ABP Review Selena Flashcards
1
Q
Varicella vaccine storage temp
A
-15C (<5F)
2
Q
Darier sign
A
Localized erythema and urticarial wheals after stroking/rubbing (associated with Urticaria pigmentosa, due to histamine from mast cells)
3
Q
Utility of 17-hydroxyprogesterone for endo work up
A
Evaluate for CAH
4
Q
Perioral dermatitis
A
Inhalant use
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
6
Q
X-ray: small radiolucent nidus (<2cm) surrounded by sclerotic bone
A
Osteoid osteoma
7
Q
Workup for premature adrenarche
A
Testosterone, DHEAS, androstendione, 17-hydroxyprogesterone
8
Q
School exclusion for positive Hep A
A
7 days of symptom onset
9
Q
X-ray: moth-eaten destructive lesions
A
Ewing sarcoma
10
Q
X-ray: Codman triangle associated with radial or sunburst pattern
A
Osteosarcoma
11
Q
Skin findings in NF1
A
Axillary or inguinal freckling and cafe au lait spots
12
Q
X-ray: bony spur (cauliflower like) that arises from the surface of the cortex and points away from the joint
A
Osteochondroma
13
Q
Transient myeloproliferative disorder (transient leukemia)
A
Associated with trisomy 21 + scattered vesiculopustular lesions
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
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)
16
Q
Inheritance pattern of NF1
A
Autosomal dominant
17
Q
Location of NF1 gene
A
Long arm of chromosome 17
18
Q
Complications of NF1
A
HTN (neurofibromas in renal artery)
Vision loss (optic glioma, hamartomas)
19
Q
Associations of retinal hemorrhages
A
Glutaric Acidemia Type 1
Menkes Disease
Abusive Head trauma
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
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)
22
Q
Hydrocortisone dose for stress dosing
A
Hydrocortisone 100mg/m3
23
Q
Most commonly affected bone in Caffey disease (infantile cortical hyperostosis)
A
Mandible (95% of cases)
Ulna, rib, scapula, skull, ilium
24
Q
Wolfram syndrome associations
A
Central DI, DM
Optic atrophy and deafness
25
Causes of pharyngitis in adolescents
Group A strep
EBV
Arcanobacterium haemolyticum
Group C and Group G strep
Gonorrhea
26
Sleep time recommendations
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
27
Features of congenital hypothyroidism
Prolonged jaundice
Poor feeding/large tongue
Protuberant abdomen/umbilical hernia
Widely open fontanelles
Constipation
28
Dose for treatment of congenital hypothyroidism
Levothyroxine 10-15mcg/kg/day
29
Presentation of acute cerebellar ataxia of childhood
Ataxia (duh), hypotonia, tremor, horizontal nystagmus, dysarthria
30
Presentation of brainstem glioma
Difficulty speaking
Facial droop
Cross eyes
31
Presentation of medulloblastoma
Morning headache
Vomiting
Lethargy
Ataxia
32
Classic triad for prune belly syndrome
Undescended testes
GU anomalies
Partial aplasia or hypoplasia of abdominal musculature
33
Morbidity/mortality associations of prune belly syndrome
Renal abnormalities —> oligohydramnios
Oligohydramnios —> hypoplastic lungs
34
VACTERL features
Vertebral defects
Anal atresia
Cardiac defects
TE fistula
Renal anomalies
Limb abnormalities
35
Acrodermatitis enteropathica
Zinc deficiency
36
Simple febrile seizures
<15mins
No recurrence in 24hrs
Generalized
Fever present
37
Complex febrile seizures
>15mins
>1 episode in 24hrs
Focal symptoms
38
Ghent criteria
(Clinical diagnostic criteria for Marfan syndrome)
2 of major criteria
Ectopia lentis
Aortic dilation or dissection
Family history
39
Bacteria associated with erysipelas
Group A betahemolyti strep
40
Most common trigger for asthma
Viral URI
41
Most common cause of infant mortality 1mo-1yr
SIDS
42
Findings in leukocyte adhesion deficiency
Delayed separation of cord
Chronic gingivitis
Failure to thrive
Recurrent bacterial and fungal infections
43
90% of infants can voluntarily grasp rattle
5 months
44
Steroid limitation for MMR or varicella vaccination
>2mg/kg/day or >20mg/day of prednisone for >2 weeks
Can be given after 1 month of discontinuation of treatment
