Week 4 Review Q's Flashcards

Anatomy of parathyroid (1-52) Regulation of Ca and Pi (53-90) bone and Ca biochem (91-122) hormones and negative feedback (123-138) D3 regulated gene expression seminar (139-170) pharma agents that affect bone homeostasis (171-196) clinical medicine osteoporosis (197-220) Radiology endocine imaging (221-235) Investigation of bone disorders (236-264) Genetics of the endocrine system (265-281)

1
Q

What is the Chvostek sign? What does it indicate?

A

It refers to an abnormal reaction to the stimulation of the facial nerve. (existing nerve hyperexcitability/tetany). Seen in patients with hypocalcemia.

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2
Q

What percent of people don’t have all 4 parathyroid glands?

A

20%

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3
Q

Which is also called parathyroid 4?

a. superior parathyroid glands
b. inferior parathyroid glands

A

a. superior parathyroid glands

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4
Q

Which is more variable in location?

a. superior parathyroid glands
b. inferior parathyroid glands

A

b. inferior parathyroid glands

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5
Q

Which is ventral to the recurrent laryngeal nerve?

a. superior parathyroid glands
b. inferior parathyroid glands

A

b. inferior parathyroid glands

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6
Q

Which is more constantly found within the false capsule?

a. superior parathyroid glands
b. inferior parathyroid glands

A

a. superior parathyroid glands

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7
Q

What’s the branch of the superior thyroid artery that anastomosis with the inferior thyroid artery?

A

the posterior branch

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8
Q

What artery gives rise to the superior thyroid artery?

A

external carotid artery

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9
Q

What three things are in the carotid sheath when it near the area of the parathyroid?

A

Inferior vena cava
Vagus nerve
Common carotid artery

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10
Q

When do the oxyphil cells of the parathyroid develop?

A

differentiate later at puperty

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11
Q

Which are more acidophilic?

a. principal cells
b. oxyphil cells

A

b. oxyphil cells

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12
Q

Which have a secretory role?

a. principal cells
b. oxyphil cells

A

a. principal cells

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13
Q

Which are more numerous?

a. principal cells
b. oxyphil cells

A

a. principal cells

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14
Q

When do the principal cells of the parathyroid develop?

A

during embryonic development

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15
Q

Which has more mitochondria?

a. principal cells
b. oxyphil cells

A

b. oxyphil cells

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16
Q

What TWO of the following does PTH do?

a. increase calcium
b. decrease calcium
c. increase phosphate
d. decrease phosphate

A

a. increase calcium
&
d. decrease phosphorus

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17
Q

What three organs does PTH have an effect on?

A

bone
gut
kidney

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18
Q

How does the PTH help calcium absorption in the gut?

A

by activating the enzyme that activates vitamin D (1-alpha-hydroxylase). Vitamin D helps absorb calcium in the blood.

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19
Q

Where does 1-alpha-hydroxylase function?

A

in the kidney

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20
Q

Using which mechanism does PTH activate osteoclasts?

A

PTH activates osteoblasts to make RANKL, which then binds to RANK receptor of osteoclasts and activates it

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21
Q

Why would PTH be used for the treatment of osteoporosis?

A

because intermittent treatment with the hormone has an anabolic action of bone via the cAMP/IGF-I pathway

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22
Q

What occurs after prolonged treatment with PTH?

A

catabolic effect on bone (causes low bone mass)

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23
Q

How does PTH control phosphate levels?

A

increases the excretion of phosphate in the kidney

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24
Q

Which of the following form the superior parathyroid?

a. pouch 1
b. pouch 2
c. pouch 3
d. pouch 4

A

d. pouch 4

(dorsal wing of the fourth pouch)
(the ventral wing of the fourth pouch makes the ultimobranchial body -> parafollicular cells/C cells)

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25
Q

Which of the following forms an overgrowth that makes the neck smooth?

a. pouch 1
b. pouch 2
c. pouch 3
d. pouch 4

A

b. pouch 2

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26
Q

Which of the following forms the thymus?

a. pouch 1
b. pouch 2
c. pouch 3
d. pouch 4

A

c. pouch 3

ventral wing of third pouch

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27
Q

Digeorge syndrome is caused by a failure of which pharyngeal arch(es)?

A

3rd and 4th pouch

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28
Q

Nezelof’s syndrome is caused by a failure of which pharyngeal arch(es)?

A

3rd pouch

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29
Q

Which of the following causes an absence/underdevelopment of the thymus?

a. Nezelof’s syndrome
b. Digeorge syndrome
c. both

A

c. both

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30
Q

Which of the following causes cleft lip?

a. Nezelof’s syndrome
b. Digeorge syndrome
c. both

A

b. Digeorge syndrome

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31
Q

Which of the following causes diarrhea and pyoderma?

a. Nezelof’s syndrome
b. Digeorge syndrome
c. both

A

a. Nezelof’s syndrome

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32
Q

Which of the following causes cardiac defects?

a. Nezelof’s syndrome
b. Digeorge syndrome
c. both

A

b. Digeorge syndrome

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33
Q

Which of the following is caused by the deletion of the long arm of chromosome 22?

a. Nezelof’s syndrome
b. Digeorge syndrome
c. both

A

b. Digeorge syndrome

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34
Q

What happens to the parathyroid glands during most thyroidectomy procedures?

