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Peds Flashcards

1
Q

Microcephaly, hand-wringing

A

Rhett

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2
Q

Normal until 2-4y/o –> declining motor, social fxn

A

Disintegrative

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3
Q

Complications of prematurity

A

IVH, RDS, PDA, NEC, bronchopulmonary dysplasia, retinopathy

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4
Q

Small for gestational age complications

A

Hypoxia, asphyxia, meconium asp, hypOthermia, glycemia, Ca, polycythemia

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5
Q

Large for gestational age complications

A

Hip subluxation, talipes calcaneovalgus

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6
Q

Metaphyseal corner fx, rib fx

A

Abuse

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7
Q

Benefits for mom of breastfeeding

A

Return to weight, dec bleeding, dec OVARIAN & BREAST CA,

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8
Q

CI to breastfeeding

A

TB <2wks tx, HIV, Herpes, VZV w/in 2 days, chemo, etOH, drugs & Galactosemia in baby

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9
Q

Mom w/ influenza & breastfeeding

A

If febrile –> PUMP

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10
Q

Benefits for infant of breastfeeding

A

Immunity, GI fxn, LESS gastroenteritis, otitis media, resp illness, UTI, NEC, DM-I, cancer

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11
Q

Normal weight loss for infant

A

add formula if >7%

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12
Q

1 cause of FTT

A

Inorganic - no parent/child bond; usually WEIGHT issue

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13
Q

12 months height and weight

A

weight triple, height inc by 50%

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14
Q

3 wks old, Crying same time everyday, 3hrs per day

A

Infantile colic - resolves by 4mo

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15
Q

Bed-wetting normal ages

A

<5y/o, boys longer than girls

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16
Q

Newborn screens

A

Hypothyroid, PKU, galactosemia, anemia, CF

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17
Q

Age to toilet train

A

1-2y/o (bowel control 2mo, bladder 32mo)

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18
Q

Early hand dominance

A

weak opposite

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19
Q

6-18mo, angry, crying –> LOC w/ resolution and no post-ictal or incontinence

A

Breath holding spell = reassurance, r/o anemia

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20
Q

Male 1st sign (9-14)

A

Testes enlargement

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21
Q

Females 1st sign (7-13)

A

Thelarche/breasts @ 9.5 or pubic hair –> menarche 12.5

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22
Q

Stage 4 tanner

A

Hair covers pubic

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23
Q

Stage 5 tanner

A

Hair on medial thighs

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24
Q

Pre-mature thelarche

A

Common, benign - isolated breast development <7 y/o

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25
Q

Pre-mature adrenarche

A

only axillary hair = No Tx

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26
Q

Pre-mature pubarche

A

pubic hair b4 8 y/o = primary CNS disorder

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27
Q

Rapid, breast/testes, hair growth 1st step

A

MRI - infection, hydro, CP, glioma, hamartoma

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28
Q

GnRH stim test –> INC INC LH + tall, adv bone age, breast, pubic hair, menses

A

Central precocious puberty

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29
Q

Boys gynecomastia, NO testes enlargment

A

Peripheral precocious puberty

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30
Q

Boys causes of precocious puberty

A

Leydig (asymmetric testes), CAH, B-hCG, McCune-Albright

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31
Q

Girls virilization

A

Peripheral precocious puberty (ovarian, CAH, McCune)

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32
Q

Girl breast devel, café-au-lait, fibrous dysplasia of long bones –> fx, moonlike facies

