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Step1 > Step Review: Biochem, Cardio, Endocrine, Neuro > Flashcards

Step Review: Biochem, Cardio, Endocrine, Neuro Flashcards

1
Q

What two amino acids are histones rich in?

A

Lysine and Arginine (Positive charge)

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2
Q

Which strand of DNA is methylated in DNA replication?

A

Template strand (helps with mismatch repair)

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3
Q

What 3 amino acids are required for purine synthesis?

A

GAG- Glycine, Aspartate, Glutamine

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4
Q

What enzyme is impaired in orotic acicduria?

A

UMP Synthase

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5
Q

What is the MOA of mycophenolate and ribavirin?

A

Inhibit inosine monophosphate dehydrogenase (final step in purine synthesis

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6
Q

What enzyme is the rate limiting step in the production of IMP from Ribose-5 phosphate?

A

PRPP synthetase

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7
Q

In the Lac operon, where does the repressor bind?

A

Operator

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8
Q

List the steps of the cell cycle in order. When does nucleotide excision repair occur? Mismatch Repair?

A

M-G1-S-G2-repeat
G1- NER
G2- MMR

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9
Q

Mutations in non-homologous end joining can result in what?

A

Fanconi anemia, Ataxia Telangiectasia

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10
Q

Describe RNA poly I, II and III. Which RNA is the most numerous? Largest? Smallest?

A

Poly I: makes rRNA (nucleolus- most numerous)
Poly II: Makes mRNA (largest)
Poly III: makes tRNA (smallest)

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11
Q

What is the mechanism of action of alpha-amanitin toxin?

A

Inhibits RNA polymerase II

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12
Q

Where do the processes of adding the 5’ cap, polyA tail and splicing happen? Not all necessarily the same place?

A

Nucleus (hnRNA–>mRNA)

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13
Q

What are anti-Smith antibodies actually reactive to? What is associated with anti-U1 RNP antibodies?

A

snRNPs, mixed connective tissue disease

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14
Q

Which end and with what sequence do tRNAs bind amino acids?

A

3’ end with CCA

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15
Q

Does tRNA loading require energy? What about initiation of protein synthesis?

A

Yes, 1 ATP for loading, 1 GTP for initiation

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16
Q

What is occurring when Rb is hypophosphorylated? What phosphorylates it?

A

Cell cycle inhibition as Rb binds and inactivates transcription factor E2F. If a CDK phosphorylates RB–> cell cycle can progress through G1-S checkpoint. (Note: cyclins activate CDKs)

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17
Q

Where are N-linked oligosaccharides added? O-linked?

A

N-RER

O-Golgi

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18
Q

What is the defect in I-cell disease?

A

Failure of golgi to phosphorylate mannose residues due to defect in N-acetylglucosaminyl-1-phosphotransferase. This means proteins are exported rather than sent to lysosomes

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19
Q

Coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes

A

I-cell disease (often fatal in childhood)

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20
Q

What traffics proteins from:

1) Ribosome to RER?
2) Golgi to ER (retrograde)
3) ER to golgi (anterograde)
4) Trans golgi to lysosomes and plasma membrane to endosomes

A

1) Signal recognition particle (SRP)
2) COP I
3) COP II
4) Clathrin

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21
Q

Are microvilli a form of microtubule?

A

No!!

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22
Q

What has the 9+2 arrangement of microtubules?

A

Cilia (use dynein cross links to move)

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23
Q

Where is the collagen triple helix formed(involves hydroxylation)? Where is collagen cross linked? What cofactors are needed for each?

A

In RER (vitamin C), extracellularly (copper for lysyl oxidase)

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24
Q

Hyperextensible skin, tendency to bleed and hyper mobile joints? May also be associated with what vascular problem?

A

Ehlers-Danlos, berry and aortic aneurysms (joint and skin due to type V collagen, vascular problems with type III)

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25
Q

What gives elastin its elastic properties?

A

Cross-linking (this occurs extracellularly)

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26
Q

What technique is used to detect since nucleotide polymorphisms and copy number variations?

A

Microarrays

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27
Q

What is RNAi?

A

RNA interference involves dsRNA that is complementary to the mRNA sequence of interest. When transfected to human cells, dsRNA separates and promotes degradation of the target mRNA

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28
Q

Unilateral cafe-au-lair spots, polyostotic fibrous dysplasia, precocious puberty? What is the defect? What allows survival?

A

McCune-Albright Syndrome. Defect in G-protein signaling. Can only survive if patient has mosaicism (lethal if affects all cells)

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29
Q

Heterodisomy indicates an error in what stage of replication?

A

Meiosis I

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30
Q

Inheritance pattern of hypophosphatemic rickets (Vitamin D resistant rickets)?

A

X-linked dominant (increased phosphate wasting at proximal tubule)

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31
Q

Inheritance of Alport syndrome?

A

X-linked dominant

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32
Q

Mitochondrial encephalopathy, lactic acidosis and strokes? Inheritance?

A

MELAS, mitochondrial (ragged red fibers) Failure of oxidative phosphorylation causes it

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33
Q

Inheritance of hereditary spherocytosis

A

AD

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34
Q

What is the mutation in Li-Fraumeni syndrome?

A

p53 mutation (multiple malignancies)

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35
Q

Disease with numerous hamartomas?

A

Tuberous sclerosis

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36
Q

Chromosome for CF?

A

Chromosome 7 deletion of Phe508

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37
Q

What do you suspect if you see increased immunoreactive trypsinogen on a newborn screen?

A

Cystic Fibrosis

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38
Q

Difference in mutations in Duchenne vs Becker?

A

Duchenne is a deletion in dystrophin, Becker is a non-frameshift insertion

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39
Q

Common cause of death in Duchenne MD?

A

Dilated cardiomyopathy

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40
Q

What occurs in FMR1 gene in Fragile X syndrome to decrease expression?

A

Methylation

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41
Q

What is the inheritance pattern for myotonic dystrophy?

A

AD

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42
Q

Elfin face, intellectual disability, hypercalcemia, extreme friendliness, CV problems

A

Williams syndrome (C7)

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43
Q

Vitamin that can cause alopecia, hepatic toxicity, and pseudo tumor cerebri?

A

Vitamin A

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44
Q

Administration of what vitamin will result in increased transketolase activity if it is deficient?

A

Vitamin B1 (thiamine)

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45
Q

Vitamin deficiency with cheilosis and corneal vascularization?

A

B2

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46
Q

What is required for niacin synthesis?

A

Vitamins B2 and B6 plus tryptophan

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47
Q

Diarrhea, Dementia and Dermatitis?

A

Vitamin B3 deficiency

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48
Q

What is hartnup disease?

A

Deficiency of neutral acid transporters in PCT (e.g. tryptophan)

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49
Q

What vitamin is vital to transamination?

A

Vitamin B6

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50
Q

What type of reaction does the vitamin that can be depleted by raw egg whites partake in?

A

Carboxylation

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51
Q

What vitamin is needed for dopamine beta hydroxylase? What does this enzyme do?

A

Vitamin C, dopamine to NE

Vitamin C also helps absorb iron (promotes Fe3+–>Fe2+)

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52
Q

What if you see a neurologic presentation similar to vitamin B12 deficiency with no megaloblastic anemia or hyper segmented neutrophils? May even see acanthocytosis and muscle weakness

A

Vitamin E deficiency (antioxidant)

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53
Q

Deficiency if you cannot smell and have poor wound healing?

A

Zinc

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54
Q

What is fomepizole?

A

Inhibitor of alcohol dehydrogenase (antidote for methanol or ethylene glycol poisoning)

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55
Q

What three processes occur in both mitochondria and cytoplasm?

A

Heme synthesis, urea cycle, gluconeogenesis

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56
Q

Major regulator of urea cycle?

A

N-acetylglutamate

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57
Q

Major rate limiting enzymes in purine and pyrimidine synthesis?

A

Purine: Glutamine phosphoribosylpyrophosphate (PRPP) amidotransferase
Pyrimidine: Carbamoyl phosphate synthetase II

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58
Q

What are the roles of HMG-CoA synthase and reductase?

