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cytogen > GAUCHER'S DISEASE, LSD, FH > Flashcards

GAUCHER'S DISEASE, LSD, FH Flashcards

1
Q

It is the buildup fatty substances particularly in the spleen and liver and this buildup may cause organs to enlarge.

A

GAUCHER’S DISEASE

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2
Q

Non neuronopathic Gaucher disease = ______
_____________________________________= Type 2
Chronic neuronopathic Gaucher disease = _____

A

Type 1
Acute neuronopathic Gaucher disease
Type 3

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3
Q

What are the S&S of Gaucher’s disease?

A
  • Abdominal complaints
  • Skeletal abnormalities
  • Blood disorders
  • Neurological symptoms
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4
Q

What are the treatment for Gaucher’s disease?

A
  • Enzyme replacement therapy (ERT)
  • Substrate reduction therapy (SRT)
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5
Q

Which among the types of Gaucher’s disease is treatable?

A

Type 1

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6
Q

What specific ancestry is at higher risk of developing Gaucher’s disease?

A

Ashkenazi

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7
Q

What is the primary cause of Gaucher disease?

A

GENETIC MUTATION

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8
Q

Which ethnic group is at a higher risk of developing Gaucher disease?

A

EASTERN AND CENTRAL EUROPEAN JEWISH

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9
Q

Which type of Gaucher disease is typically fatal in infancy?

A

TYPE 2

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10
Q

Which organ enlargement is commonly associated with Gaucher disease?

A

SPLEEN/LIVER

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11
Q

What treatment options are available for Gaucher disease type 1?

A

ENZYME REPLACEMENT THERAPY (ERT)

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12
Q

This is a disease that has more than 70 rare diseases

A

Lysosomal Storage Disease

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13
Q

People with these disorders are missing important enzymes. Without those enzymes, the lysosome isn’t able to break down these substances

A

Lysosomal Storage Disease

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14
Q

It is caused by mutations in genes that
encode lysosomal enzymes or proteins involved in lysosomal function

A

LSD

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15
Q

Mutations in the following:
lsd GM1-gangliosidosis

A

GLB1 gene

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16
Q

Mutations in the following:
mucopolysaccharidoses

A

HGSNAT, HYAL1, IDS, IDUA, NAGLU

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17
Q

What are the signs and symptoms of LSD?

A
  • Enlarged organs
  • Neurological symptoms
  • Cardiovascular symptoms
  • Skeletal abnormalities
  • Respiratory complications
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18
Q

What are the treatment for LSD?

A
  • Enzyme replacement therapy (ERT)
  • substrate reduction therapy (SRT)
  • chaperone therapy
  • gene therapy
  • symptomatic management
19
Q

How many degrative enzymes do lysosomes contains?

A

50

20
Q

How many lysosomes are there per mammalian cell?

A

50 - 1000 lysosomes

21
Q

What is the first LSD to be describes?

A

Gaucher disease in 1882

22
Q

What is the LSD to be describe after Gaucher disease in 1882?

A

Fabry disease in 1898

23
Q

Give a symptom of lysosomal storage diseases?

A

HEPATOMEGALY / ENLARGED ORGAN

24
Q

Lysosomal storage diseases are primarily caused by?

A

GENETIC MUTATIONS

25
Q

What is a function of lysosomes in the cell?

A
  • BREAK DOWN EXCESS OR WORN-OUT CELL PARTS
  • WASTE DISPOSAL
  • DESTROY INVADING VIRUSES OR BACTERIA
  • HELP INITIATE CELL DEATH
  • RECYCLE CELLULAR DEBRIS
26
Q

What disease is associated with a mutation in the GLB1 Gene?

A

LSD GM1-GANGLIOSIDOSIS

27
Q

This diagnostic test for LSD can assess enzyme activity level

A

BLOOD TEST

28
Q

associated with defects in receptor proteins

A

FAMILIAL HYPERCHOLESTERLEMIA

29
Q

stands as a prime example of the intersection between genetics and cardiovascular health

A

FAMILIAL HYPERCHOLESTERLEMIA

30
Q

What characterized Familial Hypercholesterolemia?

A

Elevated levels of LDL

31
Q

What causes the Familial Hypercholesterolemia?

A

Mutation sin the LDLR gene

32
Q

What are the signs and symptoms of Hypercholesterolemia?

A
  • Chest pain (angina)
  • Cramping
  • Sudden stroke-like symptom
  • Drooping on one side of the face
  • Weakness
  • Loss of balance
33
Q

What is the preferred diagnosis for Familial Hypercholesterolemia?

A

Genetic testing

34
Q

What is the other option to check for LDL cholesterol levels?

A

Blood work

35
Q

It is a diagnosis in the FH that is described as fatty skin deposits over parts of the hands, elbows, knees, ankles, and around the cornea of the eye.

A

Xanthomas

36
Q

It is a cholesterol deposits in the eyelids.

A

Xanthelasmas

37
Q

What are the medications for FH?

A
  • Statins
  • Aspirin
  • Other cholesterol-lowering medications
38
Q

It is a material that is used by bees to build their hives and contains a touch of cholesterol?

A

Beeswax

39
Q

TRUE OR FALSE:
Astronomers have detected the presence of cholesterol molecules in space

A

TRUE

40
Q

What specie has a very high levels of cholesterol in their liver, which helps regulate their buoyancy?

A

Sharks

41
Q

What cholesterol level is considered as Hypercholesterolemia?

A

> 200 mg/dL

42
Q

give me one example of good cholesterol

A

HDL

43
Q

Give one (1) specific treatment for FH

A

Lifestyle changes:
* Heart-healthy diet
* Regular exercise
* Weight management
- Medications:
* Statins
* Aspirin
* Other cholesterol-lowering medications
- Regular monitoring:
* Blood test
- Genetic counseling:
* Genetic testing and counseling
- Advanced therapies:
* LDL apheresis
* Gene therapy

44
Q

Give me one potential complication associated with elevated levels of LDL (low-density lipoprotein) in the bloodstream.

A

SEVERE CARDIOVASCULAR COMPLICATIONS
HEART ATTACKS AND STROKES
ATHEROSCLEROSIS
CORONARY ARTERY DISEASE
MYOCARDIAL INFARCTION
ISCHEMIC STROKE

cytogen (19 decks)

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