45
Non-steroid contraindications to varicella vaccine
Severe allergic reaction
Severe immunosuppression
Pregnancy (or possibility within 4 weeks
Recent immunoglobulin administration
46
Orthopedic findings in Marfan syndrome
Scoliosis
Arachnodactyly
Pectus deformities
Flat feet
Hammer toes
47
Eye findings in Marfan syndrome
Lens dislocation
Myopia
Early-onset glaucoma
48
Cardiac findings in Marfan syndrome
Aortic regurgitation
Mitral valve prolapse
Dilation of aortic root
49
Inheritance of Marfan syndrome
Autosomal dominant
50
Location of gene mutation of Marfan syndrome
Chromosome 15 (glycoprotein fibrillin-1 gene)
51
Autoimmune hepatitis type 1 vs type 2
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
52
CHARGE syndrome
Coloboma
Heart disease
Atresia choanae
Restricted growth and development
Genital anomalies
Ear anomalies and/or deafness
53
Treatment of reactive arthritis
NSAIDs for 2-4 weeks
54
Triad of reactive arthritis
Conjunctivitis, urethritis, arthritis
55
Most common presentation of tularemia
Ulceroglandular syndrome
Presentation: fever, chills, headache, myalgia, malaise
56
Extrahepatic manifestations of Hep B
Symmetrical polyarthralgia or arthritis
Macular or urticarial rashes
Thrombocytopenia
57
Diseases associated with Hep B
Papular acrodermatitis (Gianotti-Crosti syndrome)
Polyarteritis nodosa
Glomeronephritis
58
Lab findings of DIC
Thrombocytopenia
Prolonged PT/PTT/INR
59
Clinical description for osteoid osteoma
Severe progressive pain
Worse at night
Unrelieved by acetaminophen
Improves with NSAIDs
60
Difference between RotaTeq vs Rotarix
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
61
Findings of congenital rubella
Growth restriction
Sensorineural hearing loss
Developmental delay
PDA with pulmonic stenosis
62
Findings of congenital syphilis
Frontal bossing, Saddle nose, interstitial keratitis
Hearing loss, Hutchinson teeth, gummas
Intellectual disability, anterior bowing of shins
63
Findings of congenital varicella
Cicatricial skin scaring
Cataracts
Chorioretinitis
Microphthalmos
Nystagmus
Hypoplastic bone and muscle of the limbns
Seizures and intellectual disability
64
Work up for suspected testicular cancer
1st: Testicular ultrasound
Labs: beta hcg, alpha fetoprotein, LDH
65
Airborne precautions
Standard
Private room with negative pressure ventilation
N95
66
Measles precautions
Airborne precautions
67
Inheritance pattern of Wiskott-Aldrich syndrome
X-linked recessive
68
Triad of Wiskott-Aldrich syndrome
Thrombocytopenia
Eczema
Infections with encapsulated bacteria and opportunistic infections
69
Cardiac distinction between Noonan and Turner
Noonan: Pulmonary valve stenosis
Turner: Biscuspid or aortic coarctation
70
Disease associated with Darier sign
Systemic mastocytosis
71
Liver disease associated with UC
PSC (Primary sclerosing cholangitis)
72
Diagnostic imaging for PSC
MRCP
73
Pulmonic ejection click, heard on LUSB
Split S2, short medium pichted systolic ejection murmur
Pulmonary valve stenosis
74
Characteristics of night terrors
Non-REM sleep
Age 3-12 (peak 2-7yrs)
Abrupt awakening
Facial flushing, tachycardia
No recollection of event
Does not respond to soothing/calming
75
Flesh colored, smooth lesion protruding from vagina
Hymenal tag
76
Risk factor for renal vein thrombosis
Perinatal asphyxia
Others: septic shock, dehydration, congenital hypercoagulable states, maternal diabetes
77
Presentation of RVT (renal vein thrombosis)
Sudden onset gross hematuria
Unilateral or bilateral flank mass
Hypertension
Decreased urine output
Thrombocytopenia
78
Findings in Peutz-Jeghers syndrome
Painless rectal bleeding
Freckling of lips
79
Inheritance of Peutz-Jeghers syndrome
Autosomal dominant
80
Treatment of PJP (PCP)
TMP-SMX + Steroids
81
Patients that need treatment for Salmonella
<3months
Immunosupressive illnesses
Hemoglobinopathies
Malignancies
Chronic GI disorders
82
If treatment for Salmonella needed, which Abx?
