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Pathophys > Genetic Disease > Flashcards

Genetic Disease Flashcards

1
Q

What are karyotypes and how many autosomes do humans have?

A

karyotypes = complete visual set of chromosomes

22 autosomes
(1 sex chromosome)

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2
Q

Describe gene penetration

A

frequency of expression of a gene (can relate to characteristics or diseases)

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3
Q

7 out of 10 patients have OI w reduced bone density, what percent penetrance is that?

A

7 out of 10 = 70% penetrance

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4
Q

What is it called when every generation has some aspect of a disease?

A

fully penetrant

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5
Q

What is it called when not every individual shows the same characteristics?

A

variable expressivity

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6
Q

T/F congenital anomalies are defects in single gene disorders, chromosomal anomalies, or multi-factorial disorders

A

TRUE

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7
Q

What changes occur in single gene disorders?

A

change in gene in ovum or sperm or changes in body cells

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8
Q

What disease is congenital but signs appear in adulthood?

A

Huntington’s disease

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9
Q

How do chromosomal anomalies occur?

A

errors in meiosis (deletions or translocations)

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10
Q

Explain Trisomy 21 and what it causes:

A

3 chromosomes at position 21 instead of 2
Down’s syndrome

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11
Q

Low levels of ____ in mother’s causes spina bifida

A

folic acid

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12
Q

In order to decrease spina bifida in live births, what was added to a food product?

A

Folate in flour (in the UK)

Similar ex: salt was iodized for iron deficiency in America

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13
Q

What happens when a baby has spina bifida?

A

spinal processes don’t fuse causing spinal cord and meninges to herniate

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14
Q

Teratogenic agents cause damage to what? Give an example:

A

damage to DNA in embryo/fetal stage

teratogenic agent ex = Thalidomide

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15
Q

Why was Thalidomide developed and why did pregnant mothers take it?

A

to help soldiers sleep anxiety after WW2

husbands gave it to pregnant wives to help them sleep and discovered it “resolved” morning sickness

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16
Q

What is phocomelia?

A

malformation of limbs or missing limbs

Seen with Thalidomide drug use

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17
Q

What does it mean if a drug is used “off label”?

A

use of a drug for condition other than what it was approved of.

FDA regulation = Dr. Francis Kelsey

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18
Q

What are multifactorial illnesses and give two examples:

A

genetic + environmental
hard to treat

ex:
breast cancer
atherosclerosis

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19
Q

Single gene disorder occurs in how many live births?

A

1 in 200

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20
Q

What are some single gene disorder examples?

A

color blindness, Marfan syndrome, CF, etc.

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21
Q

Describe Marfan syndrome:

A

skeletal deformities
pectus carinatum “pigeon chest”
long digits
long wing span

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22
Q

T/F both parents have to be a carrier of an autosomal recessive disorder

A

TRUE
(child = homozygous for gene)

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23
Q

What does PKU stand for and what’s another name for it?

A

phenylketonuria
(aka hyperphenylalaninemia)

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24
Q

Hyperphenylalaninemia is a deficiency in what?

A

phenylalanine hydroxylase

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25
Q

Phenylalanine converts to what (with the help of an enzyme)?

A

tyrosine

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26
Q

If phenylalanine can’t convert to tyrosine, what happens?

A

Accumulation of phenylalanine = PKU (phenylketonuria)

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27
Q

What is a normal level of phenylalanine?

A

0.06 - 0.1 mol/L of blood

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28
Q

T/F inherited mental deficiency is an effect of PKU

A

TRUE

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29
Q

What population is PKU most prevalent in?

A

Yemenite jews 1:5000

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30
Q

When should you screen newborns for PKU?

A

1-3 days after birth

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31
Q

List four sx of PKU:

A

growth retardation
mental deficiency
eczema (idiopathic)
recurrent seizures

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32
Q

When should you start treatment if a pt has PKU?

A

start before 3 weeks of age

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33
Q

What is the main treatment for PKU?

A

Low phenylalanine diet INDEFINITELY

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34
Q

What level of phenylalanine is seen in pt’s with PKU?

A

1 mol/cc of blood

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35
Q

A fetus can not be exposed to how many mmol of phenylalanine?

A

no more than 0.36 mmol of phenylalanine

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36
Q

What happens to a fetus that has been exposed to high levels of phenylalanine?

A

microcephaly, growth retardation, congenital heart disease

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37
Q

List 3 metabolic reasons for why tyrosine is important:

A

gluconeogenesis
protein synthesis
melanin catecholamines

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38
Q

Pt’s with PKU have a decrease in melanin catecholamines, what does this cause?

A

hypopigmentation

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39
Q

Pt’s with PKU cannot synthesize tyrosine from phenylalanine bc of a severe deficiency of the hepatic enzyme phenylalanine hydroxylase, what does this cause?

