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CRAM > High Yield Diseases IMO > Flashcards

High Yield Diseases IMO Flashcards

1
Q

What is Fabry disease a deficiency of and what accumulates?

A

Deficiency of alpha galactosidase A and a accumulation of Globotriaosylceramide

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2
Q

What are the symptoms of fabry disease?

A

Angiokeratomas: reddish blue capillary lesions
Peripheral neuroapthy
Glomerulopathy

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3
Q

What is the deficiency and accumulation that occurs in Tay Sachs disease?

A

Beta hexosaminidase A is def

GM2- ganglioside accumulates

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4
Q

What are the symptoms of Tay Sachs disease

A

Macular cherry red spot

Progressive neurodegeneration

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5
Q

What is the deficiency and accumulation that occurs in Gaucher disease?

A

Beta glucocerebrosidase is def

Glucocerebroside accumulates

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6
Q

What are the symptoms of Gaucher disease?

A

Hepatosplenomegaly
Pancytopenia
bone pain and osteopenia

Wrinkled tissue paper cytoplasm

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7
Q

What is the deficiency and accumulation of niemann Pick disease?

A

Sphingomyelinase def

Sphingomyelin builds up

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8
Q

What are the symptoms of Niemann Pick disease?

A

Cherry red spot
Progressive neurodegeneration

hepatosplenomegaly

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9
Q

What is the deficiency and accumulation in Krabbe disease?

A

Galactocerebrosidase def

Galactocerebroside and psychosine accumulation

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10
Q

What are the symptoms of Krabbe disease?

A

Progressive neurodegeneration

Peripheral neuropathy

Optic atrophy and blindness

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11
Q

What is the deficiency and Accumulation of metachromatic leukodystrophy?

A

Arylsulfatase A deficiency

Cerebroside sulfate accumulation

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12
Q

What are the symptoms of metachromatic leukodystrophy?

A

Progressive neurodegeneration

Peripheral neuropathy

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13
Q

What are the possible antibodies that can occur in patients with Graves disease?

A

TSH (thyrotropin) receptor antibody

Thyroid peroxidase antibody

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14
Q

What are the antibodies that are present in Hashimoto disease?

A

Thyroid peroxidase antibody

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15
Q

A 4 month old patient is brought in with recurrent sinopulmonary infections and chronic GI issues.

On examination the patient has small tonsils noted

Labs show decreased Ig’s and decreased CD19

What is the disease?

A

X linked agammaglobulinemia

BTK mutation

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16
Q

What are the changes that are seen in the heart 0-4 hours after an MI?

A

No visible change

17
Q

What are the changes that are seen in the heart 4-12 hours after an MI?

A

Wavy fibers with narrow elongated myocytes

18
Q

What are the changes that are seen in the heart 12-24 hours after an MI?

A

Myocyte hypereosinophilia with pyknotic nuclei

19
Q

What are the changes that are seen in the heart 1-3 days after an MI?

A

Coagulation necrosis

Prominent neutrophilic infiltrate

20
Q

What are the changes that are seen in the heart 3-7 days after an MI?

A

Disintegration of dead neutrophils and myofibers

Macrophage infiltration at border areas

21
Q

What are the changes that are seen in the heart 7-10 days after an MI?

A

Robust phagocytosis of dead cells by macrophages

Beginning formation of granulation tissue at margins

22
Q

What are the changes that are seen in the heart 10-14 days after an MI?

A

Well developed granulation tissue with neovascularization

23
Q

What are the Igs that are associated with Graves disease?

A

igG

24
Q

What is the enzyme that is deficient in Von Gierke disease?

A

Glucose-6-phosphatase

25
Q

What are the symptoms of Von-Gierke disease

A

Glucose 6 phosphatase deficiency: enlarged kidney and liver, slow growth, very low blood sugar, high levels of acids, fats, and uric acid

26
Q

What is the enzyme deficient in Pompe disease?

A

alpha 1-4 glucosidase

Symptoms: hypotnia and cardiomyopathy

27
Q

What is the Ig that is associated with warm agglutinin disease?

A

IgG

28
Q

What is the Ig that is associated with cold agglutinin disease?

A

IgM

anti-C3

29
Q

What are the diseases that are associated with warm agglutinin disease?

A

Lupus

CLL

30
Q

What are the disease that are associated with cold agglutinin disease?

A

mono

Mycoplasma pnemoniae

31
Q

What is another phrase for trochanteric bursitis?

A

Greater trochanteric pain syndrome

32
Q

A patient comes in with fatigue, decreased muscle strength, increased thirst, and increased urination. Labs show evidence of hypertension, hypokalemia, hypernatremia, and metabolic alkalosis. What is the diagnosis?

A

Primary hyperaldosteronism

Give spironolactone (can cause menstrual issues)

33
Q

What are the common symptoms of a patient that is experiencing malignant hyperthermia?

A

In the setting of general anesthesia, increased end tidal CO2 and tachycardia

***give dantrolene

34
Q

What is the pathophysiology and symptoms of mantle cell lymphoma?

A

There is a reciprocal translocation between chromosomes 11 and 14 with a cyclin D1 overexpression from chromosome 11

Extranodal involvement: splenomegaly
nontender lymphadenopathy
Systemic B sx: fever, night sweats, weight loss
Widespread at dx

35
Q

A patient comes in c/o increased headaches, tinnitus and overall bone pain for the past year. You do labs and find that the patient has normal PTH, calcium, and phosphate levels. There is an increase in alkaline phosphattase. What diagnosis are you suspicious of?

A

Osteitis deformans

Paget disease of the bone

Patients can also c/o increased hat size; frontal bones or any bones in the skull can increase in size

36
Q

Patients with sarcoidosis will commonly have increased levels of _____

A

ACE

37
Q

This disease is also known as allergic angiitis. It occurs in patients with a history of asthma. It is a small vessel vasculitis with a positive p-ANCA and has an immune destruction of vessel walls. Increased eosinophils invasion

A

Churg Strauss

CRAM (12 decks)

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