A

Second

171
Q

which branchial arch: Pharyngocutaneous Fistula, styloPharyngeus muscle, glossoPharyngeal nerve

A

“fird” like 3rd with a lisp

172
Q

what does “Animal Kingdom, Magic Kingdom, EpCot” mean

A

Peds tumors: astrocytoma, medullablastoma, ependymoma, craniopharyngioma

173
Q

MCC damage to the flocculonodular lobe in the cerebellum

A

medulloblastoma in childhood

174
Q

what does BALSA mean?

A

drugs used for Parkinson: bromocriptine, amantadine (increase DA release), L-dopa, Selegiline (MAObi, especially good in MPTP exposure), Antimuscarinic (benztropine)

175
Q

Huntington tx

A

haloperidol, olanzapine, tetrabenzine (block DA)

176
Q

decreased ACh, increased GABA, decreased DA

A

Huntington

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