A

decreased protein synthesis
decreased gluconeogenesis
hypopigmentation

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40
Q

Why do pt’s with PKU have neurologic problems?

A

increased phe inhibits transport of neural a.a. across BBB
deficiency of a.a. in csf = neurologic problems

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41
Q

In autosomal dominant disorders, babies will be affected if they have how many alleles?

A

only ONE allele

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42
Q

Name 3 autosomal dominant disorders:

A

Osteogenesis imperfecta
Huntington’s disease
Marfan syndrome

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43
Q

In OI, what percent of cases occur due to a problem with the COL1A1 and COL1A2 genes?

A

90% of cases

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44
Q

What genes do you need to synthesize subunits of type 1 collagen?

A

COL1A1 & COL1A2

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45
Q

What is the only collagen found in bone?

A

type 1 collagen

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46
Q

Where is type 1 collagen found?

A
  • bone
  • dermis of skin
  • connective tissue capsules of most organs
  • adventitia of GI tract
  • blood vessels
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47
Q

Type 1 collagen is made up of how many strands/what are they?

A

3 strands:
- 2 strands are alpha 1 strands encoded by COL1A1 gene
- 1 strand is alpha 2 encoded by COL1A2 gene

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48
Q

What forms the triple helix in type 1 collagen that strengthens bone?

A

The 3 strands:
-2 strands of alpha 1 encoded by COL1A1
- 1 stand of alpha 2 encoded by COL1A2

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49
Q

Name the 4 types of osteogenesis imperfecta

A

type 1 - mild
type 2 - perinatal lethal
type 3 - progressive deformity
type 4 - deforming w normal scleras

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50
Q

Type 1 OI is caused by…

A

a decrease in type 1 collagen due to a single base pair change (aka premature stop codon, also known as nonsense mutation)

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51
Q

What is another name for a premature stop codon?

A

nonsense mutation

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52
Q

Name 1 sx all pt’s with osteogenesis imperfecta have no matter the type?

A

hearing loss due to ossicles and cochlea

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53
Q

List the characteristics of type 1 OI:

A
  • fx in childhood
  • blue scleras
  • short stature
  • dentinogenesis imperfecta (dysplasia)
  • hearing loss
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54
Q

Type 2 OI is caused by…

A

abnormal forms of type 1 collagen w decreased triple helix formation

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55
Q

List the characteristics of type 2 OI:

A
  • babies have fx in uterus
  • x-ray shows beaded ribs
  • die in infancy
  • hearing loss
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56
Q

Which type of OI is considered lethal?

A

type 2 (babies die in infancy)

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57
Q

Type 3 and 4 OI is caused by…

A

deletion in COL1A1 & COL1A2 genes + problems w non-helical part of collagen

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58
Q

List the characteristics of type 3 OI:

A
  • multiple boney deformities
  • continuous fx throughout lifetime
  • eventually become non ambulatory
  • blue scleras
  • dentinogenesis imperfecta
  • hearing loss
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59
Q

List the characteristics of type 4 OI:

A
  • short stature
  • more fx than type 1
  • not as many boney deformities as type 3
  • normal or gray scleras
  • hearing loss
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60
Q

T/F type 1 OI causes more fx than type 4:

A

FALSE - type 4 OI causes more fx than type 1

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61
Q

T/F type 3 OI causes more boney deformities than type 4:

A

TRUE - type 4 doesn’t have as many boney deformities as type 3

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62
Q

Name an x-linked dominant disorder:

A

Fragile X Syndrome

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63
Q

What disorder is the most common cause of mental deficiency and learning disorders in the US?

A

Fragile X Syndrome

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64
Q

What causes Fragile X Syndrome?

A

X chromosome has indentation, which causes decrease in condensation

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65
Q

How many boys and girls are affected by Fragile X Syndrome?

A

1:1500 boys
1:8000 girls

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66
Q

Why are boys more affected by Fragile X Syndrome than girls?

A

boys only have 1 X chromosome, which is mutated, compared to girls who have two X chromosomes

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67
Q

Who is the primary carrier of the FXS gene?

A

Females will always be carriers because they have a normal X chromosome

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68
Q

Name 2 X-linked recessive genetic disorders, that are inherited through a genetic defect on an X chromosome and manifested in heterozygous males:

A

Duchenne’s Muscular Dystrophy & Hemophilia

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69
Q

In FXS, 20% of male carriers do not manifest the disease. Why?

A
  • a triplet that repeats itself (CGG)
  • if male has 60-200 repeats, disease is not manifested (unknown why)
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70
Q

In boys with FXS, development slows down in what age?

A

1-2 years old

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71
Q

Boys who have FXS display what clinical characteristics?

