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118 Cards in this Set

  • Front
  • Back
severe MR, rocker bottom feet, low ears, prominent occiput
edwards syndrome (trisomy 18)
MR, microphthalmia, microcephaly, cleft lip/palate, poydactyly
patau's syndrome (trisomy 13)
defect in PKU
decreased phenylaline hydroxylase or decreased tetrahydrobiopterin cofactor
treatment for PKU
decreased phenylalanine and increased tyrosine in diet
finding in fabry's disease
renal failure
defect in fabry's disease
alpha-galactosidase A, which leads to accumulation of ceramide trihexoside
deficiency in gaucher's disease
beta glucocerebrosidase
crinkled paper enlarged cytoplasm
gaucher's
deficiency in niemann-pick disease
sphingomyelinase
cherry red spot on macula
tay sachs
defect in tay sachs
absence of hexosaminidase A, which leads to GM2 ganglioside accumulation
deficiency in metachromatic leukodystrophy
arylsulfatase a, which leads to accumulation of sulfatide in brain, kidney, liver, and peripheral nerves
corneal clouding and MR
hurler's syndrome
deficiency in hurler's
alpha-L-iduronidase
how is hunter's different from hurler's
milder; no corneal clouding
deficiency in hunters
iduronate sulfatase
sausage-shaped RUQ mass
intussusception
abdominal pain, vomiting, and blood per rectum
intussusception
acid base disturbance in pyloric stenosis
hypochloremic, hypokalemic metabolic alkalosis
B cell deficiency in boys
x-linked agammaglobulinemia (bruton's)
infections common in bruton's
pseudomonas
treatment for bruton's
prophylactic abx and IVIG
disease in which Ig drops in 20s and 30s
common variable immunodeficiency
Rx for common variable immunodeficiency
IVIG
increased risk of what with common variable immunodeficiency
lymphom and AI disease
most common immunodeficiency
IgA
oculocutaneous telangiectasias and progressive cerebellar ataxia caused by DNA repair defect
ataxia telangiectasia
frequent bacterial infections, chronic candidiasis, opportunistic organisms
severe combined immunodeficiency
eczema, increased IgE/IgA, decreased IgM, and thrombocytopenia
wiskott-aldrich syndrome
bleeding, eczema, recurrent otitis media
wiskott-aldrich syndrome
deficient superoxide production by PMNs and macrophages
CGD
Rx for CGD
daily TMP-SMX
diagnostic test for CGD
nitroblue tetrazolium test
chronic pulmonary, GI, UTI,; osteomyelitis with catalase + organisms
CGD
oculocutaneous albinism, neuropathy, and neutropenia
chediak-higashi syndrome
increased incidince of overwhelming infections with strep pyogenes, s. aureus, and pseudomonas
chediak-higashi
recurrent episodes of angioedema lasting 2-72 hours provoked by stress or trauma
C1 esterase deficiency (hereditary angioneurotic edema)
what do you check in suspected C1 esterase deficiency?
total hemolytic complement (CH50)
treatment for C1 esterase deficiency
danazol
recurrent meningococcal or gonococcal infections
total complement deficency
factors deficient in total complement deficiency
C5-C9
treatment for kawasaki
high-dose aspirin and IVIG
most common pathogen in croup
parainfluenza type 1
barking cough especially at night
croup
treatment for mild/moderate/severe cases of croup
cool mist therapy/ corticosteroids/ nebulized racemic epinephrine
common causes of epiglottitis
strep, nontypable h flu
steeple sign on x ray
croup - subglottic narrowing of airway
thumbprint sign on lateral film
epiglottitis
subglottic narrowing on xray
tracheitis
acute-onset high fever, dysphagia, drooling, muffled voice, inspiratory retractions, soft stridor
epiglottitis
kid with hyperextended neck and leaning forward in tripod position
epiglottitis
most common causes of otitis media
strep pneumo, h flu, moraxella catarrhalis
requirements for dx of otitis media
erythema, bulging, and decreased mobility of tympanic membrane
what worsens erythema infectiosum
sun and fever
virus that causes roseola infantum
HHV-6
acute onset of high fever, then 3-4 days later maculopapular rash appears as fever breaks, trunk then face/ext
roseola infantum (HHV-6)
herniation of intestine through abdominal wall next to umbilicus with no sac
gastroschisis
treatment of gastroschisis
surgical emergency - usually requires multiple stage closure
herniation fo abdominal viscera through the absominal wall at umbilicus into a sac covered by peritoneum and amniotic membrane
omphalocele
treatment for omphalocele
c-section can prevent sac rupture; if sac is intact, postpone surgery until pt is resuscitated
bilious emesis after first feeding
duodenal atresia
double bubble sign
air bubbles in stomac and duodenum seen in duodenal attresia
most common congenital GI tract anomaly
meckel's diverticulum
how does meckel's scan work?