Azithromycin
Amox or TMP/SMX if susceptibilities are available
83
Causes of Salmonella
Food: poultry or beef
Pet reptiles and amphibians (turtles, iguanas, lizards)
84
Phimotic foreskin trapped behind the coronal sulcus
Paraphimosis
85
Inability to pull back foreskin
Phimosis
86
Inflammation of the glans penis and foreskin in uncircumcised males
Balanoposthitis
87
Inflammation of the glans penis only
Balanitis
88
Findings on neuroblastoma
Presents within the first 5 years of life
Periorbital metastasis: Raccoon eyes (periorbital ecchymosis and proptosis)
Diarrhea (due to VIP secretion
Abdominal mass
89
Neonatal lupus erythematosus findings
Congenital heart block
Discoid or annual skin lesions
Periorbital erythema
Scaly atrophic patches
Telangiectasia
90
Lab testing for juvenile dermatomyositis
CK (creatine kinase)
91
Diagnostic criteria for juvenile dermatomyositis
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
92
Idiopathic hypercalciuria
Gross or microscopic hematuria and elevated (>0.2) spot urine calcium/creatinine ratio
93
Testicular volume by SMR
Before puberty: <4ml
SMR 2: 4-8mL
SMR 3: 8-12mL
SMR 4: 12-20mL
SMR 5: ~20mL
94
Peak height velocity mean age / SMR stages
Boys: 13.5 years (SMR 3-4)
Girls: 11.5 years (SMR 2-3)
95
Most common presentation of neonatal cerebral infarction
Focal seizures
96
Med that decreases renal clearance of lithium
NSAIDs
97
Cause of metatarsus adductus
Intrauterine crowding
98
C3/C4 differences in renal diseases
Postinfectious GN: Low C3, normal C4
IgA nephropathy: Normal C3
Lupus and MPGN: low C3, low C4
99
Scarlet fever findings
Scaraltiniform rash
Sandpaper like rash
Rash spares circumoral area, palms and soles
100
Clonidine toxicity
CNS and respiratory depression
Hypotension, bradycardia, pinpoint pupils
101
Dejerine-Klumpke palsy
C8-T1 brachial plexus injury (shoulder dystocia)
Claw hand (paralysis of intrinsic muscles of the and long flexors or the wrist and fingers)
Ipsilateral horner syndrome (miosis, ptosis anhidrosis)
102
Erb palsy
C5-C6 injury (shoulder dystocia)
Waiters tip (shoulder adduction and internal rotation, elbow extension, forearm pronation, wrist flexion)
103
Treatment for nasal septal hematoma
Immediate drainage of hematoma
Nasal packing + broad abx with staph coverage
Close ENT follow up
104
Pointed chin, butterfly vertebrae, heart murmur, jaundice
Alagille syndrome
105
Diagnostic test to confirm Alagille syndrome
Liver biopsy (confirm paucity of bile ducts)
106
Inheritance pattern of Shwachman-Diamond syndrome
Autosomal recessive
107
Characteristics of Shwachman-Diamond syndrome
Pancreatic insufficency
Neutropenia (chronic, intermittent or cyclic)
Bifid thumbs
Thoracic dystrophy
+/- anemia and thrombocytopenia
108
Langerhans cell histiocytosis histo findings
Birbeck granules (Rod and tennis racquet-shaped structures within the cytoplasm on electron microscopy)
109
Treatment for subluxation of radial head "Nursemaid's elbow"
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
110
Most common cause of subdural hematomas in infants
Child abuse
111
Findings in vitamin C deficiency
Follicular hyperkeratosis, perifollicular hemorrhage, petechiae, ecchymoses, gingivitis, arthralgia, anemia, impaired wound healing.
112
Follicular hyperkeratosis, perifollicular hemorrhage, petechiae, ecchymoses, gingivitis, arthralgia, anemia, impaired wound healing.
Vitamin C deficiency
113
Inheritance pattern of Hemophilia A
X linked recessive
114
Cause and findings of hemophilia A
Factor 8 deficiency
Easy bruising, hemarthrosis, bleeding due to oral injury or after invasie procedure
115
Use mama / dada specifically, 1-2 words
12 months
116
Rise independently, stand alone, take several steps without assistance
12 months
117
Use mature pincer grasp well
12 months
118
Walks well
15 months
119
Sits with support
6 months
120
Raking grasp
6 months
121
Babbles with consonants (baba/dada)
6 months
122
Male effects of chronic cannabis use
Decreased libido
Decreased sperm count and motility
Impotence
Gynecomastia
123
Body percentage for SJS vs TEN
SJS: <10%
TEN >30%
124
DSM-5 criteria for anorexia nervosa
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
125
Inheritance pattern of Wilsons disease
Autosomal recessive
126
Kayser-Fleischer rings
Wilson disease
127
Presentation of Wilsons disease
Psych symptoms
Elevated AST, ALT, bilirubin
128
Inheritance pattern of Smith-Lemli-Opitz syndrome
Autosomal recessive
129
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
Smith-Lemli-Opitz syndrome
130
Pathophysiology of Smith-Lemli-Opitz syndrome
Cholesterol metabolism
(Deficiency of 7-dehydrocholesterol reductase causing high 7-dehydrocholesterol and low total plasma cholesterol)
131
Full cheeks with sagging jowls and lips, sparse eyebrows and hair. Rare cause of subdural hematoma and retinal hemorrhage
Menkes disease
132
Inheritance pattern of Tay Sachs
Autosomal recessive
133
Cherry red spot on retina
Tay Sachs
Deficiency of beta-hexosamidase
134
Motor dysfunction similar to CP, behavior disturbances and self mutilation
Lesch-Nyhan syndrome
X-linked
HGPRT deficiency
135
Ocular difference between Marfan and homocystinuria
Marfan: UPWARD lenses subluxation