A
  • large testes
  • changes in facial features in adolescence
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72
Q

Why do girls with FXS have mild mental deficiency?

A

because they have one normal X chromosome

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73
Q

What are three chromosomal disorder examples?

A
  • Turner syndrome (monosomy X)
  • Klinefelter’s syndrome (polysomy X)
  • Down’s syndrome (trisomy)
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74
Q

What is a characteristic in girls with Turner syndrome and how many chromosomes do they have?

A

no ovaries, physical deformities
45 chromosomes (only 1 X chromosome)

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75
Q

What is a characteristic in boys with Klinefelter’s syndrome and how many chromosomes do they have?

A

small testes (don’t produce sperm)
47 chromosomes (2 X chromosomes)

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76
Q

What is the most common chromosomal disorder and explain its chromosomal anomaly?

A

Trisomy 21 - 3 chromosomes at location 21 (47 chromosomes)

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77
Q

Down’s syndrome is characterized by 3 primary symptoms, what are they?

A

growth retardation
immunodeficiency
mental deficiency

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78
Q

Down’s syndrome presents in how many live births and accounts for how many mental deficiencies?

A

1 in 700 live births
1/3 of all mental deficiencies

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79
Q

The prevalence of down’s syndrome increases with what?

A

maternal age

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80
Q

What test can detect Down’s syndrome in the uterus?

A

amniocentesis

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81
Q

What are the three theories of Down’s syndrome?

A

egg degeneration
environmental factors
paternal age

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82
Q

List several characteristic that children with DS have:

A
  • developmental delay**
  • small heads**
  • growth retardation**
  • slanted eyes w brushfield spots**
  • small hands w deep palmar crease**
  • hypotonic muscles**
  • loose joints
  • short stature
  • wide space between 1st (hallux) and 2nd toes**
  • delayed/incomplete sexual development**
  • short 5th finger**
  • small ears
  • flat occiput**
  • tendency to develop cataracts
  • mouths hang open w protruding tongues (thicker)
  • hearing problems
  • cardiac problems
  • ECD (endocardial fusion defect)
  • Alzheimer’s when older
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83
Q

What is another name for slanted eyes?

A

mongolism

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84
Q

Why are brush field spots often seen in DS?

A

connective tissue laid down in iris

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85
Q

What is endocardial cushion defect?

A

wall between chambers of heart are thin

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86
Q

What are the two main branches of the immune system?

A

non-specific (innate)
specific (acquired)

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87
Q

What is the non-specific immune system composed of?

A

physical barriers, cellular barriers, and complement

Cellular= phagocytes, macrophages, lymphocytes, and WBCs

WBCs (granulocytes)= basophils, neutrophils, eosinophils

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88
Q

What is the specific immune system composed of?

A

B cells (antibodies) and t-cell mediated immunity

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89
Q

Name 2 passive barriers and their purpose:

A

physical and chemical barriers
= 1st line of defense

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90
Q

What are the 5 physical & chemical barriers?

A
  1. skin
  2. sebaceous glands
  3. tears
  4. gastric juices
  5. mucus membranes
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91
Q

Describe the function of the skin as a passive barrier:

A

effective barrier bc of keratin in epithelium

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92
Q

Describe the function of sebaceous glands as a passive barrier:

A

inhibit bacterial growth through the release of fatty acids

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93
Q

Describe the function of tears as a passive barrier:

A

contains the enzyme lysozyme that kills bacteria

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94
Q

Describe the function of gastric juices as a passive barrier:

A

juices are acidic and help kill bacteria

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95
Q

Describe the function of the mucous membranes as a passive barrier:

A

lines airways & traps microorganisms

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96
Q

If physical barriers of the immune system are breached, which cells take over?

A

macrophages
phagocytes
lymphocytes
granulocytes (WBCs- neutrophils, basophils, eosinophils)

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97
Q

What are the three types of granulocytes?

A

basophils
neutrophils
eosinophils

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98
Q

What are complement proteins?

A

a family of 25+ inactive plasma proteins produced by the liver activated in a cascade system by 2 different pathways

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99
Q

Complement proteins activate a cascade system of 2 different pathways, what are they?

A

classical & alternative

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100
Q

The classical pathway of complement proteins are activated by what?

A

immune complexes (when antibody combines w antigen)

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101
Q

What are the most common antibodies in the immune complex of the classical pathway of complement proteins?

A

IgG & IgM (stimulate complement)

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102
Q

Which two antibodies simulate the classical pathway in complement proteins?

A

IgG & IgM

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103
Q

The immune complexes in the classical pathway activate what complement protein?

A

C1q

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104
Q

After the immune complexes bind to C1q in the classical pathway of complement proteins, ___ ___ is activated:

A

C3 convertase

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105
Q

The alternative pathway of complement proteins are activated by what?