A

the posterior part of the thyroid is kept to safe keep the parathyroid glands

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35
Q

What happens to the parathyroid glands when the entire thyroid needs to be removed?

A

they are transplanted to the forearm or SCM muscle

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36
Q

What are the symptoms of low calcium levels?

A

tingling (often in the lips, tongue, fingers, and feet), muscle aches, spasms of the muscles in the throat (leading to difficulty breathing), stiffening and spasms of muscles (tetany), seizures, and abnormal heart rhythms.

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37
Q

What is hungry bone syndrome? When does it occur?

A

Calcium uptake by bone increases and calcium levels falls. It occurs after parathyroid surgery.

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38
Q

What’s the most common etiology of primary hyperparathyroidism?

A

parathyroid adenomas (85%)

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39
Q

How can small cell lung cancer raise calcium levels?

A

the cells of the tumor make analogs of PTH that causes the raise in calcium

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40
Q

T/F: about 20% of patients with parathyroid adenomas are asymptomatic

A

false, its 85%

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41
Q

How does estrogen and testosterone affect bone resorption?

A

estrogen and testosterone both inhibit bone breakdown (resorption) by inhibiting osteoclast activity and increasing its apoptosis

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42
Q

Which of the following describes sex hormone function?

a. bone resorption
b. bone formation
c. both

A

b. bone formation

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43
Q

Which of the following describes PTH function?

a. bone resorption
b. bone formation
c. both

A

c. both (depends on dose and duration)

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44
Q

Which describes Calcitriol function?

a. inhibit bone breakdown
b. conserve calcium
c. stimulates bone resorption
d. stimulate bone formation
e. increase calcium absorption

A

e. increase calcium absorption (and phosphorous absorption)

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45
Q

T/F: bone resorption exceeding bone formation is pathological

A

false, it’s a normal process of aging

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46
Q

Which describes Calcitonin function?

a. inhibit bone breakdown
b. conserve calcium
c. stimulates bone resorption
d. stimulate bone formation
e. increase calcium absorption

A

a. inhibit bone breakdown

by inactivating osteoclasts

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47
Q

How do excess glucocorticoids affect bones of kids/adults?

A

stop bone growth in children + cause marked thinning of the bone in adults (both lead to fractures)

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48
Q

Which describes PTH effect on gut?

a. inhibit bone breakdown
b. conserve calcium
c. stimulates bone resorption
d. stimulate bone formation
e. stimulate calcitriol
f. increase calcium absorption

A

f. increase calcium absorption

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49
Q

What is Osteitis fibrosa cystica? What does it lead to?

A

characteristic, but rare, manifestation of primary hyperparathyroidism.
Cystic changes in the bone occur due to osteoclastic resorption. fibrous replacement of resorbed bone may lead to the formation of non-neoplastic tumor-like masses (brown tumor) on x-ray films.

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50
Q

Which describes PTH effect on kidneys? (two answers)

a. inhibit bone breakdown
b. conserve calcium
c. stimulates bone resorption
d. stimulate bone formation
e. stimulate calcitriol
f. increase calcium absorption

A

b. conserve calcium
&
e. stimulate calcitriol

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51
Q

How are kidney stones related to high PTH?

A

PTH increases calcium and the high calcium leads to stone formation

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52
Q

Which describes PTH effect on bone? (two answers)

a. inhibit bone breakdown
b. conserve calcium
c. stimulates bone resorption
d. stimulate bone formation
e. stimulate calcitriol
f. increase calcium absorption

A

c. stimulates bone resorption
&
d. stimulate bone formation

(depending on if its intermittent or prolonged treatment)

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53
Q

How does calcium aid in hormone secretion?

A

be acting as a second messenger

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54
Q

Which of the following decreases calcium levels?

a. Parathyroid hormone
b. Calcitonin
c. Calcitriol
d. Fibroblast growth factor 23

A

b. Calcitonin

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55
Q

Which of the following is stimulated by high calcium levels?

a. Parathyroid hormone
b. Calcitonin
c. Calcitriol
d. Fibroblast growth factor 23

A

b. Calcitonin

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56
Q

Which two of the following are stimulated by high phosphate levels?

a. Parathyroid hormone
b. Calcitonin
c. Calcitriol
d. Fibroblast growth factor 23

A

a. Parathyroid hormone
&
d. Fibroblast growth factor 23

(they both decrease phosphate levels)

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57
Q

How does calcium help nerves function?

A

maintaining membrane stability and helping in membrane depolarization

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58
Q

How do high phosphate levels indirectly stimulate parathyroid levels?

A

by binding to/decreasing calcium levels which then increases PTH

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59
Q

Which of the following does the PTH work on indirectly?

a. bone
b. intestine
c. kidney

A

b. intestine

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60
Q

How does 1,25-Vitamin D (calcitriol) inhibit PTH genes directly and indirectly?

A

directly by inhibiting the PTH gene transcription
indirectly by activating CaSR gene transcription-> increase CaSR synthesis
(when CaSR is activated it inhibits the PTH gene transcription and decreases PTH secretion)

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61
Q

Where is Cholecalciferol synthesized?

A

made by the skin when exposed to sunlight

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62
Q

What two methods does Ca sensing receptor (CaSR) use to decrease PTH in blood?

