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PedsUSMLE1

QuestionAnswer
MC primary immunodefic? IgA defic
presentation IgA defic, tx recurrent respiratory and GI infxns, but mild and may be asympt
clinical presentation PCP severe hypoxia with normal CXR or diffuse, bilateral interstitial infiltrates and dry cough **esp suspect in HIV w PNA
Bruton's agammaglobulenmia describe, presents as X-linked low or absent B cells; after 6mos recurrent lung or sinus infxns w Strep and H Flu
severe combined immunodefic, cause, presents classic cause is adenosine deaminase defic; B cell and T cell defects; severe infxns first mos of life
Chediak Higashi, cause, present giant cell granules in PMNs, infxns, and oculocutaneous albinism; cause: defect microtubule polymerization
immun defic seen in kids (7) IgA, Bruton's, DiGeorge, SCID, Wiskott-Aldrich, Chediak-Higashi, CGD
CGD cause, present, dx X-linked reduced NADPH oxidase; infxns w catalase + Staph aureus, Pseudo; deficient nitroblue tetrazolium dye reduction by granulocytes (lack respiratory burst)
which pediatric immuno defic are X-linked Bruton's, Wiskott-Aldrich, CGD
complement defic C5-9 causes recurrent infxn w? Neisseria
hyper IgE syndrome, aka, cause recurrent staph (esp skin), often fair skin, red hair, eczema (aka Job's syndrome), failure of T helper to produce IFN-gamma (can see retention of primary teeth)
presentation of pts with B cell defic? T cell? Phago defic? B cell: 6mo (no more maternal Abs), encapsulated bugs (treat IVIg, except IgA defic); T-cell: 1-3mo opportunistic fungal, viral, intracell; phago: mucous mem, abscesses, poor wound healing
Exs of pts with B cell defic? T cell? Phago defic? Bcell: Bruton, IgA; Tcell: DiGeorge; Phago: CGD, leukocyte adhesion defic, Chediak Higashi
tx IgA defic can't give IVIg (anaphylaxis bc anti-IgA anitbodies--in fact they often present after transfusion anaphylaxis)--overall mild; just tx infxns
exs of combined immun dzs in kids SCID, ataxia-telangiectasia, Wiskott-Aldrich
what immunodefic can appear in 20-30's, cause combined variable immunodefic, a combined B and T cell dz, nml
what bugs are DiGeorge pts most at risk for fungi and PCP PNA
describe ataxia-telangiectasia, cause oculocutaneous telangiectasia, progressive cerebellar ataxia, a combined B&T cell immunodefic seen in kids; cause: DNA repair defect
note other telangiectasia dz (other than ataxia-telangiectasia) hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber), AVM in small vessels, presents with nose bleeds and skin discolorations
triad of Wiskott-Aldrich recurrent infxns (ie otitis media), TTP, eczema
C1 esterase defic, aka hereditary angioedema, can cause life-threatening airway edema
leukocyte adhesion defic, may present, cause defect in chemotaxis of leukocytes, can present with delayed separation of umbilical cord, recurrent skin, mucosal, pulmon infxns
what triple marker levels suggest Down's? low AFP, low estriol, hi bHCG
Marfans: iheritance, chromosome, defect, key clinical findings AD; chrom 15; defect fibrillin; arachnodactyly, pectus excavatum, tall stature, ocular lens subluxation, Ao root dilatation, MVP
tx Marfans CVS: b blocker and no contact sports; endocarditis prophylaxis, ocular check ups
Prader Willis: chromosome, diagnosis, key clinical findings 15q11 from father; FISH; FTT earlier in life but obesity later, short statues, almond eyes, hypotonia esp newborn, MR, hypogonad
Angelman: chromosome, diagnosis, key clinical findings 15q11 from mother; FISH; happy puppet w jerky movements, ataxia, bursts of laughter, severe MR
Noonan: inheritance, chromosome, diagnosis, key clinical findings usu sporadic also AD; chrom12; clinical dx; short stature and shield chest, webbed neck and low hairline, R sided heart lesions, usu PS, MR in 25%
diGeorge: inheritance, chromosome, diagnosis, key clinical findings sporadic and AD; 22q11;FISH;thymus and parathyroid leads to T-cell defic and HypoCa++, cardiac: aortic arch, VSD, TOF
velocardiofacial: inheritance, chromosome, diagnosis, key clinical findings sporadic and AD; 22q11;FISH;cleft palate, VSD and R sided Ao arch, neonatal hypotonia and learning disabilities