A

bacterial endotoxins & fungal surfaces

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106
Q

T/F the alternative pathway of complement proteins doesn’t need an immune complex to be activated

A

TRUE

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107
Q

C proteins act as opsonins for the purpose of what?

A

opsonins coat pathogens to recognize phagocytes, this helps attract leukocytes

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108
Q

C3 convertase cleaves into C3a and C3b to start what pathway?

A

common pathway

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109
Q

How does the common pathway of C proteins start?

A

when C3 convertase cleaves into C3a and C3b

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110
Q

C proteins can cause what two types of cells to degranulate and stimulate inflammation?

A

mast cells and basophils

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111
Q

Some C proteins come together and form MAC. What is a “MAC” and which C proteins are involved?

A

MAC = membrane attack complex
C proteins that form MAC = C5b, C6, C7, C8, C9

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112
Q

What is the function of a membrane attack complex (MAC)?

A

to attack membranes of pathogenesis and punch holes in them causing water to get in and lyse the cell

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113
Q

Acute phase proteins are what type of proteins?

A

plasma proteins produced by the liver

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114
Q

What cells are inadequate without T cells and produce antibodies?

A

B cells (inadequate without T cells & produce antibodies when activated)

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115
Q

Name the 4 kinds of inflammation in the non-specific system:

A

edema
erythema
localized warmth
localized pain

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116
Q

What are the two types of T cells?

A

T cytotoxic (CD8) & T helper cells (CD4)

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117
Q

What T helper cell is targeted by HIV causing HIV+ patients to lose 2/3 of their immunity?

A

CD4

118
Q

What is another name for cytotoxic T cells?

A

CD8 cells

119
Q

What proteins act as opsonins, enhance the inflammatory system, and act as antiprotease molecules?

A

acute phase proteins (aka plasma proteins)

120
Q

T/F plasma protein production is decreased during the acute phase of injury or invasion by a pathogen?

A

FALSE production is increased

121
Q

What autoimmune disease can occur if acute phase proteins don’t decrease?

A

Rheumatoid arthritis (huge levels of inflammation)

122
Q

What is CRP and when do you check it?

A

C-reactive protein (a type of acute phase protein)
Check CRP for pt’s you suspect w arthritis

123
Q

Increased CRP can increase the risk of what?

A

heart disease

124
Q

Describe the mechanism of inflammation:

A
  • inflammation attracts immune cells
  • sets stage for area to become repaired
  • provides barrier to spread and promote tissue repair
125
Q

What activates complement?

A

invading pathogens

126
Q

In inflammation, mast cells will degranulate and release what?

A

histamine

127
Q

T/F mast cells increase capillary permeability:

A

TRUE (they’re a vasodilator)

128
Q

Increased permeability causes ____ to get out of blood vessels, which causes erythema, vasodilation, and warmth?

A

leukocytes

129
Q

Macrophages need what to digest and phagocytize bacteria?

A

can’t recognize w/o capsules
(need an opsonin to phagocytize)

130
Q

The specific system is also called what system?

A

adaptive or acquired

131
Q

T/F the specific system has memory:

A

TRUE

132
Q

The specific system contains what two types of cells?

A

T cells + B cells

133
Q

What differentiates into plasma cells and recreates antibodies?

A

B lymphocytes

134
Q

What are the 5 classes of antibodies?

A

M - IgM
A - IgA
D - IgD
G - IgG
E - IgE

135
Q

How many antibody chains are there and describe the basic structure of an antibody?

A
  • 2 identical light chains
  • 2 identical heavy chains (Y)

Y structure is basic structure of antibody
1 Y structure = 2 binding sites

136
Q

An antigen binding site is called a what?

A

Fab

137
Q

What antibody is the most abundant with the longest half life?

A

IgG

138
Q

Which antibody is small enough to cross the placenta?

A

IgG

139
Q

Which antibody binds to mast cells and basophils?

A

IgE

140
Q

Which antibody binds on immature B cells?

A

IgD

141
Q

Which antibody is a pentamer and is the first produced in an immune response?

A

IgM

142
Q

Which antibody has 10 binding sites and can stimulate complement the most?

A

IgM

143
Q

Which antibody is a loner in serum but a dimer in secretions?

A

IgA

144
Q

Which antibody is found in tears, saliva, semen, bile, and, colostrum

A

IgA

145
Q

What is colostrum?

A

mom’s first milk

146
Q

What is a dimer?

A

2 Y’s together

147
Q

What do T helper cells do?

A

secrete cytokines

148
Q

What do cytotoxic T cells do

A

secrete cytotoxic substances

149
Q

What is the ratio of T helper to cytotoxic T cells?

A

2:1 (more T helper cells)

150
Q

What are the functions of T cells?

