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Understanding Human Disease Exam 2 > Chapter 6 > Flashcards

Chapter 6 Flashcards

1
Q

how many chromosomes results from fertilization?

A

23 (autosomes 1-22)

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2
Q

XX

A

girl

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3
Q

XY

A

boy

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4
Q

developmental disease

A

birth defect, congenital anomalies

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5
Q

where do developmental disease originate?

A

embryo (first 8 weeks in utero) and fetus (9 weeks-birth)

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6
Q

developmental disease affects..

A

normal maturation

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7
Q

how are developmental disease caused?

A

unknown or hereditary

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8
Q

genetic disease

A

disease caused by abnormal DNA (inherited, occur during gamete development)

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9
Q

classifications of developmental disease

A
  • errors of morphogenesis (creation of genes)
  • monogenetic (one gene effected)
  • polygenetic (multiple genes effected)
  • chromosomal
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10
Q

what percentage of newborns have birth defects?

A

3-4%

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11
Q

what are the causes of birth defects?

A
  • 65% unknown
  • 20% genetic
  • 5% chromosomal
  • 10% environmental
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12
Q

how many are born with serious birth defects?

A

250,000 (heart defect is most common)

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13
Q

polygenetic diseases

A
  • many genes and environmental causes (multifactorial)
  • cleft lip/palate
  • spina bifida
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14
Q

chromosomal disease

A

alterations in chromosome structure or number

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15
Q

chromosome abnormalities are the..

A
  • leading cause of genetic diseases
  • leading cause of intellectual impairment
  • leading cause of pregnancy loss
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16
Q

types of chromosomal changes

A
  • aneuploidy: wrong number of chromosomes, too little or too many
  • deletions: chromosome missing
  • translocations: 2 chromosomes swap
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17
Q

non-disjunction in meiosis

A

chromosomes don’t separate correctly either in the first or second round

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18
Q

indications of genetic diseases

A
  • mother 35 years or older
  • parents who have child with known genetic disease
  • family history
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19
Q

what are some tests to determine if determine if a genetic disease is present?

A
  • screening tests: maternal serum screening (look for markers) not definitive, low specificity and sensitivity
  • diagnostic tests: amniocentesis and chorionic villi (use cells collected from fetus)
  • ultrasound
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20
Q

amniosentesis

A

injects needle into mothers abdomen to collect amniotic fluid, ultrasound is used to follow needle

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21
Q

amniocentesis detects..

A

about 1,000 of the more than 5,000 known chromosomal and biochemical problems

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22
Q

amniocentesis risk

A

pregnancy loss is 1 in 1,600

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23
Q

what are some recommendations in getting an amniocentesis?

A
  • weeks 16-18
  • mother 35+
  • parents with known genetic disease
  • family history
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24
Q

chorionic villi sampling (CVS)

A

needle goes up the vagina to get amnion from baby
- chorionic villi: projections of the placenta

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25
Q

when is it recommended to get a chorionic villi sample?

A
  • 10-12th weeks of pregnancy
  • earlier results than amniocentesis, but less accurate (cannot test for neural tube defects)
  • greater risk of pregnancy loss (1%)
  • may not be accurate if needle collected cells from mom instead of baby
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26
Q

what does an ultrasound exam detect?

A
  • structural abnormalities of nervous system (anencephaly, spina bifida)
  • hydrocephalus: water on brain
  • obstruction of urinary tract
  • failure of kidneys to develop
  • failure of limbs to form normally
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27
Q

stages of development

A
  • fertilization
  • embryonal period = first 8 weeks after fertilization
  • fetal period = weeks 9-38 (full term)
  • perinatal period = two weeks before birth to one month after birth
  • infancy = first year
  • childhood
  • adolescence = puberty
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28
Q

morphogenesis

A

creation of form

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29
Q

teratogens

A

harmful drugs and chemicals, pathogens, can cause birth defects

30
Q

what are examples of teratogens?

A
  • cigarettes
  • alcohol
  • radiation
  • maternal infections (syphilis, rubella, herpes simplex virus)
31
Q

what are the most common embryonic/fetal diseases?

A

congenital heart defects, early period, might not know you’re pregnant so can cause problems
- come to attention around time of birth (cyanosis and murmur)

31
Q

embryonic period is also known as..

A

organogenesis = organs mature and develop

32
Q

what are causes of embryonic and fetal diseases?

A
  • environment (teratogens/maternal illness)
  • genetic (down syndrome, phenylketonuria)
33
Q

categories of drugs harmful to fetus

A

A = no risk
B = no evidence of risk to fetus
C = risk to fetus cannot be ruled out
D = positive evidence of risk to fetus
X = absolutely contraindicated in pregnancy

34
Q

fetal alcohol syndrome

A
  • 1:1,000 births (not rare)
  • mom consumes alcohol (how much determines severity)
  • fetal growth restriction, CNS abnormalities, distinctive facial features (shorter, small head, small face features, intellectual disabilities)
35
Q

perinatal

A

“around” birth

36
Q

most important cause of death in perinatal diseases is..

A

premature born babies

37
Q

premature

A
  • births occurring 3 weeks or more prior to full term
  • calculated by gestational age (time between fertilization and birth, calculated from last day of menstrual cycle)
38
Q

prematurity effects approximately..

A

10% of babies

39
Q

does gestational age directly correlate with survival?

A
  • 24 weeks = 50% survival
  • 37 weeks = 100% survival
40
Q

what are complications of premature births?

