Pathways Flashcards

1
Q

What 2 measurements does Warfarin increase?

A

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

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2
Q

How does Warfarin work to prevent blood clots?

A

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

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3
Q

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

A

II, VII, IX, X

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4
Q

What pathway do INR and PT represent?

A

The extrinsic coagulation pathway

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5
Q

Factor I

A

Fibrinogen

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6
Q

Factor II

A

Prothrombin

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7
Q

Which factors are involved in INR/PT?

A

I, II, V, VII, and X

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8
Q

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

A

The intrinsic and common coagulation pathway

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9
Q

What antibiotic is likely to interfere with Warfarin?

A

Clarithromycin or other macrolides

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10
Q

How do certain antibiotics interfere with Warfarin?

A

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

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11
Q

What is the first marker of pregnancy?

A

hCG

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12
Q

What does hCG stand for?

A

Human chorionic gonaditrophin

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13
Q

How is hCG produced?

A

The fetal trophoblast secretes this after implantation

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14
Q

What concentration pattern does hCG follow in pregnancy?

A

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

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15
Q

What maternal hormone does hCG mimic?

A

Luteinizing hormone

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16
Q

In what manner does hCG help continue a healthy pregnancy?

A

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

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17
Q

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

A

Progesterone

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18
Q

What does hPL stand for?

A

Human placental lactogen

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19
Q

How is hPL produced?

A

The fetus produces this from the early trophoblast stage throughout pregnancy

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20
Q

What concentration pattern does hPL follow in pregnancy?

A

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

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21
Q

What is the function of hPL in pregnancy?

A

It functions to ensure adequate nutrition delivery to the fetus

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22
Q

What is hPL homologous to?

A

Human growth hormone

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23
Q

What concentration pattern does progesterone follow in pregnancy?

A

It slowly rises throughout the entire pregnancy

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24
Q

What is the source of progesterone in the first trimester?

A

the corpeus luteum

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25
Q

What is the source of progesterone after the first trimester?

A

the placenta

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26
Q

What does 17-OH progesterone measure in pregnancy?

A

The contribution of the corpus luteum to circulating progesterone

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27
Q

Which enzyme converts progesterone to 17-OH progesterone?

A

17-hydrolase

28
Q

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

A

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

29
Q
A
30
Q

What is McArdle disease?

A

A glycogen storage disease that impairs phosphorolysis of glycogen

31
Q

What protein is encoded by the PYGM gene

A

myophosphorylase (muscle isoform glycogen phosphorylase)

32
Q

What is the inheritance pattern for McArdle disease

A

Autosomal recessive

33
Q

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

A

It is restricted to muscle only

34
Q

What lab findings suggest McArdle disease?

A

Myoglobinuria and elevated CK

35
Q

What is Krabbe disease?

A

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

36
Q

What are the symptoms of Krabbe disease?

A

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

37
Q

What causes Krabbe disease?

A

Galactocerebrosidase deficiency

38
Q

What is the inheritance pattern for Krabbe disease?

A

Autosomal recessive

39
Q

What is Von Gierke Disease?

A

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

40
Q

What are clinical signs of Von Gierke Disease?

A

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

41
Q

What causes Von Gierke disease?

A

Glucose 6-phosphatase deficiency

42
Q

What is Niemann-Pick disease?

A

A lysosomal storage disease

43
Q

What causes Niemann-Pick disease?

A

Sphingomyelinase deficiency

44
Q

What are the clinical signs of Niemann-Pick disease?

A

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

45
Q

What is Hartnup disease?

A

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

46
Q

What is the inheritance pattern for Hartnup disease?

A

Autosomal recessive

47
Q

What are the clinical signs of Hartnup disease?

A

Pellagra-like skin eruptions, cerebellar ataxia and aminoaciduria

48
Q

Endocardial cushion defect

A
49
Q

Transposition of the great vessels

A
50
Q

Myocarditis

A
51
Q

Patent ductus arteriosus

A
52
Q

Tetralogy of Fallot

A
53
Q

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

A

Tetralogy of Fallot

54
Q

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

A

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

55
Q

When does acyanotic tetralogy occur?

A

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

56
Q

What presentation is seen in the Tetralogy of Fallot?

A

Paroxysmal hypercyanotic attacks, delayed growth and development, and dyspnea

57
Q

Coeur en sabot

A

Boot shaped heart

58
Q

What is the clinical presentation for benign positional vertigo?

A

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

59
Q

What is another word for benign recurrent vertigo?

A

Vestibular neuronitis

59
Q

What is the clinical presentation for vestibular neuronitis?

A

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

60
Q

What is the clinical presentation for toxic labyrinthitis?

A

Vertigo

61
Q

What causes toxic labyrinthitis?

A

Certain medications and drugs

62
Q

What are common triggers of toxic labyrinthitis?

A

Alcohol and aminoglycoside antibiotics

63
Q

What are some aminoglycoside antibiotics?

A

gentamicin
amikacin
tobramycin
gentamicin ophthalmic
kanamycin
streptomycin
Neo-Fradin
neomycin

64
Q

What is the clinical presentation of Meniere’s disease?

A

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

65
Q

What is a craniopharyngioma?

A

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

66
Q
A