A
  • respond to tumor cells
  • bind to viruses
  • respond to piece of antigen presented by another cell
151
Q

Cells that are being “presented” are called what?

A

APCs (antigen presenting cells)

152
Q

What are TCRs and what are their accessory molecules?

A

TCRs = T-cell receptors
accessory molecules = CD4 & CD8

153
Q

How do you know if a cell is a T helper cell?

A
  • has a CD4 receptor
  • secretes cytokines
154
Q

What are the 3 cytokines that T helper cells secrete?

A
  1. IFNY (interferon gamma)
  2. ILs (interleukins)
  3. CSF (colony stimulating factors)
155
Q

What does the cytokine interferon gamma (IFNY) do?

A
  • helps B cells proliferate quicker
  • activates macrophages
  • activates NK cells (natural killer cells)
156
Q

What do interleukins (ILs) cytokines do?

A

help B cells produce antibodies faster

157
Q

What is the function of colony stimulating factor (CSF) cytokines?

A

stimulating productions of all WBCs

158
Q

What are the 2 subtypes of T helper cells?

A

Helper cell 1 & Helper cell 2

159
Q

How do you differentiate between helper cell 1 and helper cell 2 in T cells?

A

dependent on the cytokines they are releasing

160
Q

When T helper cells bind to APCs what receptor must they have?

A

MHC class II receptor

161
Q

T helper cells & CD4 molecules only recognize what MHC class?

A

class II MHC

162
Q

Cytotoxic T cells & CD8 molecules only recognize what MHC class?

A

class I MHC

163
Q

Cytotoxic T cells produce cytotoxic substances called what?

A

perforins

164
Q

What do perforins do?

A

perforate pathogens + produce granzymes (digestive enzymes)

165
Q

T/F both B cells and T cells produce memory cells

A

TRUE

166
Q

B cells recognize antigens on follicular dendritic cells in _____ centers?

A

germinal centers

167
Q

What do interferons do?

A

activate macrophages & produce NK cells

168
Q

Describe the primary immune system:

A

reaction of immune system when it contacts antigen for first time

169
Q

Y/N Does the primary immune system have a lag phase?

A

YES

170
Q

In the primary immune system, IgM peaks when?

A

after a week

171
Q

In the primary immune system, IgG peaks when?

A

after 2 weeks

172
Q

Describe the secondary immune system:

A

reaction of immune system when it contact antigen for second + subsequent times

173
Q

Y/N Does the secondary immune system have a lag phase?

A

NO - instanty produces antibodies (immediate response)

174
Q

Acquired immunity can be passive or active, describe ‘natural passive’ and give examples:

A

antibodies are given

ex:
- mother to fetus across placenta
- mother’s milk
doesn’t make memory cells

175
Q

Does baby make memory cells from mother?

A

no

176
Q

Acquired immunity can be passive or active, describe ‘artificial passive’ and give examples:

A

antibodies are given

ex:
snake bite / rusty nail
doesn’t make memory cells

177
Q

Acquired immunity can be passive or active, describe ‘natural active’ and give examples:

A

you are making antibodies

ex:
chicken pox / cold/flu

178
Q

Acquired immunity can be passive or active, describe ‘artificial active’ and give examples:

A

pathogen is given

ex:
vaccines

179
Q

What are hypersensitivity reactions and how are they classified?

A
  • when immune system results in pathological changes in the host tissue
  • classified by Gell & Coombs (4 types)
180
Q

What are the 4 types of hypersensitivity?

A

Type I Immediate
Type II Cytotoxic
Type III Immune Complex-Mediated
Type IV Cell-Mediated or Delayed

181
Q

What antibody is type I rxns mediate by and what happens?

A

IgE is released and binds to mast cells in response to harmless stuff (ex: pollen, animal dander)

182
Q

List 3 rxns that can happen in type I hypersensitivity

A
  1. allergies
  2. food
  3. anaphylaxis
183
Q

What causes an allergic response?

A

allergens

184
Q

Explain the mechanism of subsequent allergen exposures:

A
  • allergen binds to IgE on mast cells
  • mast cells degranulate
  • degranulation releases histamines
  • vasodilation occurs
  • inc. capillary permeability
185
Q

When histamines, a vasodilator, are released capillary permeability is increased. What does this cause?

A
  • edema
  • erythema
  • pruritus (close to nerve endings)
  • bronchoconstrictor
186
Q

If mast cells are present in nasal mucosa what does this cause?

A

allergic rhinitis (hay fever)

187
Q

If mast cells are present in the lungs what does this cause?

A

asthma

188
Q

What is the treatment for allergies?