Ehlers-Danlos: inheritance, defect, diagnosis, key clinical findings AD; Col V; clinical; hyperextensible joints, loose fragile skin, easy bruising, MVP Ao root dilatation andfragile blood vessels, constipation, rectal prolapse and hernias
OI: inheritance, defect, classif, diagnosis, key clinical findings AD; abnml Col I; classif 4 types (just describing type I);clinical, radiol, genetic; blue sclera, fragile bones, yellow/gray teeth, easy bruisability, early conductive hearing loss
VACTERL: inheritance, diagnosis, key clinical findings sporadic; clinical; vertebral, anal atresia, cardiac (VSD), TE fistula, renal, limb
CHARGE: inheritance, diagnosis, key clinical findings sporadic; clinical; colobama, heart (TOF), atresia of nasal choanae, retard growth and cognition, genital, ear
Williams: inheritance, chromosome, diagnosis, key clinical findings AD; chrom7 incl elastin; FISH; cocktail party personality, MR, subravalv stenosis, hyperCa++,
Cri-du-chat: inheritance, chromosome, diagnosis, key clinical findings sporadic; chrom5; chrom deletion; slow growth, microcephaly, MR, cry like cat,
key features of Down's craniofacial/musculoskel: epicanthal folds, protruding tongue, single palmar creases; neuro: hypotonia, MR, GI: duo atresia, Hirschsprung, pyloric stenosis; CVS: 40%, endocardial cushion defects
complications of Down's atlantoaxial cervical spine instability (CXR screen), Leuk, celiac, Alzheimers, obstructive sleep apnea, conductive hearing loss, hypothyroid, cataract and glaucoma
Key features tri 18 (Edwards) more often females, hypertonia, clenched fists and overlapping digits, rocker bottom feet
Key features tri 13 (Patau) midline defects, holoprosencephaly, severe MR, cleft lip
Turner syndrome: defect, clinical, tx only 1 X chrom; short stature, webbed neck, ovarian dysgenesis causes delayed puberty; CVS: L-side heart lesions, esp coarct, BAV, HLHS; need hormone tx for puberty
Fragile X: defect, clinical X-linked CGG repeats on X-chromosome (anticipation, so syndrome gets worse ea generation as repeats get longer); variable MR, large ears and macrocephaly, large testes, autistic features/ADHD
Klinefelter: defect, clinical MC cause male infertility; XXY incrsd risk w incrsing maternal age; tall stature, delayed puberty, gynecomastia, variable MR, antisocial
Achondroplasia: inheritance, defect, clinical features and complications most sporadic but some AD; FGF3 gene; megalocephaly, foramen magnum stenosis; limb shortening and joint hyperextensibility, recurrent otitis media and conductive hearing loss
Achondroplasia: complications foramen magnum stenosis: hydrophelaus and cord compression, obstructive sleep apnea, ortho problems
diethylstilbestrol during pregnancy causes… incrsd risk cervical cancer, genitourinary abnmlties
what causes flipper limbs when given during pregnancy? thalidomide (flipper limbs is called phocomelia)--had been given for morning sickness
cause, inheritence, and dx of homocystinuria cause: cystathionine synthase defic; AR; methionine in urine&plasma (or positive urinary cyanide nitroprusside test)
clinical features of homocystinuria and how difft from Marfans Marfanoid habitus w/o arachnodactyly; aortic or MV regurg, but no Ao dilatation; hypercoag; develop delay
tx homocystinuria methionine restricted diet, ASA for hypercoag, folic acid and B6
inheritence, dx, tx of phenylketonuria AR; dx: incrsd phenylalanine:tyrosine in serum; phenylalanine restricted diet
clinical features of phenylketonuria (PKU) infantile hypotonia, develop delay, progressive MR, eczema
clinical features of galactosemia right after first breast feeding or cow's milk; key: hypoglycemia and hepatomegaly (also vomitting, diarrhea, FTT, cataracts w oil drop appearance, renal tubular acidosis)
what are the 2 glycogen storage diseases (GSD) and common features in common: organomegaly&metabol acid; GSD1=Von Gierke glucose-6-phosphatase (hepatosplenamegaly, hypogly); Pompe alpha glucosidase [muscle wknss and cardiomegaly] **difft from X-linked glucose-6-P dehydrogenase defic hemo anemia in response to fava beans
key features of Tay Sachs, defect&inheritability, tx hypotonia, hyperacusis, macrocephaly, cherry-red macula, progressive blindness,sz, develop delay; cause: AR hexoosaminidase A defic; untreatable