Homocystinuria: DOWNWARD lens subluxation
136
Distinction between Marfan and homocystinuria
Homocystinuria has ID, psych illness, thinning of light skin, livedo reticularis, propensity for vascular thrombosis
137
Seizures, ID, microcephaly, ataxia, hand-flapping "happy puppet"
Angelman syndrome
138
Periorbital fullness with prominent, down-turned lower lip, friendly "cocktail party" personality, strabismus, stellate pattern of iris, supravalvular aortic stenosis
Williams syndrome
139
Cleft palate, ear abnormalities, thymus agenesis or hypoplasia, parathyroid gland hypoplasia or agenesis (hypocalcemia), cardiac anomalies (TOF > interrupted aortic arch > VSD > truncus arteriosus)
DiGeorge syndrome
140
Empiric treatment for toxic shock syndrome
Clindamycin + vancomycin
141
Qualifications for 504plan
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)
142
Natal teeth truths
Most are prematurely erupting deciduous teeth
Do not need early extraction
Rarely associated with genetic syndromes
143
Pierre Robin sequence triad
Micrognathia, glossoptosis, airway obstruction
144
2 most common syndromes associated with Pierre Robin Sequence
Stickler syndrome and 22q11.2 deletion syndrome
145
Test to distinguish between urea cycle disorder vs organic acidemia
Urine organic acids
146
Antipsychotics approved for aggressive behavior in children with ASD
Risperidone and aripiprazole
147
Inheritance pattern of HCM
Autosomal dominant
148
Causes of ACS in children with SCD
Infection, infarction, atelectasis or fat embolism from the bone marrow
149
Kallman syndrome diagnostic criteria
Anosmia and hypogonadism
+ one of the following
Red/green color blindness
Cleft lip/cleft palate
Urogenital tract anomalies
Neurosensory hearing loss
Mirror movements
150
Blue sclera and generalized osteoporosis
Osteogenesis imperfecta
151
Long eyelashes, thin confluent eyebrows, short nose with long thin philtrum and downturned upper lip, hirsutism, hand anomalies
Cornelia de Lange syndrome
152
Chromosome associated with Beckwith-Wiedemann syndrome
11p chromosome
153
Macrosomia +/- hemihyperplasia, hypoglycemia, hypercalciuria, macroglossia
Beckwith-Wiedemann syndrome
154
Increased tumor risk in Beckwith-Wiedemann syndrome
Wilms tumor
Adrenocortical carcinoma
Hepatoblastoma
155
Imaging of choice for suspected kidney stones
Helical CT
156
Cause of late onset (>72hr of life) hypocalcemic seizures
Hypoparathyroidism
157
Sepsis from Clostridium septicum
Cyclic neutropenia
158
Abdominal pain, anemia, failure to thrivr, tooth enamel defects
Celiac disease
159
Management of infant born to HepBAg positive mom
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
160
Genetics of Noonan syndrome
Autosomal dominant with variable expression
Gene mutation on chromosome 13
Normal karyotype
161
Vaccines needed to be delayed after IVIG
Varicella and MMR delayed by 8-10 months after IVIG
162
Pruritic, reddish brown macules and papules which evolve into vesicular and necrotic lesions as new ones appear
PLEVA (pityriasis lichenoides et varioliformis acuta)
163
Treatment of PLEVA
Oral erythromycin
164
Etiology of hand foot mouth disease
Coxsackievirus A16
165
Periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis
PFAFA syndrome
Symptoms recur q4weeks and last about 5 days
Treat with prednisone (1mg/kg, max 60mg) x1
166
Skin lesions associated with neuroblastoma
Subcutaneous bluish nodules and periorbital ecchymoses associated with proptosis
167
4 stages of acetaminophen toxicity
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
168
Limitations of acetaminophen toxicity nomogram
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
169
Well circumscribed, hairless, yellowish-to-tan plaque most often on face or scalp
Nevus sebaceous
170
Unilateral bluish-gray path on the face (distribution of the 1st and 2nd divisions of the trigeminal nerve)
Nevus of Ota
171
Bluish gray patch over the shoulder, sides of neck, upper arms and/or scapula
Nevus of Ito
172
Nasal or oral inflammation, abnormal CXR or CT, hematuria, vascular granulomatous inflammation on biopsy
+ANCA supports diagnosis
Granulomatosis with polyangitis
Must have 2 or more of above for diagnosis
Treat with prednisone + methotrexate or cyclophosphamide
173
Reed-Stenberg cells
Hodkin lymphoma
174
Categories of neutropenia
Mild ANC 1000 - 1500
Moderate ANC 500 - 1000
Severe ANC <500
175
Vaccines that can temporarily suppress TST reactivity if given before PPD placement
MMR, varicella and live attenuated influenza vaccines
*If not given in same visit, must wait 4-6 weeks in between
176
Type of anemia associated with Diamond-Blackfan anemia
Macrocytic anemia
177
Most common mechanism to cause SVT in neonate, infant and child
Atrioventricular reentry (followed by abnormal or ectopic automaticity)
178
Minimum dose interval between dose 2 and 3 of HPV
12 weeks
179
Leading medication triggers of SJS/TEN
Carbamazepine, phenobarbital, TMP/SMX, lamotrigine, NSAIDs
180
Treatment for prolonged QT syndrome
Beta blockers
Also consider: pacemaker, ICD or surgical ablation
181
Eczema, X-linked immunodeficiency and thrombocytopenia
Wiskott-Aldrich sydrome
182
Organisms responsible for reactive arthritis
