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Pathophysiology > Mod 6/7: Development, Pediatric, Oncology, Autoimmune, Genetic Disorders > Flashcards

Mod 6/7: Development, Pediatric, Oncology, Autoimmune, Genetic Disorders Flashcards

1
Q

incompatibility of blood types between mother & fetus

A

Rhesus Disease/Hemolytic Disease of Newborn

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2
Q

X-linked disorder affecting blood-clotting mechanism; causes internal bleeding

A

hemophilia

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3
Q

Name 2 types of muscular dystrophy. Which is more severe?

A

Duchenne’s (more severe) than Becker’s

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4
Q

abnormalities of blood’s hemoglobin where RBCs can’t carry oxygen d/t abnormal shape

A

sickle cell disease

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5
Q

LMN disease (autosomal recessive disorder): progressive degeneration of anterior horn of spinal cord and motor neurons which lead to mm atrophy and weakness

A

spinal muscular atrophy

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6
Q

congenital heart disease d/t oxygenated/deoxygenated blood mixing within heart;
w/ possible defects: ventricular septic defect, R ventricular hypertrophy, pulmonary valve stenosis

A

Tetralogy of Fallot

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7
Q

autosomal disorder where gene mutations cause abnormal collagen synthesis

A

osteogenesis imperfecta/ “brittle bone disease”

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8
Q

missing/incomplete limbs at birth d/t blood clots or amniotic band syndrome

A

congenital abnormalities

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9
Q

facial tissues don’t join in development ( a neural tube issue)

A

cleft palate or cleft lip

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10
Q

tilted head b/c abnormal intrauterine position or breech delivery

A

congenital torticollis

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11
Q

X-linked recessive disorder causing progressive proximal mm weakness d/t abnormal dystrophin production

A

Duchenne muscular dystrophy

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12
Q

s/s: Gower sign, gastroc pseudohypertrophy, LE mm atrophy before UE, abnormal ECG

A

Duchenne muscular dystrophy

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13
Q

s/s: fatigue, hypotonia, weakness, skeletal mm wasting, restrictive lung disease

A

spinal muscular atrophy

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14
Q

group of disorders that affect growing skeleton & bone epiphysis b/c abnormal growth or overuse

A

osteochondroses

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15
Q

ischemic necrosis that leads to flattening of femoral head

A

Legg-Calve-Perthes Disease

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16
Q

s/s: persistent thigh/knee pain, decreased ROM, limping, mm atrophy, unequal leg length

A

Legg-Calve-Perthes Disease

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17
Q

excess CSF accumulates & compresses brain tissue and blood vessels

A

hydrocephalus

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18
Q

forms of myelodysplasia: defective development of any part of the spinal cord (neural tube defect)

A

spina bifida

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19
Q

non-fusion of spinous process of vertebrae, but SC & meninges are intact (no neural deficit)

A

spina bifida occulta

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20
Q

______ = cyst-like protrusion through non-fused vertebrae:
_____: herniation of meninges & CSF into sac that protrudes through vertebral defect
_____: herniation of meninges, CSF & SC extending through defect in vertebrae

A

spina bifida cystica:
-meningocele
-myelomeningocele

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21
Q

s/s: motor loss below level of defect, sensory deficits, hydrocephalus, Arnold-Chiari malformation, osteoporosis, clubfoot, scoliosis, tethered cord syndrome, bowel/bladder dysfunction, learning disabilities

A

spina bifida

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22
Q

movement disorders d/t acquired brain damage in uterus, birth or infancy (til age 2)

A

cerebral palsy

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23
Q

s/s: (variable) abnormal mm tone, impaired movement modulation, abnormal reflexes, impaired mobility

A

cerebral palsy

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24
Q

cerebral palsy motor patterns (3):
-motor cortex or UMN Lesion
-basal ganglia lesion
-cerebellum involved

A

-spastic
athetoid
ataxic

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25
Q

traction injury during breech delivery, usually to brachial plexus

A

Erb’s Palsy

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26
Q

whiplash injury that causes intracranial/intraocular bleeding

A

shaken baby syndrome

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27
Q

insufficient surfactant so lungs collapse during exhalation; cause atelectasis or severe hypoxia)

A

infant respiratory distress syndrome

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28
Q

lateral spinal curvature: can be functional, neuromuscular or degenerative

A

scoliosis

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29
Q

fracture of pars interarticularis (around L5/S1)

A

spondylolysis

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30
Q

anterior slippage of one vertebrae on another

A

spondylolisthesis

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31
Q

autoimmune disease causing chronic inflammation in CT of children’s joints (inflamed synovial membrane)

A

Juvenile Rheumatoid Arthritis

32
Q

bone infection from trauma complication; often staphalococcus aureus cause

A

osteomyelitis

33
Q

if long bone grows faster than muscles/tendons can keep up, causes avulsion fracture (often upper tibial epiphysis)

A

Osgood-Schlatters

34
Q

3 types of righting reactions

A

body on head reaction: via tactile cues & proprioception
neck on body reaction: head moves, body follows
body on body reaction: flex/rotate LE & trunk (prone to supine)

35
Q

Reactions: stabilize body in response to destabilizing forces applied anywhere to body

A

Postural Fixation Reaction

36
Q

Reactions: protect body from injuries related to a fall by repositioning extremities

