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Pathology > Exam II Review > Flashcards

Exam II Review Flashcards

1
Q

Define mutation

A

permanent change in the DNA of an organism

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2
Q

Define genomic mutation

A

Karyotypic change resulting in aneuploidy

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3
Q

Define chromosomal mutation

A

change in size, shape and structure of chromosomes

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4
Q

Define gene mutation

A

seen at the gene level only

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5
Q

Define point mutation

A

within coding sequence

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6
Q

Define deletion mutation

A

Deletion of NT’s

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7
Q

Define insertion mutation

A

Addition of NT’s

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8
Q

Define missense mutation

A

Point mutation resulting in a different AA

Sickle Cell

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9
Q

Define nonsense mutation

Example

A

early stop codon

Beta thalassemia

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10
Q

Define tri-nucleotide repeat

A

Repeat of 3 amino acid sequence

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11
Q

Define autosomal dominant

3 general characteristics

A 
Only need one allele to have phenotype
Reduced penetrance
Variable expressivity
Males and females
Spontaneous mutations can occur
Onset is delayed
Proteins and metabolic control points
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12
Q

Define autosomal recessive

2 general characteristics

A

Need two alleles to have disorder
Early onset
Enzymes
Usually complete penetrance

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13
Q

Define x-linked recessive

A

Need to have one mutant X allele in males and two in females.

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14
Q

Define x-linked dominant

One example?

A

Only need one X allele to have disorder

Vitamin D resistant rickets

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15
Q

Define codominant

One example?

A

two different gene alleles are fully expressed together

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16
Q 
Marfan's syndrome
Type of inheritance
Incidence
Chromosome involved
Protein involved
Three charcteristics of syndrome (MARFANS)
A

Autosomal dominant

Ch 15

Fibrillin

Mitral valve prolapse
Aortic aneurysm/Aortic valve incompetence
Retinal detachment
Fibrillin/Ch15
Arachnodactyly
Subluxulated lens
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17
Q 
Ehlers danlos
Type of inheritance:
Protein involved
Five characteristics of syndrome
"Fellers Damn Loose"
A

All 3
Collagen

Stretchable skin
Hypermobile joints
Really easily injured skin
Increased lines on palma

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18
Q 
Familial hypercholesterolemia
Type of inheritance
Incidence
Proteins/components involved
Two characteristics of syndrome
A

Autosomal Dominant
1 in 500 (MOST COMMON)
Defective LDL receptor

High blood cholesterol levels
Tendinous xanthomas

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19
Q 
Tay Sachs
Type of inheritance
Incidence or population at risk
Protein/components involved
Two characteristics of syndrome
A

Autosomal Recessive
Ashkenazi Jews
Hexosaminidase A –> Gangliosides

Cherry Red Spot on macula
Blindness
NO hepatosplenomegaly

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20
Q 
Gaucher
Type of inheritance
Incidence or population at risk
Protein/components involved
What types exist?
A

Autosomal Recessive
Eastern European Jews
Glucocerebrosidase
Type I(Phagocytes), Type II (Infantile), Type III (Intermediate)

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21
Q

Niemann-Pick
Type of inheritance
Protein/components involved
What types exist?

A

Autosomal recessive
Eastern European Jews (Type A&B)
NPC-1 gene –> Sphingomyelin
A (infantile), B, C (most common)

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22
Q

Mucopolysaccharidoses?
Most common type of inheritance
What form is X-linked recessive
Two general characteristics

A 
All AR
Except Hunter Syndrome
Coarse facial features
Clouding of corneas
joint stiffness
mental retardation
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23
Q

Glycogenoses (Viagara Pills Cause A Major Hard On)
What is hepatic type?
Muscle type?
Lysosomal type?

