peds Flashcards

(91 cards)

1
Q

trisomy 21

A

down syndrom

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2
Q

trisomy 21 symtoms

A
simin crest 
hearing loss
atlanto occipital instability
doudenal atresia 
hypo thyriosim
leukemia
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3
Q

trisomy 18

A

edwards

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4
Q

trisomy 18 symtoms

A
iugr
hands clinching
severe menatal retardation
rocker bottom feet
omphalocele
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5
Q

trisomy 13

A

patu

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6
Q

trisomy 13

A

iugr
polydactyl
holoprosencephaly
midline cleft

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7
Q

45 xo

A

turner syndrom

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8
Q

turner syndrom

A
short stature
overian dysgenisis
lymphedema
cubitus valgus
coarctation of the aorta by age 3 
bicuspid aortic valve mc
renal
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9
Q

klinefelter

A

47xxy

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10
Q

klinefelter

A
male
tall stature thin long limbed
delayed secondary development
gynecomastia 
behavioral disorders
no sperm do to damged sterile cells
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11
Q

frágil x

A
repet cgg
mc form of heritable mr
males 
macroorchidism
karyotype normal
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12
Q

marfan syndrom

A
febrillin 1 gene (ad)
joint hyperlaxity- 
arachnodactyly- long fingers
kyphosis scoliosis
ectopic lentis 
aortic and mitral regurg
_can not exercise
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13
Q

ehlers danlos syndrom

A

fibrillar collegen
jont hypermobility
skin hyperelesticity
fragil blood vessels

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14
Q

collegen type 1

A

bone muscle

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15
Q

collegen 2

A

cartilage

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16
Q

collegen 3

A

bv organs

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17
Q

collegen 4

A

basement membrane

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18
Q

achondroplasia

A
proximal extremity shortening
large head
prominent for head and mandible
lordosis protrusion of abdomen
cord compression
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19
Q

beckwith wiedeman syndrom

A

hemihypertrophy
larg for gestational age
hypoglycemia - primary hyper insulinemia due to beta cell hyperplaisa
adominal tumors

tx subtotal pancreatectomy

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20
Q

prune belly syndrom

A

congenital absence of anterior abdominal wall muscle
urinary anomalies
cryptochidism

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21
Q

prader willi

A

chromosome 15

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22
Q

prader willi syndrome

A
obesity 
short stature 
hypotonia 
hypo gonadism
mental retardation
aggressive 
central medial nucleus
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23
Q

sickle cell disease black male

A
hemoglobin s  
substitute valine for glutamic acid
polymers
sickle or crescent shaped 
hand foot syndrome
vaso occlusive  crisis
howell jolly bodies
infections with encapsulated organisms
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24
Q