A

Protective Reaction

37
Q

Reaction: deviations in COG b/c support surface deviates; produces reaction in body/extremities to regain balance & correct COG

A

Tilting Reactions

38
Q

Name 5 s/s of cancer

A

unexplained weight loss
fatigue
anorexia
anemia
unusual bleeding/discharge
thickening/lump
obvious change in wart/mole
nagging cough/hoarse
sore that won’t heal
change in bowel/bladder

39
Q

Stage 1 neoplasm

A

malignancy limited to original tissue (no lymph nodes)

40
Q

Stage 2 neoplasm

A

malignancy spread to adjacent tissues, but no lymph node involvement yet

41
Q

Stage 3 neoplasm

A

malignancy spread to adjacent tissues w/ signs of fixation to deeper structures (likely lymph nodes)

42
Q

Stage 4 neoplasm

A

malignancy metastasize beyond primary site to bone or organ

43
Q

tx using thalidomide to suppress blood supply formation (inhibit malignancy)

A

antiangiogenic therapy

44
Q

innate protection to resist infection via skin, mucous membranes, bactericidal substances

A

natural immunity

45
Q

develops in response to exposure to antigens with formation of antibodies

A

acquired immunity

46
Q

T lymphocytes: maturation site, types of cytotoxic T cells; other type of T cell

A

in thymus
natural killer cells & T suppressor cells
helper T cell

47
Q

B lymphocytes: when are IgE and IgG/EgM activated?

A

IgE: in allergic reactions
IgG & IgM: after immunizations

48
Q

hypersensitivity reaction: allergic/anaphylactic response; release histamine

A

Type I w/ IgE

49
Q

hypersensitivity reaction: cytotoxic hypersensitivity; IgG/IGm react on antigens (autoimmune diseases)

A

Type II

50
Q

hypersensitivity reaction: immune complex hypersensitvity; type of autoimmune where immune complexes deposited in tissue

A

Type III

51
Q

hypersensitivity reaction: cell-mediated or delayed response; ex: organ transplant rejection or poison ivy reaction

A

Type IV

52
Q

2 types of nosocomial infections

A

health care associated infections (HCAI)
hospital acquired infection (HAI)

53
Q

immune complexes deposited in CT throughout body & affect many systems

A

systemic lupus erythematosus (SLE)

54
Q

s/s: butterfly-shaped rash, joint inflammation, arthritis, fever, weight loss, fatigue, malaise, cardiopulm problems, neuropsych issues, peripheral neuropathy, kidney problems

A

systemic lupus erythematosus (SLE)

55
Q

inc. collagen synthesis that leads to sclerosis (hard, thick, shrunken CT & skin)

A

scleroderma

56
Q

s/s: skin/joints appear thick, shiny and tight; Raynaud’s phenomenon, wrinkly/pursed mouth, contractures

A

scleroderma

57
Q

immune system attacks tissue in glands that produce moisture

A

Sjogren’s Syndrome

58
Q

s/s: Dec. tears, saliva, sweat & dry mucous membranes

A

Sjogren’s Syndrome

59
Q

genetic disorder with inheritance from 1 parent (50% chance child inherits)

A

autosomal dominant

60
Q

genetic disorder where both parents are carriers so child has 25% chance of inheriting & 50% chance of carryign

A

autosomal recessive

61
Q

genetic disorder where females are carriers, so manifested in males

A

X-linked recessive

62
Q

development sequence: prone on forearms & creeping

A

1-3 months

63
Q

development sequence: roll to supine & sit w/ support

A

3-6 months

64
Q

development sequence: roll to prone, sit unsupported, quadruped

A

6-9 months

65
Q

development sequence: crawl, pull to stand, cruise

A

9-12 months

66
Q

development sequence: walk alone & squat while playing

A

12-18 months

67
Q

s/s: varying intellectual disability, flattened face, hypotonicity, developmental hip dysplasia, atlantoaxial subluxation, congenital heart defect, underdeveloped intestines

A

Down’s Syndrome

68
Q

genetic disorder w/ fragile section of X chromosome, affects males more, on autism spectrum

A

Fragile X Syndrome

69
Q

genetic disorder w/ presence of extra X chromosome (XXY), affects males only

A

Klinefelter syndrome

70
Q

genetic disorder w/ total/partial lack of X chromosome; biologically female

A

Turner Syndrome

71
Q

s/s: inhibited growth, short neck, nonfunctioning ovaries, infertility, organ & aorta abnormalities

A

Turner syndrome

72
Q

autosomal dominant disorder affecting body’s CT (weak collagen, hypermobility, long/thin body)

A

Marfan Syndrome

73
Q

PT tx for which disease?
be aware of stasis ulcers in extremities & of pulmonary problems
-avoid overexertion

A

sickle cell disease

74
Q

PT tx for which disease?
prevent pulmonary infections & scoliosis; use bracing, manage contractures, manage equipment

A

spinal muscular atrophy

75
Q

PT tx for which disease?
be aware of shunt location (superficial under skin on side of head)
watch for signs of inc. head size/infection

A

hydrocephalus

76
Q

PT tx for which disease?
monitor lab values
exercise at 40-65% HR range
don’t exceed 12 on Borg’s RPE

A

Cancer

77
Q

PT tx for which disease?
avoid strenuous activity d/t cardiovascular abnormalities (weak collagen & aorta)

A

Marfan’s Syndrome

Pathophysiology (8 decks)

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