GI: Shigella, salmonella, campylobacter, C. Diff, giardia, yersinia
GU: gonorrhea, chlamydia,
183
Mitten hand deformity (fusion of index middle, ring and 5th digit)
Apert syndrome
184
In premature infant: hemolytic anemia, edema, thrombocytosis
Vitamin E deficiency
185
Minimum interval between Hep A vaccines
6 months
186
Lab abnormality in Lesch-Nyhan syndrome
Elevated serum and urine uric acid levels
187
Absent or hypoplastic radii with present thumbs + thrombocytopenia
TAR syndrome (thrombocytopenia with absent radius)
188
Lab testing prior to isotretinoin
Fasting triglycerides and cholesterol, liver function tests
2 negative pregnancy tests
189
Management of osteochondroma
Clinical monitoring with radiograph in 6 months
190
Timeframe of highest risk of severe or fatal varicella in newborns
If mother develops varicella from 5 days before to 2 days after delivery
191
Arched eyebrows, long eyelashes, long openings of the eyelids with lower lids turned out, flat broadened tip of the nose, large protruding earlobes
Kabuki syndrome
192
X-ray: calcified soft tissue mass with peripheral bone maturation, separate from the bone
Myositis ossificans
193
Crystals seen in ehtylene glycol ingestion
Calcium oxalate crystals
194
Contraindications to intranasal flu vaccine
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.
195
Primary role of 1,25 OH2-D
Stimulate absorption n of Ca and P from small intestine and maintenance of calcium levels in bone
196
Treatment for cutaneous larva migrans
Oral albendazole or oral ivermectin
197
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
Charcot-Marie-Tooth disease
198
Inheritance pattern of Duchenne muscular dystrophy
X-linked recessive
199
Uses cup well, scribbles well, 10-25 words, 4 cube tower, 4 body part identification
18 months
200
Runs well, walk up and down stairs with 2 feet on each step, 6 cube tower, 2 words together, uses spoon well
24 months
201
“Doughy” feel to skin
Hypernatremic dehydration (or Ehlers Danlos) depending on context
202
Age for referral to ophthalmology for non-resolving congenital nasolacrimal duct obstruction (dacryostenosis)
6 months
203
Mottling over trunk with reddish-violaceous, reticulated patches with sharp demarcation at midline that does not improve with warming
Cutis marmorata telangiectatica congenita (asssociated with other congenital anomalies)
Physiologic cutis marmorata improves with warming
204
Osteochondritis and periostitis usually involving metaphyses and diaphysis of long bones
Congenital syphilis
205
Postexposure immunization timeframe for varicella
3-5 days after exposure
206
Normal head circumference at birth. Macrocephaly concurrent to seizure and developmental delay
Metabolic megalencephaly
207
Treatment for first recurrence of C. Diff
Oral metronidazole (or oral vancomycin)
Beyond first recurrence: fidaxomicin
208
Hyperkyphosis and wedging of >5degree in at least 3 consecutive vertebral bodies on x-ray
Scheuermann kyphosis
209
Random syndrome name for mullerian agenesis (underdeveloped or absent uterus/vagina) with normal external genitalia
Mayer-Rokitansky-Kuster-Hauser syndrome
210
Fever abdominal and testicular pain + swelling of knees and ankles
Mediterranean fever (familiar paroxysmal polyserositis, familiar recurrent polyserositis)
211
Primitive reflex that appears between 8-9 months of age
Parachute
212
Port wine stain + leptomeningeal angioma
Sturge-Weber syndrome
213
Inheritance pattern of Peutz-Jeghers syndrome
Autosomal dominant
214
Recurrent bacterial and fungal pneumonias
Chronic granulomatous disease (CGD)
215
Test for CGD (Chronic granulomatous disease)
Dihydrorhodamine test
216
Order of teeth eruption
Mandibular central incisors (6-10 months)
Maxillary central incisors
Lateral incisors
First molars
Canines
Second molars
217
Age to refer to dentist if no teeth eruption
18 months
218
Age by which teeth eruption is usually complete
24-36 months
219
DUMBELS (defecation, urination, miosis, bronchorrhea/bronchospasm/bradycardia, emesis, lacrimation, salivation)
Organophosphate poisoning
220
Diseases associated with recurrent aphthous stomatitis (aphthous ulcers)
Crohns, Behcet, cyclic neutropenia, PFAFA and celiac
221
Features of MPS Type 2 (Hunter syndrome)
Developmental delay, communicating hydrocephalus, coarse facial features, prominent forehead, hypertelorism, hepatosplenomegaly, joint stiffness, myocardial hypertrophy
222
Inheritance pattern of MPS Type 2 (Hunter syndrome)
X-linked
223
Meds that precipitate hemolysis in G6PD-deficiency
Aspirin, nitrofurantoin, chloramphenicol, antimalarials, vitamin K analogs
224
Generalized hypotonia, decreased muscle mass, diffuse weakness. Associated ptosis, poor suck, diminished tendon reflexes, undescended testes. Hx of polyhydramnios
Myotubular myopathy
X-linked recessive
Normal CK, abnormal muscle biopsy
225
Treatment for B. henselae infection
Azithromycin, rifampin, ciprofloxacin, TMP/SMX
226
Unilateral nonpurulent conjunctivitis - sometimes associated with ocular granuloma and ipsilateral preauricular lymphadenitis
Parinaud occuloglandular syndrome (atypical catscratch disease)
227
Treatment for acute priapism in SCD
IV hydration, oxygen, pain meds
If no response in 4-5 hours : exchange transfusion or hypertransfusion