A

Synthase: Ketogenesis
Reductase: Cholesterol synthesis

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59
Q

Which shuttle produces 32 ATP in heart/liver and which produces 30 in muscle?

A

32- malate-aspartate

30: glycerol-3-phosphate

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60
Q

What mutation leads to maturity-onset diabetes of the young?

A

Glucokinase

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61
Q

Name the 5 cofactors required for pyruvate dehydrogenase. Which does arsenic inhibit? What other enzyme is virtually the same?

A

Thiamine, lipoic acid, CoA(B5), FAD, NAD
Arsenic inhibits lipoid acid
alpha-ketoglutarate dehydrogenase

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62
Q

What builds up with a pyruvate dehydrogenase complex deficiency?

A

Lactic acid and alanine

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63
Q

What enzyme converts pyruvate to oxaloacetate for gluconeogenesis?

A

Pyruvate carboxylase (B7)

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64
Q

Which enzyme in the TCA cycle is embedded in the inner mitochondrial membrane and used in Ox Phos?

A

Succinate dehydrogenase

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65
Q

At what complex to cyanide and carbon monoxide work?

A

Complex IV

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66
Q

What is a direct inhibitor of ATP synthase?

A

Oligomycin

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67
Q

Which enzyme in gluconeogenesis is in the mitochondria? Required cofactors?

A

pyruvate carboxylase, B7, ATP

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68
Q

Which gluconeogenesis enzyme utilizes GTP? What TCA step can produce this?

A

PEP carboxykinase (succinyl CoA synthetase)

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69
Q

What part of FA can enter gluconeogenesis?

A

Only odd chain via propionyl-CoA entering as succinyl CoA via malonyl CoA (Even chain cannot enter)

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70
Q

Failure to track objects or develop a social smile in an infant?

A

Galactokinase deficiency

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71
Q

What amino acid contributes one amine group in urea?

A

Aspartate

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72
Q

What does tyrosinase do?

A

Tyrosine–>DOPA–>melanin

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73
Q

What is homogentisic acid in the degradation process of?

A

Tyrosine to fumarate

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74
Q

What amino acids are not reabsorbed in cystinuria? Where?

A

COLA- Cystine, Ornithine, Lysine, Arginine in PCT and intestinal amino acid transporters

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75
Q

What does a positive urinary cyanide-nitroprusside test indicate?

A

Cystinuria

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76
Q

What form of glucose is needed for glycogen synthesis by glycogen synthase?

A

UDP-glucose

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77
Q

Increased glycogen in liver, increased lactate, increased triglycerides, increased uric acid, and hepatomegaly? Enzyme?

A

Von Gierke- Glucose 6 phosphatase

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78
Q

Why in mcardle disease do you see a second-wind phenomenon?

A

Increased muscular blood flow. Muscle glycogen phosphorylase

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79
Q

Episodic peripheral neuropathy, angiokeratomas, hypohidrosis? Enzyme? What builds up? What kills them?

A

Fabry disease, alpha-galactosidase A, ceramide trihexoside, renal failure or CV disease late

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80
Q

pancytopenia, HSM, bone problems/pain. Enzyme?

A

Gaucher (glucocerebrosidase)

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81
Q

What builds up in Tay-Sachs?

A

GM2 gangliosidase

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82
Q

Gargoylism, corneal clouding, HSM. Enzyme?

A

Hurler (alpha-L-iduronidase)

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83
Q

Two causes of hypoketoic hypoglycemia?

A

Carnitine deficiency or acyl-CoA dehydrogenase deficiency

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84
Q

In alcoholism, where is oxaloacetate shunted? Why?

A

Malate, regenerates NAD+

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85
Q

How long in starvation does glycogen last?

A

1 day

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86
Q

What molecule inhibits the carnitine shuttle? Where does it come from?

A

If fatty acid synthesis is occurring, malonyl-CoA is being used and inhibits the carnitine shuttle and thus stops futile creation of FA

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87
Q

What apolipoprotein is a LPL cofactor? What disease is this implicated in?

A

C-II, type I familial dyslipidemia (hyperchylomicronemia)

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88
Q

What apolipoprotein is associated with chylomicron secretion? Remnant uptake? LDL receptor binding?

A

B-48
E
B-100

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89
Q

Which two lipoproteins carry the most cholesterol?

A

HDL and LDL (in opposite directions)

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90
Q

How is LDL taken up in target tissues?

A

Receptor mediated endocytosis

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91
Q

Which two apolipoproteins are “stored” on HDL?

A

E and C

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92
Q

What does alcohol do to HDL synthesis?

A

Increases it

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93
Q

What is the problem in type IIa familial hypercholesterolemia? Inheritance?

A

Absent/defective LDL receptors, AD

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94
Q

What is type IV dyslipidemia? What can result?

A

HyperTGemia, overproduction of VLDL by liver. High TGs can cause acute pancreatitis

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95
Q

What is the prosencephalon?

A

Forebrain–>Telencephalon and Diencephalon(thalamus and hypothalamus)

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96
Q

Which portion of the brain forms the fourth ventricle?

A

Rhombencephalon–>Metencephalon (Pons, Cerebellum), Myelencephalon

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97
Q

Which portion of the brain forms the cerebral aqueduct?

A

Mesencephalon (midbrain)

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98
Q

What does increased AChE on an amniotic fluid tap suggest?

A

Neural tube defect

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99
Q

What is anencephaly associated with?

A

maternal type 1 diabetes

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100
Q

Signaling pathway for holoprosencephaly? Associations?

A

sonic-hedgehog, patau and FAS

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101
Q

What spinal tracts are associated with syringomyelia? Normal Level? Association?

A

Spinothalamic (anterior white commisure), C8-T1, chiari I malformation (headaches, Drake Hardy’s sis)

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102
Q

What tongue muscle is innervated by CN X? What does it do?

A

Palatoglossus (elevates posterior tongue during swallowing)

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103
Q

What neural cells do HIV infect?

A

Microglia

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104
Q

What neural cells are responsible for reactive gliosis to neural injury?

A

Astrocytes

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105
Q

Where is the inflammatory infiltrate in GBS? CSF finding?

A

Endoneurium (single nerve fiber), isolated increase in protein

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106
Q

What nerve covering must be rejoined in microsurgery? Function?

A

Perineurium, Permeability barrier

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107
Q

Where is GABA produced? ACh? NE? Serotonin?

A

GABA- Nucleus accumbens
ACh- Basal nucleus of Meynert
NE- Locus ceruleus
Serotonin- Raphe nucleus

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108
Q

What type of edema do you get with destruction of the BBB?

A

vasogenic

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109
Q

What molecule makes you feel full? Where?

A

Leptin, ventromedial hypothalamus

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110
Q

What causes extra ocular movements during REM sleep?What NT is increased during this stage? Memory or No?

A

Paramedian pontine reticular formation (PPRF, conjugate gaze center). ACh, Yes

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111
Q

Preferred tx for sleep enuresis?

A

Desmopressin (oral) is preferred over imipramine

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112
Q

What is the final visual destination past the lateral geniculate nucleus?

A

Calcarine sulcus

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113
Q

What is the dopaminergic pathway that results in positive symptoms? Extrapyramidal symptoms?

A

Mesolimbic, Nigrostriatal

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114
Q

Which cerebellar peduncle is the output? Which receives input from ipsilateral spinal cord? Contralateral cortex?

A

Superior, Inferior, Middle

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115
Q

If you injure the left cerebellar laterally, which direction do you fall?

A

Left

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116
Q

What does dopamine input do to the direct and indirect basal ganglia pathways?

A

Stimulates direct (D1), inhibits indirect (D2), both facilitate movement

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117
Q

What type of tremor is worsened with movement or anxiety? Treatment?

A

Essential tremor. Often patients self medicate with alcohol but we prefer propranolol or primidone

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118
Q

Hemiballisimus is associated with what nucleus?

A

Contralateral subthalamic

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119
Q

What are Lewy bodies composed of? What are they associated with? Intracellular or extracellular?

A

alpha-synuclein, Parkinson, intracellular

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120
Q

What causes neuronal death in huntington’s?

A

NMDA-R binding and glutamate excitotoxicity

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121
Q

Where is the wernicke area of the brain?

