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531 > genetics / development > Flashcards

genetics / development Flashcards

1
Q

chromosome

A

in the nucleus of each cell of our genes

23 pairs

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2
Q

sex chromosome

A

X or Y

XX is female
XY is male

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3
Q

autosome

A

one of the numbered chromosomes
NOT a sex chromosome

Arranged largest to smallest, short to long

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4
Q

allele

A

different versions of a gene

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5
Q

Homozygous

A

two alleles are the same

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6
Q

heterozygous

A

two alleles are different

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7
Q

x linked genetics: fathers

A

Girls will be carriers

boys CANNOT have disease or be carriers

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8
Q

x linked genetics: mothers

A

50% girls will be carriers

50% of the boys having the DISEASE (cannot be carriers)

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9
Q

Chromosomal abnormalities signs and symptoms

A 
dysmorphic features
growth restrictions
developmental delay
hypotonia
cardiac impairment
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10
Q

Down syndrome due to

A

nondisjunction

translocation

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11
Q

nondisjunction

A

the paired copy of the chromosome does not separate at cell division

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12
Q

translocation

A

long arm chromosomes 15,21,22 breaks off and reattaches

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13
Q

Down syndrome

A

Trisomy 21 (3 copies of chromes 21 in each cell)

1/800 babies in BC

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14
Q

Children with DS tend to have:

A

identifiable facial features
hypotonia, dec strength, lig laxity

heart defects (40%)

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15
Q

Brain patho features of DS

A

reduced wt of brain
small convolutions
structural abnormalities in motor cortex

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16
Q

Orthopaedic impairments of DS

A

dec strength / lig laxity

i.e. Atlanta axial instability (check at 5yrs old, avoid somersaults / horseback riding until checked)

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17
Q

Prader WIlli Syndrome

A

deletion of chromosome

maybe related to disturbance in hypothalamus

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18
Q

Duchenne Muscular Dystrophy

A

mutation of single gene on X chromosome

usually in males from mother carriers

X21 fails to produce dystrophin protein

progression symmetric mm wasting

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19
Q

Duchenne muscular dystrophy progression

A

diagnosis at 4-5yrs old via physical exam, CK levels and genetic testing

Steady progression

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20
Q

S/S of Duchenne

A

calf pseudohypertrophy
gowers sign
developmental signs
gait

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21
Q

PT management Duchenne

A

Lifespan approach (early intervention, school age, adult)

Medical management

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22
Q

5 types of muscular dystrophy

A 
beckers
congential 
facioscapulohumeral 
myotonic
emery-dreifus
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23
Q

beckers MD

A

slowly progressive, has some dystrophin

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24
Q

congenital MD

A

diagnosed after birth, variable prognosis

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25
Q

facioscapulohumeral MD

A

rare and affects male/females equally

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26
Q

myotonic MD

A

most common after DMD, least severe

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27
Q

emery-dreifus MD

A

humeral, perineal, some facial involvement

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28
Q

T/F spinal muscular atrophy is autosomal recessive disorder

A

T

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29
Q

spinal muscular atrophy

A

anterior horn degeneration (LMN disease)

Gene deletion, extension of deletion =severity

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30
Q

Types of spinal muscular atrophy

A

Type 1: wergnig Hoffman (most severe)
Type 2: intermediate form
Type 3: kugelberg
Type 4: adult onset

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31
Q

pathogenesis of spinal muscular atrophy

A

continuous apopotsis of anterior horn cells

loss of survival motor neurons

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32
Q

impairments of spinal muscular atrophy

A

hypotonia (dec in function NOT strength)

weakness /fatigue (symmetrical and proximal)

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33
Q

treatment of spinal muscular atrophy

A

preventative

maintain strength, posture, resp, cardio function

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34
Q

Hemophilia

A

x linked recessive

severe bleeding disorder

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35
Q

Genetics of hemophilia

A

if mother is a carrier, boy will have it 50%, and girl will be carrier 50%

36
Q

T/F if mother is not carrier of hemophilia, but previous child had it, the 2nd child will definitely have it

A

NO, the chances are extremely LOW

37
Q

primary hemostasis

A

immediate response to vascular injury

platelet clot at site

38
Q

secondary hemostasis

A

delayed

39
Q

T/f the defining abnormality of hemophilia is impairment of secondary hemostasis

A

T

40
Q

hemophilia Type A

A

factor VIII deficiency (responsible for 80% of hemophilia)

41
Q

Hemophilia Type B

A

factor IX deficiency (responsible for 20% of hemophilia)

