Pediatrics Uworld Flashcards
7 year old with precocious puberty and exam shows pelvic mass on right ovary
granulosa cell tumor
friedreich ataxia
most common spinocerebellar ataxia auto recessive onest before 22 years old gait ataxia, falling, dysarthria skeletal deformities
most common cause death in friedreich ataxia
cardiomyopathy- concentric hypertrophic cardiomyopathy
Tx for acute abnormal uterine bleeding in hemodynamically stable individual
high dose estrogen therapy
when is beswetting normal
before age 5
hormones in turners
high FSH from lack ofnegative feeback
low estrogen
any sexually active female under age 24 shoul dbe screen for what
C trach
N gonn
Acute otitis media
middle ear effusion with acute eardrum inflammation
otitis media with effusion
middle ear effusion without acute inflammation
streak ovaries
Turners
cholesteatoma
retraction pocket in middle ear that fills with granulation tissue and skin debris
can cause hearing loss, CN palsies, vertigo and abscesses
Tx cholesteatoma
send to specialist and may need CT
primary amenorrhea and has uterus on US
do FSH
if increased- karyotype
if decrease- cranial MRI
Chronic granulomatous disease pathogens
catalase + Staph Serratia Burkholderia Aspergillus
Dx chronic granulomatous disease
Dihydrorhodamine 123 test
nitroblue tetrazolium test
what happens in chronic granulomatous disease
no phagocytic oxidative burst so cannot kill intracellular pathogens
signs chronic granulomatous disease
pneumonia, cutaneous abscesses, suppurative adenitis
Turners are at greatest risk of developing what
osteoporosis
kartagener inheritance
auto recessive
adolescent with nasal bostruction, visual mass and frequen nosebleeds
juvenile angiofibroma
go to specialist
Hereditary angioedema
C1 inhibitor deficiency
noninflammatory edema of face, limbs and genitalia
laryngeal edema- life threatening
edema of intestines causing abdominal pain
no urticaria
C1 deficiency leads to elevated levels of what
C2b and bradykinin
maternal estrogen effects in newborns
breast hypertropy
swollen labia
leukorrhea
uterine withdrawal bleeding
why wait till puberty to remove undescended testes from patient with andorgen insensitivty syndrome
benefits from gonad-stimulated puberty outweigh small risk malignancy
best thing for long term survivial SCID
stem cell transplant
defect in SCID
failure T cell development
B cell dysfunction from absent T cells
inheritance SCID
x linked recessive or auto recessive
signs of SCID
recurrent viral fungal and opportunistic infections
failure to thrive
chronic diarrhea
CD19+
B cells
CD3+
T cells
turners child has lymphedema
congenital probably from abnomral development of lymphatic network
can cause cystic hygroma
lymphedema
pitting or nonpitting
nonpitting
defect in mccune albright
defect in g protein cAMP kinase
triad in McCune albright
precocious puberty
pigmentations (cafe au lait)
polyostotic fibrous dysplasia
X linked aggamglobulinemia signs
recurrent sinopulmonary and GI infections after age 6 months
no tonsils or lymph nodes
Dx of agammaglobulinemia
dec Ig and B cells
normal T cells
no response to vaccines
Tx for X linked agammaglobulinemia
Ig replacement
prophylactic antibiotics
defect in agammaglobulinemia
defect in tyrosine kinase to prevent development mature B cells
defect in hyper IgM
x linked defect in CD40L
recurrent skin and mucosal bacterial infections in a kid with no pus formation
leukocyte adhesion deficiency
causes acute otitis media in kid
strep pneumo
H flu
moraxella catarrhalis
Tx acute otitis media
initial is amoxicilin
again is ugmentin
when to do myringostomy with tympanostomy tubes
> 3 episodes in 6 mo
>4 episodes in 12 months
myotonic dystrophy
auto dominant expansion CTG in DMPK gene on chrom 19q
later onset age 12-30
absent dystrophin gene
duchenne MD
presents 2- 3 years old
reduced dystrophin gene
beckers MD
presents 5-15 years
weight and height of child at 1 year old
weight should triple and height should increased by 50%
language development of a 2 year old
200 words
2 word short sentences
how to confirm duchenne MD
genetic testing
dystrophin gene on Xp21
complications for infants small for gestational age
hypoxia, perinatal asphyxia, meconium aspiration, hypothermia, hypoglycemia, polycythemia
risk factors for infants small for gestational age
preeclampsia, malnutrition, placental insufficiency, multiparity and drug use
mutation in marfans
fibrillin 1
CBC and Ig levels in chronic granulomatous disease
normal leukocyte, platelet and B and T cell concentrations
what antibiotic prophylaxis do you give to patients with chronic granulomatous disease
TMP SMX and itraconazole
contraindications to rotavirus vaccine
anaphylaxis to vaccine ingredients
Hx intussusception
Hx uncorrected congenital malformations of GI tract like meckels
SCID
which intussusceptions are not seen with contrast enemas
small bowel
need US to see target sign
Intussuceptions assoc with HSP
tend to be ileo ileal and actually require surgery
how to remove foreign body from vagina in little kid
calcium alginate swab or irrigate with warmed fluids after topical antibiotic applied
Immunizations are given to gestational age or chronological
chronological
weight has to be above what to give first Hep B vaccine
> 2 kg
complications cryptorchidism
inguinal hernia
testicular torsion
subfertility
testicular cancer
dx for prader wili
karyotype and methylatoin studies
FISH and microsatellite probes
Kallmans syndrome
46 XX
failure of migration of GnRJ and olfactory eurons
hormone levels in kallmans syndrome
decreased FSH and LH
Klinefelter karyotype
47XXY