A

inhibit PTH secretion

inhibit PTH gene transcription

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63
Q

What’s the dietary source of vitamin D2?

A

plants

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64
Q

What’s the dietary source of vitamin D3?

A

animals

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65
Q

Whats (two things) transport vitamin D from the gut to the liver?

A

chylomicrons

DBP (vitamin D Binding Protein)

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66
Q

What hormone stimulates 1-alpha-hydroxylase function?

A

PTH

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67
Q

Which of the following is a rapid response when PTH is high?

a. higher Ca absorption in gut
b. higher bone turnover

A

b. higher bone turnover

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68
Q

What are the three ways vitamin D acts to increase calcium?

A
  • increase Ca absorption in gut
  • increase bone turnover
  • increase Ca reabsorption and Pi excretion
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69
Q

Whats the main effect of vitamin D?

A

increase Ca absorption in gut

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70
Q

How does PTH & Fibroblast growth factor 23 (FGF23) decrease phosphate levels?

A

by inhibiting Pi reabsorption

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71
Q

How does renal failure lead to osteoporosis?

A

renal failure→Pi retention→high Pi→low Ca→high PTH→bone resorption

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72
Q

What regulates calcitonin?

A

CaSR

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73
Q

What stimulates calcitonin release?

A

high Ca & Pi

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74
Q

What makes and releases calcitonin?

A

Parafollicular cells (C cells) of the thyroid

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75
Q

Compare and contrast PTH & FGF23. What do they do similarly/differently?

A

both inhibit Pi reabsorption (decrease Pi)

PTH stimulates 1-alpha-hydroxylase activity while FGF23 inhibits it. (PTH increases vit D, FGF23 decreases vit D)

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76
Q

Which causes corneal/ectopic calcification?

a. hypoparathyroidism
b. hyperparathyroidism

A

b. hyperparathyroidism

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77
Q

Which can be caused by low magnesium levels?

a. hypoparathyroidism
b. hyperparathyroidism

A

a. hypoparathyroidism

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78
Q

What do chvostek sign and trousseau sign indicate?

A

low calcium and high phosphate concentrations

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79
Q

High PTH levels in a fiver year old caused major bone resorption. What is the result?

a. osteomalacia
b. rickets

A

b. rickets

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80
Q

How do sex hormones protect against bone loss?

A

by promoting osteoblast survival and osteoclast apoptosis

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81
Q

T/F: swimming and walking are the best exercises for building bone

A

false, weight-bearing exercises are the best for building bone

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82
Q

T/F: Ca and vit D supplements are always useful methods of preventing osteoporosis

A

false, they’re not useful after menopause

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83
Q

What are four causes of osteoporosis?

A
  • estrogen loss
  • bed rest
  • loss of gravity
  • high glucocorticoids
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84
Q

What do you give postmenopausal women who have bone resorption?

A

hormone replacement therapy

estrogen to slow down bone resorption, but it doesn’t rebuild

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85
Q

Which drug would you give women who have family history of breast cancer?

A

Selective estrogen receptor modulators (SERM)

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86
Q

Which of the following can be given as a nasal spray?

a. Calcitonin
b. Bisphosphonates
c. Raloxifen
d. Tamoxifen

A

a. Calcitonin

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87
Q

Which of the following has to be taken while standing or sitting upright? Why?

a. Calcitonin
b. Bisphosphonates
c. Raloxifen
d. Tamoxifen

A

b. Bisphosphonates

because it damages the esophagus

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88
Q

Which of the following doesn’t have estrogen stimulation on breast and uterus?

a. Raloxifen
b. Tamoxifen

A

a. Raloxifen

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89
Q

Which of the following can we extracted by salmon?

a. Calcitonin
b. Bisphosphonates
c. Raloxifen
d. Tamoxifen

A

a. Calcitonin

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90
Q

Which of the following is used to treat certain breast cancers?

a. Raloxifen
b. Tamoxifen

A

b. Tamoxifen

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91
Q

Which of the following makes extracellular ePi-Pi?

a. ANKP
b. NPP-1
c. TNAP
d. ALKP

A

b. NPP-1

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92
Q

Carbonic anhydrase deficiency leads to which disease formation?

A

Osteopetrosis

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93
Q

Which of the following hydrolyze phosphate groups?

a. ANKP
b. NPP-1
c. TNAP
d. ALKP

A

c. TNAP

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94
Q

What transports H+ into the ruffled surface area of osteoclasts?

A

H+-ATPase

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95
Q

Mutations in what two proteins will cause osteopetrosis?

A

H+-ATPase (proton pump)

Carbonic anhydrase

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96
Q

How does denosumab treat osteopetrosis?

A

it binds to RANKL and prevents it from activating the RANK receptors which activate osteoclasts

(denosumab= anti RANKL antibody)

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97
Q

Which of the following transports Intracellular Pi-Pi to Extracellular (ePi-Pi)?

a. ANKP
b. NPP-1
c. TNAP
d. ALKP

A

a. ANKP

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98
Q

How does estrogen protect from osteoporosis?

A

through induction of osteoprotegerin (OPG), which acts like a RANK receptor and competitively inhibits the (RANK) receptor activation

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99
Q

How does collagen help bone ossification?