A

Superior temporal gyrus

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122
Q

What is always intact with transcortical aphasia of any type? (Name tells you the rest)

A

Repetition (watershed areas without actual areas)

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123
Q

What disease is associated with Kluver-Bucy Syndrome?

A

HSV-1 encephalitis

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124
Q

Which parietal cortex injury results in hemineglect?

A

Non-dominant (usually right)

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125
Q

Agraphia, acalculia, finger agnosia, L-R disorientation

A

Gerstmann syndrome, dominant parietal cortex

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126
Q

What brain lesion causes the eyes to look away from side of lesion? Toward?

A

Away- Paramedian pontine reticular formation (PPRF)

Toward- Frontal eye field (look For lesion)

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127
Q

Cerebral perfusion relies on what gradient? What usually modulates it?

A

MAP-ICP gradient, generally driven by Pco2 unless severe hypoxia (Po2

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128
Q

Contralateral paralysis and/or sensory loss with the absence of cortical signs suggests a stroke where?

A

Lenticulostriate artery (internal capsule), usually due to hypertension (lacunar infarct)

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129
Q

What would you suspect with a chronic hypertension patient with thalamus or basal ganglia stroke? (internal structures)

A

Charcot-Bouchard microaneurysm

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130
Q

Aneurysm where can compress optic chiasm? CN III?

A

ACA, PCA

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131
Q

Where is the lesion in a stroke patient who has allodynia weeks to months after stroke? What is this called?

A

Thalamic lesion, Central Post-Stroke Pain Syndrome

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132
Q

Skull fracture can cause what type of hematoma? What do patients look like?

A

Epidural (talk then die)

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133
Q

What is xanthochromia and what should you be worried about?

A

Bloody or yellow spinal tap, subarachnoid hemorrhage

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134
Q

What do you suspect in a pt. who had a subarachnoid hemorrhage and 4-10 days later has symptoms of an ischemic infarct (e.g. neural sx). Treatment/prevention?

A

Vasospasm, nimodipine

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135
Q

When do you see red neurons?

A

12-48 hours post ischemia

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136
Q

Most likely cause of brain embolism?

A

Atrial fibrillation (potentially could be a DVT with a patent foramen ovale)

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137
Q

Where do dural venous sinuses empty?

A

Internal jugular vein

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138
Q

What sinus does the ophthalmic vein drain into?

A

Cavernous sinus

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139
Q

What is the foramen of monro?

A

Connects lateral ventricles to 3rd ventricle

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140
Q

Risk factors for idiopathic increase in ICP (pseudo tumor cerebri)

A

Vitamin A excess, danazol, tetracycline

CN VI palsy without change in mental status

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141
Q

Where does spinal cord end? Where does subarachnoid space end?

A

L1-L2 border, S2 (lumbar puncture is at L3-L5)

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142
Q

Which type of motor neuron lesion gives you fasciculations?

A

LMN (twitching due to under stimulation)

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143
Q

What is the difference in poliomyelitis and werdnig hoffman disease?

A

Polio is asymmetric, WH is symmetric (both are floppy baby)

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144
Q

What enzyme can cause ALS?

A

Defect in superoxide dismutase 1 (SOD1)

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145
Q

Where does poliovirus replicate before entering CNS?

A

oropharynx and SI (fecal-oral transmission)

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146
Q

What is the chromosome for Friedreich ataxia? What is the gene? What does the gene do, what dysfunctions as a result?

A

c9, frataxin (iron-binding protein that leads to mitochondrial dysfunction)

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147
Q

How does Friedreich ataxia present? Cause of death?

A

kyphoscoliosis in childhood. Also has diabetes and hypertrophic cardiomyopathy which kills them

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148
Q

What are the functions of the superior and inferior colliculi?

A

Superior- conjugate vertical gaze center
Inferior- hearing
“eyes above ears”

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149
Q

Paralysis of conjugate vertical gaze causes and name?

A

Parinaud syndrome: pinealoma, stroke, hydrocephalus

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150
Q

Where does the middle meningeal artery exit? CN VII? CN X?

A

MMA- foramen spinosum
CN VII- internal auditory meatus
CN X- jugular foramen (with CN IX and XI)

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151
Q

What cranial nerve does not have a thalamic relay to cortex?

A

CN I

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152
Q

What muscle does CN IX innervate?

A

stylopharyngeus (elevation of pharynx and larynx)

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153
Q

What does “everything wet in the head?” Exception?

A

Facial nerve with the exception of the parotid gland which is innervated by CN IX

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154
Q

What cranial nerve nucleus does taste?

A

Nucleus solitarius

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155
Q

Where does the vagus nerve have motor activity? PSNS?

A

Motor- nucleus aMbiguus- pharynx, larynx, esophagus

PSNS- Dorsal Motor Nucleus- Heart, lungs, upper GI

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156
Q

What reflex is all one nerve? Branches?

A

Jaw jerk V3 both ways (muscle spindle)

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157
Q

What muscle opens the mouth?

A

Lateral pterygoid

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158
Q

Does UMN or LMN lesion of facial nerve spare the forehead?

A

UMN. Nucleus for forehead is innervated by UMN from both sides

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159
Q

Treatment for Bell palsy?

A

Corticosteroids, acyclovir

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160
Q

Nerve most susceptible to injury in cavernous sinus?

A

CN VI

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161
Q

What is a cholesteatoma? Due to fat and cholesterol?

A

Overgrowth of desquamated keratin debris within middle ear space that can erode ossicles and cause conductive hearing loss. Looks like a nasty thing behind eardrum. NOOOOO!

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162
Q

What are the layers on the back of the eye from inner to outer?

A

Retina, choroid, sclera

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163
Q

What muscarinic fibers are in the eye? What do they do?

A

M3. Increase outflow via canal of schlemm and constrict the pupil (iris)

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164
Q

What types of drugs decrease the synthesis of aqueous humor? Where is it produced?

A

Ciliary body, beta blockers, alpha-2 agonists, carbonic anhydrase inhibitors

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165
Q

Hyperopia vs Myopia. Describe relative to where the light focuses.

A

The light focuses in behind the retina of the hyperopic eye and in front of the myopic eye.

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166
Q

What is presbyopia, what causes it?

A

Age-related impaired accommodation due to decreased lens elasticity

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167
Q

Progressive peripheral field visual loss? Painful? Painless?

A

Glaucoma. Open-angle is painless, closed/narrow angle is painful (true emergency if acute)

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168
Q

What race is more predisposed to open-angle glaucoma?

A

African americans

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169
Q

What drug can you not give with acute closure glaucoma?

A

Anything that does mydriasis (alpha 1)

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170
Q

What causes loss of central vision?

A

Age-related macular degeneration

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171
Q

What is ranibizumab? What does it treat?

A

Anti-VEGF antibody that can treat eye conditions associated with neovascularization causing loss of vision (wet macular degeneration, proliferative diabetic retinopathy)

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172
Q

Flashes and floaters leading to curtain drawn down on vision? What causes it?

A

Retinal detachment. Separation of neurosensory layer of retina (photoreceptors) from outermost pigmented epithelium

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173
Q

Painless progressive vision loss beginning with night blindness?

A

Retinitis pigmentosa (inherited retinal degeneration)

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174
Q

What nerve causes pupil constriction?

A

Edinger-Westphal nucleus–>ciliary ganglion (CNIII)–> short ciliary nerves

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175
Q

What is the relation of CN II to the edinger westphal nucleus?

A

CN II–> pretectal nuclei–> bilateral EW nuclei (cause of consensual reflex)

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176
Q

What nerve mediates mydriasis?

A

Long ciliary nerve (sympathetics via ciliospinal center of budge to cervical ganglion)

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177
Q

Light in one eye to the other results in down bilateral constriction. What is the name and what is the cause?

A

Marcus-Gunn pupil, damage to optic nerve or severe retinal injury

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178
Q

What is the Meyer loop? Parietal or Temporal?

A

Temporal optic radiation

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179
Q

Which two nerves does the MLF connect? What nerve fires first? What is a defect called? Which eye gets nystagmus?