42
Q

Severe hemophilia major issues

A

+++ venous access, need for prophylaxis, risk of inhibitor

10-20 bleeds/year

43
Q

moderate hemophilia major issues

A

+ venous access, need for prophylaxis, risk of inhibitor

1-3 bleeds/year

44
Q

mild hemophilia major issues

A

DDAVPchallenge for hemophilia A

<1 bleed/year

45
Q

can hemophilia patient exercise

A

yes, we educate, assess over time, and exercise once bleed is stable

46
Q

can kids w hemophilia do sports

A

yes low risk sports (swimming, golf, tennis, biking)

moderate (soccer, hockey, volleyball) are permitted

High risk (ice hockey, martial arts, football) should be avoided

47
Q

marfan syndrome is an autosomal dominant disorder T/F

A

T

48
Q

marfan syndrome

A 
connective tissue disorder
Chromosome 15 (fibrillar) is suppose to form elastic fibres and theres a lack of them
49
Q

Greatest implication of Marfan syndrome

A

aortic aneurysm

50
Q

PT management for Marfan syndrome

A

Strength

exercise prescription and close monitoring

51
Q

neural tube deficits is multifactorial inheritance T/F

A

T

52
Q

neural tube deficits

A

failure of neural tube to close

i.e. spina bifida

53
Q

where is neural tube deficit most common

A

lumbar and low thoracic region

54
Q

what helps neural tube deficit rate decline

A

folic acid and pre natal screening

55
Q

ethology of neural tube deficit

A

genetic
exposure to teratogens
folic acid deficiency

56
Q

Myelomeningocele is AKA

A

spina bifida

57
Q

impairments of myelomeningocele

A 
flacid or spastic paralysis
mm weakness/wasting
contractures
dec/absent reflexes
dec/absent proprioception

vert column (kyphosis, scolioses, lordosis, osteoporosis)

rectal/bladder incontinence

58
Q

T/F spina bifida can lead to chiari malformation

A

T

59
Q

T/F cerebral palsy is a progressive lesion of the brain that occurs before age of 2

A

F - its NON progressive

60
Q

Cerebral palsy

A

disorder of movement and posture

61
Q

5 co morbidies of Cerebral palsy

A 
hearing/speech deficit 
seizures
scoliosis 
hip dislocation 
mental retardation
62
Q

why has CP increased

A

inc in pre mature birth survival
advancing maternal age
more vitro fertilization

63
Q

causes of CP

A

normal birth weight children: 80% because of factors before birth

low birth weight children: don’t know when the brain damage occurs

64
Q

T/F any prenatal, perinatal or post natal condition that results in anoxia hemorrhage or brain damage is diagnosed as CP

A

T

65
Q

diagnosis of CP

A

registry

hip surveillance

66
Q

Risk factors associated with Cp pre natal

A

maternal: infection, diabetes, malnutrition, thyroid, seizures

abnormal placental attachment

67
Q

risk factors associated with CP perinatal

A

prematurity
low birth weight
low Apgar score
prolapsed umbilical cord

68
Q

risk factors with post natal CP

A 
neonatal infection
brain tumour
CVA
anoxia
environmental toxis
69
Q

does having multiple risk factors lead to CP

A

no

70
Q

Prenatal causes Cp first/second trimester

A

brain development disorder

71
Q

prenatal causes CP early third trimester

A

peri-ventricular leukomalacia

intraventricular hemorrhage

72
Q

prenatal causes CP late third trimester

A

basal ganglia / thalamic lesions

infarcts in middle cerebral artery

73
Q

perinatal causes of CP

A

birth asphyxia

birth trauma

74
Q

post natal causes of CP

A

stroke
meningitis /encephalitis

brain tumours
near drowning

75
Q

periventricular leukomalacia

A

small holes in brain around ventricles due to death of small areas of brain tissue

76
Q

most common ischemic brain injury in pre mature infants:

A

periventricular leukomalacia

77
Q

increased risk for periventricular leukomalacia if:

A

26-34 weeks gestation
small for gestational age (<3.3lbs)

rupture of membranes, preterm labour

78
Q

can PVL happen to term babies

A

yes, could have severe quadriplegia /learning difficulties / epilepsy

79
Q

PVL diagnosis

A

ultrasound

cystic changes

80
Q

when do paediatric strokes occur

A

90% happen in first week of life

81
Q

T/F first week of life is your highest risk for stroke across lifespan

A

T

82
Q

perinatal stroke sign

A

seizure

83
Q

perinatal stroke which after involved

A

middle cerebral

84
Q

risk factors perinatal stroke

A

pre-eclampsia
ruptured membranes
bleeding
diabetes

85
Q

perinatal stroke possible causes

A

thormbi from placenta
congenital heart disease
dehydration

86
Q

do adult strokes or perinatal strokes have better outcome

A

perinatal

87
Q

Gross motor function classification system

1-5

A

1 - speed, balance impaired
2 - railing for stairs, uneven surfaces and crowds are hard
3 - assistive mobility device but could be out of chair
4 - wheeled mobility
5- all areas motor function limited. not independent

531 (5 decks)

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