A

it provides nucleation for hydroxyapatite formation

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100
Q

Which initiates hydroxyapatite crystallization along the collagen fibers?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

d. Bone sialoprotein (BSP)

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101
Q

Which TWO of the following have binding sites for Arginylglycylaspartic acid (RGD)?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

a. Osteopontin
&
d. Bone sialoprotein

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102
Q

Which of the following has a greater negative charge due to post-transcriptional modification?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

c. Osteocalcin

γ-Glutamyl carboxylation added the negative charge

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103
Q

Which of the following may serve as a target for the treatment of osteoporosis in menopausal women?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

a. Osteopontin

when its gene is mutated, there’s a reduction in the ruffled surface area

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104
Q

A defect in which of the following causes osteopenia?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

b. Osteonectin

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105
Q

Which of the following is regulated by PTH?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

b. Osteonectin

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106
Q

Which of the following is the most abundant osteoblast-specific ECM protein?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

c. Osteocalcin

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107
Q

A mutation of which of the following results is a short person?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

d. Bone sialoprotein

controls femur bone growth

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108
Q

Which of the following regulates bone resorption through ruffled border area?

a. Osteopontin
b. Osteonectin
c. Osteocalcin
d. Bone sialoprotein

A

a. Osteopontin

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109
Q

What are bone morphogenetic proteins? What family do they belong to? What are they also known as?

A

Signaling molecules that serve as growth factors. They belong to TGF-beta super family. Also known as Osteogenin

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110
Q

Which of the following releases Pi from the extracellular ePi-Pi?

a. ANKP
b. NPP-1
c. TNAP
d. ALKP

A

d. ALKP (alkaline phosphatase)

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111
Q

What does a high concentration of ePi-Pi do?

A

inhibits bone formation

(he said that high pyrophosphate inhibits mineralization due to competition. the pyrophosphate competes with the phosphate to form defective crystallization instead of hydroxyapatite)

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112
Q

What TWO enzymes increase ePi-Pi?

A

ANKP & NPP-1

so when you over-activate them it increases ePi-Pi and that suppresses bone formation

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113
Q

What regulates ALKP? What happens to bones if ALKP gene got mutated? Why?

A

ALKP is regulated by BMP (bone morphogenic proteins)

Mutations in ALKP lead to soft bone, thats because ALKP decreases ePi-Pi by transforming it to Pi. If ALKP is defective, ePi-Pi would be increased and Pi would decrease, both of those inhibit bone formation.

114
Q

Which location is Ca concentration less?

a. serum
b. ER
c. cytosol

A

c. cytosol

115
Q

Which three pumps remover Ca from the cytoplasm?

A

PMCA
SERCA
NCX

116
Q

Which of the following cannot release Ca in bulk due to the its high affinity?

a. PMCA
b. SERCA
c. NCX

A

a. PMCA

117
Q

Which of the following is the most important for bone miniralization? why?

a. PMCA
b. SERCA
c. NCX

A

c. NCX

it has low affinity so it’s able to release Ca in bulk

118
Q

How many aa’s of PTH are removed in the liver?

A

2

119
Q

How many aa’s of PTH are removed in the ER?

A

25

120
Q

How many aa’s of PTH are removed in the golgi?

A

6

121
Q

Which aa’s of PTH peptide are active? What does it serve as?

A

1-34

PTH’s 25-34 amino acid serves as receptor binding region

122
Q

During PTH release, what initiates the increase in calcium? (which allows the release of the PTH filled vesicles?)

A

IP3 is the second messenger molecule that releases the Ca

123
Q

Which is responsible for 90% of plasma osmolarity?

a. Na
b. K

A

a. Na

124
Q

Whats the most abundant intracellular cation?

A

K+

125
Q

What are the four causes of thirst?

A

high osmolarity
low volume
high angiotensin 2
dry mouth

126
Q

Whats the most abundant extracellular cation?

A

Na+

127
Q

Where is osmolarity sensed? By what?

A

osmoreceptors in the anterior pituitary

128
Q

Where is volume sensed? By what?

A

via volume receptor in the venae cava and atrium

129
Q

Whats the primary effect of aldosterone?

A

Sodium levels, but it also has a secondary effect on water reabsorption

130
Q

Whats the primary effect of ADH?

A

Water reabsorption is the primary effect

131
Q

Where does ADH act on?

A

late distal convoluted tubule and collecting duct

increase water absorption in the areas

132
Q

Renin helps the secretion of which of the following?

a. ADH
b. aldosterone

A

b. aldosterone

133
Q

T/F: all amino acid derivatives are lipid-soluble

A

false, they can be both

134
Q

polypeptides are

a. lipophilic
b. lipophobic

A

a. lipophilic

135
Q

What are the 6 hypothalamic hormones?

A

The. TRH: Thyroid-releasing Hormone.
Drunk. DA: Dopamine.
Girl. GHRH: Growth hormone-releasing hormone.
Got. GnRH: Gonadotropin-releasing hormone.
Some. Somatostatin.
Courage. CRF: Corticotropin-releasing Factor.

136
Q

What is the indirect function of growth hormone?

A

stimulate insulin-like growth factor (IGF) via the liver

this stimulates bone growth, lipolysis, protein synthesis of muscles

137
Q

Growth hormone is also called…

A

Somatotropin

138
Q

How are thyroid hormones transported?

A

bound by Thyroxine-binding globulin (70%), albumin (20%) and transthyretin (5%)

139
Q

What is the biologically active form of vitamin D?