hemoglobin c disease

A

lysine for glutamic acid

rod shaped crystals in rbc

splenomegaly- spleen eats rbc crystals and eats them

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25
what must be given at delivery
.5 erythromycin drops | 1 mg vitamin prevent hemorrhagic disease
26
what test is used to determine need for resuscitation
apgar
27
1 minute score of apgar
evaluation after delivery
28
5 min score of apgar
used to see response to therapy
29
after evaluation if neonatal hr is
do ppv
30
if after evaluation neonate HR is
compression epinephrine fluides HCO3
31
brachial cleft cyst
lateral to midline remnant of embryonic development associated with infection . surgical removal branchail cyst
32
throglossal duct cysts
midline mass associated with infection thyroid ecotopia mgt surgical removal
33
respitory distress syndrom
``` decreased surfactant maturity high surface tension atelectasia tachypnea, grunting flearing cyanosis fatigue hypercarbia acidodsis respitory failure ```
34
best initial test for rds
chest x ray
35
most accurate test for rds
L/S raito phospholipid
36
best treatment for rds preventative
steriod im 32 -36 wks
37
best initial rds treatment
o2
38
most effective treatment for rds
o2
39
aniridia
iris missing , associated with wilms tumor hemi hypertrophy | chromosome 11
40
coloboma
defect in iris key** shaped iris , tubulor eslcearosis | associated with ? huntington retion 13
41
mongolian spot
blue gray macule looks like buses fade in few years | r/o child abuse.
42
hemingioma
``` red sharply demarcated raised lesion appears in first 2 months of life involuting by age 9 mgt: leave alone or treat with steroid or pulse later ```
43
port wine stain
permeant unilateral of face or neck vascular malformation sturge webers syndrom--GNAQ gene mgt:pulsed lazer therpy
44
pre auricular tags- pits
hearling loss genitourinary abnormailtys mgt: hearing test ultra sound of kidneys
45
omphalocele
failure of the go tract tartaric at 10 12 wrks through umblicus with sac mgt:screen for 13 18 and 21 trisomy and silo to contain it
46
Gastroschisis
abdominal defect lateral to the midline shift with out a sac intestinal atresia mgt. silo
47
umbilical hernia
weakness in rectos abdominal muscle congenital hyperthyriodism mgt:tsh screening my close.
48
hydrocele
tunica vaginalis scrotal swelling inguinal hernia | mgt :rule out inguinal hernia
49
hypospadia
mgt do not circumcise
50
epispadia
mgt evaluate for bladder exstrophy.
51
when can jaundice be seen ?
by day 2-3 .most are less then 13mg/dl
52
a baby with jaundice of 15mg/dl treat with
sun to convert uncongigated to conjugated bilirubin
53
baby with 25 mg / dl
exchange transfusion
54
work up for judice indirect hyoerbilirubinemia
rbc enzyme defect Geranylgeranyl diphosphate rbc membrane defect -nephrocytosis vasculitis
55
brest milk jaundice
2nd week of life glucouronyl tranferase inhibitor dx/ rx stop feeding for 24 if bilirubin is >15
56
what does glucouronyle transferase do
turns uncongigated to conjugated bilirubin
57
brest milk contains?
``` colostrum iga macrophages fat vit c need to supliment vit d les fe but better absorbed ```
58
formula contains
``` equal calories fl casein protien vitd vit c ```
59
fetal alcohol syndrom
``` crainal abnormailtys cardiac defect cns mental retardation hyperactivity iugar-intra outran growth restriction ```
60
28 wks -2-3 months
palmar grasp
61
32 wks 1 month
rooting
62
30 wks 6m
moro
63
8m -life
parachute
64
6 month old gross motor skill
sit up roll over
65
6 m fine motor skill
reach and grab
66
6 m language skill
bables
67
12 m old gross motor skill
stand cruz play with ball
68
12 m what should his fine motor skill be
pintch grab
69
12 m what can he say
mom dad
70
2 yr old gross motor skill
run jump walk up stairs
71
2 yr old fine motor skill
arch circle tower 4-5 blocks
72
2 yrs language
50 words 2 words together
73
2 yrs can adaptive
can feed itself
74
5 yr old gross motor skill
hop on foot skip over hand throw
75
5 yr old fine motor skill
can draw shapes
76
5 yr old language
answer questions relate to events story
77
5 yr old adaptive
toilet trained self dress
78
how to diagnose epilepsy
2 unprovoked seziure within 24 hours
79
absence seizure
``` motor affected flickering eye lids rare less then 5 y/o no poetical state mg. 1 line ethosuxamide 2 valpuric acid ```
80
general sezuire mg
vp acids
81
partial seuzire
tonic clonic 10-20 sec | mgt carbamazepine with vp acid
82
croup para influenza virues
hoarsness barking cough inspirtatory strider lateral neck films subglottic narrowing
83
treat meant for croup
mild: humidification moderate: racemic epinephrine dexamethazone- I'm longer anti inflammatory severe ; hospilation
84
epligotitis
inflammation of supraglottic larynx due to hib vaccine abroupt on set of fever drooling sniffing do not disterb
85
epiglotitis management
humidified o2 intubate iv antibiotics
86
bronchiolitis
``` lower airway rsv mostly rhinorrhea fever cough first 6 m of life expiatory wheezing hx of prior illness ```
87
os good schlepper disease
painful lumps just below knee and most often seen in young adulencents repeated stress from contraction of quadriceps is transmitted through patella tendon to immature tibial tuber city treatment : RICE
88
bronchiolitis mangment
steriods beta agonist ribavirin - ihaled antibotic palivizumab- prophylaxis im
89
asthma
chronic inflamitory disorder of airway reversable bronchospasm acute and chronic inflammation
90
ebv
``` mononucleosis 90 is ebv shed for 6 m fatigue pharyngitis spleenomegaly mgt rest and symptomatic treatment ```
91
hiv
``` posistive transfer of newborn elective c section bottle feed elsie western blot if positive >18 active iv treat azt. ```