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Quarter 3 > Peds buzz words > Flashcards

Peds buzz words Flashcards

1
Q

Osteogenesis Imperfecta

A 
Type 1 collagen
Maternal Ultrasound
Wormion bones, Codfish
Hypercalcemia
Tx: Pamidronate (Biphosphonates)
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2
Q

Marfan syndrome

A 
FBN1
Arachnodactylyl, Hypermobile joint
Aortic rupture risk
Pneumothorax
Ectopic lens
CVS, Amniocentesis, DNA test
Tx: Beta blocker
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3
Q

Prader Willi

A 
Missing dad's chromo 15 info
Genetic imprinting
Sterile
Food seeking
Hypotonia,FTT--> Hypophagia, obese
Molecular genetic test: methylation
Tx: HGH, Testosterone, Estrogen
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4
Q

Fragile X synd

A 
Male, intellectual disability
Large ears, long narrow face
X-linked, RECESSIVE
Macro-orchidism after puberty
CCG repeated in FMR1 gene
Cardiac: mitral valve prolapse
Eye: Strabismus

Premutations: Primary ovary insufficiency and Tremor/ataxia syndrome (FXPOI, FXTAS)

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5
Q

Fragile X synd

A

FMR1

CCG repeated in FMR1

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6
Q

Prader Willi synd

A

Chromosome 15

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7
Q

Marfan synd

A

FBN1 gene

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8
Q

Osteogenesis Imperfecta

A

Type 1 collagen

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9
Q

DiGeorge Synd

A

Triad: Cardiac abn, thyroid T cell insuff, Low calcium
Chromosome 22 (22q11.2)
Immune system issues- recurrent infections, inflammatory dz
Cleft palate
GU abnormaity
Decrease T cells
CXR: “Thymic shadow”
Tx: CAUTION w live vaccines
Thymic transplant, H.Stem cell transplant

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10
Q

Aortic rupture risk

A

Turner syndrome

Marfan syndrome

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11
Q

Turner syndrome

A 
Webbed neck
Higher risk for X linked recessive 
Aortic risk
Madelung deformity
Cubitus valgus (wide)
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12
Q

Horseshoe kidney

A

Turner
Edwards (trisomy 18)

Both with T’s

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13
Q

“Rocker bottom”

A 
Turner
Patau synd (trisomy 13)
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14
Q

Monitor for what in Turner syndrome?

A

Gonadal CA- germ cell tumor

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15
Q

Patau syndrome

A 
Prechordal Mesoderm defect
Midline craniofacial
Sloping forehead
Hypotonia
Severe intellectual disability
CHD
Most pass in utero
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16
Q

Trisomy 18: Edwards syndrome

A

Intra-uterine Growth Restriction
IUGR
HYPERtonia/spascticity
Majority die in utero

17
Q

Trisomy 21: Down syndrome

A 
Brushfield spots (speckled iris)
Cataracts, hearing loss
Cardiac: AVSD, VSD
GI: Hirchsprung, Celiac
MSK: Hypotonia, laxity
Hand: TRANSVERSE palmar crease "Simian"
18
Q

Anticholinergic (antiM) antidote

A

Physostigmine

19
Q

Benzos antidote

A

Fluazenil

20
Q

B-blockers antidote

A

Glucagon

21
Q

Opoids/Narcotic antidote

A

Narcan/Nalaxone

22
Q

Drowning poor prognosis factors

A 
*Submersion >5 min
Time to BLS >10 min
Resuscitation >25 min
Older than 14YO
GCS <5
Persistent apnea and CPR needed
pH <7.1

Quarter 3 (17 decks)

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