A

CN VI to CN III (CN VI first). A defect is called internuclear ophthalmoplegia (often in MS) in which the abducting eye gets nystagmus

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180
Q

Describe senile plaques and neurofibrillary tangles in alzheimers. Intracellular/extra, composition?

A

Plaques: extracellular beta amyloid
Tangles: intracellular hyperphosphorylated tau protein

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181
Q

What correlates with the degree of dementia in alzheimers? What is this functionally?

A

Number of neurofibrillary tangles, cytoskeletal elements

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182
Q

What is the composition of the round inclusions in frontotemporal dementia? What are they called?

A

hyperphosphorylated tau, Pick bodies

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183
Q

Dementia and hallucinations followed by parkinsonian features? What inclusions do you see (composition, location)

A

Lewy body dementia

Intracellular Lewy Bodies- alpha synuclein primarily in cortex

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184
Q

Startle myoclonus is a symptom of what dementia disease?

A

CJD

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185
Q

What is the triad with MS? What is the cause? Important findings for diagnosis (2)?

A

Charcot triad: scanning speech, intention tremor and nystagmus. Autoimmune etiology. Periventricular plaques and oligoclonal bands.

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186
Q

What might you give for spasticity in MS? Acute MS flares?

A

Baclofen

Steroids

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187
Q

What is acute inflammatory demyelinating polyradiculopathy? What is the CSF finding? What drug do you not use?

A 
Common subtype of GBS
Albuminocytologic dissociation (isolated inc. in protein)
No role for steroids
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188
Q

Foot deformities, lower extremity weakness and sensory deficits? Cause?

A

Charcot-Marie-Tooth: autosomal dominant disorder related to defective production of proteins involved in structure and function of peripheral nerves or myelin sheath.

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189
Q

What builds up in Krabbe? Metachromatic leukodystrophy? Difference?

A

Krabbe: galactocerbroside, peripheral neuropathy, optic atrophy
ML: sulfatides, central and peripheral demyelination

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190
Q

What two antibodies increase risk of reactivating latent JC virus infection? What is this called?

A

PML- rituximab, natalizumab

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191
Q

Difference in simple and complex partial seizures?

A

Both affect single brain area, simple has consciousness intact while complex does not

192
Q

What is the classic EEG association with absence seizures?

A

3Hz wave.

193
Q

What is the difference when positional testing produces delayed nystagmus vs. immediate? Which may change directions?

A

Immediate: brainstem or cerebellar lesion (may change)
Delayed: inner ear etiology (more common)

194
Q

Is sturge-weber syndrome inherited? What gene?

A

No, it is a somatic activating mutation of GNAQ gene

195
Q

From what cell line are neurofibromas derived?

A

Neural crest cells (schwann cells)

196
Q

What 3 tumors are associated with VHL?

A

Hemangioblastomas, renal carcinoma, pheochromocytoma

197
Q

What can hemangioblastomas produce? Where are they located?

A

Often cerebellar and can produce Epo

198
Q

What brain tumor is S100+? What does this mean?

A

Schwannoma, this is a neural crest marker (e.g. melanocytes in melanoma)

199
Q

What cancer is associated with eosinophilic, corkscrew shaped inclusions? What are these called?

A

Pilocytic (low grade) astrocytoma is associated with rosenthal fibers

200
Q

Perivascular rosettes in brain tumor

A

Ependymoma

201
Q

What brain tumor can produce precocious puberty in males? How?

A

Pinealomas produce beta-hCG and thus can produce precocious puberty in males

202
Q

What drug do you use for glaucoma emergencies?

A

Pilocarpine

203
Q

How do opiods work?

A

Open K+ channels, close Ca2+ channels, and thus decrease synaptic transmission

204
Q

How does tramadol work? What are some adverse effects?

A

Very weak opiod agonist, inhibits 5-HT and NE reuptake

AEs: Serotonin syndrome, decreases seizure threshold

205
Q

What drug must be titrated slowly to watch for SJS?

A

Lamotrigine

206
Q

Major concern with valproate?

A

Hepatotoxic

207
Q

What seizure drug might cause mental dulling and kidney stones?

A

Topiramate

208
Q

What is a contraindication for barbiturates? Do they induce or inhibit p450?

A

Porphyria, induce

209
Q

What do lipid and blood solubility have to do with anesthetic effects?

A

high lipid solubility: high potency

High blood solubility: slow onset

210
Q

What drugs cause malignant hyperthermia?

A

Inhaled anesthetics or succinycholine

211
Q

What is the order of loss with nerve block based on size/myelination and the senses

A

1) small myelinated>small un>large mye> large un

Pain, temp, touch, pressure

212
Q

Which local anesthetic causes: severe CV toxicity? methemoglobinemia?

A

Bupivacaine

benzocaine

213
Q

What drugs are dopamine agonists?

A

Bromocriptine (ergot), pramipexole, ropinirole

214
Q

What do carbidopa, tolcapone, and selegiline block?

A

carbidopa: peripheral DOPA decarboxylase
- capone: COMT (tolcapone central and peripheral)
selegiline: MAO-B

215
Q

CNS uses of amantadine vs. memantine

A

Amantadine: increase dopamine release and decrease uptake (parkinson)
Memantine: NMDA antagonist that helps prevent excitotoxicity (alzheimers)

216
Q

What do tetrabenazine and reserpine do and what are they used for?

A

Inhibit VMAT–>decreased dopamine packaging into vesicles (Huntington’s)

217
Q

What is the most common cause of hydrocephalus in newborns?

A

Cerebral aqueduct stenosis

218
Q

In a lumbar puncture, what layer are you trying to reach?

A

Subarachnoid space. DO NOT PIERCE PIA

219
Q

What do you suspect with multiple infarcts in watershed areas of the brain all at once?

A

Moderate global ischemia

220
Q

What effect can an insulinoma have on the brain?

A

It can cause global cerebral ischemia via repeated episodes of hypoglycemia

221
Q

How long must symptoms persist to be classified as a stroke rather than a TIA?

A

24 hours

222
Q

What is the cause of a hemorrhagic infarct in the brain?

A

Embolus (when the embolus lyses, the infarction becomes hemorrhagic)

223
Q

What causes lacunar strokes?

A

Hyaline arteriosclerosis (diabetes or chronic HTN)

224
Q

What layer do berry aneurysms lack?

A

Media

225
Q

Subfalcine herniation compresses what? Uncal herniation?

A

subfalcine- ACA

Uncal- PCA, CN III

226
Q

Where does metachromatic leukodystrophy product accumulate? Result? What about Krabbe?

A

ML- sulfatides in lysosomes of oligodendrocytes

Krabbe- Macrophages

227
Q

What is the cause of adrenoleukodystrophy? Inheritance?

A

Impaired addition of CoA to very long chain fatty acids, obviously hurts adrenals and brain (x-linked)

228
Q

What is destroyed by the autoimmune attack in MS?

A

myelin and oligodendrocytes

229
Q

What are two random associations with MS?

A

HLA-DR2, further distance from equator

230
Q

What is the difference in delirium from dementia?

A

Delirium can go away and involves CHANGING LEVELS OF CONSCIOUSNESS

231
Q

Which apolipoprotein is associated with alzheimers? Specifically which increases and decreases risk?

A

ApoE4 increases risk, ApoE2 decreases risk

232
Q

What is Tau?

A

A microtubule associated protein

233
Q

MPTP exposure was related to development of what?

A

Parkinson disease

234
Q

Why is anticipation seen with Huntington disease?

A

Further expansion of repeats in spermatogenesis

235
Q

What is stretched in NPH that causes sx? What improves sx?

A

Corona radiata, lumbar puncture

236
Q

Spike wave complexes on EEG?

A

CJD

237
Q

Necrotic areas with pseudopalisading around it brain tumor?

A

GBM

238
Q

What cells are forming a meningioma?

A

Arachnoid cells

239
Q

Calcified tumor in white matter? Maybe with seizures?

A

Oligodendroglioma

240
Q

What does drop metastasis refer to? What tumor?

A

Metastasis of medulloblastoma to the cauda equina (spreads via CSF)

241
Q

What embryonic structure forms the coronary sinus? The SVC?