A

Hepatic: Type I – Von Gierke’s
Muscle: Type V – McArdle’s
Lysosomal: Type II – Pompe’s

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24
Q 
NF-1
Incidence
Chromosome involved
Protein involved and normal action
Three characteristics
A

1/3000
NF-1 gene on Chromosome 17q11
Neurofibromin - Tumor supressor

Neurofibromas
Cafe au lait macules
Lisch nodules

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25
Q 
NF-2
Incidence
Chromosome involved
Protein involved and normal action
Three characteristics
A 
10% of NF's
Ch 22
Merlin: Tumor suppressant
Neurofibromas, Bilateral acoustic neuromas
NO Lisch Nodules
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26
Q

Multifactorial disorders

Three examples?

A

Hypercholesterolemia
Hypertension
Height
Eye color

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27
Q 
Trisomy 21
Incidence
Age relationship
Types? 
Four characteristics
A

Mom’s increasing age increases risk

Nondisjunction 47 X? 21,
Robertsonian translocation (46, X?, der 14,21)
Mosaics (46X?, 47X? +21)

Endocardial cushion
Atresia of bowel
Risk for leukemias
Mental retardation, Alzheimer’s

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28
Q

Trisomy 18
Incidence
Four characteristics

A

1 in 8000

Rocker-bottom feet
Renal problems
CV problems
Facial abnormalities

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29
Q

Trisomy 13
Incidence
Four characteristics

A

1 in 15000

Polydactylyl
Rocker bottom feet
Facial problems
Renal/CV problems

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30
Q

Klinefelter syndrome
Types?
Four characteristics

A

47XXY, 48XXXY, 49 XXXXY
Additional X’s increase mental retardation

Gynecomastia
Hair distribution

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31
Q

Turner syndrome
Incidence
Four characteristics

A

45, XO

Webbing of neck
Cystic fibroma (lymphangioma)
Short
Broad chest (widely spaced nipples)
Pigmentation
Primary amenorrhea (1/3 of all)
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32
Q 
Triple repeat disorders
Example of X-linked R and AD forms
Define anticipation
Define sherman's paradox
Give three characteristics of Fragile X syndrome
A

Fragile X: X-linked
Huntington: AD (earlier onset)
Friedrich’s ataxia: AD
Myotonic dystrophy: AD

Anticipation: age of onset increases through generation

Sherman’s paradox: Your place in pedigree determines the risk of getting it

End of long arm of X is messed up
Hypergonadism

33
Q

Mitochondrial disorders

– Give one example

A

Leber Hereditary Optic Neuropathy

34
Q

Imprinting
– Explain this process
– Give two examples

A

Selective inactivation of either the
maternal or paternal allele

Paternal imprinting: Prader Willi
Maternal imprinting: AngelMan’s

35
Q 
Cystic fibrosis
– Incidence and race
– Chromosome involved
– Protein involved
– Most common and lethal mutation
– List three characteristics (CF PANCREAS)
A 
Whites: 1/2000, Blacks 1/15000 Rare in asians
Long arm Chr 7
CFTR: CF transmembrane conductance regulator
F-508
Chronic cough
Failure to Thrive
Pancreatic insufficiency
Alkalosis
Neonatal meconium ileus
Clubbing of fingers
Rectal prolapse
Electrolyte elevation
Absence of vas deferens
Staph or pseudomonas
36
Q

What is malformation?
Intrinsic or extrinsic problem?
What is etiology?
Example?

A

a

37
Q

What is a disruption?
Extrinsic or intrinsic?
What is etiology?
Example?

A

a

38
Q 
Deformations
Extrinsic or intrinsic?
What % of newborns?
What causes it? 
Most common cause?
Increased risk factors? (7)
A

a

39
Q

What is a sequence?
What is the initiating event?
Example?

A

a

40
Q

What is Potter sequence? 4

A

a

41
Q

What are malformation sequences?
What are they generally caused by?
Two examples

A

a

42
Q

What are transcervical/ascending infections?
What can they affect in terms of baby? (2)
Occur with what risk factors? (2)
What can it lead to? (3)
4 causes?

A

a

43
Q

Transparental infections are what?
Usual cause?
What are the five exmaples (TORCH)
Symptoms? (5)

A

a

44
Q

What is prematurity?
Risk factors? (4)
Complications? (3)

A

a

45
Q

Intrauterine growth retardation results in what?

