Packet 3 (Quiz 2) Flashcards

1
Q

What are the 3 types of cells in normal growth cycles?

A

1) labile cells
2) stable cells
3) permanent cells

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2
Q

What are liable cells?

A

-cells that continue to proliferate throughout life
-continual cell replacement of the cells that die
-cells stay in cell cycle
-found in GI tract, blood cells, skin, urinary tract, mouth (types of protective epithelium, basically anywhere where there is abrasion)

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3
Q

What are stable/ quiescent cells?

A

-cells that regenerate under demand but rarely under normal conditions
-slower proliferation than liable cells
-found in liver, endocrine gland, kidney, bones
-these cells can regenerate if there’s damage to one of these areas

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4
Q

What are permanent cells?

A

-cells that cannot reproduce themselves after birth
-non-dividing, no proliferation
-found in CNS, nerve tissue, skeletal muscle, and heart

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5
Q

What are the 3 autosomal recessive genetic disorders we discussed in class?

A

1) gaucher’s disease (Go-SHAY)
2) neimann-pick disease
3) tay-sachs disease

This are all also lysosomal storage diseases!

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6
Q

Who has the highest risk of getting gaucher’s disease (Go-SHAY)?

A

eastern and central Jews (Ashkenazi) ancestry

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7
Q

In gaucher’s disease (Go-SHAY), it is missing an enzyme that breaks down lipids. This results in a buildup of fatty substances in certain organs, especially _________ and _________. The organs enlarge and effect their function

A

spleen, liver

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8
Q

What are the complications for gaucher’s disease (Go-SHAY)?

A

-liver and spleen are enlarged, so the abdomen can become painfully distended
-skeletal abnormalities (can weaken bone, increasing risk of painful fractures, can interfere with blood supply to bones which can cause portions of the bone to die)
-blood disorders (a decrease in healthy RBCs (anemia) can result in severe fatigue, also a decrease in platelets which can cause easy bruising and nose bleeds
-skin is pale bc the patient has a lack of oxygen in blood
-sphingolipidosis (harmful accumulation of sphingolipids and glucoserebrosides accumulate in RBCs, liver and spleen)

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9
Q

What is the deficient enzyme in gaucher’s disease (Go-SHAY)?

test q

A

glucocerebrosidase

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10
Q

What is the treatment for gaucher’s disease (Go-SHAY)?

A

enzyme replacement therapy (but its very expensive)

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11
Q

Which autosomal recessive genetic disorder may allow you to live into adulthood?

A

gaucher’s disease (Go-SHAY)

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12
Q

What is niemann-pick disease?

A

-unable to metabolize fat like cholesterol and lipids within cells, so they accumulate and the cells will malfunction and die
-this affects the brain, nerves, liver, spleen, BM, and lungs
-mainly affects children
-sphingolipidosis (sphingomyelin accumulates in the brain and RBCs)

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13
Q

Niemann-pick disease is a progressive loss of function of nerves, brain, and organs. What are the signs?

A

-mental retardation
-spasticity (you’re resisting your own movements, you cant control it so its tight and spazy)
-seizures
-hepatosplenomegaly
-thrombocytopenia (low platelet count)
-ataxia (no coordination)

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14
Q

Does niemann-pick disease have a cure?

A

no, its fatal

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15
Q

What is the deficient enzyme in niemann-pick disease?

test q

A

sphingomyelinase

memory cue- need your SPHINGER to PICK your nose

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16
Q

What is the first sign of someone wasted with alcohol?

A

loss of coordination, it affects the cerebellum first

this is the same for brain damage, cerebellum is affected first

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17
Q

Who has the highest risk to get tay-sachs disease?

A

Ashkenazi Jews (1/27 are carriers)

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18
Q

What is tay-sachs disease? What are the signs?

A

-gangliosides accumulate in neurons in the brain and spinal cord
-neurodegenerative disorder
-slowed development usually around 6 months old
-muscle weakness
-stiffness and muscle contractions (spasticity)
-excessively startled by noises/movements
-loss of motor skills
-seizures
-cherry red spot in macula of the eye
-usually will result in death by age 4

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19
Q

What enzyme is deficient in tay-sachs disease?

test q

A

hexosaminidase A

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20
Q

Birth defects are also known as….

A

congenital disorders

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21
Q

Congenital disorders may be the result of one or more of the following:

A

-genetic problems (genes not working properly, like Fragile X syndrome)
-chromosomal problems
-infections
-exposure to medication, chemicals, or other agents during pregnancy (ex: thalidomide)

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22
Q

What are the 3 types of congenital abnormalities?

A

1) agenesis
2) aplasia
3) hypoplasia

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23
Q

What is agenesis?

quiz q

A

failure of all or part of an organ to develop during embryonic growth
-many forms of agenesis are lethal but agenesis of one paired organ may create little disruption of normal function
-NO PRIMORDIAL TISSUE PRESENT HERE!!!!!

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24
Q

What are the 5 types of agenesis?

A

1) anencephaly
2) renal agenesis
3) meromelia
4) phocomelia
5) amelia

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25
Q

What is the most common type of agenesis?

A

anencephaly

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26
Q

Which type of agenesis can be prevented with folic acid consumption?

A

anencephaly

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27
Q

What is anencephaly?

A

-baby born without parts of brain and skull
-anterior neural tube disorder (anterior neural tube fails to close at the base of the skull)
-fatal

28
Q

What disorder is a posterior neural tube disorder where the posterior neural tube fails to close?

A

spina bifida

29
Q

What is renal agenesis?