A

antihistamines

189
Q

List the manifestations of allergic rhinitis:

A
  • paroxysmal sneezing (uncontrollable)
  • pruritis
  • mucus hyper secretion (nasal congestion)
190
Q

What is the treatment for mucus hypersecretion?

A

decongestant

191
Q

In children with allergies you’ll see periorbital edema. What is this in layman’s terms?

A

allergic shiners

192
Q

What are the complications of allergic rhinitis?

A

sinusitis & otitis media

193
Q

In pt’s with food allergies, where are histamines released and what is usually seen on their skin after a reaction occurs?

A
  • mast cells release histamines in GI tract
  • large erythematous plaques
194
Q

What sx do pt’s with food allergens present with?

A

nausea, vomiting, diarrhea

195
Q

What type of reaction is an anaphylaxis?

A

systemic

196
Q

How do you treat anaphylaxis?

A

EpiPen

197
Q

What happens in the body of a pt experiencing anaphylaxis?

A
  • decreased BP (blood vessels vasodilate)
  • trouble breathing (bronchodilator)
198
Q

What is the most common cause of anaphylaxis?

A

insect bites

199
Q

If a pt has a severe reaction to local anesthesia, what should you do?

A

give epinephrine (vasoconstrictor + bronchodilator)

200
Q

What happens in type II cytotoxic hypersensitivity reactions?

A

IgG or IgM binds to antigens in cell membranes that activate complement

201
Q

Give an example of type II cytotoxic hypersensitivity:

A

incompatible blood transfusion

202
Q

How is type III immune complex hypersensitivity reactions mediated?

A

mediated by the formation of antigen-antibody aggregates called immune complexes

203
Q

What happens if the immune complexes in type III hypersensitivity is not phagocytized quickly?

A

immune complexes will accumulate in blood vessels and cause a delayed reaction

204
Q

Complement comes in to destroy immune complexes after a delayed reaction in type III hypersensitivity. What does this do to blood vessels and surround tissue?

A

destroys them causing vasculitis

205
Q

Give an example of type III immune complex-mediated hypersensitivity and explain what happens when this occurs:

A

glomerulonephritis = vasculitis = destroyed capillaries of kidneys

206
Q

In type IV cell-mediated or delayed hypersensitivity reactions, T cells are activated by _____ and release _____ resulting in inflammation and tissue damage

A

antigens, cytokines

207
Q

Give an example of type IV cell-mediated or delayed hypersensitivity:

A

latex gloves, poison ivy, TB test

208
Q

What is the treatment for type IV hypersensitivity? (hint: latex gloves, poison ivy, TB test)

A

corticosteroids

209
Q

What is happening in the body in autoimmune diseases?

A

the body can’t differentiate self-antigens from non-self antigens

210
Q

Some autoimmune disease are caused by ______ that destroy tissue while some are caused by ____ that attack tissue

A
  • autoantibodies (destroy tissue)
  • T cells (attack tissue)
211
Q

Give an example of two autoimmune diseases caused by autoantibodies destroying tissue:

A
  • myasthenia gravis
  • hyperthyroidism (Graves’ disease)
212
Q

Give an example of an autoimmune diseases caused by T cells attacking tissues:

A

multiple sclerosis (MS)

213
Q

What is SLE (systemic lupus erythematosus) and what are its sx?

A

chromic, inflammatory illness affecting multiple systems

sx:
- rash across cheeks & nose “butterfly rash”
- severe ply arthritis
- renal failure (from glomerulonephritis)
- carditis / pericarditis
- anemia
- pleurisy

214
Q

Why do patients with SLE have severe joint pain?

A

pain is caused from inflammation due to deficiency in complement proteins to clear the immune complexes

215
Q

The deficiency in complement proteins in pt’s with SLE causes blood cells to be destroyed. What does this lead to and what does it affect?

A
  • leads to vasculitis, ischemia, necrosis
  • affects kidneys, lungs, GI tract, joints
216
Q

How do you diagnose a pt who you suspect has lupus?

A
  • ANA test (antinuclear antibodies in serum = autoimmune rxn)
  • LE cell test = lupus erythematosus cell = neutrophil w nuclear material
  • Sed rate test (inc. sed rate = chronic inflammation)
217
Q

What specialist should you refer a pt with lupus to?

A

rheumatologist

218
Q

What is the treatment for pt’s with lupus?

A
  • prednisone
  • NSAIDS
  • antimalarials (hydrochloroquine - Plaquenil)
  • immunosuppressive (methotrexate = Rheumatrex)
219
Q

What is a milder form of lupus called?

A

discoid lupus erythematous (DLE)

220
Q

In the milder form of lupus (DLE) what organ does it affect and who is it more commonly present in?