A

McCune-Albright = peripheral precocious puberty

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33
Q

Dec FSH, LH, T, estradiol

A

Hypogonadotropic hypogonadism

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34
Q

Hypogonadotropic hypogonadism causes

A

Hypopituitary, thyroid, prolactinoma, Kallman, Prader, Lawrence-Mean-Biedl

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35
Q

Inc FSH, LH, Low T, estradiol

A

Hypergonadotropic hypogonadism

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36
Q

Hypergonadotropic hypogonadism causes

A

Klinefelter, Turner, auto-immune

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37
Q

Leydig cell fxn

A

T –> wollfian ducts

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38
Q

Sertoli cell fxn

A

AMH inhibits mullerian

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39
Q

Inc BF and nuclide uptake in testes

A

Epididymitis

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40
Q

Tx DUB and anemia

A

Pelvic exam + OCPs

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41
Q

Risks w/ teen pregnancy

A

Inc HTN, anemia, pre-term, STDs, LBW, welfare

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42
Q

Normal for occasional masturbation, “playing doctor,” asking about reproduction, cross-dressing

A

ABNORMAL = excessive sexual talk, simulating foreplay or intercourse, large knowledge

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43
Q

Loss of Maternal ubiquitin-protein ligase gene

A

Angleman

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44
Q

“Happy puppet,” MR, ataxia, small wide head, large mouth, blonde

A

Angleman

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45
Q

Hypotonia, poor feeding –> overeating, obesity

A

Prader-willi

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46
Q

Almond eyes, fish mouth, FTT –> obese, MR, hypogonad, OSA, DM, gastric rupture, choking

A

Prader-willi = deletion of Paternal 15q11-q13

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47
Q

Inc AFP

A

NTDs, multiple gest, wrong date, abd wall, demise

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48
Q

Dec AFP

A

Wrong date, Trisomy, IUGR

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49
Q

Dec AFP, dec estriol, INC B-Hcg, Upslanted eyes, simian crease, flat facies

A

DOWN

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50
Q

AA laxity, celiac, alzheimer, OSA, hypothyroid, DM-I, cataracts, ALL

A

DOWN

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51
Q

Heart defects in Down

A

Complete septal > VSD > ASD

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52
Q

GI defects in Down

A

Duodenal atresia, pyloric stenosis, hirschsprungs

53
Q

Dec all AFP, estriol, b-hcg, Horseshoe kidney, omphalocele

A

Trisomy 18 (Edward) = VSD

54
Q

3x female, hypERtonia –> scissor LE, clenched hands, rocker-bottom feet, low ears, micrognathia

A

Trisomy 18 (Edward) –> death by 1/yo

55
Q

Holoprosencepahly, microophthalmia, microcephaly, cleft lip, polydactyly

A

Trisomy 13 = midline –> death by 1y/o

56
Q

MR, microcephaly, large pinnae, testicles, hypotonia, CGG repeats, FMR1 gene

A

Fragile X

57
Q

1 cause of MR in males

A

Fragile X

58
Q

Webbed neck, sheild chest, lymphedema hands & feet neonatal, Left heart lesions, coarctation

A

Turner (45XO)

59
Q

Turner syndrome at risk for?

A

Osteoporosis, coarctation, aortic valve abn/bicuspid, horseshoe kidney, lymph dysgenesis

60
Q

Male hypogonadism, infertility, gynecomastia, anti-social

A

Klinefelter (47XXY) –> testosterone

61
Q

Very tall, severe acne, anti-social –> incarcerated

A

Double YY male 47, XYY

62
Q

Chr 15, fibrillin, Dec U/L segment ratio, Upward lens sublux, MVP

A

Marfan –> BBs, avoid HTN & contact sports

63
Q

VSD, tetrology or truncus, abnormal facies, no thymus, cleft palate, seizures-hypoCa

A

Digeorge & velocardiofacial (CATCH-22)

64
Q

Type V collagen, hypermobile joints, scoliosis, tissue paper skin, MVP, aortic dil

A

Ehlers-Danlos

65
Q

Type I collagen, knock-knees, yellow, gray-blue teeth, hearing loss

A

Osteogenesis imperfecta

66
Q

“Cocktail personality, Elfin facies,” Del chr7, supravalvular AS, HIGH Ca, hoarse

