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Human Disease > Finals part III > Flashcards

Finals part III Flashcards

1
Q

Hemophilia B

A
  • Fibrin not produced

- Missing factor IX of coagulation pathway

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2
Q

Hemophilia A

A
  • Fibrin not produced

- missing factor VIIIa of coagulation pathway

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3
Q

3 stages of coagulation

A

1) platelets attach to endothelium
2) platelets start to release fibrin and begin to seal endothelium
3) fibrin network traps RBSs and seals endothelium

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4
Q

Down syndrome

A

-caused by nondisjunction at chromosome 21 (HSA21q)

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5
Q

Down syndrome symptoms

A
  • slanted eyes
  • flattened nose
  • short neck
  • Alzheimer like symptoms in 75% of DS patients older than 60
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6
Q

Down syndrome treatment

A

Hedgehog agonist therapy shown to improve cognitive function in mice with DS

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7
Q

Hemophilia symptoms

A
  • x-linked recessive disease characterized by inability to properly form blood clots
  • bleeding into soft tissues, muscles, and weight bearing joints
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8
Q

Hemophilia treatment

A
  • liver transplantation
  • blood transfusion
  • standard treatment; replacement of deficient factor
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9
Q

FISH

A

labeling by incorporating nucleotide with attached fluorophore

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10
Q

GI Anthrax Symptoms

A
  • soar throat
  • headache
  • nausea
  • diarrhea
  • vomiting
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11
Q

Cutaneous Anthrax Symptoms

A

-sore, develops into raised bump and develops into painless ulcer with black center

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12
Q

Inhalation Anthrax Symptoms

A
  • Flu like symptoms
  • fever
  • cough
  • chest discomfort
  • vascular leakage
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13
Q

Von WIllebrand Disease

A
  • most common coagulation disorder
  • caused by deficiency/defect in VWF
  • VWF normally causes adhesion of platelets to subendothelial collagen, primarily through the glycoprotein Ib on platelets
  • affects 1-2% of US population
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14
Q

Cause of Anthrax

A
  • Bacteria; Bacillus Anthracis(gram+)

- two plasmids necessary for infectivity; PXO1 and PXO2

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15
Q

PXO1 plasmid codes for..

A

-Edema and Lethal Toxins

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16
Q

PXO2 codes for…

A

-Poly-D-Glutamic Acid encoding gene; important for protection

17
Q

Edema and Lethal Toxins

A
  • Must associate with protective antigen to get into cell
  • Edema toxin(activated by calmodulin) increase cAMP production
  • Lethal toxin cleaves MAPK which stops cell survival factor from being produced(more cell apoptosis)
18
Q

What protease activates Protective Antigen via cleavage?

A

Furin

19
Q

What cellular factor is required to activate Edema Factor?

A

Calmodulin

20
Q

Infarction

A

tissue death

21
Q

Myocardial Infarction

A

heart muscle death

22
Q

Ischemia

A

Depleted oxygen and nutrients(not cell death)

23
Q

Hypertrophic Cardiomyopathy

A

pathological overgrowth of heart muscle

24
Q

Cause of Heart Disease

A

multifactorial disease;

  • diet, exercise, genetics
  • misfolded protein in the enlarged heart
25
Q

Treatment for Heart Disease

A

-Gene therapy targeting Hrd1 gene;

codes for HMG-CoA reductase Degradation Protein 1; ER membrane protein that degrades misfolded proteins

26
Q

Cystic Fibrosis and symptoms

A

CF is an autosomal recessive disorder in caucasian population(CFTR gene on chromosome 7)

27
Q

Cystic Fibrosis Symptoms

A
  • mucus obstructed airways and bacterial infections
  • In GI system; blocked pancreatic ducts, decreased pancreatic enzymes, intestinal blockage, poor weight gain, pancreatitis
28
Q

Cause of Cystic Fibrosis

A

Mutation is CFTR gene; defective CFTR protein causes insufficient Cl- and HCO3- in extracellular environment, causing molecules to adhere to each other and remain condensed and viscous
-CFTR(dela)F508 most common mutant

29
Q

Treatment for Cystic Fibrosis

A

Therapy; clearance of pulmonary secretions, control of infection, pancreatic enzyme replacement, adequate nutrition, prevention of intestinal obstruction
Drugs; Pulnozyme(bronchodilator) and Hypertonic solution

30
Q

CFTR

A
  • a ATP dependent (cAMP activated) chloride channel
  • TMD1 and TMD2; transmembrane proteins
  • NBD1 and NBD2; nuclear binding domain
31
Q

CFTR(delta)F508 mutant

A
  • Protein does not fold properly, misfolded proteins get degraded in cytoplasm
  • ERAD; ER associated degradation
32
Q

Potential treatment for CFTR(delta)F508 mutant

A

Hrd1 allows misfolded proteins to get out into cytoplasm
-The mutant protein is an active protein that can facilitate Cl- transport to some degree if it is expressed in the membrane

33
Q

Cystic Fibrosis Treatment

A

Ivacaftor; makes inactive CFTR channels in people
Lumacaftor; restores CFTR function in people homozygous for F508del-CFTR, suppresses protein folding defects in F508del-CFTR

34
Q

Cholera Symptoms

A

-Severe Diarrhea, abdominal cramps, and vomiting

Human Disease (3 decks)

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