A
  • low birth weight
  • brain development
  • lung development
41
Q

cerebral palsy (prematurity complication)

A
  • increased risk in premature babies
  • group of disorders affecting learning, muscle tone, movement, motor skills, hearing, and seeing (nervous system didn’t develop)
  • nonprogressive
42
Q

major causes of infant death

A
  • congenital and chromosomal abnormalities (born)
  • prematurity and low birth weight
  • sudden infant death syndrome (SIDS)
  • complications of maternal diseases (diabetes)
  • diseases of the placenta and umbilical cord
43
Q

sudden infant death syndrome (SIDS)

A

unexpected, sudden death of a chiid under age 1

44
Q

risk factors for SIDS

A
  • sleeping on stomach
  • being around cigarette smoke while in the womb or after birth
  • sleeping in the same bed as their parents
  • premature birth
  • having a brother or sister who had SIDS
  • mothers who use illegal drugs
  • being born to a teen mother
  • no prenatal care
  • living in poverty situations
45
Q

how do diseases of older age groups differ from childhood and adolescence?

A
  • neoplasms less common
  • not dying from heart disease
  • accidents and infections more common
  • some genetic diseases manifest in childhood
46
Q

genetic disease

A

disease caused by a change in DNA sequence away from normal sequence (may be inherited from either parent, errors in meiosis or mitosis)

47
Q

classifications of genetic diseases

A
  • chromosomal disorders (number/structures)
  • autosomal dominant
  • autosomal recessive
  • sex linked
48
Q

specific genetic diseases

A
  • down syndrome
  • sickle cell disease
  • marfan syndrome
  • cystic fibrosis
  • phenylketonuria
  • duchenne muscular dystrophy
  • sex chromosome
49
Q

trisomy 21 (downs)

A
  • discovered in 1866 by John Langdon Down
  • now known to result from 3 chromosomes on 21
  • most common chromosome abnormality
  • single most common cause of genetic intellectual impairment
50
Q

clinical features of down syndrome

A
  • intellectual impairment (variable)
  • round face, slanted eyes
  • small stature
  • congenital heart disease
  • intestinal defects (colon)
  • increased risk of alzheimers disease
  • reduced life expectancy because of heart defects
51
Q

causes/risks of down syndrome

A
  • error in cell division (95% due to non-disjunction i meiosis 1)
  • egg is source of extra 21 in 95% of cases
  • main risk if moms age, older eggs are more fragile
52
Q

turner syndrome (sex chromosome)

A
  • only one sex chromosome (X)
  • female phenotype
  • short, webbing of neck, female internal sex organs don’t develop (infertile), never get period = no puberty, heart issues
53
Q

klinefelter syndrome

A
  • XXY
  • male phenotype
  • tall, no development of internal sex organs, cannot have kids, breast development (gynecomastia), nondisjunction is main cause
54
Q

many hereditary diseases are transmitted on ..

A

autosomes

55
Q

autosomal dominant inheritance

A

only need one copy of dominant allele

56
Q

autosomal recessive inheritance

A

need both recessive copies

57
Q

an infected person with autosomal dominant inheritance has a ..

A

50% chance of passing gene to child

58
Q

examples of autosomal dominant inheritance

A
  • huntingtons disease
  • marfan syndrome
59
Q

marfan syndrom

A
  • defect ini collagen synthesis (found in many organs)
60
Q

marfan syndrome effects..

A
  • skeleton (tall, disproportionately long appendages)
  • heart valves
  • eye (retina comes detached)
  • reduced life expectancy due to cardiac arrest
61
Q

cystic fibrosis

A
  • most common autosomal recessive disorder affecting caucasians (1/27 are carriers)
  • mutation in chloride channel
  • results in thick mucus of the lungs and effects movement of sodium
  • life expectancy reduced to ~35 yrs (lung infections)
62
Q

sickle cell disease

A
  • mutation in hemoglobin (RBC) molecule, altering its shape
  • more common in African-Americans and Mediterranean dissent
63
Q

signs and symptoms of sickle cell disease

A
  • anemia
  • microinfarcts (small death of tissue because of lack of blood flow)
  • can cause sickle cell crises (decreases blood flow of organ)
  • reduced life expectancy
64
Q

phenylketonuria

A
  • DON’T drink diet pops
  • mutation in phenylalanine hydroxylase enzyme absent, resulting in phenylalanine accumulation
  • results in intellectual impairment
  • builds up and causes toxicity in the brain
65
Q

is testing of newborns for phenylketonuria mandatory?

A

yes

66
Q

examples of X linked diseases

A
  • duchenne muscular dystrophy
  • hemophilia = disease of clotting
67
Q

x-linked disease

A

mother is carrier of faulty copy of x-linked gene
- male with x-linked disease got it from mom
- females are often carriers because they have a backup X chromosome
- if father is infected, girls are genetic carriers and males have a chance of being carriers

68
Q

duchenne muscular dystrophy

A

neuromuscular disease

69
Q

symptoms of duchenne muscular dystrophy

A
  • delayed development
  • loss of motor skills (onset at 3 years old)
  • clumsiness/frequent falls
  • difficulty walking and running (wheelchair bound by 12)
  • ultimately effects diaphragm (death usually occurs around 30)
70
Q

when is duchenne muscular dystrophy diagnosed?

A

16 months to 5 yrs

Understanding Human Disease Exam 2 (5 decks)

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