228
Most common organisms to cause IE in children
Viridans group strep and S. aureus
229
X-ray: long bone with ground glass appearance, thin bony cortex, sharply outlined metaphyseal ends
Vitamin C deficiency (scurvy)
230
X-ray: long bone with opaque, transverse metaphyseal bands that appear growing tubular bones
Lead lines (Lead poisoning)
231
LGA, macrocrania, accelerated growth rate that normalizes at age 5. Large hand and feet, ID, monotone voice, behavior issues
Sotos syndrome
232
Liver association with ARPKD (autosomal recessive polycystic kidney disease)
Congenital hepatic fibrosis
233
Inheritance pattern of Fanconi anemia
Autosomal recessive
234
Abnormal skin pigmentation, short stature, microcephaly, abnormal radii, absent or abnormal thumbs, renal abnormalities
Fanconi anemia
235
Cancers associated with Fanconi anemia
AML, squamous cell carcinoma, hepatic tumors
236
Peripheral smear with mild thrombocytopenia and giant, abnormal platelets
Bernard-Soulier syndrome
237
Hypoketotic hypoglycemia, hepatomegaly, elevated liver enzymes
MCAD deficiency (medium-chain-acyl-CoA dehydrogenase)
Treat with carnitine
238
Treatment for tularemia
Gentamicin or streptomycin
239
Vaginal infections with normal pH (4-4.5)
Chlamydia, gonorrhea, candida
240
Vaginal infections with high pH (>4.5)
BV and Trichomonas
241
Salter-Harris fracture classification system for physeal fractures
Type 1: Straight across
Type 2: Above
Type 3: Lower
Type 4: Two or Through
Type 5: Rammed together
242
Characteristic of brown recluse spider bite
Hemorrhagic vesicle and eschar formation
243
Characteristic of black widow spider bite
Severe generalized cramping pain within 30-60mins of the bite
244
Therapy for exercise induced bronchospasm in addition to albuterol pre-exercise
Daily leukotriene receptor antagonist
245
Apical systolic murmur with midsystolic apical click
Mitral valve prolapse
246
Harsh holosystolic murmur best hear at the mid-to-lower sternal border
VSD
247
Systolic ejection murmur with fixed split S2
ASD
248
Prenatal toxicity associated with Epstein anomaly
Lithium
249
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
Epstein anomaly (associated with prenatal lithium exposure)
250
Definition for delayed onset of puberty in males
Lack of testicular enlargement by 14 years of age
251
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
Venous hum (benign finding)
252
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
LVOT from HCM
253
Discrete, firm papules and annular plaques without scale. Most often on lateral or dorsal surfaces of the hands, feet, wrists and ankles.
Granuloma annulare
254
Best streptococcal antibody titer to document recent impetiginous infection
Antibodies to deoxyriboonuclease B (DNase B)
255
Early sign of autism
Absence of social smile by 6 months
256
SMR staging for breast
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
SMR staging for pubic hair in girls
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
Chromosome involved in Angelman and Prader-Willi syndrome
Chromosome 15
259
Absence epilepsy EEG finding
3-Hz spike and wave pattern
260
Basophilic stippling
Lead poisoning
Can also be seen in thalassemia, chronic etoh abuse, sickle cell anemia, megaloblastic anemia and sideroblastic anemia
261
Appearance of post-term infant
Dry, peeling skin and less than normal subcutaneous tissue. Long fingernails +/- meconium staining of the skin, cord and nails
262
Indications for growth hormone therapy
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
Age by which rooting reflex should be suppressed
4 months
264
Timeframe of Moro reflex
Birth to 3-6 months
265
Adverse effects of growth hormones (esp. athletes)
Peripheral edema, insulin resistance, hyperglycemia, hypertension, cardiomegaly, myalgia/arthralgia
266
Dietary changes to prevent recurrent calcium oxalate stones
Less vitamin C, animal protein, sucrose and fructose, sodium
More calcium, water, potassium, fruits and vegetables
267
Donovan bodies (encapsulated gram negative rods) on Wright side
Granuloma inguinale (organism: Klebsiella granulomatous)
268
Risk factors for cerebral edema in DKA
<5 years of age, new-onset diabetes, low initial PCO2, high initial BUN, treatment with bicarbonate, lesser increase in sodium with therapy
269
X-ray: Hypoplasia of several facial bones, including malar, zygomatic, lateral pteygoid plates and mandibular condyles
Treacher-Collins syndrome (mandibulofacial dysostosis)
270
Work-up for precocious puberty in females
LH/FSH, estradiol
271
X-ray: Snowman sign (large supracardiac shadow lying above cardiac shadow)
Supracardiac anomalous venous return in which all (TAPVR) or some (partial) of the pulmonary veins drain into the left atrium
272
Causes for fake hyperkalemia
Thrombocytosis (450K), leukocytosis (>100K), hemolyzed specimen
273
Inheritance pattern of G6PD deficiency
X-linked recessive
274
Systolic ejection murmur associated with systolic click along LUSB
Pulmonic stenosis
275
Drug rash with eosinphilia and systemic symptoms
DRESS syndrome
Tx: remove agent, supportive care, steroids
276
Recurrent epistaxis, multiple telangiectasias on lips, tongue and palate.