A

CS- left horn of sinus venosus

SVC- right common cardinal vein and right anterior cardinal vein

242
Q

Which portion of the intraventricular septum is usually responsible for a VSD? What embryonic structure is this derived from?

A

Membranous portion, endocardial cushion

243
Q

What type of cells are responsible for outflow tract anomalies such as TOF and TOGV?

A

Neural crest cells are needed form truncal and bulbar ridges to spiral. No neural crest migration–> anomalies

244
Q

What is the ductus venosus? How many umbilical veins and arteries are there in the cord?

A

Ductus venosus is what allows the IVC blood to bypass the hepatic circulation. 1 vein (from mom) and two arteries branching off of the internal iliac arteries

245
Q

Where does most of the highly oxygenated blood that reaches the fetal heart come from and go? What about the deoxygenated blood?

A

IVC- oxygenated blood that mostly goes through foramen ovale

SVC- deoxygenated blood that goes through heart and is shunted through the PDA

246
Q

What forms the median and medial umbilical ligaments?

A

Median- allantois

Medial- umbilical arteries

247
Q

Arrange the pericardium layers from outer to inner. Where is the pericardial cavity.

A

Fibrous pericardium–> parietal serous pericardium–> visceral serous (pericardial cavity is between parietal and visceral layers)

248
Q

Pulse pressure is inversely proportional to what?

A

Arterial compliance

249
Q

In early exercise, CO is maintained by what? What about late exercise?

A

Early: increase in SV and HR
Later: SV plateaus, only inc. HR

250
Q

Which phase of the cardiac cycle is preferentially shortened with an increased heart rate?

A

Diastole

251
Q

Catecholamines cause an increase in contractility of the heart by inhibiting what?

A

Phospholamban

252
Q

What do ventricular diameter and wall thickness due to myocardial oxygen demand?

A

Increased diameter requires more oxygen (increased wall tension), increased wall thickness decreases the demand (this is why it thickens)

253
Q

What accounts for most of TPR?

A

Arterioles

254
Q

Which phase of the cardiac cycle is the period of highest oxygen consumption?

A

Isovolumetric contraction

255
Q

What are S3 and S4 associated with? Which can be normal?

A

S3- high filling pressure (normal in young adults and children)
S4- stiff ventricle wall (left lateral decubitus)

256
Q

What wave is absent in the jugular venous pulse curve with cardiac tamponade?

A

Y descent

257
Q

Normal splitting is affected how by inspiration? What does paradoxical splitting indicate? Fixed?

A

Normal is increased by inspiration (inc. venous return, P2 after A2)
Paradoxical: aortic stenosis LBBB
Fixed: ASD

258
Q

What increases the intensity of right heart sounds?

A

Inspiration (up venous return)

259
Q

Where is aortic regurgitation heard?

A

Left sternal border

260
Q

Late systolic crescendo murmur with mid systolic click?

A

Mitral valve prolapse

261
Q

What tells you the severity of mitral stenosis?

A

Decreased interval between S2 and OS correlates with increased severity

262
Q

What phase in the cardiac action potential is the upstroke?

A

Phase 0

263
Q

Does cardiac muscle require extracellular calcium to contract?

A

yes, skeletal muscle does not

264
Q

What phases are in the pacemaker action potential? What stimulates the upstroke?

A

Phase 0, 3 and 4 (four is a slow depolarization due to funny currents If), calcium channels cause depolarization

265
Q

Why are there no Na+ channels in the pacemakers?

A

There are, they are permanently inactivated because of the less negative resting potential of these cells (-70 vs -85)

266
Q

What is the treatment for torsades?

A

MgSO4

267
Q

What are the two congenital long QT syndromes? Which is associated with deafness? Inheritance?

A

Romano-Ward: AD, no deafness
Jervell and Lange-Nielsen Syndrome, AR, sensorineural deafness
Both usually due to ion channel defects

268
Q

What syndrome is associated with ECG pattern of pseudo-right bundle branch block and ST elevations in V1-V3? Cause of death? Inheritance/typical pt?

A

Brugada syndrome, AD in Asian males

SCD can be prevented by ICD

269
Q

What do you associate with delta waves?

A

WPW syndrome

270
Q

What is a first degree AV block?

A

PR interval is prolonged >200msec

271
Q

Mobitz 1 vs Mobitz II vs 3rd degree?

A

Mobitz 1: progressive lengthening then drop
Mobitz 2: random drop
3rd degree: atria and ventricles independent of each other

272
Q

What can cause 3rd degree heart block?

A

Lyme disease

273
Q

What is the mechanism of ANP and what are the effects?

A

Works via cGMP and causes vasodilation and down Na+ reabsorption at the renal collecting tubule. Also dilates afferent and constricts efferent arteriole

274
Q

What substance in blood can be used to diagnose HF?

A

BNP

275
Q

What nucleus in the brainstem does baroreceptors?

A

Solitary

276
Q

What happens in baroreceptors when the pressure drops?

A

Down stretch leads to down firing which disinhibits sympathetics and leads to increase in pressure.

277
Q

What is the cushing reaction and how does it work?

A

Triad of hypertension, bradycardia and respiratory depression. It happens with increased ICP that causes cerebral arterial constriction and ischemia. Increased pCO2 causes a central reflex to increase perfusion pressure which via baroreceptors causes bradycardia.

278
Q

Do central chemoreceptors respond to O2?

A

No, not directly

279
Q

What determines auto regulation of skeletal muscle blood flow at rest vs during exercise?

A

At rest it is sympathetic tone while it is local metabolites during exercise (adenosine, lactate, K+, etc.)

280
Q

What type of congenital heart shunt causes early cyanosis? Mnemonic?

A

Right to left (all have Ts)

281
Q

What is caused by anterosuperior displacement of the infundibular septum? What is the most important to determine prognosis of it?

A

Tetralogy of Fallot, pulmonary stenosis

282
Q

What is usually responsible for an ASD? Where is the defect?

A

Generally ostium secundum, but ostium primum defects occur with other cardiac anomalies (down syndrome)

283
Q

What cardiac defect is associated with a diabetic mother?

A

Transposition of the great vessels

284
Q

What is the heart defect associated with William’s syndrome?

A

supravalvular aortic stenosis

285
Q

What cardiac defects are associated with DiGeorge?

A

TOF, Truncus arteriosus

286
Q

What causes hyperplastic arteriolosclerosis? What cells proliferate?

A

Severe hypertension, proliferation of SM cells

287
Q

After fatty streaks form, what cells migrate in to form an atheroma?

A

Smooth muscle cells (involves PDGF and FGF, often supplied by platelets)

288
Q

What cells deposit the ECM in atherosclerotic plaques?

A

Smooth muscle cells

289
Q

What layer of the blood vessel degenerates to form an aneurysm?

A

Media

290
Q

What causes an aortic dissection? Biggest risk factor?

A

Longitudinal intimal tear. Hypertension

291
Q

What are the two types of aortic dissection and their treatment?

A

Stanford A involves Ascending aorta: surgery

Type B: No ascending aorta involvement, tx is beta blockers then vasodilators

292
Q

What is the principle behind pharmacologic stress tests?

A

Coronary steal syndrome: vessels distal to a block are already maximally dilated due to ischemia, so if you give a vasodilator (e.g. dipyridamole) other vessels that are well perfused dilate and steal blood flow.

293
Q

In a non-STEMI, what area of the heart has infarcted?

A

Subendocardium, this is an area particularly vulnerable to ischemia

294
Q

When do you see post infarction fibrinous pericarditis?

A

1-3 days after, neutrophil stage

295
Q

When do troponin and CK-MB rise and fall to normal?

A

Troponin: rise in 4 hours, fall in 7-10 days

CK-MB: rise in 6 hours, fall in 48 hours

296
Q

What ECG changes clue you in to LCX, RCA, PDA strokes?

A

LCX: Lateral (leads I, aVL)
RCA: inferior (leads II, III, aVF)
PDA: ST depression in V1-V3 with tall R waves

297
Q

Which papillary muscle is most likely to rupture? What is the result?

A

Posteromedial papillary muscle resulting in severe mitral regurgitation

298
Q

How does outflow obstruction happen in HOCM?

