Pathways

Question 1

What 2 measurements does Warfarin increase?

Answer 1

Prothrombin time (PT) and International normalized ratio (INR)

Question 2

How does Warfarin work to prevent blood clots?

Answer 2

It interferes with synthesis of the Vitamin-K dependent clotting factors of the liver

Question 3

What are the Vitamin K dependent clotting factors of the liver?

Answer 3

II, VII, IX, X

Question 4

What pathway do INR and PT represent?

Answer 4

The extrinsic coagulation pathway

Question 5

Factor I

Answer 5

Fibrinogen

Question 6

Factor II

Answer 6

Prothrombin

Question 7

Which factors are involved in INR/PT?

Answer 7

I, II, V, VII, and X

Question 8

What pathway does the activated partial thromboplastin time (aPTT) represent?

Answer 8

The intrinsic and common coagulation pathway

Question 9

What antibiotic is likely to interfere with Warfarin?

Answer 9

Clarithromycin or other macrolides

Question 10

How do certain antibiotics interfere with Warfarin?

Answer 10

They inhibit CYP3A4 hepatic enzymes and raise the level of Warfarin in the blood.

Question 11

What is the first marker of pregnancy?

Answer 11

hCG

Question 12

What does hCG stand for?

Answer 12

Human chorionic gonaditrophin

Question 13

How is hCG produced?

Answer 13

The fetal trophoblast secretes this after implantation

Question 14

What concentration pattern does hCG follow in pregnancy?

Answer 14

It increases exponentially from implantation through week 10 of pregnancy then tapers off

Question 15

What maternal hormone does hCG mimic?

Answer 15

Luteinizing hormone

Question 16

In what manner does hCG help continue a healthy pregnancy?

Answer 16

It “rescues” the corpeus luteum, preventing it from degenerating, maintaining healthy levels of progesterone and estrogen

Question 17

Which maternal hormone is essential for maintaining uterine lining during the first 10 weeks of fetal development?

Answer 17

Progesterone

Question 18

What does hPL stand for?

Answer 18

Human placental lactogen

Question 19

How is hPL produced?

Answer 19

The fetus produces this from the early trophoblast stage throughout pregnancy

Question 20

What concentration pattern does hPL follow in pregnancy?

Answer 20

It appears in early pregnancy and steadily rises throughout pregnancy, proportionally to fetal mass

Question 21

What is the function of hPL in pregnancy?

Answer 21

It functions to ensure adequate nutrition delivery to the fetus

Question 22

What is hPL homologous to?

Answer 22

Human growth hormone

Question 23

What concentration pattern does progesterone follow in pregnancy?

Answer 23

It slowly rises throughout the entire pregnancy

Question 24

What is the source of progesterone in the first trimester?

Answer 24

the corpeus luteum

Question 25

What is the source of progesterone after the first trimester?

Answer 25

the placenta

Question 26

What does 17-OH progesterone measure in pregnancy?

Answer 26

The contribution of the corpus luteum to circulating progesterone

Question 27

Which enzyme converts progesterone to 17-OH progesterone?

Answer 27

17-hydrolase

Question 28

What concentration pattern does 17-OH progesterone follow in pregnancy?

Answer 28

It slowly raises over the first 5 weeks, then decreases as the progesterone control transitions from the corpeus luteum to the placenta

Question 30

What is McArdle disease?

Answer 30

A glycogen storage disease that impairs phosphorolysis of glycogen

Question 31

What protein is encoded by the PYGM gene

Answer 31

myophosphorylase (muscle isoform glycogen phosphorylase)

Question 32

What is the inheritance pattern for McArdle disease

Answer 32

Autosomal recessive

Question 33

What is unique about McArdle disease compared to other glycogen storage diseases

Answer 33

It is restricted to muscle only

Question 34

What lab findings suggest McArdle disease?

Answer 34

Myoglobinuria and elevated CK

Question 35

What is Krabbe disease?

Answer 35

It is a lysosomal storage disease that affects the myelin sheaths of the central nervous system

Question 36

What are the symptoms of Krabbe disease?

Answer 36

Hypertonia, irritability, hyperesthesia, pyscomotor retardation, and early death

Question 37

What causes Krabbe disease?

Answer 37

Galactocerebrosidase deficiency

Question 38

What is the inheritance pattern for Krabbe disease?

Answer 38

Autosomal recessive

Question 39

What is Von Gierke Disease?

Answer 39

A glycogen storage disease that prominently impacts the liver, intestine an kidneys

Question 40

What are clinical signs of Von Gierke Disease?

Answer 40

Severe hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia and short stature

Question 41

What causes Von Gierke disease?

Answer 41

Glucose 6-phosphatase deficiency

Question 42

What is Niemann-Pick disease?

Answer 42

A lysosomal storage disease

Question 43

What causes Niemann-Pick disease?

Answer 43

Sphingomyelinase deficiency

Question 44

What are the clinical signs of Niemann-Pick disease?

Answer 44

Hepatosplenomegaly, microcephaly, severe intellectual disability, and early death. Some patients have cherry red spots and macula

Question 45

What is Hartnup disease?

Answer 45

A disorder caused by neutral amino acid transportation in the intestine and kidneys

Question 46

What is the inheritance pattern for Hartnup disease?

Answer 46

Autosomal recessive

Question 47

What are the clinical signs of Hartnup disease?

Answer 47

Pellagra-like skin eruptions, cerebellar ataxia and aminoaciduria

Question 48

Endocardial cushion defect

Question 49

Transposition of the great vessels

Question 50

Myocarditis

Question 51

Patent ductus arteriosus

Question 52

Tetralogy of Fallot

Question 53

What is the most common type of cyanotic congenital heart disease?

Answer 53

Tetralogy of Fallot

Question 54

What two factors impact the severity of symptoms caused by the tetrology of Fallot?

Answer 54

The size of the ventricular septal defect and the degree of the right ventricular outflow tract obstruction

Question 55

When does acyanotic tetralogy occur?

Answer 55

When there is sufficient pulmonary blood flow caused by mild obstruction and the shunting across the ventricular septal defect is balanced

Question 56

What presentation is seen in the Tetralogy of Fallot?

Answer 56

Paroxysmal hypercyanotic attacks, delayed growth and development, and dyspnea

Question 57

Coeur en sabot

Answer 57

Boot shaped heart

Question 58

What is the clinical presentation for benign positional vertigo?

Answer 58

Nystagmus and paroxysmal vertigo triggered by movement. There are no changes in hearing.

Question 59

What is another word for benign recurrent vertigo?

Answer 59

Vestibular neuronitis

Question 59

What is the clinical presentation for vestibular neuronitis?

Answer 59

Sudden onset of vertigo, nausea, vomiting without any change in hearing.

Question 60

What is the clinical presentation for toxic labyrinthitis?

Answer 60

Vertigo

Question 61

What causes toxic labyrinthitis?

Answer 61

Certain medications and drugs

Question 62

What are common triggers of toxic labyrinthitis?

Answer 62

Alcohol and aminoglycoside antibiotics

Question 63

What are some aminoglycoside antibiotics?

Answer 63

gentamicin amikacin tobramycin gentamicin ophthalmic kanamycin streptomycin Neo-Fradin neomycin

Question 64

What is the clinical presentation of Meniere's disease?

Answer 64

(usually) Unilateral tinnitus, vertigo, feeling of "fullness" muffled hearing sensation, and progressive hearing loss

Question 65

What is a craniopharyngioma?

Answer 65

A rare, benign brain tumor formed near the anterior brain stem