A

a

46
Q

Fetal causes of interuterine growth retardation?

A

a

47
Q

Placental causes of intrauterine growth retardation?

A

a

48
Q

Maternal factors causing intrauterine growth retardation

A

a

49
Q

Risk factors for respiratory distress syndrome of newborn? (4)

A

a

50
Q

Basic defec tin respiratory distress syndrome?
What cell normally makes this?
What will increase production? (2)

A

a

51
Q

Survivors of respiratory distress syndrome may have what? (2)

A

a

52
Q 
What is necrotizing enterocolitis? 
Etiology? (2)
What aggravates? (2)
What parts of GI are affected? (3)
Effect on GI organs? (4)
Exam reveals what? (4)
A

a

53
Q

Infants with necrotizing enterocolitis develop what symptoms? (4
Treatment?
Healing can lead to what?

A

a

54
Q

SIDS is defined how?
How many cases a year?
90% are how old?
What can reduce risk?

A

a

55
Q

What is hydrops fetalis?

What causes it historically?

A

a

56
Q

What is most frequent cause of hydrops fetalis now?

Causes? (5)

A

a

57
Q

Hydrops fetalis care includes doing what? (4)

A

a

58
Q

3 indoor air pollution?

A

wood smoke: Nitrogen and carbon oxides

radon: Decay of urancium –> Broncho carcinomas
bioaerosols: bacteria, viruses, fungi, dander

59
Q

Organic compounds include? (4)

A

a

60
Q

Chloroform and CCL4 lead to what?

A

CNS symptoms –> Coma

61
Q

Polycyclic hydrocarbons do what?

A

Carcinogenic to lung and bladder

62
Q

Vinyl chloride causes what cancer

A

Hepatic angiosarcoma

63
Q

1,3-butadiene/rubber causes what?

A

leukemia

64
Q

3 bad metals

Cancer for each

A

arsenic: lung and skin carcinoma + hepatic angiosarcoma
chromium: Lung carcinoma
nickel: Lung carcinoma

65
Q

What are pneumoconioses

3 size ranges?

A

Non-neoplastic lung diseases induced by
inhaled organic and inorganic particulate
matter and fumes.

<1 um = reach alveoli and act like gases, without deposition or damage

66
Q

Coal workers lung/black lung has what in simple form?

A

Asymptomatic anthracosis

67
Q

Coal workers lung/black lung has what in complicated form?

A

progressive massive fibrosis

68
Q

What is caplan syndrome? (2)

Symptoms? 2

A

Rheumatoid arthritis and pneumoconiosis

  1. Coalescing nodules with central necrosis
  2. palisading macrophages, fibroblasts and plasma cells
69
Q

What is silicosis secondary to?
Which form is better, which is worse?
How many cases in US a year
Acute form results in what? (3)

A

inhaled silica

Crystalline forms more reactive than amorphous
forms

1500/year

respiratory
symptoms, interstitial inflammation and proteinaceous
fluid collections in alveolar sacs

70
Q

Chronic form of silicosis results in what forming?

A

Nodular form with fibrosis nodules in upper zones of

the lungs and in subpleural locations

71
Q

Complicated form results in what?

A

Progressive enlargement of nodules and destructions

of lung parenchyma (PMF)

72
Q

Silicosis has what two diseases increase due to it?

A

TB

Cancer

73
Q

Two major types of asbestos
Which is more common
Which causes mesotheliomas?

A

a

74
Q

Serpentine asbestos has asbestos in what form?

Why is it more common?

A

a

75
Q

Amphibole has what type of asbestos?

Why do they create damage?

A

a

76
Q

5 forms of asbestos

A

a

77
Q

What are asbestos bodies?

A

a

78
Q

What is berylliosis acute form?
Chronic form?
Who is at risk?

A

a

79
Q

Tobacco smoke has how many deaths?

What proportion is lung cancer

A

a

Pathology (36 decks)

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