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ABP Review Selena > ABP Review Selena > Flashcards

ABP Review Selena Flashcards

1
Q

Varicella vaccine storage temp

A

-15C (<5F)

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2
Q

Darier sign

A

Localized erythema and urticarial wheals after stroking/rubbing (associated with Urticaria pigmentosa, due to histamine from mast cells)

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3
Q

Utility of 17-hydroxyprogesterone for endo work up

A

Evaluate for CAH

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4
Q

Perioral dermatitis

A

Inhalant use

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5
Q

X-ray: small radiolucency at the articular surface that progresses to well demarcated segment of subchondral bone with a line of lucency separating it from the chondyle

A

Osteochondritis dissecans

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6
Q

X-ray: small radiolucent nidus (<2cm) surrounded by sclerotic bone

A

Osteoid osteoma

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7
Q

Workup for premature adrenarche

A

Testosterone, DHEAS, androstendione, 17-hydroxyprogesterone

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8
Q

School exclusion for positive Hep A

A

7 days of symptom onset

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9
Q

X-ray: moth-eaten destructive lesions

A

Ewing sarcoma

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10
Q

X-ray: Codman triangle associated with radial or sunburst pattern

A

Osteosarcoma

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11
Q

Skin findings in NF1

A

Axillary or inguinal freckling and cafe au lait spots

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12
Q

X-ray: bony spur (cauliflower like) that arises from the surface of the cortex and points away from the joint

A

Osteochondroma

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13
Q

Transient myeloproliferative disorder (transient leukemia)

A

Associated with trisomy 21 + scattered vesiculopustular lesions

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14
Q

Percentage of blasts in the bone marrow is lower than that of peripheral blood

A

Transient myeloproliferative disorder (transient leukemia) as opposed to acute megakaryoblastic leukemia

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15
Q

Features of NF1

A

Axillary/inguinal freckling, cafe au lait spots, Lisch nodules (iris hamartomas), neurofibromas, optic glioma, osseous lesion (sphenoid dysplasia or bowing of the long bone cortex w or w/o pseudoarthrosis)

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16
Q

Inheritance pattern of NF1

A

Autosomal dominant

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17
Q

Location of NF1 gene

A

Long arm of chromosome 17

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18
Q

Complications of NF1

A

HTN (neurofibromas in renal artery)
Vision loss (optic glioma, hamartomas)

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19
Q

Associations of retinal hemorrhages

A

Glutaric Acidemia Type 1
Menkes Disease
Abusive Head trauma

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20
Q

IEP qualifications

A

Age 3-21 +
Intellectual/Learning Disability
Multiple disabilities
Hearing impairment/deafness
Visual impairment/blindness
Speech/language impairment
Orthopedic impairment
Other health impairment
TBI
ASD
Age 3-9 + developmental delay

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21
Q

Features of Caffey disease (infantile cortical hyperostosis)

A

Irritability
Fever
Soft tissue swelling
Underlying hyperostosis on x-ray (thickening and bony expansion due to periosteal inflammation and new bone formation)

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22
Q

Hydrocortisone dose for stress dosing

A

Hydrocortisone 100mg/m3

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23
Q

Most commonly affected bone in Caffey disease (infantile cortical hyperostosis)

A

Mandible (95% of cases)
Ulna, rib, scapula, skull, ilium

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24
Q

Wolfram syndrome associations

A

Central DI, DM
Optic atrophy and deafness

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25
Q

Causes of pharyngitis in adolescents

A

Group A strep
EBV
Arcanobacterium haemolyticum
Group C and Group G strep
Gonorrhea

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26
Q

Sleep time recommendations

A

4-12 months: 12-14hrs
1-2 years 11-14 hours
3-5 years: 10-13 hrs
6-12 years: 9-12 hours
13+ years 8-10 hours

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27
Q

Features of congenital hypothyroidism

A

Prolonged jaundice
Poor feeding/large tongue
Protuberant abdomen/umbilical hernia
Widely open fontanelles
Constipation

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28
Q

Dose for treatment of congenital hypothyroidism

A

Levothyroxine 10-15mcg/kg/day

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29
Q

Presentation of acute cerebellar ataxia of childhood

A

Ataxia (duh), hypotonia, tremor, horizontal nystagmus, dysarthria

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30
Q

Presentation of brainstem glioma

A

Difficulty speaking
Facial droop
Cross eyes

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31
Q

Presentation of medulloblastoma

A

Morning headache
Vomiting
Lethargy
Ataxia

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32
Q

Classic triad for prune belly syndrome

A

Undescended testes
GU anomalies
Partial aplasia or hypoplasia of abdominal musculature

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33
Q

Morbidity/mortality associations of prune belly syndrome

A

Renal abnormalities —> oligohydramnios
Oligohydramnios —> hypoplastic lungs

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34
Q

VACTERL features

A

Vertebral defects
Anal atresia
Cardiac defects
TE fistula
Renal anomalies
Limb abnormalities

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35
Q

Acrodermatitis enteropathica

A

Zinc deficiency

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36
Q

Simple febrile seizures

A

<15mins
No recurrence in 24hrs
Generalized
Fever present

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37
Q

Complex febrile seizures

A

> 15mins
1 episode in 24hrs
Focal symptoms

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38
Q

Ghent criteria
(Clinical diagnostic criteria for Marfan syndrome)

A

2 of major criteria
Ectopia lentis
Aortic dilation or dissection
Family history

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39
Q

Bacteria associated with erysipelas

A

Group A betahemolyti strep

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40
Q

Most common trigger for asthma

A

Viral URI

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41
Q

Most common cause of infant mortality 1mo-1yr

A

SIDS

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42
Q

Findings in leukocyte adhesion deficiency

A

Delayed separation of cord
Chronic gingivitis
Failure to thrive
Recurrent bacterial and fungal infections

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43
Q

90% of infants can voluntarily grasp rattle

A

5 months

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44
Q

Steroid limitation for MMR or varicella vaccination

A

> 2mg/kg/day or >20mg/day of prednisone for >2 weeks
Can be given after 1 month of discontinuation of treatment

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45
Q

Non-steroid contraindications to varicella vaccine

A

Severe allergic reaction
Severe immunosuppression
Pregnancy (or possibility within 4 weeks
Recent immunoglobulin administration

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46
Q

Orthopedic findings in Marfan syndrome

A

Scoliosis
Arachnodactyly
Pectus deformities
Flat feet
Hammer toes

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47
Q

Eye findings in Marfan syndrome

A

Lens dislocation
Myopia
Early-onset glaucoma

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48
Q

Cardiac findings in Marfan syndrome

A

Aortic regurgitation
Mitral valve prolapse
Dilation of aortic root

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49
Q

Inheritance of Marfan syndrome

A

Autosomal dominant

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50
Q

Location of gene mutation of Marfan syndrome

A

Chromosome 15 (glycoprotein fibrillin-1 gene)

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51
Q

Autoimmune hepatitis type 1 vs type 2

A

Type 1: 10-20 yr old F, ANA, antismooth muscle Ab positive, can remit and get off immunosuppression
Type 2: Younger children, more severe, anti-LKM positive, immunosuppression indefinitely

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52
Q

CHARGE syndrome

A

Coloboma
Heart disease
Atresia choanae
Restricted growth and development
Genital anomalies
Ear anomalies and/or deafness

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53
Q

Treatment of reactive arthritis

A

NSAIDs for 2-4 weeks

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54
Q

Triad of reactive arthritis

A

Conjunctivitis, urethritis, arthritis

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55
Q

Most common presentation of tularemia

A

Ulceroglandular syndrome
Presentation: fever, chills, headache, myalgia, malaise

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56
Q

Extrahepatic manifestations of Hep B

A

Symmetrical polyarthralgia or arthritis
Macular or urticarial rashes
Thrombocytopenia

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57
Q

Diseases associated with Hep B

A

Papular acrodermatitis (Gianotti-Crosti syndrome)
Polyarteritis nodosa
Glomeronephritis

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58
Q

Lab findings of DIC

A

Thrombocytopenia
Prolonged PT/PTT/INR

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59
Q

Clinical description for osteoid osteoma

A

Severe progressive pain
Worse at night
Unrelieved by acetaminophen
Improves with NSAIDs

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60
Q

Difference between RotaTeq vs Rotarix

A

RotaTeq: live, oral human bovine pentavalent, 3 dose series, dosing tube is latex free
Rotarix: live, oral human attenuated monovalent, 2 dose series, latex rubber present in oral applicator