name 3 gangliosidases [part of lysosomal storage dzs] Tay Sachs (hexosaminidase A defic), **MC: Gaucher's (glucocerebrosidase), Niemann-Pick (sphingomyelinase)
key features of Gauchers, defect&inheritability, tx hepatosplenomegaly, thrombocytopenia, flask shaped femur; AR glucocerebrosidase defic; enzyme replacement
key features of Niemann-Pick, defect&inheritability, tx neurodegen, ataxia, dz, hepatosplenomegaly, cherry red macula; AR sphingomyelinase defic; no tx
name 2 mucopolysaccharidoses lysosmal storage dzs, how differentiate? Hurler and Hunter; Hunter does not have corneal clouding (hunters need to see)
hepatolenticular degeneration aka Wilson's disease
name cardiac abnlties in: Ehlers-Danlos, Noonan, Williams, Turners, diGeorge/velofacial Ehlers-Danlos=MVP, Ao root dilation and fragile vessels, Noonan=R-sided heart, usu PS, Williams=supraAV stenosis, Turners=L-sided heart, esp coarct, BAV, HLHS, diGeorge/velofacial=aortic arch, VSD [TOF in diGeorge]
what is referred to as the male version of Turners Noonans (although affects male and female equally, does also have neck webbing)
what defect is on chrom 5? 7? 12? 15? 5=Cri-du-Chat , 7=Williams, 12=Noonan, 15=Angelman/Prader-Willis, Marfans
names types of rashes/skin lesions seen in neonates (8) milia (whitish papules), mongolian spots, pustular melanosis (vesicles), erythema toxicum neonatorum (flea bite looking (filled w eos)), nevus simplex/telangiectatic nevus on nape of neck, upper eyelids), port wine stain, hemangioma, neonatal acne
T/F neonatal acne is usu present at birth F (appears 1-2 wks)
what need to difft pustular melanosis from? viral infxns like herpes simplex and bacterial infxns, ie impetigo
what's the MC vascular lesion of infancy, describe location and time course nevus simplex, ie telangiectatic nevus, usu located neck, upper eyelids, nasolabial fold; transient (don't do anything)
define caput succedaneum diffuse edema swelling of scalp that crosses cranial sutures
differentiate bw caput succedaneum and cephalohematomas caput succedaneum crosses cranial sutures, cephalohematomas are also swellings (subperiostal hemorrhages due to birth trauma) but are limited by cranial sutures
define cephalohematomas subperiostal hemorrhages due to birth trauma limited by cranial sutures
define craniotabes, treatment? soft areas of skill with Ping-Pong ball feel, disappear within wks or mos
what could abnml red reflex in neonate indicate cataract, glaucoma, retinoblastoma, chorioretinitis
what check for in nose exam of neonate choanal atresia (can check using nasogastric tube in ea nostril)
define Pierre Robin syndrome micrognathia (small chin), downward displacement or retraction of tongue, obstruction of upper airway
define Epstein pearls, treatment? small white epidermoid-mucoid cysts on hard palate, disappear in few wks
what check for in neck exam of neonate (4) lateral or midline masses/cysts (lateral=branchial cleft, midline=thyroglossal duct), neonatal torticollis (sternoclastoid muscle), edema/webbing of neck (Turner syndrome), clavicles (fracture during birth if big baby)
what 2 neck masses seen in neonate? How differentiate? lateral=branchial cleft, midline=thyroglossal duct
what's the cut-off for tachypnea in newborn >60 breaths/min
diminished femoral pulse could indicate? Incrsd? diminished=coarct, incrsd=PDA
what check in umbilical cord? 2 umbilical arteries, 1 vein--if 1 umbilical artery could indicate renal abnormality
what do if umbilical hernia? usu close spontaneously, if persist >4-5yrs, or symptoms, could req surgery
define persistent urachus urachal duct didn't close, so a fistula bw bladder and umbilicus causes urine draining from umbilicus
when is meconium stool usu passed? What can meconium plug/ileus indicate? meconium stool usu passed by 24hrs, 99% by 48hrs; meconium plug/ileus can indicate cystic fibrosis
MC cause abdominal mass in neonate, other 2 causes hydronephrosis (blockage of kidneys), + polycystic kidneys, ovarian cysts
edema of feet w hypoplastic nails could indicate Turner or Noonan syndromes
rocker bottom feet seen in Tri 18