A
  • only affects skin
  • more common in women (some men) ages 20-40 y/o
  • hispanic/ AA/ asian
221
Q

In lupus, the body develops antibodies against own what? (hint: considered anti-nuclear antibodies)

A

platelets, RBCs, DNA, & other nuclear material
(this is what ANA is testing)

222
Q

What is an immunodeficiency disorder?

A

partial or complete loss of fxn of immune system

223
Q

Immunodeficiency disorders can be ____ or ____, or ____ or ____

A

acute or chronic
primary or secondary

224
Q

Primary immunodeficiency disorders are ____ and cause a defect in what cells?

A
  • genetic
  • defect in phagocytic cells, complement, lymphocyte fxn
225
Q

Primary immunodeficiency disorders are found in children and cause what type of problems?

A

developmental problems

226
Q

List 3 primary immunodeficiency disorders:

A
  1. SCID
  2. DiGeorge syndrome
  3. X-linked agammaglobulinemia (XLA)
227
Q

What is SCID (severe combined immunodeficiency)?

A
  • near/ or complete lack of both immune systems
  • very little specific & non-specific
  • die by age 2 “bubble children”
228
Q

What is DiGeorge syndrome?

A

congenital thymic hypoplasia (thymus doesn’t develop)

229
Q

In DiGeorge syndrome, the thymus doesn’t develop. Why is this?

A

lack of T cells
(the thymus is where T cells mature)

230
Q

What is XLA (X-linked agammaglobulinemia)

A

inability to produce B cells or antibodies that make B cells

231
Q

Pt’s with XLA lack the antibody aspect of what immune system?

A

specific system

232
Q

What is the most common cause of secondary immunodeficiency disorders?

A

malnutrition

233
Q

What can cause secondary immunodeficiencies?

A
  • splenectomy
  • tumors
  • chemotherapy / radiation
  • immunosuppressive drugs
  • liver disease
  • long term use of prednisone
  • lymphoid atrophy
  • infection (HIV)
234
Q

What is the largest lymphoid organ?

A

spleen

235
Q

Immunodeficiencies predisposes a pt to what?

A

opportunistic infections

236
Q

T/F in immunodeficiencies, a pt’s own bacterial flora can take advantage and become opportunistic

A

TRUE

237
Q

What should you prescribe a pt with an immunodeficiency before any medical/dental procedure?

A

prophylactic abx
(this includes lupus pt’s who have been on prednisone for years!)

238
Q

What is AIDS (acquired immunodeficiency syndrome)?

A

a chronic disease caused by HIV that destroys T helper cells

239
Q

Describe the latent phase in AIDS

A

pt is HIV+ before developing AIDS
(may last many years - asymptomatic)

240
Q

The active infection phase of AIDS is indicated by what?

A

a low CD4 count

241
Q

What is HIV (human immunodeficiency virus)?

A

a group of retroviruses whose RNA encodes for 9 genes & is part of the lentivirus subfamily

242
Q

HIV-1 is most prominent where?

A

North America (NY + MIA) & Europe

243
Q

HIV-2 is most prominent where?

A

West Africa

244
Q

Why is HIV so hard to treat?

A
  • can mutate inside a person
  • tropism (coreceptor unique to each HIV strain)
245
Q

What two cells does HIV infect?

A
  • CD4 T helper cells
    (cell number + fxn decrease)
  • macrophages
    (affects microglial in brain)
246
Q

All HIV strains express what protein that binds to CD4 receptors?

A

gp120

247
Q

Describe the mechanism of HIV infection:

A
  • RNA strand enters cell
  • uses reverse transcriptase enzyme to convert RNA to viral DNA
  • Viral DNA binds to your DNA & tells T helper cells to make more of virus
248
Q

What is tropism?

A

coreceptor different for specific strains

249
Q

HIV antibodies peak at how many weeks?

A

2 weeks “lag phase”

250
Q

Why is HIV transmission from blood “better” than HIV transmission via sex?

A

infection via blood = body will immediately start producing antibodies

251
Q

A pt is diagnosed with aids when their CD4 count at what level?

A

<200 CD4 T helper cells/cc of blood
(ratio of 2:1 disappears)

252
Q

List the ways HIV can be transmitted:

A
  • blood
  • sexual
  • vaginal discharge
  • mom to fetus
  • IV drug use
  • mother’s milk
253
Q

What drug has decreased transmission from mother to fetus?

A

AZT (azidothymidine)

254
Q

If a baby is born with HIV antibodies, does this mean baby is HIV+?

A

No, usually baby will have no antibodies at 3-4 weeks
(if mother is HIV+ baby is put on antiretroviral when born)

255
Q

What are fomites?

A

inanimate objects

256
Q

At what degrees is HIV inactivated and for how long?

A

> 60 degrees C for 20 minutes

257
Q

How many stages of HIV are there?