A

1,25-dihydroxycholecalciferol AKA calcitriol

140
Q

Which enzyme is used in the hydroxylation of vitamin D in the liver?

A

25 hydroxylase enzyme

141
Q

Which enzyme is used in the hydroxylation of vitamin D in the Kidney?

A

1‐alpha‐hydroxylase enzyme

142
Q

What does 1,25-dihydroxy Vit-D3 target?

A
  • Gastro intestinal tract

* Renaltubules

143
Q

Where does Vitamin D / VDR complex bind to Retinoic X receptor (RXR)?

A

In nucleus

144
Q

Where does Vitamin D binds to its receptor (Vitamin D receptor)?

A

In the cytosol

145
Q

Which transports Ca2+ from the apical membrane to the basolateral membrane?

a. PMCA1b
b. TRPV6
c. Calbindin

A

c. Calbindin

146
Q

Which responds to oral calcium treatment?

a. Vitamin D-Dependent Rickets (VDDR) - Type I
b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II
c. both

A

a. Vitamin D-Dependent Rickets (VDDR) - Type I

147
Q

Which commonly causes alopecia?

a. Vitamin D-Dependent Rickets (VDDR) - Type I
b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II
c. both

A

b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II

148
Q

Which facilitates the uptake of Ca2+ across the brush border apical membrane into the enterocyte?

a. PMCA1b
b. TRPV6
c. Calbindin

A

b. TRPV6

149
Q

Which has an earlier onset?

a. Vitamin D-Dependent Rickets (VDDR) - Type I
b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II

A

b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II

150
Q

Which is autosomal recessive?

a. Vitamin D-Dependent Rickets (VDDR) - Type I
b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II
c. both

A

c. both

151
Q

Which facilitates the transport of calcium from the enterocyte into the circulation?

a. PMCA1b
b. TRPV6
c. Calbindin

A

a. PMCA1b

152
Q

Most rickets cases is due to mutations in which TWO of the following domains?

a. DNA binding domain
b. AF-2 domain
c. Multifunctional ligand binding domain
d. Hinge domain

A

a. DNA binding domain
&
c. Multifunctional ligand binding domain

153
Q

T/F: only 65 different mutations of the VDR gene were found

A

false, these are only the ones that cause functional changes. There are many other mutations.

154
Q

A mutation of which of the following prevents the interaction of VDR and VDRE of target genes?

a. DNA binding domain
b. AF-2 domain
c. Multifunctional ligand binding domain
d. Hinge domain

A

a. DNA binding domain

155
Q

What occurs if there’s a mutation in the Vitamin D receptor (VDR)? How do you treat it?

A

patient is unable to absorb calcium from the gastrointestinal tract. You treat with vit D injections.

156
Q

A mutation of which of the following affects the binding of Vitamin D3 or RXR?

a. DNA binding domain
b. AF-2 domain
c. Multifunctional ligand binding domain
d. Hinge domain

A

c. Multifunctional ligand binding domain

157
Q

What can you conclude when Alkaline phosphatase (ALP) concentration is high?

A

high osteoblastic acitivity

158
Q

Which is due to a mutation in vitamin D receptor?

a. Vitamin D-Dependent Rickets (VDDR) - Type I
b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II

A

b. Hereditary Vitamin D Resistant Rickets (HVDRR) - Type II

159
Q

What can you conclude about a patient with rickets that has low Calcidiol and high Calcitriol levels?

A

they do not have a 1-alpha-hydroxylase deficiency

not type 1 rickets

160
Q

Why would a patient with rickets have low Calcidiol and high Calcitriol?

A

the low calcium levels cause high PTH, which stimulates 1-a-hydroxylase, thus transforming calcidiol to cacitriol

161
Q

“Hereditary Vitamin D Resistant Ricket” (HVDRR) is also known as

A

type 2 rickets

162
Q

Describe Alkaline phosphatase (ALP) concentration in rickets?

A

high due to compensatory mechanisms

163
Q

Whats the best indicator of Vitamin D3 status in a patient? What do you test to determine D3 levels?

A

25-hydroxy-Vit D3 (Calcidiol) is the best indicator because its not modulated by PTH activity

164
Q

If a mutation occurs in DNA binding domain, what occurs?

A

Complete loss of function & alopecia w/ serum calcium (Rickets)

165
Q

If a mutation occurs in vitamin D3 ligand domain of VDR, what occurs?

A

Complete loss of function & alopecia w/ serum calcium (Rickets)

166
Q

Which type of rickets does a patient with deficient 1-a-hydroxylase have?

A

type 1 rickets

167
Q

Do mutations in the DNA binding domain of VDR cause alopecia?

A

yes, mutations in the DNA binding domain of VDR cause complete loss of function & alopecia

168
Q

If a mutation occurs in RXR ligand binding domain of VDR, what occurs?

A

Partial loss of function & No alopecia w/ serum calcium (Rickets)

Arg(274)Leu
His(305)Gln
Ile(314)Ser

169
Q

Why do keratinocytes need vitamin D?

A

hair follicle cycling is dependent on the interaction of VDR / RXR.

170
Q

How does vitamin D non-genomically activates different cell types?

A

by activating intracellular cellular calcium release

171
Q

T/F: bone is made up of 75% inorganic components

A

true

172
Q

If a patient was given a dose of calcium, about what percent would be absorbed?