absence or hypoplasia of radius could indicate TAR syndrome (thrombocytopenia, absent radii), Fanconi anemia, Holt-Oram syndrome
what look for re: spina bifida hair tufts, dimples in lumbosacral area
how define preterm delivery? Post-term delivery? pre-term=<37wks since 1st day of last menstrual period; post-term= > or =42 wks from 1st d last menstrual period
list some of the complications of pre-term babies (8) respir distress (hyaline mem dz, surfactant defic), fluid/electrolyte incl hypogly and hypoCa++, indirect hyperbili, NEC, infxns, retinopathy of prematurity, PDA, anemia
list some of the complications of post-term babies (3) placental insuffic (incl severe intrauterine asphyxia), meconium aspiration syn, polycythemia
define small-for-gestational age (SGA), intrauterine growth retardation (IUGR) <5%=SGA (which is due to IUGR)
define large for gestational age (LGA), high birth wgt LGA=>90%, high birth wgt>4kg
causes LGA and high birth wgt maternal DM, Beckwith-Wiedemann, Prader-Willi, prolifer of pancreatic islet cells (nesidioblastosis)
describe Prader-Willi hypotonia, short stature, obesity, OCD like behaviors, small hands/feet/gonads, mild MR
list some causes of IUGR/SGA (divided into 3 categories) chromosome; maternal: infxn (TORCH)/chronic dz (HTN, preclampsia, severe DM)/Rx&toxins/malnutrition; placenta: infarct or insuffic; space
list some complications IUGR/SGA electrolytes (hypo Gly&Hypo Ca++ (same as premie)), thrombocytopenia, meconium aspiration, polycythemia
5Ts of cyanotic CHD TOF, TGA, TA, tV atresia, TAPV
diagnostic use of 100% O2 for causes of cyanosis cyanotic CHD w low pul BF 100% O2 incrs sl (10-15mmHg), if nml pul BF (TA) incrs 15-20; if lung will incrs a lot (ie >150mmHg)
assessment of lung maturity lecithin:sphingomyelin >2 and phosphatidylglycerol indicate lung maturity
signs of RDS on CXR diffuse atelectasis, w granular, ground glass appearance; small airways filled w air surrounded by density=air bronchograms
3 most common causes of respir distress in neonate [premie v full term] 1) RDS (hyaline mem disease & surfactant defic) in premie, 2) meconium aspir in full term, 3) persistent pul HTN in newborn (PPHN) in full term
how manage hyaline mem dz/insuffic surfactant suppl O2, CPAP +/- mech vent, exogenous surfactant
define persistent pul HTN in newborn (PPHN), premie v fullterm, 2 MC causes anything other than CHD causing decrsd BF to lungs due to incrsd PVR; full term; perinatal asphyxia and meconium aspiration syndrome
manage PPHN prevent hypoxemia (vasoconstricts), inhaled NO, ECMO
define types of apnea and which most common in neonate 1) central (no respir movements), 2) secondary 2ndry to obstruction (where mscls of respir are working), 3) mixed; MC=mixed
define physiologic jaundice in newborn incrsd indirect bili within 1st wk not related to pathology
what type of jaundice is always non-physiologic incrsd direct bili in newborn
describe brain complication of neonatal jaundice bilirubin encephalopathy: indirect bili at very high levels can cross BBB, goes to basal ganglia MC and can cause choreoathetoid cerebral palsy, hearing loss, opisthotonus (arching of back)
where does the diaphragm most commonly herniate L side, posterior and lateral
how differentiate omphalocele and gastrochisis omphalocele=thru umbilical ring area w peritoneal sac covering, assoc w CHD and other congenital dzs; gastrochisis=right paraumbilical area and no peritoneal sac or assoc w other congenital dzs
4 causes intestinal obstruction in newborn; what's MC? MC=intestinal atresia (specifically duo), meconium ileus (soap bubble distal ileum CXR), malrotation, Hirschsprung
pathophysiology of Hirschsprungs lack of migration of neural crest ganglion cells leads to contraction of distal colon and proximal dilation
diagnosis and management of Hirschsprungs bx of rectum, tx: resection of affected segment
characteristic CXR of NEC air in bowel wall (penumatosis intestinalis)
characteristics of infants of DM mother, key complications incrsd body fat and visceromegaly (incl liver, arenals, heart); length is incrsd more than wgt; complications: congenital dz ie CHD, small left colon syndrome (abd didstention and failure to pass meconium)