A

Asymmetric septal hypertrophy and systolic anterior motion of the mitral valve cause obstruction of outflow.

299
Q

What is endomyocardial fibrosis with a predominant eosinophilic infiltrate?

A

Loffler syndrome

300
Q

When do you not use beta blockers with heart failure?

A

acute decompensation

301
Q

What happens to preload and after load in cardiogenic shock? Obstructive?

A

Increased preload (blood can’t get through), and after load (blood pressure is dropping so resistance tries to counter it)

302
Q

Type of shock with a decrease in both preload and afterload?

A

Distributive

303
Q

Round white spots on retina surrounded by hemorrhage?

A

Roth spots, endocarditis (bacterial)

304
Q

What do you suspect if you see a granuloma with giant cells in the heart?

A

Rheumatic fever (this is an aschoff body)

305
Q

What causes equilibration of diastolic pressure in all four heart chambers?

A

Cardiac tamponade

306
Q

When do you see Kussmaul sign? What is it?

A

increase in JVP with inspiration (usually should be down). See it in constrictive pericarditis or restrictive cardiomyopathies

307
Q

How does polyarteritis nodosa happen? What should you probably associate?

A

Immune complexes lead to transmural inflammation of the arterial wall with fibrinoid necrosis. Hepatitis B

308
Q

What do you suspect if you see innumerable renal micro aneurysms?

A

PAN

309
Q

What kills kids with Kawasaki Disease?

A

Coronary artery aneurysms

310
Q

What is the other name for Wegener vasculitis?

A

Granulomatosis with polyangiitis

311
Q

What is the triad of Henoch-Schonlein Purpura? What causes it?

A

Skin, Arthralgias, and GI problems secondary to IgA immune complex deposition

312
Q

What drugs are used for HTN in pregnancy?

A

Hydralazine, labetalol, methyldopa, nifedipine

313
Q

What blood pressure medicine can causes hyperprolactinemia?

A

Non-dihydropyridine CCBs

314
Q

What toxicity might you see with nitroprusside?

A

Cyanide toxicity

315
Q

What is fenoldopam?

A

D1 agonist that causes coronary, peripheral, renal and splanchnic vasodilation

316
Q

Which anti-lipid drug can result in gout?

A

Niacin

317
Q

To what patients do you not want to give cardiac glycosides?

A

Patients with renal failure

318
Q

Describe class I antiarrhytmics in relation to length of action potential

A

Ia: prolonged (increased QT)
Ib: decreased
Ic: No change

319
Q

Which class of antiarrhytmics is best post-MI? Which is contraindicated?

A

Class Ib is best, Class Ic is contraindicated

320
Q

What phase of the cardiac action potential do B-blockers affect?

A

Phase four of the nodal action potential (sympathetics use this phase to increase heart rate)

321
Q

What labs need to be checked with amiodarone?

A

PFTs, LFTs, TFTs

322
Q

What drug can cause blue/gray skin deposits and corneal deposits?

A

Amiodarone

323
Q

How does adenosine work as an antiarrhytmic?

A

Allows K+ out of the cell causing hyperpolarization, effect is blunted by caffeine and theophylline

324
Q

What anti arrhythmic can cause flushing, hypotension and chest pain?

A

Adenosine

325
Q

What arteries are involved with takayasu arteritis?

A

Aortic arch at branch points

326
Q

What type of vasculitis can lead to a string of pearls appearance on imaging?

A

PAN

327
Q

Treatment for PAN, Wegener, and Microscopic polyangiitis is all the same, what is it?

A

Cyclophosphamide and steroids

328
Q

What kind of problem do you suspect with hematuria rolling an URI?

A

IgA nephropathy (Henoch-Schonlein Purpura perhaps)

329
Q

What leads to HTN with increased rain and unilateral kidney atrophy? What might be a cause of this in young females?

A

Renal artery stenosis (or a clip). Fibromuscular dysplasia

330
Q

Where is the plaque in atherosclerosis? What layer?

A

Intima

331
Q

What is the first step in the pathogenesis of atherosclerosis?

A

Endothelial damage

332
Q

What percent stenosis is required for symptoms to arise?

A

70%

333
Q

What causes hyaline arteriolosclerosis? What is the pathogenesis?

A

Long-standing hypertension or DM. Proteins leaking into the vessel wall causing thickening

334
Q

What is the difference in the renal failure associated with hyaline and hyper plastic arteriolosclerosis?

A

Hyaline produces glomerular scarring leading to slow onset chronic renal failure while hyper plastic causes fibrinoid necrosis of the vessel wall leading to acute renal failure with “flea bitten” appearance

335
Q

What is the pathogenesis of aortic dissection with its most common risk factor?

A

Hypertension–> hyaline arteriolosclerosis–> intimal thickening–> decreased blood flow of vasa vasorum–> medial atrophy–> intimal tear with dissection through the media

336
Q

Where is an AAA classically found?

A

Below renal arteries but above aortic bifurcation (L2-L4)

337
Q

What is the major cause of AAA?

A

Atherosclerosis decreasing diffusion of O2 to the media leading to atrophy and weakness of the vessel wall

338
Q

What cancer is associated with PVC, arsenic and thrortrast?

A

Liver angiosarcoma

339
Q

What can you give in prinzmetal angina besides nitroglycerin?

A

CCBs

340
Q

What causes contraction band necrosis related to a MI?

A

Reperfusion of irreversibly damaged cells results in calcium influx and hypercontraction of the myofibrils

341
Q

What is the cause of paroxysmal nocturnal dyspnea?

A

Increased venous return when lying flat

342
Q

What congenital cardiac defect is most associated with FAS?

A

VSD

343
Q

Lower extremity cyanosis without pulse differential?

A

PDA

344
Q

In infantile coarctation of the aorta, where is the coarctation in relation to the PDA?

A

Coarctation is proximal

345
Q

What is associated with the adult form of coarctation of the aorta?

A

Bicuspid aortic valve

346
Q

What is the valvular consequence of acute rheumatic fever vs. chronic rheumatic heart disease?

A

Acute is regurgitation plus JONES, chronic is stenosis

347
Q

What appearance of the aortic valve is a heavy hitting clue for chronic rheumatic heart disease?

A

Fusion of the commissures

348
Q

Concomitant aortic stenosis with fusion of the valve comissures and mitral stenosis?

A

rheumatic valve disease

349
Q

What causes mitral valve prolapse (as in what has happened to the valve)?

A

Myxoid degeneration (accumulation of ground substance)

350
Q

What bacteria causes most endocarditis in damaged valves? Healthy valves?

A

Damaged- S. viridans

Healthy- S. aureus

351
Q

What is the pathogenesis of subacute endocarditis?

A

Damaged endocardial surface develops thrombotic vegetations (platelets and fibrin) and bacteremia leads to trapping of bacteria in these vegetations

352
Q

What is the difference in acute and subacute endocarditis?

A

Acute is large vegetations on a previously healthy valve that destroy it, subacute is small vegetations on a previously damaged valve that do not destroy it

353
Q

What organisms do you suspect in endocarditis with negative blood cultures?

A

HACEK (haemophilus, actinobacillus, cardiobacterium, eikenella, kingella)

354
Q

What causes janeway lesions, osier nodes, splinter hemorrhages and roth spots in endocarditis?

A

Emolization of septic vegetations

355
Q

What type of heart problem might you see with pregnancy?

A

Dilated cardiomyopathy (late pregnancy or soon after birth)

356
Q

Low voltage EKG with diminished QRS amplitude suggests what?

A

Restrictive cardiomyopathy

357
Q

Anterior midline neck mass that moves with swallowing or protrusion of the tongue?

A

Thyroglossal duct cyst

358
Q

What germ cell layer is thyroid tissue derived from? Parafollicular cells (C cells) of the thyroid?

A

Endoderm, neural crest

359
Q

What hormones come from the anterior pituitary? Which are acidophils and basophils?

A

Acidophils: GH, Prolactin
Basophils: ACTH, TSH, FSH, LH

360
Q

What four hormones share a subunit? Which subunit is shared and which one determines specificity?

A

TSH, LH, FSH and B-hCG all share the alpha subunit but the beta subunits confer specificity

361
Q

What germ cell layers are anterior and posterior pituitary derived?