A

-baby born w/o one kidney
-other types of agenesis can be of the bladder, testicle, ovary, thyroid, or lung

30
Q

What is meromelia?

A

-lacking of a part, but not all of it, of one or more limbs with the presence of a hand or foot
-results in a shrunken deformed extremity
-this is where the baby is born with a smaller arm than the other or both are disproportionate to the legs or vise versa (almost looks like a limb or multiple limbs stopped growing)

31
Q

What is phocomelia?

A

-born with normal hands and feet but absence of long bones
-no arm or forearm but there are hands (or no legs but there are feet)

32
Q

What is amelia?

A

born with complete absence of one or more limbs

33
Q

What is aplasia?

A

-the failure of an organ or tissue to develop or to function normally
-presence of primordial tissue WITHOUT any further growth

ex: extra nipples

34
Q

What is hypoplasia?

A

-the underdevelopment or incomplete development of the body part
-less extreme than aplasia
-usually caused from chromosomal abnormalities like turner, klinefelter, or digeorge syndrome

35
Q

What are the 2 primary hypogonad conditions (partial lack of growth and maturation of the gonadal structures) we talked about?

A

turner syndrome and klinefelter syndrome

note: primary hypogonadism means that you don’t have enough sex hormones in your body due to a problem in your gonads. Your gonads are still receiving the message to produce hormones from your brain but they aren’t able to produce them

36
Q

What is turners syndrome?

A

-females usually have XX chromosomes, but in this case a female is born missing 1 whole X or partially
-there is a wide range on severity depending on if its a whole X or partial
>short stature
>webbing of neck
>broad chest and widely spaced nipples
>pigmented nevi (spots on skin)
>low posterior hairline
>streak ovaries, infertility, amenorrhea
>peripheral lymphedema at birth

37
Q

What is klinefelter syndrome?

A

-males usually have XY chromosomes, but in this case they have XXY
-wide range of presentations

38
Q

What are the signs of klinefelter syndrome?

A

-low testosterone
-reduced muscle mass, facial hair, and body hair
-breast enlargement
-may have more feminine characteristics
-produces little to no sperm (so treatment also includes testosterone replacement and fertility treatment)

39
Q

What is another name for Digeorge syndrome?

A

22Q syndrome (bc its a defect in 22nd chromosome) or thymic hypoplasia

40
Q

What is Digeorge syndrome?

A

-defect in chromosome 22
-usually characterized with T cell deficiency and poor development of several systems BC THE THYMUS IS UNDERDEVELOPED (thymus should be maturing T cells but here it is underdeveloped and results in a whole body response of poor immunity and other complications)

41
Q

What are the characteristics of DiGeorge syndrome?

A

-unusual facial appearance (under developed chin, eyes with heavy eyelids. ears that are rotated back, and small upper portions of the earlobes)
-cleft palate
-heart defects
-hypocalcemia (low levels of calcium in the blood) may cause seizures (this is due to parathyroid being affected by underdeveloped thymus)
-poor immune system function (increased susceptibility to viral, fungal, and bacterial infections, as well as increased risk for autoimmune diseases)
-may show tetany (tetanus, lock jaw) 24-48 hours after birth

42
Q

Is there a cure for DiGeorge syndrome?

A

no, treatment is purely to help with quality of life

43
Q

What are the 5 leukocytes (WBCs)?

A

1) Neutrophils
2) Lymphocytes
3) Monocytes
4) Eosinophils
5) Basophils

mnemonic: “Never Let My Engine Blow”

44
Q

What percentage of our blood should be neutrophils in normal circumstances?

A

60%

45
Q

What percentage of our blood should be lymphocytes in normal circumstances?

A

30%

46
Q

What percentage of our blood should be monocytes in normal circumstances?

A

8%

47
Q

What percentage of our blood should be eosinophils in normal circumstances?

A

2%

48
Q

What percentage of our blood should be basophils in normal circumstances?

A

0%

49
Q

What does increased neutrophils (more than 60% of our blood) mean?

A

acute inflammation

50
Q

What does increased lymphocytes (more than 30% of our blood) mean?

A

chronic inflammation

51
Q

What are some examples of acute inflammation?

A

-ankle sprain
-bee sting
-acute BACTERIAL infection
-paper cut

52
Q

What are some examples of chronic inflammation?

A

-RA
-lupus
-diabetes
-ACUTE VIRAL infections

53
Q

HIV and AIDS hijacks which immune cells?

A

macrophages and T4 helper cells (this results in the pt being unable to fight even basic infections like cold, flu, etc)

54
Q

What is the key feature for spina bifida oculta?

A

hairy patch on skin, on top of the segment(s) that did not close posterior neural tube properly

55
Q

What is the key feature of spina bifida meningocele?

A

fluid filled bump

56
Q

What is the most severe type of spina bifida?

A

myelomeningocele

57
Q

What is the key feature of spina bifida myelomeningocele?

A

fluid filled bump with nerves and meninges

58
Q

Which Ab is the smallest?

A

IgG

59
Q

Which Ab is transplacental (travels from mom to baby)?

A

IgG

memory cue: Gee thanks mom

60
Q

Which Ab is the 2nd one to arrive in an inflammatory response?

A

IgG

61
Q

Which Ab is found in tears and saliva?

A

IgA

62
Q

Which Ab is found in breast milk?

A

IgA

63
Q

Which Ab is the largest?

A

IgM

64
Q

Which Ab is the 1st to arrive in an inflammatory response?

A

IgM

65
Q

Which Ab is important for allergies and parasites?

A

IgE