A

Williams syndrome = supravalvular AS

67
Q

1 eyebrow, short, small hands, feet, self-destructive

A

Cornelia de Lange

68
Q

Short, skeletal limb asymmetry, excessive sweaing, café-au-lait

A

Russell-Silver

69
Q

Micrognathia, glossptosis, cleft lip/palate, recurrent otitis, upper airway block

A

Pierre-Robin

70
Q

Hypopigmented macules, kidney angiolieomyomas, hamartomas, MR, ADHD, cardiac rhabdomyomas

A

Tuberous sclerosis = adenoma sebaceum

71
Q

Café-au-lait, axilla freckles, Lisch nodules on iris, macrocephaly, feeding problems, learning disabilities

A

Neurofibromatosis-1 –> tumors

72
Q

B/L acoustic neuromas, cataracts

A

NF-2

73
Q

Sequelae of Sturge-Weber

A

AVMs, seizures, hemiparesis

74
Q

1 deafness + pigment chg, white forelock, heterochromia irides

A

Waardenburg

75
Q

Malarhypoplasia, micrognathia, abn ears

A

Treacher-Collins

76
Q

MACROglossus/macrosomia, hypothyroid, hemihyperplasia, umbilical hernia or omphalocele, hyperinsulinemia

A

Beckwith-Wiedman –> US & AFP for Wilms and hepatoblastoma tumors

77
Q

B/L renal agenesis –> oligohydramnios –> limp hypoplasia/clubbing, flat facies, pulmonary hypoplasia/RDS

A

Potter sequence - Posterior urethral valves = #1 UT obstruction

78
Q

Obese, retinitis pigmentosa, polysyndactyl

A

Lawrence-Mean-Beidl

79
Q

Hypertelorism, B/L epicanthal folds, high palate, flat nose, protruding metopic, cat cry

A

Cri-du-chat (deletion of 5p)

80
Q

Blind, heart block, mitchondrial

A

Kerns-Sayre

81
Q

Rapid MR & motor retardation

A

Sanfilippo

82
Q

NO MR, scoliosis

A

Marquio

83
Q

Behavior, tremors, dysarthria, dec ceruloplasmin

A

Wilson dz –> NO nuts, liver, shellfish, choc + PENICILLAMINE

84
Q

Self-mutilation, hypotonia, persistent vomiting, MR, chorea, gout, uropathy

A

Lesch-Nyhan = HGPRT

85
Q

Mousy/musty, eczema, blonde hair and blue eyes, + blood test OR Guthrie urine test

A

PKU = dec phenylalanine hydroxylase –> need TYROSINE

86
Q

a-galactosidase A –> inc ceramide trihexoside –> severe neuropathic limb pain, telangiectasias, MI, stroke

A

Fabry’s disease - inc thromboembolic events

87
Q

Galactosylceramide –> galactocerebroside –> progressive neurodegen, deaf, blind, MR, paralysis, death by 3

A

Krabbe

88
Q

GLUcocerebrosidase, erlenmeyer flask femur, splenomegaly, “crinkled paper,” anemia, thrombocytopenia

A

Gaucher’s = #1

89
Q

Spingomyelinase, ataxia, HSM, hypotonia, cherry-red macula, regression of milestones

A

Niemann-Pick

90
Q

Hexosaminidase A, inc startle d/t hyperacusis, MR, cherry-red macula, inc head circumference

A

Tay-Sachs

91
Q

Arylsulfatase A –> sulfatide –> demyelination –> ataxia, seizures, dementia

A

Metachromatic leukodystrophy

92
Q

a-1-Iduronidase, frontal bossing, thick nose, dermatan & heparin sulfates urine, CORNEAL CLOUDING

A

Hurler

93
Q

Iduronate sulfatase, XR, NO corneal clouding, hearing loss, inc stiff joints

A

Hunter

94
Q

Glucose 6-P, hypoglycemia, hepatomegaly, high TAGs, uric acid, lactate, HCC, big belly and face, thin limbs