A

3

258
Q

Describe stage 1 of HIV:

A

mild, flu-like sx (fever, sore throat)
(resolves w/o tx, no idea pt is HIV+)

259
Q

Describe stage 2 of HIV:

A

long, latent phase - maybe lymphadenopathy
(7-10 years)

260
Q

Describe stage 3 of HIV:

A

immune system is severely damaged
(AIDS + all complications)

261
Q

What are some effects of AIDS?

A
  • GI problems
  • necrotizing periodontal disease
  • encephalopathy
  • sensory, motor, & inflammatory polyneuropathies
  • death due to secondary infections
262
Q

A pt with AIDS may have diarrhea due to what?

A

infectious enterocolitis associated w CD4 lymphopenia & opportunistic infectious agents

263
Q

What is necrotizing periodontal disease?

A

tissue destruction of gums and bone

264
Q

HIV encephalopathy is an HIV associated neurocognitive disorder characterized by short term memory loss & personality changes. What can this develop into?

A

AIDS dementia characterized by loss of coordination & progressive memory loss
(due to infection of microglia)

265
Q

Pt’s with HIV may present with sensory, motor, & inflammatory polyneuropathies. These polyneuropathies are due to what?

A

axons of nerves are destroyed

266
Q

In AIDS, death due to secondary infection is most commonly due to what fungus which causes what life threatening infection?

A

pneumocystis jirovecii (fungus - spores in sputum)
causes SEVERE pneumonia

267
Q

List several secondary infections that pt’s w AIDS could die from?

A
  • pneumocystis jirovecii
  • herpes simplex
  • candida “thrush”
  • TB
  • cancer
268
Q

Pt’s w AIDS have a higher incidence of TB and cancer than pt’s w/o AIDS. What is the most common type of cancer found in pt’s w AIDS?

What is the second most common type of cancer?

A

most common = Kaposi’s sarcoma
second most common = Non-Hodgkin’s lymphoma

269
Q

Describe the presentation on Kaposi’s sarcoma and where does it develop?

A
  • purple-brown, painless, non-pruritic patches on skin
  • can occur in lungs, liver, & GI tract (chronic hemorrhaging
270
Q

What is the oldest HIV drug and what does it do?

A

AZT - blocks transcription

271
Q

What HIV medication blocks protein syntheses? Give two examples:

A

protease inhibitors
(Saquinavir & Ritonavir)

272
Q

What HIV medication inhibits viral DNA? Give an example:

A

viral integrase inhibitors
(Raltegravir)

273
Q

What HIV medication prevents fusion of HIV to body cells? Give an example:

A

fusion inhibitors
(Enfuvirtide)

274
Q

HIV pt’s are given a cocktail of medications called what? What do these medications do?

A
  • HAART (highly active antiretroviral therapy)
  • keep viral load low & keep pt in latent stage
275
Q

What are the 5 medications available for HIV treatment?

A
  1. AZT
  2. protease inhibitors
  3. viral integrase inhibitors
  4. entry inhibitors
  5. fusion inhibitors
276
Q

The recognition of processed antigen by specialized T lymphocytes known as what?

A

helper T (CD4) lymphocytes

277
Q

Helper T lymphocytes recognize processed antigen displayed by APCs only in association with polymorphic cell surface proteins called what?

A

major histocompatibility complex (MHC)

278
Q

What proteins participate in the co-presentation of processed peptide antigens to T cells, thereby facilitating the essential distinction of “self” from “non-self”?

A

human leukocyte antigens (HLAs)

279
Q

All somatic cells express MHC class I, whereas only the specialized APCs can express what?

A

MHC class II

280
Q

Granulocytes are the most common WBC. Which WBC is the most abundant?

A

neutrophils

281
Q

_____ contain very dark blue or purple granules when stained with either Giemsa or Wright stain:

A

basophils

282
Q

What kills bacteria that neutrophils ingest via endocytosis or phagocytosis?

A
  • myeloperoxidase
  • nicotinamide adenine dinucleotide phosphate (NADPH) oxidase
283
Q

_____ are the smallest formed elements in the blood:

A

platelets

284
Q

What are the types of single gene disorders?

A

Autosomal dominant, autosomal recessive, and x linked

285
Q

What are some autosomal recessive disorders?

A

CF, PKU, sickle cell disease, etc.

286
Q

What is an example of a complement protein that can opsonize?

A

C3b

287
Q

What is an example of a complement protein that attracts leukocytes?

A

C5a

288
Q

What happens if acute phase proteins don’t go away?

A

It will cause high levels of inflammation

Ex: RA

289
Q

What is function of acute phase proteins?

A

Liver proteins that act as opsonins and that enhance the inflammatory response

290
Q

Function of chemotaxins?

A

Molecules that attract phagocytes to a site of infection

Pathophys (6 decks)

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