Packet 3 (Quiz 2)

Question 1

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

Answer 1

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

Question 2

What are liable cells?

Answer 2

-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)

Question 3

What are stable/ quiescent cells?

Answer 3

-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

Question 4

What are permanent cells?

Answer 4

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

Question 5

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

Answer 5

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

This are all also lysosomal storage diseases!

Question 6

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

Answer 6

eastern and central Jews (Ashkenazi) ancestry

Question 7

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

Answer 7

spleen, liver

Question 8

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

Answer 8

-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)

Question 9

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

test q

Answer 9

glucocerebrosidase

Question 10

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

Answer 10

enzyme replacement therapy (but its very expensive)

Question 11

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

Answer 11

gaucher’s disease (Go-SHAY)

Question 12

What is niemann-pick disease?

Answer 12

-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)

Question 13

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

Answer 13

-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)

Question 14

Does niemann-pick disease have a cure?

Answer 14

no, its fatal

Question 15

What is the deficient enzyme in niemann-pick disease?

test q

Answer 15

sphingomyelinase

memory cue- need your SPHINGER to PICK your nose

Question 16

What is the first sign of someone wasted with alcohol?

Answer 16

loss of coordination, it affects the cerebellum first

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

Question 17

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

Answer 17

Ashkenazi Jews (1/27 are carriers)

Question 18

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

Answer 18

-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

Question 19

What enzyme is deficient in tay-sachs disease?

test q

Answer 19

hexosaminidase A

Question 20

Birth defects are also known as….

Answer 20

congenital disorders

Question 21

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

Answer 21

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

Question 22

What are the 3 types of congenital abnormalities?

Answer 22

1) agenesis
2) aplasia
3) hypoplasia

Question 23

What is agenesis?

quiz q

Answer 23

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!!!!!

Question 24

What are the 5 types of agenesis?

Answer 24

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

Question 25

What is the most common type of agenesis?

Answer 25

anencephaly

Question 26

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

Answer 26

anencephaly

Question 27

What is anencephaly?

Answer 27

-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

Question 28

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

Answer 28

spina bifida

Question 29

What is renal agenesis?

Answer 29

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

Question 30

What is meromelia?

Answer 30

-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)

Question 31

What is phocomelia?

Answer 31

-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)

Question 32

What is amelia?

Answer 32

born with complete absence of one or more limbs

Question 33

What is aplasia?

Answer 33

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

Question 34

What is hypoplasia?

Answer 34

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

Question 35

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

Answer 35

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

Question 36

What is turners syndrome?

Answer 36

-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

Question 37

What is klinefelter syndrome?

Answer 37

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

Question 38

What are the signs of klinefelter syndrome?

Answer 38

-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)

Question 39

What is another name for Digeorge syndrome?

Answer 39

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

Question 40

What is Digeorge syndrome?

Answer 40

-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)

Question 41

What are the characteristics of DiGeorge syndrome?

Answer 41

-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

Question 42

Is there a cure for DiGeorge syndrome?

Answer 42

no, treatment is purely to help with quality of life

Question 43

What are the 5 leukocytes (WBCs)?

Answer 43

1) Neutrophils 2) Lymphocytes 3) Monocytes 4) Eosinophils 5) Basophils mnemonic: "Never Let My Engine Blow"

Question 44

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

Answer 44

60%

Question 45

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

Answer 45

30%

Question 46

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

Answer 46

8%

Question 47

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

Answer 47

2%

Question 48

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

Answer 48

0%

Question 49

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

Answer 49

acute inflammation

Question 50

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

Answer 50

chronic inflammation

Question 51

What are some examples of acute inflammation?

Answer 51

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

Question 52

What are some examples of chronic inflammation?

Answer 52

-RA -lupus -diabetes -ACUTE VIRAL infections

Question 53

HIV and AIDS hijacks which immune cells?

Answer 53

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

Question 54

What is the key feature for spina bifida oculta?

Answer 54

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

Question 55

What is the key feature of spina bifida meningocele?

Answer 55

fluid filled bump

Question 56

What is the most severe type of spina bifida?

Answer 56

myelomeningocele

Question 57

What is the key feature of spina bifida myelomeningocele?

Answer 57

fluid filled bump with nerves and meninges

Question 58

Which Ab is the smallest?

Answer 58

IgG

Question 59

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

Answer 59

IgG memory cue: Gee thanks mom

Question 60

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

Answer 60

IgG

Question 61

Which Ab is found in tears and saliva?

Answer 61

IgA

Question 62

Which Ab is found in breast milk?

Answer 62

IgA

Question 63

Which Ab is the largest?

Answer 63

IgM

Question 64

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

Answer 64

IgM

Question 65

Which Ab is important for allergies and parasites?

Answer 65

IgE