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cellular regulation - clinical exemplars Flashcards

1
Q

cerebral palsy -

pathophysiology

A

disorder of movement, muscle tone or posture

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2
Q

cerebral palsy -

etiology

A

injury or abnormal development in the immature brain

before birth or up to one year old

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3
Q 
cerebral palsy -
risk factors (5)
A 
pre or perinatal cerebral hypoxia 
hemorrhage 
infection
genetic abnormalities 
low birth weight
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4
Q

cerebral palsy -

classifications (3)

A 
Spastic 
Dyskinetic 
Ataxic 
can present with:
diplegia 
hemiplegia 
tetraplegia
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5
Q 
Cerebral palsy - 
associated disorders (7)
A

-seizures
-intellectual impairment
(mild to severe)
-visual impairment
-communication disorders
-respiratory problems
-bowel and bladder problems
-orthopedic disabilities

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6
Q

cerebral palsy -

diagnosis (3)

A

history + physical
neurological exam
developmental milestones

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7
Q

cerebral palsy -

treatment (5)

A 
no known cure 
supportive care 
symptom management 
pharmacological therapy 
non pharmacological therapy
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8
Q

Cystic Fibrosis -

pathophysiology (4)

A
  • autosomal recessive
  • defective epithelial chloride ion transport
  • CF gene on gene 7
  • 6 classes
    1-3 more severe
    4-6 more mild
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9
Q

Cystic Fibrosis -

diagnosis (3)

A

average 6 months

  • immunoreactive trypsinogen (IRT) blood test
  • sweat test
  • genotyping
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10
Q

Cystic Fibrosis -
clinical manifestations
respiratory (7)

A 
thick sticky mucous 
chronic cough 
infections
tachypnea 
wheezing + crackles
hemoptysis
dyspnea on exertion
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11
Q

Cystic Fibrosis -
clinical manifestations
gastrointestinal (3)

A

obstruction
large, oily stool
abdominal pain

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12
Q

Cystic Fibrosis -
clinical manifestations
reproductive (men)

A

obstruction of sperm canal

congenital bilateral absence of vas deferens

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13
Q

Cystic Fibrosis -
clinical manifestations
reproductive (women) (2)

A

increase in thick cervical mucous

may lead to decrease in fertility

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14
Q

Cystic Fibrosis -
clinical manifestations
reproductive (6)

A 
delayed sexual development 
absence/stopping of menstruation 
irregular periods
inflammation of cervix
infertility or sterility
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15
Q

Cystic Fibrosis -

treatment (8)

A
  • mucous clearance
  • bronchodilators
  • aerosolized dornase alfa and hypertonic saline
  • antibiotics
  • recombinant human growth hormone (improves lung function)
  • lung transplant
  • pancreatic enzymes
  • specific diet
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16
Q

Celiac Disease -

pathophysiology (7)

A
  • autoimmune disease
  • gluten damages small intestinal villous epithelium (T cell mediated)
  • multiorgan
  • genetic predisposition
  • atrophy + flattening of villi
  • crypt hyperplasia in upper small intestine
  • malabsorption of nutrients in presence of gluten
17
Q 
Celiac Disease - 
greater presence (8)
A
  • kids with type 1 diabetes
  • autoimmune thyroid/liver disease
  • down syndrome
  • turners syndrome
  • williams syndrome
  • selective immunoglobulin A deficiency
  • addisons disease
  • first degree relatives with CD
18
Q 
Celiac Disease - 
clinical manifestations (9)
A
  • watery diarrhea
  • muscle weakness
  • seizures/tetany
  • bone reabsorption
  • hyperoxaluria
  • alteration of gall bladder function
  • steatorrhea
  • fat soluble vitamin deficiency
  • iron/folic acid deficiency
19
Q

Celiac Disease -

symptoms: GI (5)

A
  • diarrhea
  • abdominal pain
  • vomiting
  • anorexia
  • constipation
20
Q

Celiac Disease -

symptoms: EI (10)

A
  • fatigue
  • weight loss
  • delayed puberty
  • dermatitis herpetiformis
  • dental enamel hypoplasia
  • aphthous stomatitis
  • arthritis
  • osteoporosis
  • fractures
  • neurological manifestations
21
Q

Celiac Disease -

diagnosis (5)

A
  • serological autoantibody measurement
  • tissue transglutaminase
  • antiendomysial antibody
  • deaminated gliadin peptides
  • endoscopy
22
Q

Celiac Disease -

treatments

A

gluten free diet

supplements

23
Q

Down Syndrome -
manifestations
IQ

A

ranges from 20-70

24
Q

Down Syndrome -
manifestations
reproductive

A

mostly all males are sterile

some females can reproduce

25
Down Syndrome - manifestations face
``` distinct features low nasal bridge epicanthal folds protruding tongue low set ears ```
26
Down Syndrome - manifestations musculoskeletal
poor muscle tone | short stature
27
Down Syndrome - manifestations systemic disorders
- congenital heart disease - hard to fight resp. tract infections - susceptible to leukemia - reduced survival rate
28
Down Syndrome - manifestations mortality
75% of fetuses spontaneously abort or are stillborn 20% die before age 10 life expectancy of 60 otherwise
29
Down Syndrome - manifestations causative factors
97% caused by nondisjunction during formation of one parents gametes during embryonic development 3% from translocations
30
Down Syndrome - | Chorionic villus sampling
``` placenta cells taken and fetal chromosomes are analyzed 1st trimester (10-13 weeks) ```
31
Down Syndrome - | amniocentesis
``` needle inserted into uterus to take amniotic fluid sample chromosomes are analyzed 2nd trimester (after 15 weeks) ```
32
Down Syndrome - | after birth diagnosis
based off visual characteristics
33
Down Syndrome - | chromosomal karyotype
blood sample analyzes chromosomes | extra chromosome 21 means DS
34
Down Syndrome - | treatment
individualized early intervention improves quality of life multidisciplinary approach
35
Duchenne muscular dystrophy (DMD)
- most common - X-linked - mostly affects boys - mutation of dystrophin gene (dystrophin maintains cystoskeleton structural integrity)
36
Duchenne muscular dystrophy (DMD) | manifestions
- preschool years - difficulty walking - large weak calves - gower sign - progressive muscle and respiratory weakness - blood creatine kinase level up to 100 times more than normal
37
Duchenne muscular dystrophy (DMD) | diagnosis
High CK level | genetic testing of dystrophin gene for mutation
38
Duchenne muscular dystrophy (DMD) | management
- maintaining function - steroids - range of motion exercise - bracing - surgical release of contracture of deformities and scoliosis - calcium/vitamin D supplement - night splints - family support

N116 (11 decks)

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