uses IV technetium pertechnetate, which is preferentially taken up by gastric mucosa
most common cause of meningitis in newborns
GBS
most common cause of meningitis in 1 month - 2 year olds
strep pneumo
most common cause of meningitis in 2-18 year olds
neisseria meningitidis
most common cause of meningitis in >18 year olds
strep pneumo
vitamin used to treat measles
A
umbilical stump infection, poor suckling, fatigue, rigidity and spasms
neonatal tetanus
findings on light microscopy in minimal change disease
normal
diagnosis of pyloric stenosis
abdominal ultrasound
first step in acute alkali ingestion
upper GI endoscopy
most common cause of congenital hypothyroidism
thyroid dysgenesis
recurrent bacterial infections, delayed separation of umbilical cord, necrotic periodontal infection
leukocyte adhesion defect
adolescent female with hirsutism/virilization with normal menstruation and increased 17 hydroxyprogesterone
congenital adrenal hyperplasia
sequelae of bacterial meningitis
decreased hearing, decreased cognitive funcitons, seizures, MR, spasticity/paresis
howell-jolly bodies
splenectomy
Rx for impetigo
topical mupirocin or oral erythromycin
treatment for metatarsus adductus
reassurance
treatment for JRA
NASAIDs and check LFTs
how is sturge weber inherited
sporadic
port wine stains, cerebral lesions - nevi involving leptomeninges
sturge weber
sensorineural deafness, heart malformations, cataracts
congenital rubella
GI problem associated with HSP
intussusception
when does celiac disease typically present?
12-15 months
prophylactic measure for pt with 46 XY turners
bilateral gonadectomy
meningitis with WBC <250, protein <150, normal glucose
viral
percent HbS in sickle cell trait
35-40%
harsh, holosystolic murmur at LLSB
VSD
how much do babies need to weigh to receive Hep B vaccine?
2 kg
meningitis and petechial rash
meningococcus
treatment for transient synovitis
bed rest
synovial fluid with WBC count >100K
septic arthritis
treatment for septic arthritis
surgical drainage, then IV abx
infant with tremors, increased wakefulness, loose stools, high-pitched cry, fist sucking, poor feeding, tachypnea in first 48 hrs
heroin withdrawal
when does methadone withdrawal in infant occur
2-6 weeks
irritability, hiccups, mouthing in first wk of life
phenobarb withdrawal
treatment for infantile spasms
ACTH
what part of CNS is involved in GBS
peripheral nerves
blue sclera
osteogenesis imperfecta
what is impaired in osteogenesis imperfecta?
type I collagen
gene involved in marfan's
fibrillin 1
trinucleotide repeat in fragile X
CGG
structure injured in supracondylar fracture
brachial artery
kidney findings in HSP
IgA deposition
when does gonococcal conjunctivitis appear in infants
days 2-5
another name for measles
rubeola
infant with FTT, bilateral cataracts, jaundice, hypoglycemia
galactosemia
defect in galactosemia
galactose-1-phosphate uridyl transferase
type of bronchoscopy to use in foreign body aspiration
rigid
normocytic, normochromic anemia in premie
anemia of prematurity
severe dehydration, hyponatremia, hyperkalemia, hypoglycemia, metabolic acidosis
congenital adrenal hyperplasia or 21-hydroxylase deficiency
treatment for clavicle fracture in newborn
none
asymptomatic male until 6-9 mos who then gets recurrent infections with strep pneumo, h flu
bruton's
when is surgery necessary in SCFE?
if >30-60% of femoral head slips off epiphysis
paralysis of hand and ipsilateral horner's
klumpke's palsy
antibodies in SLE
anti-sm, anti dsDNA