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61
Q

Findings of congenital rubella

A

Growth restriction
Sensorineural hearing loss
Developmental delay
PDA with pulmonic stenosis

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62
Q

Findings of congenital syphilis

A

Frontal bossing, Saddle nose, interstitial keratitis
Hearing loss, Hutchinson teeth, gummas
Intellectual disability, anterior bowing of shins

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63
Q

Findings of congenital varicella

A

Cicatricial skin scaring
Cataracts
Chorioretinitis
Microphthalmos
Nystagmus
Hypoplastic bone and muscle of the limbns
Seizures and intellectual disability

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64
Q

Work up for suspected testicular cancer

A

1st: Testicular ultrasound
Labs: beta hcg, alpha fetoprotein, LDH

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65
Q

Airborne precautions

A

Standard
Private room with negative pressure ventilation
N95

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66
Q

Measles precautions

A

Airborne precautions

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67
Q

Inheritance pattern of Wiskott-Aldrich syndrome

A

X-linked recessive

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68
Q

Triad of Wiskott-Aldrich syndrome

A

Thrombocytopenia
Eczema
Infections with encapsulated bacteria and opportunistic infections

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69
Q

Cardiac distinction between Noonan and Turner

A

Noonan: Pulmonary valve stenosis
Turner: Biscuspid or aortic coarctation

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70
Q

Disease associated with Darier sign

A

Systemic mastocytosis

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71
Q

Liver disease associated with UC

A

PSC (Primary sclerosing cholangitis)

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72
Q

Diagnostic imaging for PSC

A

MRCP

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73
Q

Pulmonic ejection click, heard on LUSB
Split S2, short medium pichted systolic ejection murmur

A

Pulmonary valve stenosis

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74
Q

Characteristics of night terrors

A

Non-REM sleep
Age 3-12 (peak 2-7yrs)
Abrupt awakening
Facial flushing, tachycardia
No recollection of event
Does not respond to soothing/calming

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75
Q

Flesh colored, smooth lesion protruding from vagina

A

Hymenal tag

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76
Q

Risk factor for renal vein thrombosis

A

Perinatal asphyxia

Others: septic shock, dehydration, congenital hypercoagulable states, maternal diabetes

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77
Q

Presentation of RVT (renal vein thrombosis)

A

Sudden onset gross hematuria
Unilateral or bilateral flank mass
Hypertension
Decreased urine output
Thrombocytopenia

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78
Q

Findings in Peutz-Jeghers syndrome

A

Painless rectal bleeding
Freckling of lips

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79
Q

Inheritance of Peutz-Jeghers syndrome

A

Autosomal dominant

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80
Q

Treatment of PJP (PCP)

A

TMP-SMX + Steroids

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81
Q

Patients that need treatment for Salmonella

A

<3months
Immunosupressive illnesses
Hemoglobinopathies
Malignancies
Chronic GI disorders

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82
Q

If treatment for Salmonella needed, which Abx?

A

Azithromycin
Amox or TMP/SMX if susceptibilities are available

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83
Q

Causes of Salmonella

A

Food: poultry or beef
Pet reptiles and amphibians (turtles, iguanas, lizards)

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84
Q

Phimotic foreskin trapped behind the coronal sulcus

A

Paraphimosis

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85
Q

Inability to pull back foreskin

A

Phimosis

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86
Q

Inflammation of the glans penis and foreskin in uncircumcised males

A

Balanoposthitis

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87
Q

Inflammation of the glans penis only

A

Balanitis

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88
Q

Findings on neuroblastoma

A

Presents within the first 5 years of life
Periorbital metastasis: Raccoon eyes (periorbital ecchymosis and proptosis)
Diarrhea (due to VIP secretion
Abdominal mass

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89
Q

Neonatal lupus erythematosus findings

A

Congenital heart block
Discoid or annual skin lesions
Periorbital erythema
Scaly atrophic patches
Telangiectasia

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90
Q

Lab testing for juvenile dermatomyositis

A

CK (creatine kinase)

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91
Q

Diagnostic criteria for juvenile dermatomyositis

A

Symmetric proximal muscle weakness
Heliotrope dermatitis
Gottron papules
Elevation of one or more muscle enzymes:
LDH, CK, AST, ALT, aldolase
Evidence of denervation and myopathy on EMR
Necrosis and inflammation on muscle biopsy

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92
Q

Idiopathic hypercalciuria

A

Gross or microscopic hematuria and elevated (>0.2) spot urine calcium/creatinine ratio

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93
Q

Testicular volume by SMR

A

Before puberty: <4ml
SMR 2: 4-8mL
SMR 3: 8-12mL
SMR 4: 12-20mL
SMR 5: ~20mL

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94
Q

Peak height velocity mean age / SMR stages

A

Boys: 13.5 years (SMR 3-4)
Girls: 11.5 years (SMR 2-3)

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95
Q

Most common presentation of neonatal cerebral infarction

A

Focal seizures

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96
Q

Med that decreases renal clearance of lithium

A

NSAIDs

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97
Q

Cause of metatarsus adductus

A

Intrauterine crowding

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98
Q

C3/C4 differences in renal diseases

A

Postinfectious GN: Low C3, normal C4
IgA nephropathy: Normal C3
Lupus and MPGN: low C3, low C4

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99
Q

Scarlet fever findings

A

Scaraltiniform rash
Sandpaper like rash
Rash spares circumoral area, palms and soles

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100
Q

Clonidine toxicity

A

CNS and respiratory depression
Hypotension, bradycardia, pinpoint pupils

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101
Q

Dejerine-Klumpke palsy
C8-T1 brachial plexus injury (shoulder dystocia)

A

Claw hand (paralysis of intrinsic muscles of the and long flexors or the wrist and fingers)
Ipsilateral horner syndrome (miosis, ptosis anhidrosis)

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102
Q

Erb palsy
C5-C6 injury (shoulder dystocia)

A

Waiters tip (shoulder adduction and internal rotation, elbow extension, forearm pronation, wrist flexion)

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103
Q

Treatment for nasal septal hematoma

A

Immediate drainage of hematoma
Nasal packing + broad abx with staph coverage
Close ENT follow up

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104
Q

Pointed chin, butterfly vertebrae, heart murmur, jaundice

A

Alagille syndrome

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105
Q

Diagnostic test to confirm Alagille syndrome

A

Liver biopsy (confirm paucity of bile ducts)

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106
Q

Inheritance pattern of Shwachman-Diamond syndrome

A

Autosomal recessive

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107
Q

Characteristics of Shwachman-Diamond syndrome

A

Pancreatic insufficency
Neutropenia (chronic, intermittent or cyclic)
Bifid thumbs
Thoracic dystrophy
+/- anemia and thrombocytopenia

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108
Q

Langerhans cell histiocytosis histo findings

A

Birbeck granules (Rod and tennis racquet-shaped structures within the cytoplasm on electron microscopy)

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109
Q

Treatment for subluxation of radial head “Nursemaid’s elbow”

A
  1. Supination of forearm with elbow flexed and applying downward pressure over radial head followed by fully flex the arm at the elbow
  2. Firm hyperpronation at the wrist with extension
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110
Q

Most common cause of subdural hematomas in infants

A

Child abuse

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111
Q

Findings in vitamin C deficiency

A

Follicular hyperkeratosis, perifollicular hemorrhage, petechiae, ecchymoses, gingivitis, arthralgia, anemia, impaired wound healing.

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112
Q

Follicular hyperkeratosis, perifollicular hemorrhage, petechiae, ecchymoses, gingivitis, arthralgia, anemia, impaired wound healing.