A

Von Gierke’s

95
Q

a-glucosidase/acid maltase, weakness “floppy baby,” cardiomegally, marcoglossia

A

Pompe’s disease

96
Q

Branched chain A.A. - ILV

A

Maple syrup urine

97
Q

Sweaty feet

A

Isovaline, glutamic acid

98
Q

Rotten cabbage –> HCC

A

Tyrosinemia

99
Q

Marfanoid, W/O arachnodacyl, DOWN lens sublux, NO aortic dil, hypercoag –> stroke sx

A

Homocystinuria - inc methionine in urine or +CN nitroprusside

100
Q

Deficiency in homocustinuria

A

Cystathione synthatase deficiency –> VitB6 or dec methionine and + cysteine

101
Q

Dec renal reabs of cystine, lysine, arginine, ornithine

A

Cystinuria

102
Q

Neutral A.A, intermittent ataxia, photosensitive rash, MR, emotional

A

Hartnup

103
Q

Cyclic vomiting, ataxia

A

OTC deficiency = #1 urea

104
Q

G-1-P uridyltransferase, hypoglycemia + hepatomegaly, jaundice, EC sepsis, B/L cataracts

A

Galactosemia

105
Q

Start of milk –> V/D/FTT, oil-droplet cataracts, RTA, ovarian failure

A

Galactosemia –> SOY

106
Q

F-1-P aldolase B, LOW hypoglycemia, V/D/FTT

A

Fructose intolerance

107
Q

Fasting –> non-keto hypoglycemia, hyperammonemia, medium chain acyl-CoA

A

Fatty acid oxidation –> carnitine supplement

108
Q

Screening lead level >10ug next step?

A

Serum lead level to confirm

109
Q

Tx lead 10ug/dl

A

Recheck 45

110
Q

Sx w/ iron toxicity

A

Acute - anorexia, lethargy, V –> dev delay, MR

111
Q

Avoid w/ ipecac

A

corrosives (alkali) –> perf

112
Q

1st step in alkali ingestion

A

Ensure airway –> Upper endoscopy

113
Q

ASA toxicity tx

A

Acetazolamide + IV NaHCO3

114
Q

Oculogyric crisis, torticollis, tremors, EPS

A

Phenothiazine toxicity –> benadryl

115
Q

Prolonged QRS, seizure, hypotension

A

TCA OD –> sodium bicarb

116
Q

Bloody V, D, cardio collapse

A

Fe toxicity –> deferoxamine (red pee)

117
Q

Abd pain, N/V, hematemesis, opacity in stomach, metabolic acidosis + resp alkalosis

A

Iron toxicity –> whole-bowel irrigation, Deferoxamine,

118
Q

Clues to substance abuse

A

Mood/sleep, dec school, appetite, inc truancy

119
Q

Battery ingestion management

A

Esophagus = endoscopy; stomach and beyond = observe

120
Q

Greenish, foul vaginal discharge, foreign body, step father 1st step

A

Irrigation w/ warm water –> extract under general anesthesia

121
Q

Pre-Me, breast milk, 2mo supplementation

A

Iron (until 1yr) + Vit D

122
Q

Juice guidelines

A

4-6oz after 6mo, never in bottle, generally NOT recommended

123
Q

Normal age for vaginal bleeding in infant?

A

<3mo

124
Q

Single S2, egg on a string, severe cyanosis

A

Transposition –> PGE1 to keep PDA open

125
Q

Fixed slit S2

A

ASD

- primum = also mitral valve dz

126
Q

Hearing loss, syncope, no disorientation or incontinence, normal vitals and exam, fam hx of death from heart condition

A

Prolonged QT

127
Q

CHARGE

A 
Coloboma
Heart
Atresia of choanae
Retardation of growth
Genital and urinary defects
Ear anomalies/deafness
128
Q

VACTERL

A 
Vertebral
Anal atresia
Cardio
TE fistula
Esophageal atresia
Renal
Limb

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