what dz is exclusive to neonates of DM mother small left colon syndrome (abd didstention and failure to pass meconium)
describe Alagille syndrome AD, paucity of intrahepatic bile ducts; cholestasis; pancreatic insuffic, +abnormal facies, PS, renal, hyperChol
when/how does pyloric stenosis present 1-2wks, nonbilious projectile vomiting
clinical presentation of midgut volvulus/malrotation bilious vomiting, sudden onset of abd pain in otherwise healthy infant
duo atresia commonly seen w what syndrome Downs
dbl bubble on CXR suggests duo atresia
what's the MC cause of bowel obstruction after neonate-2yr intussusception (peak 5-9mos)
what's the MC location of intussesception ileocolic
dx and tx of intussesception air or contract enema (both dx and tx)
currant jelly stools is characteristic of… intussusception
trident shaped hands is characteristic of… achondroplasia
describe back abnmlties w achondroplasia starts w lumbar kyphosis and becomes lordosis
rhizomelia describes… proximal bones affected, ie achondroplasia
which 2 genetic dz cause conductive hearing loss OI and achondroplasia, can also see w Downs
types of spina bifida SB oculta=vertebral cleft, no herniated tissue; meningocele=only meninges herniate (no neural deficits); meylomeningocele=spinal cord and meninges
etiologies of hydrocephalus Chiari II malform (Cb and medulla displaced thru magnum blocking CSF, often assoc w myelomeningocele); Dandy-Walker (abset Cb vermis); congenital aqueductal stenosis
which AML assoc w Downs? Which type responds to ATRA (all trans retinoic acid)? Downs assoc w M7 (megalokaryocytic), M3=promyelocytic (Auer rods)-good px bc responds to ATRA
2 MC causes of epiglottitis HIB (decrsd since immunization), S Pyo
clinical findings epiglottitis rapid progression upper airway obstruction w/o prodrome; hi F, dysphagia (difficulty swallowing) w drooling sitting forward; medical emergency bc complete airway obstruction can occur suddenly
CXR characteristic of epiglottis? Croup/subglottitis? epiglottitis=thumbprint on lat CXR; subglottitis=steeple sign on AP CXR
key differences bw epiglottitis and subglottis dzs supraglottis [epiglottitis]=no cough, hi F, dysphagia/drooling, quiet stridor; subglottis [croup, tracheitis]=loud stridor, barky cough, no dysphagia; hiF=tracheitis, low/med F=croup
3 types of JRA and their subdivisions 1) pauciauricular (early onset female 1-5yo and late onset male 8yo), 2) polyarticular (RF + or -), 3) systemic
describe pauciarticular JRA 4 or less joints, 1) early onset female 1-5yo, ANA + w uveitis; 2) ~8yo male HLA B27 can go on to develop ankylosing spondyl
describe polyarticular JRA 5 or more joints, both types usu female, 1) RF -, 2) RF + more likely to develop adult RA
describe systemic JRA often hi spiking F, transient non pruritic salmon rash, HSM, LAD, fatigue, wgt loss, 50% develop chronic destructive arthritis
Friedrich Ataxia unstable gait, speech getting worse, loss of DTR, HCM (90% cause of death)
differentiate bw Fanconi's anemia and TAR both have decrsd plts, Fanconi's has thumb and radius missing, and WBC and RBC are also decrsd; in TAR the thumb is present and radius is absent, and just plt are decrsd
describe Alport Xl HTN, hematuria (nephritic dz w GBM splitting), hearing loss, ocular
CXR of newborn shows fluid densities in horiz fissure retained fetal lung fluid, transient tachypnea of newborn
CXR of newborn shows patchy atelectasis meconium aspiration (also see hyperinflation, esp at bases)
CXR of newborn premie shows ground glass infiltrate, underinflation, air broncho RDS [like congenital PNA but in premie]
metabolic acidosis, incrsd NH3, incrsd AG organic acid IEM, ie alkaptonuria
eczema w repeated Staph infxns Job disease (problem of phagocytic chemotaxis), has hyper IgE
eczema w AOM, bleeding Wiskott Aldrich (see lymphopenia, low plt
incrsd tone, strabismus, organomegaly, FTT, skel abnmlties and low plt Gaucher
abnml enzyme in Gaucher beta glucosidase, aka glucocerebrosidase
nml at birth, no longer looking at parents, startle Tay Sachs
enz defic in Tay Sachs hexosaminidase
enz defic in Niemann Pick sphingomyelinase
enz defic in Fabry beta galactosidase
enz defic in Krabbes galactocerebrosidase [aka beta galactosidase?]