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Autosomal dominant
277
Calcifications of CMV vs toxo
CMV: periventricular
Toxo: brain parenchyma, especially caudate nucleus and basal ganglion
278
Protein requirements by age
<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
Well defined, triangular, whitish, thickened areas adjacent too the limbus of both eyes
Bitot spots, seen in vitamin A deficiency
280
Growth pattern during puberty in females
Maximal growth velocity 1-2 years after thelarche, slows after menarche and stops ~2 years after menarche
281
Punctate petechial lesions of vaginal wall and cervix
Trichomonas
282
Anemia, leukocytosis, thrombocytopenia and elevated Cr after gastroenteritis
HUS
283
Dev delay, macrocephaly, hearing loss, coarse facial features, joint stiffness, hepatosplenomegaly, thickened skin, corneal clouding, congenital dermal melanocytosis
Mucopolysaccharidosis Type 1 (Hurler syndrome)
Autosomal recessive
Lysosomal enzyme deficiency
284
Migraine medication associated with acute angle closure glaucoma
Topiramate
285
Discrete, cystic, pea sized mass with overlying pore midway along anterior margin of sternocleidomastoid muscle
Branchial cleft cyst
286
X-ray: wavy cortical hyperostosis of the bones, sparing metaphyseal area
Hypervitaminosis A
287
Timing for Hep B vaccine in premature <2kg infant
1 month of chronological age or discharge whichever is first
288
Dumb calculation for drawing body parts
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
EEG findings for benign rolandic epilepsy (BECTS)
Centrotemporal sharp waves (or spikes)
290
Hearing loss, heterochromia, cutaneous hypopigmentation, broad nasal bridge, hair hypopigmentation (white forlock)
Waardenburg syndrome
PAX3 gene mutation
291
Very high hyperammonemia (respiratory alkalosis later in presentation) and + low urine orotic acid
CPS deficiency (carbamoyl phosphatase deficiency)
292
Very high hyperammonemia (respiratory alkalosis later in presentation) + high urine orotic acid
OTC deficiency (OOrnithine transcabamylase deficiency)
293
Age after which MMRV can be given without increased risk of febrile seizures
>48 months
294
Medium pitched systolic ejection murmur best heard at LUSB, radiating to RUSB and posterior lung fields and axillae
Functional peripheral pulmonary artery stenosis
295
Indications for hospitalization in anorexia nervosa (other than obvious cardiac/electrolyte stuff)
SBP <90
Weight <75% median body mass
HR <50 awake, <45 asleep
Temp <96F (35.5C)
296
Indications for hospitalization in anorexia nervosa (other than obvious cardiac/electrolyte stuff)
SBP <90
Weight <75% median body mass
HR <50 awake, <45 asleep
Temp <96F (35.5C)
297
Ataxia, lower extremity weakness, cardiomyopathy, eye and ear abnormalities, hypoactive or absent DTRs, bony abnormalities, pyramidal signs (Babinski)
Friedreich ataxia
Autosomal recessive
298
Trisomy associated with Brushfield spots
Trisomy 21
299
Difference between CAH from 21-hydroxylase deficiency and 11beta-hydroxylase deficiency
Hypertension is present in 11beta-hydroxylase deficiency
300
Most common type of craniosynostosis
Premature fusion of the midline sagittal suture
301
ECG: right axis deviation, RVH, slightly prolonged QRS, rsR pattern on precordial leads
Secundum ASD
302
Endocrine disorder associated with SCFE
Hypothyroidism and growth hormone deficiency
303
VSD, clenched hands with polydactyly, polycystic kidneys, holoprosencephaly, cutis aplasia
Trisomy 13
304
Triad of cafe au lait skin pigmentation, polyostotic fibrous dysplasia autonomous endocrine hyperfunction
McCune-Albright syndrome
Can present with isolated early menstrual bleeding
305
Autoimmune thyroid disease, Type 1 DM, Primary adrenal insufficiency
Autoimmune polyglandular syndrome type 2
306
Primary adrenal insufficiency, chronic mucocutaneous candidiasis, Hypoparathyroidism
Autoimmune polyglandular syndrome Type 1
307
Inheritance pattern of tuberous sclerosis
Autosomal dominant
308
Adenoma sebaceous, hypopigmented macules (ash leaf spots), periungual fibromas, shagreen patches