A

Anterior: surface ectoderm (Rathke’s)
Posterior: neuroectoderm (hypothalamus)

362
Q

Where would you find B-cells of the pancreas? (both the general and specific)

A

In the central region of the islets of langerhans (INsulin is INside)

363
Q

Where is preproinsulin synthesized? What form is in secretory granules?

A

RER, in secretory granules, proinsulin is cleaved to insulin and C-peptide (both excreted for this reason)

364
Q

What type of receptor is the insulin receptor?

A

Tyrosine kinase

365
Q

Does insulin cross the placenta? Glucose?

A

Insulin no, glucose yes

366
Q

Where do you find insulin dependent glucose transporters?

A

Striated muscle and adipose tissue

367
Q

What type of transporters for sugar are on spermatocytes?

A

Glut-5 (fructose)

368
Q

How is insulin released?

A

Glucose–> increased ATP–> closes K+ channels–> depolarization–> ca2+ open and influx–> exocytosis

369
Q

Which pathways of insulin receptor activation stimulate cell growth/DNA synthesis vs. biomolecule synthesis and receptor transport to membrane?

A

Cell growth/DNA synth: RAS/MAP kinase path

Rest: PI3-K pathway

370
Q

How does insulin influence glucagon secretion?

A

Increased insulin decreases glucagon

371
Q

What all does CRH increase?

A

ACTH, MSH, B-endorphin (POMC)

372
Q

What suppresses GnRH?

A

Prolactin (basis of lactating “birth control” and amenorrhea in prolactinoma)

373
Q

What hormone causes an increase in prolactin release? Decrease?

A

Increased by TRH, decreased by dopamine

374
Q

How could renal failure play a role in prolactin secretion?

A

Decreased prolactin elimination would give higher levels of prolactin

375
Q

What does estrogen do to prolactin secretion?

A

Increases it (OCPs, Pregnancy)

376
Q

Through what intermediate does growth hormone work? (both names) Where does this come from

A

IGF-1 or somatomedin C comes from the liver

377
Q

What causes orexigenesis?

A

Ghrelin (stimulates hunger)

378
Q

Where is leptin produced?

A

Adipose tissue

379
Q

What does the V1 receptor do?

A

Modulate blood pressure (vasoconstriction and increased pressure)

380
Q

What main enzyme does ketoconazole block in relation to the adrenals?

A

Cholesterol desmolase

381
Q

Name two hormones that cause an increase in insulin resistance

A

Cortisol and GH (consider that they both might need an increase in glucose to do their jobs)

382
Q

What causes striae?

A

Cortisol downregulates fibroblast activity

383
Q

How can exogenous corticosteroids cause reactivation of TB and candidiasis?

A

Blocks IL-2 production

384
Q

How would you describe the relationship of cortisol to many other hormones (e.g. ADH)?

A

Permissive

385
Q

Describe the relationship between serum pH and calcium concentrations

A

In an increased pH, more calcium is bound (less cations are around to bind negative proteins since no H+)–> hypocalcemia effectively

386
Q

Which hormone causes an increase in GI absorption of Ca2+ and PO4?

A

Vitamin D

387
Q

Where is PTH produced?

A

Chief cells of parathyroid

388
Q

Where in the nephron does PTH promote calcium reabsorption?

A

Distal tubule (like thiazides)

389
Q

What do you se an increase of in the urine with PTH besides PO4?

A

cAMP (PTH hits G proteins)

390
Q

How does PTH affect alkaline phosphatase?

A

It increases it because it increases osteoblast function in order to activate osteoclasts via RANK (this is why intermittent PTH can stimulate bone formation)

391
Q

What is the relation of magnesium to PTH secretion?

A

Slight down in Mg leads to an increase in PTH where a severe drop in Mg causes down secretion

392
Q

Where is most T3 formed?

A

Target tissues

393
Q

What is the relation of thyroid hormones and beta-adrenergic effects?

A

Thyroid hormone up regulates B1 receptors.

394
Q

In what cases does TBG increase? Decrease?

A

Increase: Pregnancy and OCP use (estrogen)
Decrease: Corticosteroid use, liver failure

395
Q

What enzyme is responsible for oxidation, organification and coupling of thyroid hormone? What drugs block this? Which one also stops peripheral conversion?

A

Thyroid peroxidase

Methimazole and propylthiouracil block this but PTU also blocks peripheral 5’-deiodinase

396
Q

What hormones work via intracellular receptors (7)?

A

Progesterone, Estrogen, Testosterone, Cortisol, Aldosterone, T3/T4 and vitamin D

397
Q

What receptors do acidophils target (pituitary)?

A

Nonreceptor tyrosine kinases

398
Q

What is Cushing disease?

A

ACTH secreting pituitary adenoma

399
Q

What is metyrapone and what can it be used for?

A

Blocks last step of cortisol synthesis and should cause a decrease in cortisol and increase in ACTH. Helps determine if adrenal insufficiency is primary or secondary/tertiary.

400
Q

Do you see skin and mucosal hyper pigmentation in primary or secondary adrenal insufficiency?

A

Primary because ACTH would be increased and thus MSH would too (POMC derivatives)

401
Q

What is addison disease? Most common causes?

A

Chronic primary adrenal insufficiency, most often caused by autoimmune destruction in western world and TB in developing world.

402
Q

What is Conn syndrome?

A

Primary hyperaldosteronism due to an adrenal adenoma

403
Q

Which tumor can cross the midline in the childhood abdomen? What cell type is it derived from? Odd paraneoplastic syndrome?

A

Neuroblastoma, neural crest, opsoclonus-myoclonus syndrome

404
Q

What tumors are associated with Homer-Wright rosettes?

A

Neuroblastoma (adrenal) and medulloblastoma (cerebellum)

405
Q

What is the relationship of cholesterol levels with hyper and hypothyroidism? Why?

A

Hypothyroid- increased cholesterol
Hyperthyroid- decreased
Related to LDL receptor expression

406
Q

Can you see increased CK with hypo or hyperthyroid myopathy?

A

Hypothyroid

407
Q

HLA associated with hashimoto? What cancer does it predispose for?

A

HLA-DR5, non-Hodgkin lymphoma

408
Q

Hurthle cells, lymphoid aggregates with germinal centers in enlarged thyroid?

A

Hashimoto

409
Q

What thyroid problem follows a viral infection often? Presentation? Histology?

A 
de Quervain (subacute granulomatous thyroiditis)
PAINFUL thyroid, granulomatous inflammation
410
Q

Fixed, rock hard thyroid with inflammatory infiltrate? What antibody is it related to?

A

Riedel thyroiditis, IgG4-related systemic disease

411
Q

Tall, crowded follicular epithelial cells with scalloped colloid.

A

Graves disease

412
Q

What are two findings that are characteristic of Graves disease but not of other hyperthyroid causes? How do they occur?

A

Pretibial myxedema due to the antibodies stimulating TSH receptors on dermal fibroblasts and exophthalmos due to increased fibroblast secretion of hydrophilic GAGs which leads to swelling.

413
Q

Follicular histology without capsular invasion in thyroid? With invasion?

A

Thyroid adenoma vs. follicular carcinoma

414
Q

How does papillary thyroid carcinoma spread? Follicular?

A

Papillary is a normal carcinoma that spreads via lymphatics, follicular spreads via blood

415
Q

What thyroid cancer is associated with childhood radiation? Name two characteristic histologic findings.

A

Papillary thyroid carcinoma

Orphan annie eyes and psammoma bodies

416
Q

What thyroid cancer is associated with the MEN syndromes? Mutation? What cells in the thyroid?

A

Medullary carcinoma, RET mutation, C-Cells (parafollicular)

417
Q

What do you suspect in a person with short 4th/5th digits, short stature and hypocalcemic signs? Heritability? Cause? Which parent must it be inherited from?

A

AD, (Albright hereditary osteodystrophy)pseudohypoparathyroidism (low calcium despite adequate levels of PTH). Due to defective Gs protein alpha subunit causing end organ resistance to PTH. Must be inherited from mother to have resistance. From father results in pseudo pseudo…

418
Q

Mild hypercalcemia and hypocalciuria with normal to elevated PTH levels?