enz defic in Lesch Nyhan HGPRT
enz defic in alkaptonuria homogentisate dioyxgenase
MC urea cycle defect OTC (ornithin transcarbamylase)
enz defic in von Gierke GSD1, glu 6 phosphatase defic
enz defic in Pompe GSD2, alpha glucosidase defic
incrsd tone, irritability, sz, optic atrphy Krabbe
angiokeratomas in bathing suit pattern, severe pain, numbness/tingle in extremities Fabry
self mutiliation and dystonia Lesch Nyhan
MR blindess, paralysis, peripheral neuro Krabbes
fair complexion, MR, eczema, musty body odor PKU
what vaccines are given at 2mo HepB, rota, Dtap, HIB, PCV, IPV
what vaccines are given at 4mo Rota, Dtap, HIB, PCV, IPV [same as 2mo exc HepB]
what vaccines are given at 6mo HepB, Rota, Dtap, HIB, PCV, IPV [same as 2mo]
what vaccines are given at 12mo HIB, PCV [catch up on HepB, IPV if didn't get at 6mo] + MMR, Varicella, HepA
what s of ea vaccine should a child have rec'd by 15mo
what vaccines are given at 4yo DTaP, IPV, MMR, Varicella
what vaccines are given at 11yo Tdap, HPV (3doses), MCV
at what ages is MMR and Varicella given 12-15mos and 4yrs
what vaccines are not given again after 12-15mos Rota (last at 6mos), HepB, HIB, PCV (last at 12-15mos)
which vaccines given at 2mos require boosters at 4yo DTaP and IPV
after 4yo vaccinations how many DTaPs should the child have rec'd? 5
what vaccines are first given at 12-15mo MMR, Varicella, HepA
rash, blanching, migrates, appeared 10d after PCN--dx? PCN allergy
should give Ig to pt w IgA defic and very low IgA no
25yo chronic diarrhea, lot URI, eczema--dx? Tx? What else at risk for? CVID; monthly IVIG; increased risk of lymphoma
25yo chronic diarrhea, lot URI, eczema--dx? Describe Ig and B/T cell /fxn
3yo, clumsy, spider angiomas, URI repeatedly-dx? Tx? ataxia telangiectasia, tx infxns
1mo boy chronic diarrhea, FTT, thrush--dx? Tx? SCID, monthly IVIG and PCP prophylaxis
5yo bloody diarrhea, S Pneu PNA, eczema Wiskott Aldrich (low plts, eczema, combined immune defic)
8yo boy infxns w Hflu, Spneu, Staph, low B cells Brutons
3yo w abscesses, PNA--dx? How test? CGD, test nitroblue tetrazolium
3yo Staph infxn, albinism--dx? How to make dx? Chediak Higashi, look for giant lysosomal granules in PMN
what abnml in hereditary angioedema C1 esterase defic, leads to low C4 (usu presents 20-40yo)
bruising, GI bleeding, hyperext jts Ehlers Danlos (Col 5)
hi Ca++ as infant, elfin faces Williams syndrome (supravalv Ao stenosis, hernias, MR, hoarse voice)
large ears, large testis, behavioral problems Fragile X
tall, hypogonad w behavioral problems Klinefelter [if hypogonad and nml stature w inability to smell=Kallmann]
hepatomegaly, irritable, vomitting labs show low glu and acidosis…think GSD1 (look for metab acid, incrs NH3)
baby low tone, hepatomegaly, cardiomegaly Pompes
odor of rotten fish-which IEM? How dx? tyrosinemia (dx by succinylacetone in urine)
lactic acidosis and apparent strokes MELAS (mitochondrial)
incrsd NH3, cardiomyopathy--dx? How dx? fatty acid IEM, dx by acyl carnitine
ddx for hypogly, acidosis, ketosis: other features and how test ea GSD1 (hepatomegaly, glu 6 phosph activity), maple syrup urine (hi NH3 and branched aa in urine), alkpatonuria (hi NH3, homogentist)
hi NH3 ddx for IEM 1) if nml glu think urea cycle (OTC, dx by urine orotic acid), 2) if acidosis, hypogly, ketosis=maple syrup urine or alkpatonuria, 3) if no ketones but hypogly=fatty acid, 4) if gout, kidney problems, biting=LeschNyhan (dx HGPRT)