A

Vitamin C deficiency

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113
Q

Inheritance pattern of Hemophilia A

A

X linked recessive

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114
Q

Cause and findings of hemophilia A

A

Factor 8 deficiency
Easy bruising, hemarthrosis, bleeding due to oral injury or after invasie procedure

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115
Q

Use mama / dada specifically, 1-2 words

A

12 months

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116
Q

Rise independently, stand alone, take several steps without assistance

A

12 months

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117
Q

Use mature pincer grasp well

A

12 months

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118
Q

Walks well

A

15 months

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119
Q

Sits with support

A

6 months

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120
Q

Raking grasp

A

6 months

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121
Q

Babbles with consonants (baba/dada)

A

6 months

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122
Q

Male effects of chronic cannabis use

A

Decreased libido
Decreased sperm count and motility
Impotence
Gynecomastia

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123
Q

Body percentage for SJS vs TEN

A

SJS: <10%
TEN >30%

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124
Q

DSM-5 criteria for anorexia nervosa

A
  1. Disturbancd about weight/shape
  2. Restrict energy intake leading to low body weight
  3. Intense fear of gaining weight or behavior that interferes with weight gsin
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125
Q

Inheritance pattern of Wilsons disease

A

Autosomal recessive

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126
Q

Kayser-Fleischer rings

A

Wilson disease

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127
Q

Presentation of Wilsons disease

A

Psych symptoms
Elevated AST, ALT, bilirubin

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128
Q

Inheritance pattern of Smith-Lemli-Opitz syndrome

A

Autosomal recessive

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129
Q

Microcephaly with narrow bifrontal diameter, broad nasal tip with antevrrted nares, hypertelorism and ptosis, cleft palate and micrognathia, low set ears, abnormal digits, hypospadias or ambiguous genitalia

A

Smith-Lemli-Opitz syndrome

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130
Q

Pathophysiology of Smith-Lemli-Opitz syndrome

A

Cholesterol metabolism
(Deficiency of 7-dehydrocholesterol reductase causing high 7-dehydrocholesterol and low total plasma cholesterol)

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131
Q

Full cheeks with sagging jowls and lips, sparse eyebrows and hair. Rare cause of subdural hematoma and retinal hemorrhage

A

Menkes disease

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132
Q

Inheritance pattern of Tay Sachs

A

Autosomal recessive

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133
Q

Cherry red spot on retina

A

Tay Sachs
Deficiency of beta-hexosamidase

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134
Q

Motor dysfunction similar to CP, behavior disturbances and self mutilation

A

Lesch-Nyhan syndrome
X-linked
HGPRT deficiency

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135
Q

Ocular difference between Marfan and homocystinuria

A

Marfan: UPWARD lenses subluxation

Homocystinuria: DOWNWARD lens subluxation

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136
Q

Distinction between Marfan and homocystinuria

A

Homocystinuria has ID, psych illness, thinning of light skin, livedo reticularis, propensity for vascular thrombosis

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137
Q

Seizures, ID, microcephaly, ataxia, hand-flapping “happy puppet”

A

Angelman syndrome

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138
Q

Periorbital fullness with prominent, down-turned lower lip, friendly “cocktail party” personality, strabismus, stellate pattern of iris, supravalvular aortic stenosis

A

Williams syndrome

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139
Q

Cleft palate, ear abnormalities, thymus agenesis or hypoplasia, parathyroid gland hypoplasia or agenesis (hypocalcemia), cardiac anomalies (TOF > interrupted aortic arch > VSD > truncus arteriosus)

A

DiGeorge syndrome

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140
Q

Empiric treatment for toxic shock syndrome

A

Clindamycin + vancomycin

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141
Q

Qualifications for 504plan

A

Provide resources for physical or emotional impairments while remaining in regular classroom (ramps, visual/hearing accommodations, administration of meds during the day, nursing for complex medical needs, additional testing time)

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142
Q

Natal teeth truths

A

Most are prematurely erupting deciduous teeth
Do not need early extraction
Rarely associated with genetic syndromes

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143
Q

Pierre Robin sequence triad

A

Micrognathia, glossoptosis, airway obstruction

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144
Q

2 most common syndromes associated with Pierre Robin Sequence

A

Stickler syndrome and 22q11.2 deletion syndrome

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145
Q

Test to distinguish between urea cycle disorder vs organic acidemia

A

Urine organic acids

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146
Q

Antipsychotics approved for aggressive behavior in children with ASD

A

Risperidone and aripiprazole

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147
Q

Inheritance pattern of HCM

A

Autosomal dominant

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148
Q

Causes of ACS in children with SCD

A

Infection, infarction, atelectasis or fat embolism from the bone marrow

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149
Q

Kallman syndrome diagnostic criteria

A

Anosmia and hypogonadism
+ one of the following
Red/green color blindness
Cleft lip/cleft palate
Urogenital tract anomalies
Neurosensory hearing loss
Mirror movements

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150
Q

Blue sclera and generalized osteoporosis

A

Osteogenesis imperfecta

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151
Q

Long eyelashes, thin confluent eyebrows, short nose with long thin philtrum and downturned upper lip, hirsutism, hand anomalies

A

Cornelia de Lange syndrome

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152
Q

Chromosome associated with Beckwith-Wiedemann syndrome

A

11p chromosome

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153
Q

Macrosomia +/- hemihyperplasia, hypoglycemia, hypercalciuria, macroglossia

A

Beckwith-Wiedemann syndrome

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154
Q

Increased tumor risk in Beckwith-Wiedemann syndrome

A

Wilms tumor
Adrenocortical carcinoma
Hepatoblastoma

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155
Q

Imaging of choice for suspected kidney stones

A

Helical CT

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156
Q

Cause of late onset (>72hr of life) hypocalcemic seizures

A

Hypoparathyroidism

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157
Q

Sepsis from Clostridium septicum

A

Cyclic neutropenia

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158
Q

Abdominal pain, anemia, failure to thrivr, tooth enamel defects

A

Celiac disease

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159
Q

Management of infant born to HepBAg positive mom

A

HepB IVIG + Hep vaccine at birth within 12hrs
Hep B vaccine at 1, 2, 6 months
*hep b given at birth doesnt count towards series

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160
Q

Genetics of Noonan syndrome

A

Autosomal dominant with variable expression
Gene mutation on chromosome 13
Normal karyotype

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161
Q

Vaccines needed to be delayed after IVIG

A

Varicella and MMR delayed by 8-10 months after IVIG

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162
Q

Pruritic, reddish brown macules and papules which evolve into vesicular and necrotic lesions as new ones appear

A

PLEVA (pityriasis lichenoides et varioliformis acuta)

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163
Q

Treatment of PLEVA

A

Oral erythromycin

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164
Q

Etiology of hand foot mouth disease

A

Coxsackievirus A16

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165
Q

Periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis

A

PFAFA syndrome
Symptoms recur q4weeks and last about 5 days
Treat with prednisone (1mg/kg, max 60mg) x1

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166
Q

Skin lesions associated with neuroblastoma

A

Subcutaneous bluish nodules and periorbital ecchymoses associated with proptosis

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167
Q

4 stages of acetaminophen toxicity

A

Stage I: Asymptomatic or nonspecific symptoms
Stage 2: (24-72hrs) RUQ pain and labs showing liver toxicity
Stage 3: (72-96hrs) Peak levels of toxicity, fulminant liver failure
Stage 4: (96hrs - 2 weeks): death or resolution

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168
Q

Limitations of acetaminophen toxicity nomogram

A

Can only be used between 4-24hrs post ingestion. Use of NAC still beneficial outside that window but treatment is based on symptoms and other labs

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169
Q

Well circumscribed, hairless, yellowish-to-tan plaque most often on face or scalp

A

Nevus sebaceous

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170
Q

Unilateral bluish-gray path on the face (distribution of the 1st and 2nd divisions of the trigeminal nerve)

A

Nevus of Ota

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171
Q

Bluish gray patch over the shoulder, sides of neck, upper arms and/or scapula

A

Nevus of Ito

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172
Q

Nasal or oral inflammation, abnormal CXR or CT, hematuria, vascular granulomatous inflammation on biopsy
+ANCA supports diagnosis

A

Granulomatosis with polyangitis
Must have 2 or more of above for diagnosis
Treat with prednisone + methotrexate or cyclophosphamide

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173
Q

Reed-Stenberg cells

A

Hodkin lymphoma

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174
Q

Categories of neutropenia

A

Mild ANC 1000 - 1500
Moderate ANC 500 - 1000
Severe ANC <500

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175
Q

Vaccines that can temporarily suppress TST reactivity if given before PPD placement

A

MMR, varicella and live attenuated influenza vaccines
*If not given in same visit, must wait 4-6 weeks in between

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176
Q

Type of anemia associated with Diamond-Blackfan anemia

A

Macrocytic anemia

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177
Q

Most common mechanism to cause SVT in neonate, infant and child

A

Atrioventricular reentry (followed by abnormal or ectopic automaticity)

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178
Q

Minimum dose interval between dose 2 and 3 of HPV

A

12 weeks

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179
Q

Leading medication triggers of SJS/TEN

A

Carbamazepine, phenobarbital, TMP/SMX, lamotrigine, NSAIDs

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180
Q

Treatment for prolonged QT syndrome

A

Beta blockers
Also consider: pacemaker, ICD or surgical ablation

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181
Q

Eczema, X-linked immunodeficiency and thrombocytopenia

A

Wiskott-Aldrich sydrome

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182
Q

Organisms responsible for reactive arthritis

A

GI: Shigella, salmonella, campylobacter, C. Diff, giardia, yersinia
GU: gonorrhea, chlamydia,

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183
Q

Mitten hand deformity (fusion of index middle, ring and 5th digit)

A

Apert syndrome

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184
Q

In premature infant: hemolytic anemia, edema, thrombocytosis

A

Vitamin E deficiency

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185
Q

Minimum interval between Hep A vaccines

A

6 months

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186
Q

Lab abnormality in Lesch-Nyhan syndrome

A

Elevated serum and urine uric acid levels

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187
Q

Absent or hypoplastic radii with present thumbs + thrombocytopenia

A

TAR syndrome (thrombocytopenia with absent radius)

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188
Q

Lab testing prior to isotretinoin

A

Fasting triglycerides and cholesterol, liver function tests
2 negative pregnancy tests

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189
Q

Management of osteochondroma

A

Clinical monitoring with radiograph in 6 months

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190
Q

Timeframe of highest risk of severe or fatal varicella in newborns

A

If mother develops varicella from 5 days before to 2 days after delivery

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191
Q

Arched eyebrows, long eyelashes, long openings of the eyelids with lower lids turned out, flat broadened tip of the nose, large protruding earlobes

A

Kabuki syndrome

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192
Q

X-ray: calcified soft tissue mass with peripheral bone maturation, separate from the bone

A

Myositis ossificans

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193
Q

Crystals seen in ehtylene glycol ingestion

A

Calcium oxalate crystals

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194
Q

Contraindications to intranasal flu vaccine

A

For 2-4 years: History of reactive airways disease or asthma (precaution >5 years)

Others: Pregnancy, chronic heart disease, DM, CKD, immunosuppressive disorders, daily salicylate therapy, CSF leak, cochlear implant.

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195
Q

Primary role of 1,25 OH2-D

A

Stimulate absorption n of Ca and P from small intestine and maintenance of calcium levels in bone

196
Q

Treatment for cutaneous larva migrans

A

Oral albendazole or oral ivermectin

197
Q

Progressive distal weakness, mild to moderate sensory loss, depressed or absent tendon reflexes, high arched feet in 1st or 2nd decade of life with +fam history

A

Charcot-Marie-Tooth disease

198
Q

Inheritance pattern of Duchenne muscular dystrophy

A

X-linked recessive

199
Q

Uses cup well, scribbles well, 10-25 words, 4 cube tower, 4 body part identification

A

18 months

200
Q

Runs well, walk up and down stairs with 2 feet on each step, 6 cube tower, 2 words together, uses spoon well

A

24 months

201
Q

“Doughy” feel to skin

A

Hypernatremic dehydration (or Ehlers Danlos) depending on context

202
Q

Age for referral to ophthalmology for non-resolving congenital nasolacrimal duct obstruction (dacryostenosis)

A

6 months

203
Q

Mottling over trunk with reddish-violaceous, reticulated patches with sharp demarcation at midline that does not improve with warming

A

Cutis marmorata telangiectatica congenita (asssociated with other congenital anomalies)

Physiologic cutis marmorata improves with warming

204
Q

Osteochondritis and periostitis usually involving metaphyses and diaphysis of long bones

A

Congenital syphilis

205
Q

Postexposure immunization timeframe for varicella

A

3-5 days after exposure

206
Q

Normal head circumference at birth. Macrocephaly concurrent to seizure and developmental delay

A

Metabolic megalencephaly

207
Q

Treatment for first recurrence of C. Diff

A

Oral metronidazole (or oral vancomycin)

Beyond first recurrence: fidaxomicin

208
Q

Hyperkyphosis and wedging of >5degree in at least 3 consecutive vertebral bodies on x-ray

A

Scheuermann kyphosis

209
Q

Random syndrome name for mullerian agenesis (underdeveloped or absent uterus/vagina) with normal external genitalia

A

Mayer-Rokitansky-Kuster-Hauser syndrome

210
Q

Fever abdominal and testicular pain + swelling of knees and ankles

A

Mediterranean fever (familiar paroxysmal polyserositis, familiar recurrent polyserositis)

211
Q

Primitive reflex that appears between 8-9 months of age

A

Parachute

212
Q

Port wine stain + leptomeningeal angioma

A

Sturge-Weber syndrome

213
Q

Inheritance pattern of Peutz-Jeghers syndrome

A

Autosomal dominant

214
Q

Recurrent bacterial and fungal pneumonias

A

Chronic granulomatous disease (CGD)

215
Q

Test for CGD (Chronic granulomatous disease)

A

Dihydrorhodamine test

216
Q

Order of teeth eruption

A

Mandibular central incisors (6-10 months)
Maxillary central incisors
Lateral incisors
First molars
Canines
Second molars

217
Q

Age to refer to dentist if no teeth eruption

A

18 months

218
Q

Age by which teeth eruption is usually complete

A

24-36 months

219
Q

DUMBELS (defecation, urination, miosis, bronchorrhea/bronchospasm/bradycardia, emesis, lacrimation, salivation)

A

Organophosphate poisoning

220
Q

Diseases associated with recurrent aphthous stomatitis (aphthous ulcers)

A

Crohns, Behcet, cyclic neutropenia, PFAFA and celiac

221
Q

Features of MPS Type 2 (Hunter syndrome)

A

Developmental delay, communicating hydrocephalus, coarse facial features, prominent forehead, hypertelorism, hepatosplenomegaly, joint stiffness, myocardial hypertrophy

222
Q

Inheritance pattern of MPS Type 2 (Hunter syndrome)

A

X-linked

223
Q

Meds that precipitate hemolysis in G6PD-deficiency

A

Aspirin, nitrofurantoin, chloramphenicol, antimalarials, vitamin K analogs

224
Q

Generalized hypotonia, decreased muscle mass, diffuse weakness. Associated ptosis, poor suck, diminished tendon reflexes, undescended testes. Hx of polyhydramnios

A

Myotubular myopathy
X-linked recessive
Normal CK, abnormal muscle biopsy

225
Q

Treatment for B. henselae infection

A

Azithromycin, rifampin, ciprofloxacin, TMP/SMX

226
Q

Unilateral nonpurulent conjunctivitis - sometimes associated with ocular granuloma and ipsilateral preauricular lymphadenitis

A

Parinaud occuloglandular syndrome (atypical catscratch disease)

227
Q

Treatment for acute priapism in SCD

A

IV hydration, oxygen, pain meds
If no response in 4-5 hours : exchange transfusion or hypertransfusion

228
Q

Most common organisms to cause IE in children

A

Viridans group strep and S. aureus

229
Q

X-ray: long bone with ground glass appearance, thin bony cortex, sharply outlined metaphyseal ends

A

Vitamin C deficiency (scurvy)

230
Q

X-ray: long bone with opaque, transverse metaphyseal bands that appear growing tubular bones

A

Lead lines (Lead poisoning)

231
Q

LGA, macrocrania, accelerated growth rate that normalizes at age 5. Large hand and feet, ID, monotone voice, behavior issues

A

Sotos syndrome

232
Q

Liver association with ARPKD (autosomal recessive polycystic kidney disease)

A

Congenital hepatic fibrosis

233
Q

Inheritance pattern of Fanconi anemia

A

Autosomal recessive

234
Q

Abnormal skin pigmentation, short stature, microcephaly, abnormal radii, absent or abnormal thumbs, renal abnormalities

A

Fanconi anemia

235
Q

Cancers associated with Fanconi anemia

A

AML, squamous cell carcinoma, hepatic tumors

236
Q

Peripheral smear with mild thrombocytopenia and giant, abnormal platelets

A

Bernard-Soulier syndrome

237
Q

Hypoketotic hypoglycemia, hepatomegaly, elevated liver enzymes

A

MCAD deficiency (medium-chain-acyl-CoA dehydrogenase)
Treat with carnitine

238
Q

Treatment for tularemia

A

Gentamicin or streptomycin

239
Q

Vaginal infections with normal pH (4-4.5)

A

Chlamydia, gonorrhea, candida

240
Q

Vaginal infections with high pH (>4.5)

A

BV and Trichomonas

241
Q

Salter-Harris fracture classification system for physeal fractures

A

Type 1: Straight across
Type 2: Above
Type 3: Lower
Type 4: Two or Through
Type 5: Rammed together

242
Q

Characteristic of brown recluse spider bite

A

Hemorrhagic vesicle and eschar formation

243
Q

Characteristic of black widow spider bite

A

Severe generalized cramping pain within 30-60mins of the bite

244
Q

Therapy for exercise induced bronchospasm in addition to albuterol pre-exercise

A

Daily leukotriene receptor antagonist

245
Q

Apical systolic murmur with midsystolic apical click

A

Mitral valve prolapse

246
Q

Harsh holosystolic murmur best hear at the mid-to-lower sternal border

A

VSD

247
Q

Systolic ejection murmur with fixed split S2

A

ASD

248
Q

Prenatal toxicity associated with Epstein anomaly

A

Lithium

249
Q

Apical displacement of the septal leaflet of the TV and a displaced, elongated anterior leaflet. RV divided into 2 chambers. Proximal portion is atrialized because of downward extension of TV. Distal chamber is small and may consist of only the RV outflow tract

A

Epstein anomaly (associated with prenatal lithium exposure)

250
Q

Definition for delayed onset of puberty in males

A

Lack of testicular enlargement by 14 years of age

251
Q

Grade 2/6 continuous murmur heart best in the 1st and 2nd right intercostal spaces and varies in intensity by changes in position of neck

A

Venous hum (benign finding)

252
Q

Grade 2-3/6 harsh, crescendo-decrescendo systolic murmur, loudest at the LLSB and apical regions, radiates to left mid sternal border and RUSB increases in intensity with Valsalva or standing

A

LVOT from HCM

253
Q

Discrete, firm papules and annular plaques without scale. Most often on lateral or dorsal surfaces of the hands, feet, wrists and ankles.

A

Granuloma annulare

254
Q

Best streptococcal antibody titer to document recent impetiginous infection

A

Antibodies to deoxyriboonuclease B (DNase B)

255
Q

Early sign of autism

A

Absence of social smile by 6 months

256
Q

SMR staging for breast

A

1: No breast
2: Breast/papilla as small mound isolate to areola
3: Breast/papilla as larger mound beyond areola with smooth contour
4: Areola and papilla form separate mound above breast
5: Mature stage

257
Q

SMR staging for pubic hair in girls

A

1: None
2: Sparse, long pigmented hair limited to labia majora
3: darkly pigmented, slightly curly on labia and mons pubis
4: Adult like in type and shape, on smaller area, not on thigh
5: Mature with spread to medial thigh

258
Q

Chromosome involved in Angelman and Prader-Willi syndrome

A

Chromosome 15

259
Q

Absence epilepsy EEG finding

A

3-Hz spike and wave pattern

260
Q

Basophilic stippling

A

Lead poisoning
Can also be seen in thalassemia, chronic etoh abuse, sickle cell anemia, megaloblastic anemia and sideroblastic anemia

261
Q

Appearance of post-term infant

A

Dry, peeling skin and less than normal subcutaneous tissue. Long fingernails +/- meconium staining of the skin, cord and nails

262
Q

Indications for growth hormone therapy

A

Prader-Willi syndrome, Turner syndrome, Noonan syndrome
CKD before transplantation, SHOX haploinsufficiency,
SGA w/o catch by 2yr, AIDS wasting syndrome, severe idiopathic short stature

263
Q

Age by which rooting reflex should be suppressed

A

4 months

264
Q

Timeframe of Moro reflex

A

Birth to 3-6 months

265
Q

Adverse effects of growth hormones (esp. athletes)

A

Peripheral edema, insulin resistance, hyperglycemia, hypertension, cardiomegaly, myalgia/arthralgia

266
Q

Dietary changes to prevent recurrent calcium oxalate stones

A

Less vitamin C, animal protein, sucrose and fructose, sodium
More calcium, water, potassium, fruits and vegetables

267
Q

Donovan bodies (encapsulated gram negative rods) on Wright side

A

Granuloma inguinale (organism: Klebsiella granulomatous)

268
Q

Risk factors for cerebral edema in DKA

A

<5 years of age, new-onset diabetes, low initial PCO2, high initial BUN, treatment with bicarbonate, lesser increase in sodium with therapy

269
Q

X-ray: Hypoplasia of several facial bones, including malar, zygomatic, lateral pteygoid plates and mandibular condyles

A

Treacher-Collins syndrome (mandibulofacial dysostosis)

270
Q

Work-up for precocious puberty in females

A

LH/FSH, estradiol

271
Q

X-ray: Snowman sign (large supracardiac shadow lying above cardiac shadow)

A

Supracardiac anomalous venous return in which all (TAPVR) or some (partial) of the pulmonary veins drain into the left atrium

272
Q

Causes for fake hyperkalemia

A

Thrombocytosis (450K), leukocytosis (>100K), hemolyzed specimen

273
Q

Inheritance pattern of G6PD deficiency

A

X-linked recessive

274
Q

Systolic ejection murmur associated with systolic click along LUSB

A

Pulmonic stenosis

275
Q

Drug rash with eosinphilia and systemic symptoms

A

DRESS syndrome
Tx: remove agent, supportive care, steroids

276
Q

Recurrent epistaxis, multiple telangiectasias on lips, tongue and palate.

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Autosomal dominant

277
Q

Calcifications of CMV vs toxo

A

CMV: periventricular
Toxo: brain parenchyma, especially caudate nucleus and basal ganglion

278
Q

Protein requirements by age

A

<6 months: 1.5-2.0g/kg/day
6-12 months: 1.5g/kg/day
Young children: 1g/kg/day
Older children/adults: 0.8g/kg/day

279
Q

Well defined, triangular, whitish, thickened areas adjacent too the limbus of both eyes

A

Bitot spots, seen in vitamin A deficiency

280
Q

Growth pattern during puberty in females

A

Maximal growth velocity 1-2 years after thelarche, slows after menarche and stops ~2 years after menarche

281
Q

Punctate petechial lesions of vaginal wall and cervix

A

Trichomonas

282
Q

Anemia, leukocytosis, thrombocytopenia and elevated Cr after gastroenteritis

A

HUS

283
Q

Dev delay, macrocephaly, hearing loss, coarse facial features, joint stiffness, hepatosplenomegaly, thickened skin, corneal clouding, congenital dermal melanocytosis

A

Mucopolysaccharidosis Type 1 (Hurler syndrome)
Autosomal recessive
Lysosomal enzyme deficiency

284
Q

Migraine medication associated with acute angle closure glaucoma

A

Topiramate

285
Q

Discrete, cystic, pea sized mass with overlying pore midway along anterior margin of sternocleidomastoid muscle

A

Branchial cleft cyst

286
Q

X-ray: wavy cortical hyperostosis of the bones, sparing metaphyseal area

A

Hypervitaminosis A

287
Q

Timing for Hep B vaccine in premature <2kg infant

A

1 month of chronological age or discharge whichever is first

288
Q

Dumb calculation for drawing body parts

A

One point for each feature: 2 eyes, 2 ears, noose, mouth, hair, 2 arms, 2 legs, 2 hands, 2 feet, neck, trunk.

1 point = 1/4 of age
Points are added a to base of 3

289
Q

EEG findings for benign rolandic epilepsy (BECTS)

A

Centrotemporal sharp waves (or spikes)

290
Q

Hearing loss, heterochromia, cutaneous hypopigmentation, broad nasal bridge, hair hypopigmentation (white forlock)

A

Waardenburg syndrome
PAX3 gene mutation

291
Q

Very high hyperammonemia (respiratory alkalosis later in presentation) and + low urine orotic acid

A

CPS deficiency (carbamoyl phosphatase deficiency)

292
Q

Very high hyperammonemia (respiratory alkalosis later in presentation) + high urine orotic acid

A

OTC deficiency (OOrnithine transcabamylase deficiency)

293
Q

Age after which MMRV can be given without increased risk of febrile seizures

A

> 48 months

294
Q

Medium pitched systolic ejection murmur best heard at LUSB, radiating to RUSB and posterior lung fields and axillae

A

Functional peripheral pulmonary artery stenosis

295
Q

Indications for hospitalization in anorexia nervosa (other than obvious cardiac/electrolyte stuff)

A

SBP <90
Weight <75% median body mass
HR <50 awake, <45 asleep
Temp <96F (35.5C)

296
Q

Indications for hospitalization in anorexia nervosa (other than obvious cardiac/electrolyte stuff)

A

SBP <90
Weight <75% median body mass
HR <50 awake, <45 asleep
Temp <96F (35.5C)

297
Q

Ataxia, lower extremity weakness, cardiomyopathy, eye and ear abnormalities, hypoactive or absent DTRs, bony abnormalities, pyramidal signs (Babinski)

A

Friedreich ataxia
Autosomal recessive

298
Q

Trisomy associated with Brushfield spots

A

Trisomy 21

299
Q

Difference between CAH from 21-hydroxylase deficiency and 11beta-hydroxylase deficiency

A

Hypertension is present in 11beta-hydroxylase deficiency

300
Q

Most common type of craniosynostosis

A

Premature fusion of the midline sagittal suture

301
Q

ECG: right axis deviation, RVH, slightly prolonged QRS, rsR pattern on precordial leads

A

Secundum ASD

302
Q

Endocrine disorder associated with SCFE

A

Hypothyroidism and growth hormone deficiency

303
Q

VSD, clenched hands with polydactyly, polycystic kidneys, holoprosencephaly, cutis aplasia

A

Trisomy 13

304
Q

Triad of cafe au lait skin pigmentation, polyostotic fibrous dysplasia autonomous endocrine hyperfunction

A

McCune-Albright syndrome
Can present with isolated early menstrual bleeding

305
Q

Autoimmune thyroid disease, Type 1 DM, Primary adrenal insufficiency

A

Autoimmune polyglandular syndrome type 2

306
Q

Primary adrenal insufficiency, chronic mucocutaneous candidiasis, Hypoparathyroidism

A

Autoimmune polyglandular syndrome Type 1

307
Q

Inheritance pattern of tuberous sclerosis

A

Autosomal dominant

308
Q

Adenoma sebaceous, hypopigmented macules (ash leaf spots), periungual fibromas, shagreen patches

A

Tuberous sclerosis

309
Q

Uses 10-25 words, follows simple commands, identifies 2-4 body parts

A

18 month

310
Q

Female with regression of milestones, handwringing, seizures and increased risk of sudden cardiac death

A

Rett syndrome

311
Q

Sweet odor of urine and earwax

A

Maple syrup urine disease

312
Q

Lifts head to 90 degrees when lying prone

A

4 months

313
Q

Can lift head off table in anticipation of being lifted

A

6 months

314
Q

Transfers object from hand to hand

A

6 months

315
Q

Sits with support

A

6 months

316
Q

Hyperammonemia + metabolic acidosis

A

Organic acidemia (methylmalonic acidemia and propionic acidemia)

317
Q

Macrocephaly, Hypotonia/dystonia with metabolic stressor/fever. Subdural hematoma/retinal hemorrhage

A

Glutaric acidemia Type 1
Autosomal recessive

318
Q

Macrocephaly, Hypotonia/dystonia with metabolic stressor/fever. Subdural hematoma/retinal hemorrhage

A

Glutaric acidemia Type 1
Autosomal recessive

319
Q

Lab test used in newborn screening to detect SCID

A

T-cell receptor excision circles

320
Q

X-ray: “Boot shaped” uplifted cardiac apex (RVH) and concavity of the upper left heart border (hypoplasia of pulmonary artery segment)

A

Tetralogy of Fallot

321
Q

Walks up and down stairs with 1 foot on each step

A

4 years

322
Q

Jump off ground with 2 feet up

A

30 months

323
Q

Can skip

A

6 years

324
Q

Malignancy associated with NF1, especially <6yrs of age

A

Optic pathway glioma

325
Q

Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye abnormalities, sternal clefting/supraumbilical abdominal raphe

A

PHACE(S) syndrome

326
Q

Pulls to stand

A

9 months

327
Q

Offer toy to adult, stand briefly

A

11 months

328
Q

Walk without help, mature pincer grasp

A

12 months

329
Q

X-ray: dysostosis multiplex in the lower thoracic and upper lumbar vertebrae

A

Hurler syndrome (Mucopolysaccharidosis Type 1)

330
Q

X-ray: fibrous dysplasia of the long bones

A

McCune-Albright syndrome

331
Q

Cooperative play

A

3-4 years

332
Q

Dress independently

A

3 years old

333
Q

Age by which masters buttons

A

4 years

334
Q

Macrosomia, macroglossia, hypoglycemia, ear creases/pits, hemihypertrophy and visceromegaly

A

Beckwith-Wiedemann syndrome

335
Q

Most common cause of congenital hypothyroidism

A

Thyroid dysgenesis

336
Q

Jugular vein septic thrombophlebitis

A

Lemierre syndrome

337
Q

Treatment for ichthyosis vulgaris

A

Emollient with alpha hydroxy acid

338
Q

Precautions for measles

A

Airborne

339
Q

Respiratory distress, decreased movement of rib cage on affected side, decreased air entry on affected side, medially rotated arm that hangs by the side with pronated forearm after difficult delivery

A

Diaphragmatic paralysis due to phrenic nerve injury
Occurs with injury to 3rd to 5th cervical root injury

340
Q

Bilateral acoustic neuromas
Unilateral acoustic neuroma + 2 of the following:
Meningioma, glioma, schwannoma, juvenile cataracts, cortical wedge cataract

A

Neurofibromatosis type 2

341
Q

Light pigmented skin, eczema, blond hair and blue eyes + developmental delay and seizures

A

PKU
Tx: dietary restriction of phenylalanine
Enzyme involved: phenylalanine hydroxylase

342
Q

Feeding difficulties, strabismus, opisthotonic posturing. Huge liver and spleen

A

Gaucher disease
Enzyme involved: glucocerebrosidase

343
Q

Marked hypotonia, absent tendon reflexes, weakness of the intercostal musculature, tongue fasciculations (birth to 6 months)

A

Spinal muscular atrophy Type 1

344
Q

Failure of segmentation and fusion of >2 cervical vertebrae + one or both scapula small and high-riding

A

Klippel-Feil syndrome

345
Q

GI disorder associated with Kawasaki disease

A

Gallbladder hydrops (RUQ mass with overdistended, balloon shaped gallbladder on ultrasound)

346
Q

First line treatments for infantile spasms

A

ACTH, oral prednisolone and oral vigabatrin

347
Q

6-24 month old with horizontal nystagmus, torticollis and slow head nodding

A

Spasmus nutans
*Still needs complete evaluation before calling it that, needs f/u with Ophtha

348
Q

Duration of doxycycline malaria prophylaxis

A

1-2 days prior to departure, through travel and for 4 weeks after travel is complete

349
Q

Stacks 8 blocks has at least 100 words

A

30 months

350
Q

Inheritance pattern of incontinentia pigmenti

A

X-linked dominant (lethal in hemizygous males)

351
Q

Vitamin deficiency associated with chelosis and sore tongue

A

Riboflavin (B2)

352
Q

Vitamin deficiency associated with neonatal seizures non-responsive to antiseizure therapy

A

Pyridoxine (B6)

353
Q

Gestational age in which creases in the soles appear

A

31-32 weeks

354
Q

Gestational age in which incurving of the pinna occurs

A

36-38 weeks

355
Q

Gestational age by which the labia majora nearly covers the clitoris

A

36-39 weeks

356
Q

Gestational age by which lanugo limited to the shoulders is expected

A

38-41 weeks

357
Q

Gestational age by which testes appear in the upper scrotum

A

36-39 weeks

358
Q

Hypoglycemia after fasting or stress + negative urinary ketones and reducing substances + hepatomegaly

A

Fatty acid oxidation disorder (FAOD)
Medium-chain acyl-CoA dehydrogenase deficiency is the most common FAOD

359
Q

Treatment to consider in serotonin syndrome not responding to benzos

A

Cyproheptadine

360
Q

Delayed dentition, pegged or conical teeth, partial anodontia. Scarring alopecia. Inflammatory vesicles and bullae over trunks and extremities filled with eosinophils (on skin biopsy and peripheral sample) at birth. X-linked dominant disorder

A

Incontinentia pigmenti

361
Q

Rake without grasping

A

6 months

362
Q

Scissors grasp

A

8 months

363
Q

Pincer grasp

A

10 months

364
Q

Fine pincer grasp

A

12 months

365
Q

Peripheral smear with increased lymphocytes including atypical lymphocytes with viral infection

A

EBV

366
Q

Routine screening for collegiate athletes recommended by NCAA

A

Sickle cell test

367
Q

Average age for urine and stool day continence

A

30 months

368
Q

Most children achieve full toilet training (daytime)

A

3-4 years

369
Q

Most children complete nighttime toilet training

A

5-7 years

370
Q

Ocular findings associated with albinism

A

Nystagmus, strabismus, photophobia, decreased visual acuity

371
Q

Marked hypotonia and cardiomegaly in an infant who was normal at birth

A

Type 2 glycogen storage disorder
Autosomal recessive

372
Q

Infant with muscle weakness, hepatomegaly, severe cardiomegaly, normal mental dev, normal glucose. ECG with short PR interval and high voltage QRS

A

Type 2 glycogen storage disorder

373
Q

Infant with severe and rapid hypoglycemia resulting in seizures, hepatomegaly and failure to thrive

A

Type 1 glycogen storage disease (von Gierke disease)

374
Q

Wilms tumor, aniridia, genitourinary anomalies, reduced intellectual disability

A

WAGR syndrome

375
Q

Abnormal melanin distribution (skin, eyes, hair color), dense body of platelets (bruising), defective granulocyte (immune compromise with recurrent skin and mucosal infections) + oral aphthous ulcers

A

Chediak-Higashi syndrome

376
Q

Recurrent sinopulmonary infections, no tonsils or lymph nodes, absent IgG, IgA and IgM in male

A

X-linked agammaglobulinemia

377
Q

Newborn or infant with discoid lesions (annular, scaling, pinkish plaques), periorbital erythema and congenital heart block

A

Neonatal lupus erythematosus

378
Q

Minimum interval between dose 1 and 2 of varicella if starting series <13 years of age

A

3 months

379
Q

Minimum interval between dose 1 and 2 of varicella if starting series >13 years of age

A

28 days

380
Q

Infant with hepatorenal dysfunction without hypoglycemia. FTT, hepatomegaly with hepatoblastoma and liver failure are common. Autosomal recessive

A

Tyrosinemia type 1 (hepatorenal tyrosinemia)
Dx: urine succinylacetone levels
Tx: NTBC

381
Q

Compressible, nonpulsatile mass on posterolateral side of neck that transilluminates well and does not involve underlying tissue in newborn

A

Cystic hygroma

382
Q

90% of infants demonstrate social smile

A

2 months

383
Q

Marcus Gunn (jaw winking) phenomenon

A

Simultaneous eyelid blinking during sucking jaw movements
Cause: Abnormal innervation of the trigeminal and oculomotor nerve

384
Q

Immunizations administered as subcutaneous injections

A

MMR
Varicella
IPV (can be IM or SC)

385
Q

Lab tested in newborn screen for MSUD

A

L-alloisoleucine
Tx: Diet with branched-chain amino acid restriction (leucine, isoleucine, valine)

386
Q

X-ray: Massive right atrial enlargement and “wall to wall” or “box shaped” heart

A

Epstein anomaly of the tricuspid valve

387
Q

Virus associated with reactivation of DRESS syndrome

A

HHV-6 (also hh-7, cmv or ebv)

388
Q

Prominent postauricular and suboccipital lymphadenopathy + fine, discrete, irregular, pinkish-red macules on face and trunk

A

German measles (Rubella)

389
Q

Common infectious causes of bloody and/serosanguineous vaginal discharge and vulvovaginitis

A

Shigella flexeri, Shigella sonnei and group A Streptococcus

390
Q

Jaundice, splenomegaly, gallstones + spherocytes on smear

A

Hereditary spherocytosis

391
Q

Rule of 9s for BSA calculation of burns

A

Head and neck: 9%
Each upper limb: 9%
Thorax and abdomen front: 18%
Thorax and abdomen back: 18%
Perineum: 1%
Each lower limb: 18%

*Should be used only if >14 years

392
Q

Scribbles and starting to use cup, makes a tower 2-3 cubes

A

15 months

393
Q

Scribbles and uses cup well + tower of 4 blocks

A

18 months

394
Q

Draw a square, copy a cross, use fork well, draw a person with 4-6 body parts

A

4 years

395
Q

Vitamin deficiency associated with cardiomegaly with heart failure and generalized edema. Usually preceded by malaise, severe fatigue, apathy, irritability, abdominal distention and anorexia

A

Thiamine (B1)

396
Q

Whitish lines running across teeth, chalky brownish enamel discoloration and/or dental pitting

A

Fluorosis (excessive fluoride)

397
Q

Prenatal drug exposure associated with nasal hypoplasia and stippled epiphyses

A

Warfarin fetal syndrome

398
Q

Tourette diagnostic criteria

A

At least 2 motor tics + vocal tick present
Tics can wax and wane but present for >1 year
Tics appear before age 18
Tics are not caused by medication or substance

399
Q

PPV equation

A

PPV = TP/(TP+FP)

400
Q

Tests to be done on entry into US (international adoptees and refugees)

A

Hep C, HepBsAg, syphilis, HIV, CBC + diff, lead, stool O&P, TST

401
Q

Parkland formula for burns

A

4mL/kg x weight (kg) x BSA affected (%)

402
Q

Screening test for Lesch Nyhan syndrome

A

Urinary urate-to-creatinine ratio

403
Q

Microcephaly, “greek warrior” helmet nose, high anterior hairline with prominent glabella, small jaw, ear pits.

A

Wolf-Hirschhorn syndrome (4p- deletion)

404
Q

Who needs screening for ROP

A

Infants born 30WGA or lower
Birthweight <1500

405
Q

Male infant with bilateral hydroureteronephrosis and distended urinary bladder

A

Posterior urethral valve

406
Q

Deficiency associated with breath holding spells

A

Iron deficiency

407
Q

Conditions that can cause spontaneous pneumothorax

A

Asthma, cystic fibrosis, chronic lung disease of prematurity, Marfan syndrome and Ehlers-Danlos

408
Q

Biochemical features of homocystinuria

A

Elevated total serum plasma homocysteine, elevated methionine level of serum amino acid analysis

409
Q

CHF + deep Q waves in inferior leads (II, III, AVF)

A

Anomalous left coronary artery from the pulmonary artery (ALPACA)

410
Q

Test for primary ciliary dyskinesia

A

Exhaled nasal nitric oxide

411
Q

Treatment for common warts

A

Topical salicylic acid

412
Q

Inheritance pattern of achondroplasia

A

Autosomal dominant

413
Q

Pseudocyst associated with the sublingual glands and/or submandibular ducts. Appear as translucent to bluish, nonblanching, fluctuant swelling lateral to the midline of the lower mouth

A

Ranula

414
Q

Knee giving way + knee pain + inability to fully extend extremity + pos Wilson sign (internally rotating the tibia with the knee flexed to 90degrees followed by extension reproduces pain

A

Osteochondritis dissecans

415
Q

Random lab test elevated in lead poisoning

A

zinc protoporphyrin and erythrocyte protoporphyrin

416
Q

Cyanotic at birth, ECG with left superior axis deviation, right atrial enlargement and LVH. CXr with decreased pulmonary vasculature

A

Tricuspid atresia

417
Q

Complications of unrepaired tetralogy of Fallot with right to left shunting

A

Brain abscesses, cerebral thrombosis with hemiplegia and infective endocarditis

418
Q

Mucosal neuromas, tall, thin body habitus, full lips, joint laxity, alacrima

A

Multiple endocrine neoplasia type 2B
Associated with medullary thyroid carcinoma and pheochromocytoma

419
Q

Labs in diabetes insipidus

A

Low urine specific gravity on first voided urine morning specimen and normal to high serum sodium

420
Q

Infant with corneal clouding, photophobia and chronic or intermittent tearing

A

Congenital or early-onset glaucoma

421
Q

Genetic syndrome caused by by expansion of CGG repeats in the FMR1 gene

A

Fragile X syndrome

422
Q

Common adverse events of the ketogenic diet

A

Gastrointestinal complaints, hyperlipidemia, and kidney stones.

423
Q

GI disease associated with Waardenburg syndrome type 4

A

Hirschsprung disease

424
Q

Prominent white forelock, wide nasal bridge, sensorineural deafness, heterochromia iridis, and in some types, lateral displacement of the inner canthi.

A

Waardenburg syndrome

425
Q

Risk factors for post-concussive syndrome

A

Severe initial symptom burden or delayed onset
LOC > 1 min
Vestibular symptoms
Pre-injury history of psychiatric disorders, migraine headache, learning disorder
Repeated concussions

426
Q

Prenatal exposure associated with persistent pulmonary hypertension of the newborn

A

SSRIs

427
Q

Hematologic condition associated with Noonan syndrome

A

Factor 11 deficiency
Can also see thrombocytopenia

428
Q

Prenatal ingestions associated with gastroschisis

A

Cocaine, nicotine, pseudoephedrine

429
Q

Scoliosis degree in which to consider bracing

A

25-45

430
Q

Recommended delivery room temperature

A

22-26C (71-78F)

431
Q

Medications that can cause telogen effluvium

A

Beta blockers, amphetamines, ACE-inhibitors, OCPs, retinoids, lithium

432
Q

Timeframe to repeat hearing testing if failed newborn screeen

A

3 months

433
Q

Adverse effects of ß-blocking drugs

A

Hypotension, bradycardia, conduction delays, bronchospasm, and hypoglycemia.

434
Q

Metabolic derangements that children with CF are at risk for

A

Hypochloremia, hyponatremic dehydration
Hypokalemia
Metabolic alkalosis

435
Q

Inheritance pattern of myotonic dystrophy type 1

A

Autosomal dominant
Caused by CTG trinucleotide repeat expansion of the gene DMPK.

436
Q

Painful, discrete yellow or white ulcers on the soft palate, uvula, tonsils, and posterior oropharyngeal area + abrupt onset of high fever, headache, and sore throat.

A

Herpangina
Most commonly caused by enterovirus like coxsackie

437
Q

Baby with heart failure + prominent Q waves on ECG

A

Anomalous coronary artery from the pulmonary artery (ALCAPA)

438
Q

Test to diagnose protein losing enteropathy

A

Fecal α1-antitrypsin level

439
Q

Low TREC (T-cell receptor excision circle) on newborn screen

A

Primary immunodeficiency (SCID)
Tx: prophylactic antimicrobials (TMP/SMX, fluconazole)

440
Q

Diseases requiring Airborne precautions

A

Measles, TB, Varicella

441
Q

Diseases requiring droplet precautions

A

Adeno, flu, mumps, invasive neiseria meningitidis, pertussis, parvo B19, rhinovirus

442
Q

Diseases requiring contact precautions

A

Enteroviruses, HSV, MDR organisms, paraflu, RSV, scabies, shigella, S. aureus if abscess

443
Q

Presentation of benign rolandic epilepsy

A

Preservation of consciousness, speech arrest, hypersalivation, facial and arm clonic movements. +/- GTC seizures

444
Q

Genetics. of fragile X

A

Expansion of a repetition of a single trinucleotide gene on chromosome X (Xq27.3)

445
Q

Congenital telangiectatic erythema
Photosensitivity, telangiectasias, severe chelitis, growth deficiency, susceptibility to neoplasms.
Long narrow face with small mandible, high pitched voice, “bird like body movements”

A

Bloom syndrome
Autosomal recessive
Gene 15q26.1

446
Q

Acute febrile neutrophilic dermatosis
Fever, painful skin lesions on arms, neck, face and back

A

Sweet syndrome

447
Q

Maternal condition associated with caudal regression syndrome

A

Diabetes

448
Q

Metaphyseal fraying and cupping + widening of epiphyses

A

Rickets (vitamin D Deficiency)

449
Q

Ocular condition associated with nevus of Ota (oculodermal melanocytosis)

A

Glaucoma

450
Q

Post-streptococcal resolution times

A

Gross hematuria in 1-3 weeks
Hypertension, azotemia and proteinuria in 3-4 weeks
Low C3 levels in 8-12 weeks
Microscopic hematuria may persist for 1 year

451
Q

Prophylactic antibiotics that should be given after an avulsed tooth is replaced.

A

Doxycycline or amoxicillin should be given after an avulsed tooth is replaced.

452
Q

Recurrent fevers, urticaria and joint pain + sensorineural hearing loss in adolescence

A

CAPS (cryopyrin associated periodic syndromes)
Tx with anakinra, rilonacept, canakinumab (IL-1 inhibitors)

453
Q

Academic difficulty, impulsivity, behavioral outbursts + gait abnormalities, slurred speech and deterioration in fine motor skills + hyperpigmentation

A

Adrenoleukodystrophy
X linked recessive
Accumulation of very long fatty acids in CNS , PNS and adrenal glands

454
Q

Infections associated with triggering Stevens Johnson syndrome

A

Mycoplasma pneumoniae and CMV

455
Q

Critical labs to order during hypoglycemia episode to determine endocrine cause

A

Cortisol, growth hormone, insulin, c-peptide, ketones

456
Q

Most common known gene defect in hereditary pancreatitis

A

PRSS1
Others are CFTR, SPINK1, CRTC

457
Q

Gene associated with Alagille syndrome

A

JAG1 (Absence or mutation)

458
Q

Achalasia, alacrima, ACTH-resistant adrenal insufficiency

A

Triple A or Allgrove syndrome

459
Q

Diagnosis for Gaucher disease

A

Glucocerebrosidase

460
Q

Exaggerated startle reflex, loss of motor skills, hypotonia, hyperreflexia, macular cherry red spot

A

Tay Sachs disease

461
Q

“Erlenmeyer flask” deformity on X-ray

A

Gaucher disease

462
Q

Viral exanthem with palpebral/periorbital edema (Berliner sign)

A

Roseola
HHV 6 / HHV 7

463
Q

Genetic male with undervirilization. Normal testosterone elevated testosterone:DHT ratio

A

5 alpha reductase deficiency
Autosomal recessive
Güevedoce

464
Q

Defect/microfracture in the pars interarticularis (in gymnast, ballet dancer or wrestler)

A

Spondylolysis

465
Q

Bilateral pars articularis defects with subluxation of one vertebra over another

A

Spondylolisthesis

466
Q

Physiology of Ebstein anomaly

A

Apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of part of the right ventricle
Associated with prenatal lithim use

467
Q

Brain imagining findings in Sturge-Weber syndrome

A

Dilation of ipsilateral ventricle (to facial nevus), calcification and cerebral atrophy.

468
Q

ECG findings in Epstein anomaly

A

Tall peaked P waves in lead II and V1
Right axis deviation
RBBB pattern
Can be associated with WPW

469
Q

Diarrhea after water park or swimming pool
Diarrhea after petting zoo
Small round oocysts in stool

A

Cryptosporidium
Treat with nitazoxanide

470
Q

RTA type 1 associations

A

Nephrolithiasis, nephrocalcinosis

471
Q

RTA type 2 associations

A

Fanconi syndrome (loss of bicarb, phos, glucose and amino acids)

472
Q

RTA type 4 associations

A

Hyperkalemia, adrenal failure, CAH, DM

473
Q

Most common organisms to cause brain abscess in neonate

A

Citrobacter koseri
Cronobacter sakazakii
Proteus
Less likely E. coli

474
Q

Features to differentiate Smith-Lemli-Opitz syndrome from Trisomy 18

A

Trisomy 18 has clenched fist and rocker bottom feet

475
Q

Retinitis pigmentosa, obesity, developmental disabilities, polydactyly, genital hypoplasia, hypogonadism

A

Laurence-Moon-Biedl/Bardet-Biedl syndrome
*looks like prader willi but they say retinitis pigmentosa

476
Q

Antiseizure med associated with hyponatremia

A

Oxcarbazepine

477
Q

Potential complication of hyphema

A

Glaucoma

478
Q

Description of coloboma of the eye

A

Keyhole like or notch like defect in the pupil and iris.
Associated with nystagmus and microphthalmia

479
Q

Holliday Segar method for fluid replacement

A

First 10kg = 100ml/kg
Second 10kg = 50ml/kg
Above 20kg = 20ml/kg

If given deficit its %of deficit x weight in kg

480
Q

Gene mutation in nail patella sydrome

A

LMX1B gene

481
Q

Criteria for HLH diagnosis

A

5/8 of these or known gene mutation
Fever
Splenomegaly
Cytopenias in 2/3 lines
High triglycerides
Hemophagocytosis without malignancy
Low or absent NK cell activity
Elevated ferritin
Elevated soluble CD25 (IL-2 receptor) level

482
Q

Diagnosis associated with reverse differential cyanosis (post ductal higher than preductal)

A

Dextro transposition of the great arteries with either pulmonary HTN or coartaction of the aorta

483
Q

Glycogen storage disease type associated with “second wind phenomenon “ rest after exercise induced myalgia improves exercise tolerance

A

Glycogen storage disease type V (McArdle disease)

484
Q

Leading cause of congenital hemiplegia

A

Ischemic perinatal stroke
Test for protein C

485
Q

Anemia and peripheral eosinophilia after being barefoot in endemic area

A

Hookworm (Necator americanus)
Treat with albendazole, mebendazole or pyrantel pamoate

486
Q

Baby with heart failure and prominent Q waves on inferior leads on ECG

A

ALCAPA
Anomalous coronary artery from the pulmonary artery

487
Q

Source of hormones in male precocious puberty with very high DHEA-S

A

Adrenal gland

ABP Review Selena (1 decks)

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