A

Familial hypocalciuric hypercalemia (defective calcium sensing receptor needs higher than normal Ca levels to suppress PTH)

419
Q

Cystic subperiosteal bone spaces filled with brown fibrous tissue? Cause?

A

Osteitis fibrosa cystic which is caused by primary hyperparathyyroidism

420
Q

What is renal osteodystrophy?

A

Renal disease causes secondary hyperparathyroidism which leads to bone lesions

421
Q

What is Nelson syndrome?

A

Enlargement of existing ACTH-secreting pituitary adenoma after bilateral adrenalectomy for the refractory cushing disease

422
Q

What normally happens to GH following oral glucose tolerance test? What should you suspect if not?

A

Usually it decreases but it doesn’t in acromegaly (pituitary mass often)

423
Q

Pegvisomant

A

GH receptor antagonist

424
Q

What type of DI is caused by lithium?

A

Nephrogenic

425
Q

What is the volume status with SIADH? Sodium levels?

A

euvolemic hyponatremia with continued urinary Na+ excretion

426
Q

What are the major complications associated with type I and II DM?

A

Type I: DKA, Type II: Hyperosmolar coma

427
Q

Most common cause of death in DM patient?

A

Myocardial infarction

428
Q

What is the cause of cataracts and neuropathy in DM?

A

Osmotic damage due to sorbitol accumulation in organs with aldose reductase and low or absent sorbitol dehydrogenase

429
Q

Antibodies with type I DM?

A

Glutamic acid decarboxylase antibodies

430
Q

Which type of DM is more genetic? HLA types?

A

Type I: HLA DR3 and 4

Type II: More genetic predisposition

431
Q

Which type of DM has amyloid near the islet cells?

A

Type II

432
Q

Describe the histology of type I and II DM?

A

Type I: Islet leukocytic infiltrate (autoimmune)

Type II: Islet amyloid polypeptide (IAPP) deposits

433
Q

Which ketone is favored in DKA?

A

beta-hydroxybutyrate>acetoacetate

434
Q

What electrolyte must be given in DKA treatment? Why might this be overlooked in real life?

A

potassium even though lab value will say patient is hyperkalemic

435
Q

What causes hyperosmolar hyperglycemia nonketotic syndrome (HHNS)?

A

Increased glucose causes increased osmotic diuresis. This results in dehydration that can cause HHNS if fluids are not adequately replaced

436
Q

What might you suspect if you see a depressed patient with DVTs, hyperglycemia and skin dermatitis?

A

Glucagonoma

437
Q

What vitamin deficiency might you see with carcinoid syndrome?

A

Niacin (the tryptophan is utilized to make 5HT)

438
Q

Inheritance pattern of MEN syndromes?

A

Autosomal dominant

439
Q

What tumors are with MEN 1, 2A and 2B?

A

1: Pituitary, pancreas, parathyroids
2A: parathyroids, pheochromocytoma, medullary thyroid
2B: pheo, medullary thyroid, mucosal neuromas

440
Q

Name three syndromes associated with a marfanoid habitus.

A

Marfans, MEN 2B, homocystinuria

441
Q

Which, between glargine and glulisine is rapid acting and long acting?

A

Glargine is long acting “glarge”, glulisine is rapid

442
Q

Which diabetes drugs can cause disulfarim-like effects?

A

First generation sulfonylureas (mides)

443
Q

What are two results of increased ppar-gamma activation?

A

Increased adiponectin and insulin sensitivity in the periphery

444
Q

Which drug for hyperthyroidism is used in pregnancy?

A

Propylthiouracil

445
Q

What are conivaptan and tolvaptan? Name another drug with the same function.

A

ADH antagonists (V2 specifically), demeclocycline

446
Q

What is fludrocortisone?

A

Synthetic analog of aldosterone with little glucocorticoid activity

447
Q

What is cincacalet? What is it used for?

A

It is a drug that sensitizes Ca-sensing receptor in parathyroid gland to circulation calcium. Used in hyperparathyroidism (primary or secondary)

448
Q

What is the most common cause of death in acromegaly?

A

Cardiac failure- GH causes growth of visceral organs

449
Q

Etiology of sheehan syndrome?

A

Pituitary doubles in size during pregnancy but the blood supply doesn’t increase significantly. Blood loss at partition leads to infarction.

450
Q

What symptoms might you see in a patient with SIADH? Why?

A

Mental status changes and seizures because hyponatremia leads to neuronal swelling and cerebral edema

451
Q

How does glucose level change in hyperthyroidism?

A

Hyperglycemic due to increased gluconeogenesis and glycogenolysis

452
Q

Are the exophthalmos and pretrial myxedema in graves disease due to the thyroid?

A

No, the antibody- fibroblasts behind orbit and on shin express the TSH receptor

453
Q

What is the difference in myxedema and edema?

A

Edema is due to water while myxedema is due to a myxoid substance like GAGs

454
Q

Arrhythmia, hyperthermia and vomiting with hypovolemic shock

A

Thyroid storm (usually presents in stress)

455
Q

What is dyshormonogenetic goiter?

A

Congenital defect in thyroid hormone production. It most commonly involves thyroid peroxidase

456
Q

What causes the deepening of voice and large tongue in hypothyroidism?

A

Myxedema: accumulation of GAGs in the skin and soft tissue

457
Q

Antimicrosomal antibodies are also known as what?

A

anti-thyroid peroxidase

458
Q

What should you suspect in a hypothyroid patient with an enlarging thyroid gland late in the disease course?

A

B-cell (marginal zone) lymphoma

459
Q

Suspicion in patient with fibrotic thyroid and less than 40? What if it is an old patient?

A

Young: riedel fibrosing thyroiditis, old: anaplastic carcinoma

460
Q

Can you distinguish between follicular adenoma and carcinoma by FNA?

A

No, the capsule is the only difference

461
Q

Name the four carcinomas that spread hematogenously.

A

Follicular carcinoma of the thyroid, renal carcinoma, choriocarcinoma, hepatocellular carcinoma

462
Q

What is a classic thing that hypercalcemia can cause?

A

Acute pancreatitis, thus you must link this with hyperparathyroidism

463
Q

What can thyrotoxicosis do to bone?

A

Increased resorption (possible up ALP)

464
Q

What type of hypersensitivity reaction is type I DM?

A

Type IV (T lymphocyte mediated)

465
Q

What causes DKA?

A

Generally stress–>Epi–> glucagon–>lipolysis and ketogenesis

466
Q

How does obesity predispose to type II DM?

A

Obesity leads to decreased numbers of insulin receptors

467
Q

Which renal arterioles are preferentially involved in diabetes? What does this cause?

A

Efferent arterioles, causes hyperfiltration injury with microalbuminuria

468
Q

What do you suspect with watery diarrhea, hypokalemia and achlorhydria?

A

VIPoma

469
Q

What do you suspect with achlorhydria and cholelitiasis with steatorrhea?

A

Somatostatinoma

470
Q

HTN, hypokalemia and metabolic alkalosis with low aldosterone and low renin? Tx?

A

Liddle syndrome: constitutive action of ENaC channels in collecting tubules. Tramterine or amiloride

471
Q

How does cushing syndrome cause hypertension with hypokalemia and metabolic alkalosis?

A

HTN: high cortisol increases sensitivity of peripheral vessels to catecholamines (specifically alpha 1)
HypoK and met. alk: at very high levels cortisol cross reacts with mineralocorticoid receptors

472
Q

What cancer can result in adrenal insufficiency? (not adrenal)

A

Lung cancer: it loves to metastasize to the adrenals

473
Q

What cell type in the adrenal medulla makes catecholamines?

A

Chromaffin cells

474
Q

What do you suspect in a patient who gets weary, hypertensive and rapid heart rate while urinating?

A

Pheochromocytoma on the bladder wall (10% acre outside of the adrenal- rule of 10s)

475
Q

What is the rule of 10s?

A

Pheochromocytoma: 10% bilateral, familial, malignant, outside adrenal medulla

476
Q

What four syndromes are pheochromocytomas associated with?

A

MEN 2A and 2B, VHL, NF type 1

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