hepatomegaly, hypogly, and jaundice--think which IEM galactosemia
hepatomegaly, hypogly, metabolic acid--think which IEM GSD1,2
hepatomegaly and low plts--which IEM Gaucher (w Erlenmeyer flask bones)
sz, cherry red macula--which IEM and how difft Tay Sachs (hyperacusis, macrocephaly), Nieman Pick
stiff joints, frontal bossing--which IEM Hurler (corneal clouding), Hunter (hearing loss)
difftl for 3yo who goes to day care who gets diarrhea if URI=rota, if vomit=Norwalk, if watery=E Coli, if smelly=Giardia, if bloody=Shigella
diarrhea s/p food poisonin EHEC (if HUS don't give Abx), Salmonella (24-48h no tx if non invasive), C perfringens=crampy abd pain
newborn w hearing loss and jaundice--TORCH? CMV (intracranial Ca++ periventricular), rubella (hepatomegaly, cataracts) [[syph also has hearing loss]]
newborn w purpural type rash CMV and rubella
newborn w poor feeding, tone, coarse facial features, mottled skin hypothyroid
when do you get a UA and Ucx in child w F? if <6mo male circ, <1yo if male uncirc, if <2yo in all girls
walking, immature pincer, waves goodbye, says mama and dada but not specific 9-12 (9=immature pincer, wave, non specific mama/dada)
rolled over, social smile, cooing, reaching for objects 2-4 (2=social smile, cooing, 4=roll over and reaching for objects)
tower of 6 cubes, 50% inteligible, walking up/down stairs by self 18-24mos (18=stairs, 24=50% inteligible, tower of 6 cubes)
drinks from cup, kicking ball, 2 word phrases 12-18mos (12=drink cup, 18=2 word phrases, kick ball)
laugh, push up chest 4mos
babbles, trxrs objects bw hands 6mos
20-50 words 18mos
indicate wants, immature pincer, waves 9mos
phrases 2-3 connected words, obeys 2 step commands, walks up and downstairs w/o help, builds tower of 6 blocks and turns pages of bks 2yo
obeys 2 step commands, walks up and downstairs w/o help, 2yo
eyes cross midline, slight awareness of caregiver 4mos
feed self, knows parent v nonparent 6mos
points for requests, helps dress, may offer toy to mirror, pincer for cereal 12mos
knows body parts, imitate house tasks, use words for wants and needs 18mos
fine motor: when start reaching for objects 4-5 mos
fine motor: when start transferring objects bw hands 6-7 mos
fine motor: when use immature pincer (small object bw thumb and fore finger) 9 mos
when functional play? Imaginative play? functional play ~1yr (use telephone as phone), imaginative play (use stick as phone) ~ 2yrs
when object permanence 9 mos
draw circle 3yo
draw cross and square 4yo (think of the 4 lines)
hop 4yo
draw triangle 5yo (tricky! 3 lines, but do at older age)
understand 3/4 of their words, rides tricycle 3yo
components of APGAR appearance (blue to pink), pulse, Grimace, activity (muscle tone), respir
name scale for A,P,G on APGARs Appearance: 0=blue, 1=blue extrem, 2=pink; Pulse: 0=none, 1<100, 2>100; Grimace: 0=no response to catheter in nose, 1=grimace, 2=cough, sneeze or cry
name scale for A(Activity) and R (Respir) on APGARs Activity: 0=limp, 1=some flexion, 2=active motion; Respir: 0=absent, 1=slow, irreg, 2=good crying
give APGAR for: HR 90, RR 15 irreg, cry on catheter in nose, moving all extremities, blue extremities APGAR: 1,1,2,2,1=7
Created by: ehstephns on 2010-12-26



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