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NBDE Part 1 > Path: Autosomal Recessive, CV > Flashcards

Path: Autosomal Recessive, CV Flashcards

1
Q

What is the DNA substitution that results in sickle cell?

A

Valine over glutamic acid

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2
Q

Which three glycogen storage diseases are autosomal recessive?

A
  1. von Gierke disease
  2. Pompe disease
  3. McArdle syndrome
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3
Q

Which of the two mucopolysaccharide storage diseases is autosomal recessive?

A

Hurler’s syndrome

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4
Q

T/F: Hunter’s syndrome is X-linked recessive.

A

True

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5
Q

T/F: Lipid storage diseases (i.e. Tay-Sachs, Niemann Pick, Gaucher’s) are all autosomal recessive.

A

True

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6
Q

T/F: Adult polycystic kidney disease is autosomal recessive.

A

False

Child form is

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7
Q

T/F: Hemophilia A (Classic hemophilia) is an autosomal recessive disorder.

A

False

X-linked recessive

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8
Q

T/F: Hemophilia will result in higher PT and bleeding from smaller vessels.

A

False

Platelet disorders = high PT and small vessel bleeding

Hemophilia = high PTT and large vessel bleeding

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9
Q

Which clotting factor is deficient in Hemo A?

A

VIII

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10
Q

T/F: A vitamin K deficiency will result in lower PT and PTT, but normal platelet count.

A

True

Warfarin (Coumadin) inhibits vitamin K

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11
Q

Which X-linked recessive disorder will lead to RBC destruction and anemia?

A

G6PD deficiency

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12
Q

What is the difference between microcytic and macrocytic anemia?

A

Microcytic: smaller RBC (Fe)
Macrocytic: larger RBC (B12 and folate)

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13
Q

What is the consequence of autoimmune gastritis?

A

Failure of parietal cells to produce intrinsic factor -> B12 not absorbed -> pernicious anemia

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14
Q

What is pancytopenia?

A

Decrease in all blood cells (RBC and WBC)

Happens in aplastic anemia (bone marrow)

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15
Q

Why would kidney disease cause anemia?

A

Less erythropoietin produced -> less RBC production in marrow

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16
Q

Multiple myeloma is a cancer in _______ that effects mostly men over 40.

A

plasma cells

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17
Q

Presence of which protein in the urine confirms multiple myeloma?

A

Bence-Jones

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18
Q

T/F: Multiple myeloma results in punched out bone radiolucencies.

A

True

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19
Q

What pain is associated with multiple myeloma?

A

Severe and constant back and rib pain

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20
Q

What is the hallmark of Hodgkin’s Lymphoma?

A

Reed-Sternberg cells

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21
Q

Which viral infection is associated with Hodgkin’s Lymphoma?

A

EBV (mono)

22
Q

T/F: Reed-Sternburg cells are the neoplastic cells in non-Hodgkin’s Lymphoma.

A

False

B cell (85%)
T cell (15%)
23
Q

What is the hallmark of Acute Myeloblastic Leukemia?

24
Q

T/F: Acute Myeloblastic Leukemia has a good prognosis.

A

False

ALL (kids) has good prognosis

25
Q

T/F: Blast cells are prevalent in acute leukemias.

A

True

Mature WBCs in chronic

26
Q

What is a hallmark of CML?

A

Philedelphia Chromosome

27
Q

What is the most common leukemia?

A

CLL

Good prognosis

28
Q

T/F: In patients with cirrhosis or CHF, they will have transudate edema.

29
Q

What is virchow’s triad?

A

Three reasons for thrombus

  1. Alteration in blood flow
  2. Endothelial injury
  3. Hypercoagulation
30
Q

T/F: Smoking and oral contraceptives increase the chance of blood clotting.

31
Q

T/F: Lines of Zahn will be seen in a deep vein thrombosis.

A

False

Lines of Zahn in arterial thrombosis

32
Q

T/F: Arterial thrombi can break into an embolus and are likely to go to the lungs.

A

False

Likely to go to brain, kidney, or spleen

Venous goes to lungs

33
Q

What are the six things that can cause an embolism?

A

FAT BAT

Fat
Air
Thrombus
Bacteria
Amniotic fluid
Tumor
34
Q

A massive MI or arrhythmia can lead to left ventricular failure causing which type of shock?

A

Cardiogenic

35
Q

T/F: Decrease in blood volume leads to hypovolemic shock.

36
Q

T/F: Blood flow has a higher volume through an area of atherosclerotic plaque.

A

True

Can lead to injury

37
Q

What are the most susceptible arteries to atherosclerosis?

A

Aorta and coronary arteries

38
Q

What is the difference between atherosclerosis and arteriosclerosis?

A

Athero - big vessels, can lead to arteriosclerosis

Arterio - small vessels, renal vessels = renal failure

39
Q

What are 6 risk factors for CV disease?

A
  1. Over 50
  2. Family history
  3. Hypertension
  4. Smoking
  5. Hypercholesterolemia
  6. Diabetes
40
Q

Which autosomal dominant disease causes anomalies in LDL and can lead to MI by age 20?

A

Familial hypercholesterolemia

41
Q

T/F: In hypertension there is an increase in CO and TPR.

42
Q

What blood pressure reading indicates medical treatment for hypertension?

A

140 (systolic)/90 (diastolic)

43
Q

What is the most common cause of secondary hypertension?

A

Renal disease

44
Q

What are the two types of heart failure?

A

Diastolic: can’t fill

Systolic: can’t pump

45
Q

What is the most common cause of left sided heart failure?

46
Q

What are some signs of left sided heart failure?

A
  1. Exertional dyspnea (labored breathing)

2. Pulmonary edema

47
Q

T/F: Left sided heart failure is usually caused by right sided heart failure.

A

False

Right sided caused by left sided

Left side can’t pump enough -> fluid builds up in lungs -> right side effected

48
Q

What are some signs of right heart failure?

A

Systemic edema, lower leg ascites

49
Q

T/F: Rheumatic fever is a strep infection.

A

False

Inflammatory response to strep infection

50
Q

What are some symptoms of rheumatic fever?

A
  1. Fever
  2. Elevated ESR
  3. Red-hot joints
  4. Endocarditis
51
Q

Which valve is most often affected by IV drug users?

A

Tricuspid (right AV)

52
Q

Which bacterial species most often causes subacute (bacterial) endocarditis? Acute endocarditis?

A

Subacute: Strep

Acute: Staph

NBDE Part 1 (31 decks)

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