A

30%. If a 100mg is given, 30mg gets absorbed

173
Q

How does alkaline phosphatase effect phosphate levels?

A

It hydrolyzes phosphate esters and liberates inorganic phosphates, thus increasing phosphate

174
Q

How long does the bone resorption cycle take?

A

3 weeks

175
Q

Which of the following causes secondary osteoporosis?

a. osteoarthritis
b. rheumatoid arthritis

A

b. rheumatoid arthritis

176
Q

How does kidney failure cause secondary hyperparathyroidism?

A

1-alpha-hydroxylase acts in the kidney to activate vitamin D. Kidney failure stops this, causing low vitamin D. Vitamin D is needed for calcium absorption from the GI. When the calcium is decreased PTH is increased to compensate.

177
Q

How do Selective estrogen receptor modulators (SERM) help osteoporosis?

a. increase bone formation
b. stop bone resorption

A

b. stop bone resorption

178
Q

How do high glucocorticoids lead to secondary hyperparathyroidism?

A

they inhibit calcium absorption and induce its excretion, PTH compensates

179
Q

Whats the difference between Calcitonin and Calcimer?

A

Calcimer is a synthetic analog of Calcitonin. So it has a higher receptor affinity and duration.

180
Q

Which of the following best describes Estrogen?

a. increases bone mass
b. decreases bone mass
c. none of them

A

c. none of them

it maintains the bone mass

181
Q

Why are progestational agents used alongside estrogen to treat osteoporosis?

A

because estrogen may cause endometrial cancer, and progesterone like compounds prevent that

182
Q

Patient comes in with osteoporosis. Which of the following options is preferable?

a. Estrogen
b. Raloxifene
c. both the same

A

b. Raloxifene

it acts as an agonist or antagonist based on the tissue. Estrogen acts as an agonist for all

183
Q

Which of the following increases High-density lipoproteins and lowers Low-density lipoproteins?

a. Estrogen
b. Raloxifene
c. both

A

c. both

184
Q

Which TWO of the following must the patient stay in an upright position for 30 minutes after taking? Why?

a. Estrogen
b. Alendronate
c. Risedronate
d. Raloxifene

A

b. Alendronate
&
c. Risedronate

(they’re both bisphosphonates that may cause esophagitis)

185
Q

Which of the following has a side effect of uterine bleeding and venous thromboembolism?

a. Estrogen
b. Alendronate
c. Risedronate
d. Raloxifene

A

a. Estrogen

186
Q

Describe the activity of Raloxifene on the breast?

A

antagonistic

187
Q

How do Bisphosphonates work to treat osteoporosis?

A

they have the P-C-P structure, which is similar to the P-O-P structure of native pyrophosphate. The difference is that the new P-C-P structure is resistant to hydrolysis by alkaline phosphatase, so it stays in the bone matrix longer. They’re anti-resorptive pyrophosphate analogs.

188
Q

Which pyrophosphate bond is stronger?

a. ester bond
b. carbon bond

A

b. carbon bond

resistant to hydrolysis by alkaline phosphatase

189
Q

How is Miacalcin and Calcimer administered?

A

Iv or subcutaneous (NOT orally)

190
Q

What occurs after long term use of calcitonin analogs?

A

(Miacalcin and Calcimer) long term use causes tachyphylaxis
(a decrease in response due to subsensitivity of calcitonin receptors cause this side effect. that basically means the receptor number is low or the post signaling receptor pathway is reduced-> reaction not strong)

191
Q

Which of the following decreases IL-6?

a. Estrogen
b. Alendronate
c. Raloxifene

A

b. Alendronate

Bisphosphonates decrease interleukins

192
Q

Which TWO of the following are markers of bone resorption?

a. alkaline phosphatase
b. osteocalcin
c. n-telopeptide
d. hydroxyproline

A

c. n-telopeptide
&
d. hydroxyproline

A&B are markers for bone formation

193
Q

How does Sevelamer treat hyperparathyroidism?

A

by binding to phosphate in the GI and inhibiting it’s absorption. Pi decreases and Ca increases, causing inhibition of PTH

194
Q

How does Calcitriol treat hyperparathyroidism?

A

by suppressing the PTH hormone gene expression

195
Q

How does Cinacalcet treat hyperparathyroidism?

A

by increasing receptor sensitivity to Ca, causing more negative inhibition to lower PTH

196
Q

What are two markers for bone formation?

A

alkaline phosphatase & osteocalcin

197
Q

The quality of bone depends on

a. bone mass
b. bone architecture

A

b. bone architecture

198
Q

Which one factor mostly determines peak bone mass?

A

genetics 70-80%

199
Q

Which physiological changes causes accelerated bone mass in the remodeling phase?

A

menopause

200
Q

Compare the peak bone mass of white versus black people

A

black people have a higher peak bone mass

201
Q

The quantity of bone depends on

a. bone mass
b. bone architecture

A

a. bone mass

202
Q

Which is a risk factor for osteoporosis?

a. osteoarthritis
b. rheumatoid arthritis

A

b. rheumatoid arthritis

203
Q

Whats the most important drug that’s associated with osteoporosis?

