Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FOS 2 > Diseases > Flashcards

Diseases Flashcards

1
Q

What is adrenoleukodystrophy?

  • Defect in what enzyme/pathway?
  • Inheritance
  • How/what organs are affected
  • What is the treatment?
  • When does the disease manifest?
A
  • A defect in the transport of very long chain fatty acids into peroxisomes
  • It is an x-linked disease
  • Results in accumulation of VLCFA in adrenal glands and brain
  • The treatment is a liver transplant
  • It manifests in childhood, between 4-8 years old
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is Refsum Disease

  • What pathway is affected?
  • What is the treatment?
A
  • Phytanic acid storage disease whereby phytanic acid that is produced by gut bacteria from phytol (component of chlorphyll) cannot be broken down to propionyl coA (odd chain FA) and further metabolized so phytanic acid accumulates
  • Dietary - only eat meat, fish, dairy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What neurological symptoms are associated with Vitamin B12 deficiency?

A

Tingling and burning in extremeties b/c Vit B 12 is needed to ensure proper myelination of neurons especially those involved in proprioception, so w/o enough B12 nerves will be damaged

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Classical Homocystinuria

  • Deficiency in what enzyme/ which pathway affected directly?
  • What pathway(s) is affected indirectly?
  • How common is this disease?
  • Inheritance?
  • Symptoms
A
  • Cystathionine Beta-Synthase –> synthesis of cysteine from homocysteine is impacted
  • SAM synthesis –> accumulation of homocysteine may impact flux through SAM pathway
  • Rare
  • Autosomal recessive
  • Homocysteine in blood and urine, developmental delayes, osteoporosis and several others
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Maple Syrup Urine Disease

  • Maple syrup urine disease is characterized by a defect in what enzyme?
  • When does this disease present?
  • How does it present?
  • What would be high in the serum with this disease?
  • What would be low in the serum with this disease?
A
  • Branched chain alpha keto acid dehydrogenase
  • Within 48 hours of birth
  • Irritability, poor feeding, vomiting, urine that smells sweet
  • Leucine, Isoleucine, valine
  • Alanine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How can hyerammonemia be treated using conjugates that are administered to a patient (2)?

A

1) In the body: ammonia can be added to glycolytic intermediate to make glycine

Drug: benzoate given –> combines with glycine to be excreted safely

2) In the body: ammonia can be added to glutamate to make glutamine

Drug: Pehnylacetate given –> combines with glutamine to be excreted safely

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

PKU is a defect in which enzyme?

A

Phenylalanine hydroxylase, which is needed to make tyrosine from Phe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

PKU Defects

  • Patients with this defect present with ___?
  • What is the treatment for PKU?
  • What is a clinical sign of PKU?
A
  • Hyperphenylalaninemia and phenylketonuria
  • Phe restricted diet
  • Musty smelling urine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Alkaptonuria is a defect in the breakdown of ______. The result is a build up of ______.

A

Tyrosine

Homogenistic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What happens to the urine and bones in alkoptonuria?

A
  • Urine turns black upon standing
  • Build up of homogentisate results in polymerization and formation of dark pigment that is deposited in cartilage and turns joints black
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Deficiency in which enzyme results in Lesch-Nyhan syndrome?

A

Hypoxanthine-guanine phosphoribosyltrasferase (HGPRT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How is Lesch-Nyhan inherited?

A

X-linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does a person with Lesch-Nyhan present?

A

Self mutilation behaviors

Mild intellectual disability

Hyperuricemia (high uric acid in blood, caused by purine breakdown and increased purine synthesis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What condition would arise if a person were deficient in either DAF (CD55) or CD59?

A

They would have RBC lysis because they would be unable to properly regulate complement activity in erythrocytes, which would lead to recurrent bouts of hemolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

C1 INH Deficiency

  • What builds up in this condition?
  • How do patients present / why?
A
  • Fragments of C3, C4 and C2
  • With severe inflammation (edema, pain, diarrhea, life threatening airway obstruction) b/c C3a, C4a and C2b all lead to inflammation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Smith-Lemli Opitz Syndrome?

A

Syndrome with multiple malformations and mental disability associated with defective cholesterol biosynthesis due to defective enzyme in final step of cholesterol synthesis pathway

17
Q

Congenital Adrenal Hyperplasia

  • Occurs due to defects in which enzymes?
  • What is the impact on steroid synthesis?
  • What impact would this have on sex determination?
A
  • 21 Hydroxylase and 11 Beta hydroxylase
  • The individual cannot produce mineralocorticoids so there is no feedback inhibition of ACTH secretion in the pituitary so ACTH is constantly secreted resulting in enlarged adrenal glands.
  • The steroid percursors are pushed toward production of androgens leading to virilization of females (development of male sexual characteristics)
18
Q

Finasteride and Dutasteride are ________ inhibitors that are prescribed to treat _______. They also treat ______ off label.

A

5-alpha reductase (converts testosterone to DHT)

Benign prostatic hyperplasia

Male pattern baldness

19
Q

What is the Philadelphia Chromosome?

A

Robertsonian reciprocal translocation between chromosome 9 at the ABL gene and chromosome 22 at the BCR gene that results in constitutively active tyrosine kinase due to fusion protein (BCR-ABL)

20
Q

Chronic Phase of CML

  • What cell type is overproduced in this phase?
  • Are cells able to differentiate in this phase?
A
  • Granulocytes
  • Yes
21
Q

Blast Crisis Phase of CML

  • What causes progression to this stage?
  • What occurs in this phase that results in cancer?
  • How does differentiation potential change in this phase?
A
  • Additional rearragements of the genome (new mutations)
  • Loss of tumor suppressors (p53, pRb, etc.)
  • Additional mutations that lead to less differentiated highly proliferative cells and more aggressive disease
22
Q

How does imatinib treat CML?

A

It inhibits the activity of the ABL kinase, so it reduces the activity of the fusion protein. The cancer cells are so dependent on the activity of this fusion protein that blocking its activity results in apoptosis of BCR-ABL positive cells.

23
Q

Epstein Barr virus is associated with _________

A

Burkitt Lymphoma

24
Q

Burkitt Lymphoma is associated with translocation involving what gene?

A

myc gene on chromosome 8 is fused to the heavy chain immunoglobin locus on chromosome 14

25
Q

Mantle cell lymphoma targets the _____ gene

A

Cyclin D

translocation between cyclin D locus on chromo 11 and Ig heavy chain gene enhancer region on chromo 14

26
Q

What translocation leads to follicular lymphoma (B-cell Lymphoma 2)

A

Places Ig heavy chain gene enhancer (chromo 14) into BLC2 locus on chromosome 18

FOS 2 (44 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions