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PedsUSMLE1
| Question | Answer |
|---|---|
| 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
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