A

glucocorticoids

204
Q

osteomalacia versus osteoporosis

A

Osteoporosis is reduction of mass of the bones. On the other hand osteomalacia is the softening of the bones.
Osteoporosis can be cause due to deficiency of vitamin D, while osteomalacia is caused by a deficiency in calcium and phosphorus.

205
Q

How do glucocorticoids induce osteoporosis?

A
  • increases bone resorption by stimulating osteoclasts
  • decreased Ca inhibiting its reabsorption
  • suppressing bone formation by inhibiting osteoblasts and antagonizing PTH
206
Q

Whats a risk factor for fractures?

A

osteoporosis

207
Q

Whats the most serious osteoporotic fractures?

A

hip fractures (many complications, can lead to death)

208
Q

What does the FRAX tool measure?

A

calculates a ten-year probability of a major osteoporotic fracture

209
Q

Primary vs secondary osteoporosis prevention

A
primary = prevent first fractures
secondary = prevent furthet fractures
210
Q

DXA scan spine checks for

a. bone quality
b. bone mass

A

b. bone mass

DXA scan = bone mineral density scan

211
Q

What do you do when a patient is too obese to fit in the DXA scan?

A

measure bone density of radius (1/3 of it)

212
Q

Which of the following measurements of bone mineral density compares the patients bone mass to a population that is age, sex, race matched?

a. T score
b. Z score

A

b. Z score

213
Q

Patient comes in with a hip fracture due to a minor fall. Can you assume they have osteoporosis without further testing?

A

yes, if they have a fragitlity fracture its enough to diagnose

214
Q

Patient’s T-score is -1.5, what does he have?

A

osteopenia

-1 to -2.5

215
Q

What percent of calcium is bound to albumin?

A

40%

216
Q

Which of the following measurements of bone mineral density compares the patients bone mass to a population that at the peak bone mass?

a. T score
b. Z score

A

a. T score

NOT age, race, sex matched

217
Q

Whats true?

a. higher albumin levels increase corrected calcium levels
b. higher albumin levels decrease corrected calcium levels

A

b. higher albumin levels decrease corrected calcium levels

inverse relationship

218
Q

65 y/o patient with high Ca, low Pi, and high PTH. What’s the diagnosis?

A

primary hyperparathyroidism

the high Ca isn’t suppressing the PTH

219
Q

The T score of a 55 y/o women is -2.2 in the spine and -3.2 in the hip. Whats the diagnosis?

a. osteopenia
b. osteoporosis

A

b. osteoporosis

you only need one location to be osteoporotic for the diagnosis

220
Q

WHats the gold standard for diagnosing osteoporosis?

A

bone mineral density measurement (DEXA scan)

221
Q

What is the best imaging modality for the pituitary gland?

A

MRI

222
Q

What is the best imaging modality for seeing pituitary gland calcifications/bony destruction?

A

CT scan

223
Q

What are the tracheal rings that the thyroid gland sits on top of?

A

second to the fourth tracheal ring

224
Q

The thyroid extends from

a. C4 to T2
b. C3 to T1
c. C5 to T1
d. C5 to T2

A

c. C5 to T1

225
Q

What are the two cartilages that the thyroid gland sits on top of?

A

thyroid and cricoid cartilage

226
Q

What is the best imaging modality for the thyroid gland?

A

ultrasound

227
Q

What tests do you use during the retrosternal extension of the thyroid?

A

CT/MRI

to asses the extent of expansion

228
Q

Give me 5 reasons why ultrasound are awesome

A
  • widely available
  • cheap
  • easy to use
  • no ionizing radiation
  • good for procedures like fine needle aspiration
229
Q

Where is the head of the pancreas located

A

C loop of duodenum

230
Q

What is the best imaging modality for the pancreas?

A

CT scan

231
Q

What do you use to test a patient you suspect of having a common bile duct blockage?

A

Magnetic resonance cholangiopancreatography (MRCP)

use to do it with an endoscope, but now just the MRI

232
Q

What test do you use to test for pancreatic calcifications?

A

CT scan

233
Q

Which adrenal gland is (usually) larger?

A

left

234
Q

A tumor of the medulla of the adrenal gland is called

A

Pheochromocytoma

235
Q

High amylase enzyme indicates

A

pancreatitis

236
Q

Which (one or two) of the following causes bone loss?

a. coupled and balanced bone remodeling
b. coupled and unbalance bone remodeling
c. uncoupled bone remodeling

A

b. coupled and unbalance bone remodeling
&
c. uncoupled bone remodeling

237
Q

What are two functions of bone in the extracellular fluid?

A

excite nerves and muscle

blood clotting

238
Q

What percent of calcium is bound to phosphate?

A

10%

so 40% with albumin, 10% with phosphate, and the rest is free

239
Q

Whats the predominant form of vitamin D in blood?

A

25 hydroxycholecalciferol (Calcifediol)

240
Q

What is the only hypocalcemic hormone?

A

calcitonin

241
Q

How can sarcoidosis lead to hypercalcemia?

A

(granulomatous diseases) can cause an extra-renal hydroxylation of vitamin D leading to high vitamin D which then leads to high calcium absorption and hypercalcemia

242
Q

A patient has malabsorption issues, due to that, high PTH levels get high. Which is more accurate?

a. primary hyperparathyroidism
b. secondary hyperparathyroidism
c. tertiary hyperparathyroidism

A

b. secondary hyperparathyroidism

243
Q

Whats the main storage form of vitamin D in the body?

