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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
T/F: Blast cells are prevalent in acute leukemias.
True Mature WBCs in chronic
26
What is a hallmark of CML?
Philedelphia Chromosome
27
What is the most common leukemia?
CLL Good prognosis
28
T/F: In patients with cirrhosis or CHF, they will have transudate edema.
True
29
What is virchow's triad?
Three reasons for thrombus 1. Alteration in blood flow 2. Endothelial injury 3. Hypercoagulation
30
T/F: Smoking and oral contraceptives increase the chance of blood clotting.
True
31
T/F: Lines of Zahn will be seen in a deep vein thrombosis.
False Lines of Zahn in arterial thrombosis
32
T/F: Arterial thrombi can break into an embolus and are likely to go to the lungs.
False Likely to go to brain, kidney, or spleen Venous goes to lungs
33
What are the six things that can cause an embolism?
FAT BAT ``` Fat Air Thrombus Bacteria Amniotic fluid Tumor ```
34
A massive MI or arrhythmia can lead to left ventricular failure causing which type of shock?
Cardiogenic
35
T/F: Decrease in blood volume leads to hypovolemic shock.
True
36
T/F: Blood flow has a higher volume through an area of atherosclerotic plaque.
True Can lead to injury
37
What are the most susceptible arteries to atherosclerosis?
Aorta and coronary arteries
38
What is the difference between atherosclerosis and arteriosclerosis?
Athero - big vessels, can lead to arteriosclerosis Arterio - small vessels, renal vessels = renal failure
39
What are 6 risk factors for CV disease?
1. Over 50 2. Family history 3. Hypertension 4. Smoking 5. Hypercholesterolemia 6. Diabetes
40
Which autosomal dominant disease causes anomalies in LDL and can lead to MI by age 20?
Familial hypercholesterolemia
41
T/F: In hypertension there is an increase in CO and TPR.
True
42
What blood pressure reading indicates medical treatment for hypertension?
140 (systolic)/90 (diastolic)
43
What is the most common cause of secondary hypertension?
Renal disease
44
What are the two types of heart failure?
Diastolic: can't fill Systolic: can't pump
45
What is the most common cause of left sided heart failure?
MI
46
What are some signs of left sided heart failure?
1. Exertional dyspnea (labored breathing) | 2. Pulmonary edema
47
T/F: Left sided heart failure is usually caused by right sided heart failure.
False Right sided caused by left sided Left side can't pump enough -> fluid builds up in lungs -> right side effected
48
What are some signs of right heart failure?
Systemic edema, lower leg ascites
49
T/F: Rheumatic fever is a strep infection.
False Inflammatory response to strep infection
50
What are some symptoms of rheumatic fever?
1. Fever 2. Elevated ESR 3. Red-hot joints 4. Endocarditis
51
Which valve is most often affected by IV drug users?
Tricuspid (right AV)
52
Which bacterial species most often causes subacute (bacterial) endocarditis? Acute endocarditis?
Subacute: Strep Acute: Staph

NBDE Part 1 (31 decks)

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