A

25 hydroxycholecalciferol (Calcifediol)

244
Q

Which has poor calcification?

a. rickets
b. osteomalacia
c. both

A

c. both

245
Q

Which is caused by incomplete mineralization?

a. rickets
b. osteomalacia
c. both

A

a. rickets

246
Q

A patient has high PTH levels due to hyperplasia in a long-standing disease. Which is more accurate?

a. primary hyperparathyroidism
b. secondary hyperparathyroidism
c. tertiary hyperparathyroidism

A

c. tertiary hyperparathyroidism

247
Q

Which causes bone deformity?

a. rickets
b. osteomalacia
c. both

A

a. rickets

248
Q

Which is cause by demineralization?

a. rickets
b. osteomalacia
c. both

A

b. osteomalacia

249
Q

Describe calcium levels in rickets

A

low

250
Q

Describe alkaline phosphatase (ALP) levels in rickets

A

high

251
Q

Describe 25 hydroxycholecalciferol (Calcifediol) levels in rickets

A

low

252
Q

A lady with dowager’s hump most probably has…

A

osteoporosis

253
Q

How do you determine the cause of rickets?

A

renal function tests
Calcifediol levels
PTH in blood

254
Q

T/F: excess caffeine intake may lead to osteoporosis

A

true, its one of the minor risk factors (along with smoking)

255
Q

What byproduct of muscle metabolism is used to determine kidney function

A

creatinine

256
Q

Which bone disorders does high Alkaline Phosphatase indicate?

A

Paget disease or rickets/osteomalacia

disorders with high osteoblastic acitivty

257
Q

A 45 y/o man comes in with osteoporosis, what additional test must be done?

A

testosterone

258
Q

A patient with moon face and abdominal striae has osteoporosis, what additional test must be done?

A

24 hour urine cortisol (because crushing syndrome is associates with osteoporosis!)

259
Q

A patient comes in with osteoporosis and suspected paraproteinemia, what additional test must be done?

A

serum protein electrophoresis (SPEP) test OR Urine protein electrophoresis (UPEP)

(the patient may have multiple myeloma, which causes deposits in the bone leading to bone loss)

260
Q

Patient has mosaic bone pattern. What’s more likely?

A

Paget’s disease

261
Q

How is Paget’s disease linked to deafness and nerve entrapment?

A

bone growth causes compression to surroundings leading to deafness + compression of nerves

262
Q

Whats the complication of an immobilized patient with Paget’s disease?

A

hypercalcemia

263
Q

Whats a marker of bone resorption? give an example where you’ll find high levels of it.

A

hydroxyproline; Paget’s disease

264
Q

Patient has patchy and thick looking X-ray images. What’s more likely?

A

Paget’s disease

265
Q

What percent of DNA is different between each human?

A

0.5%

266
Q

low-frequency SNPs are also known as

A

germline mutations

267
Q

Give me examples of two syndromic obesity-related to chromosomal abnormalities

A

Prader-Willi (PWS) syndrome

Bardet-Biedl (BBS) syndrome

268
Q

Which of the following mostly depends on genetics and very little on environment?

a. Monogenic obesity
b. Polygenic obesity

A

a. Monogenic obesity

269
Q

Give an example of one gene directly related to body mass

A

FTO gene

270
Q

Which of the following phenotypes of the FTO gene would have a higher body weight on average?

a. AA
b. AT
c. TT

A

a. AA

271
Q

Why do kids with AA FTO gene phenotype eat more when exposed to advertisements about food?

A

The FTO gene is involved in regulating the dopamine reward pathway, so kids with AA phenotype would experience a higher dopamine activation than kids w/TT (thus would eat more)

272
Q

Which of the following phenotypes of the FTO gene would the ketogenic diet work best for?

a. AA
b. AT
c. TT

A

c. TT

AA phenotype doesn’t metabolize fat as well as the TT

273
Q

Which is amplified by an obesogenic lifestyle?

a. Monogenic obesity
b. Polygenic obesity

A

b. Polygenic obesity

274
Q

What are the two most common monogenic mutations that may lead to obesity

A

Melanocortin 4 receptor (MC4R) and Leptin (LEP) genes

275
Q

How many defective copies of the LEP gene do you have to have to get the leptin deficiency?

A

two, its homozygous

276
Q

How can how can knowing the genetic phenotype of the patient help in medicine?

A

it can help us chose the appropriate treatment. (ex/ if patient is likely to become diabetic again after the bariatric surgery, we can continue giving him the treatment in lower doses instead of stopping it completely)

277
Q

Whats the number one treatment for morbid obesity?

A

bariatric surgery (many studies show individuals losing weight via lifestyle modifications and then regaining the weight)

278
Q

A morbidly obese patient comes in with almost no leptin in the blood. She explains that she has a normal weight when born but started gaining weight afterwards, whats a likely diagnosis?

A

Congenital Leptin Deficiency (CLD)

279
Q

Congenital Leptin Deficiency (CLD) is caused by the defect of which gene?

A

LEP gene

280
Q

T/F: we are able to accurately predict the sustainability of bariatric surgery via genetic testing

A

true

281
Q

LEP gene defect affects which of the following

a. leptin ligand
b. leptin receptor

A

a. leptin ligand