Tuberous sclerosis
309
Uses 10-25 words, follows simple commands, identifies 2-4 body parts
18 month
310
Female with regression of milestones, handwringing, seizures and increased risk of sudden cardiac death
Rett syndrome
311
Sweet odor of urine and earwax
Maple syrup urine disease
312
Lifts head to 90 degrees when lying prone
4 months
313
Can lift head off table in anticipation of being lifted
6 months
314
Transfers object from hand to hand
6 months
315
Sits with support
6 months
316
Hyperammonemia + metabolic acidosis
Organic acidemia (methylmalonic acidemia and propionic acidemia)
317
Macrocephaly, Hypotonia/dystonia with metabolic stressor/fever. Subdural hematoma/retinal hemorrhage
Glutaric acidemia Type 1
Autosomal recessive
318
Macrocephaly, Hypotonia/dystonia with metabolic stressor/fever. Subdural hematoma/retinal hemorrhage
Glutaric acidemia Type 1
Autosomal recessive
319
Lab test used in newborn screening to detect SCID
T-cell receptor excision circles
320
X-ray: "Boot shaped" uplifted cardiac apex (RVH) and concavity of the upper left heart border (hypoplasia of pulmonary artery segment)
Tetralogy of Fallot
321
Walks up and down stairs with 1 foot on each step
4 years
322
Jump off ground with 2 feet up
30 months
323
Can skip
6 years
324
Malignancy associated with NF1, especially <6yrs of age
Optic pathway glioma
325
Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye abnormalities, sternal clefting/supraumbilical abdominal raphe
PHACE(S) syndrome
326
Pulls to stand
9 months
327
Offer toy to adult, stand briefly
11 months
328
Walk without help, mature pincer grasp
12 months
329
X-ray: dysostosis multiplex in the lower thoracic and upper lumbar vertebrae
Hurler syndrome (Mucopolysaccharidosis Type 1)
330
X-ray: fibrous dysplasia of the long bones
McCune-Albright syndrome
331
Cooperative play
3-4 years
332
Dress independently
3 years old
333
Age by which masters buttons
4 years
334
Macrosomia, macroglossia, hypoglycemia, ear creases/pits, hemihypertrophy and visceromegaly
Beckwith-Wiedemann syndrome
335
Most common cause of congenital hypothyroidism
Thyroid dysgenesis
336
Jugular vein septic thrombophlebitis
Lemierre syndrome
337
Treatment for ichthyosis vulgaris
Emollient with alpha hydroxy acid
338
Precautions for measles
Airborne
339
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
Diaphragmatic paralysis due to phrenic nerve injury
Occurs with injury to 3rd to 5th cervical root injury
340
Bilateral acoustic neuromas
Unilateral acoustic neuroma + 2 of the following:
Meningioma, glioma, schwannoma, juvenile cataracts, cortical wedge cataract
Neurofibromatosis type 2
341
Light pigmented skin, eczema, blond hair and blue eyes + developmental delay and seizures
PKU
Tx: dietary restriction of phenylalanine
Enzyme involved: phenylalanine hydroxylase
342
Feeding difficulties, strabismus, opisthotonic posturing. Huge liver and spleen
Gaucher disease
Enzyme involved: glucocerebrosidase
343
Marked hypotonia, absent tendon reflexes, weakness of the intercostal musculature, tongue fasciculations (birth to 6 months)
Spinal muscular atrophy Type 1
344
Failure of segmentation and fusion of >2 cervical vertebrae + one or both scapula small and high-riding
Klippel-Feil syndrome
345
GI disorder associated with Kawasaki disease
Gallbladder hydrops (RUQ mass with overdistended, balloon shaped gallbladder on ultrasound)
346
First line treatments for infantile spasms
ACTH, oral prednisolone and oral vigabatrin
347
6-24 month old with horizontal nystagmus, torticollis and slow head nodding
Spasmus nutans
*Still needs complete evaluation before calling it that, needs f/u with Ophtha
348
Duration of doxycycline malaria prophylaxis
1-2 days prior to departure, through travel and for 4 weeks after travel is complete
349
Stacks 8 blocks has at least 100 words
30 months
350
Inheritance pattern of incontinentia pigmenti
X-linked dominant (lethal in hemizygous males)
351
Vitamin deficiency associated with chelosis and sore tongue
Riboflavin (B2)
352
Vitamin deficiency associated with neonatal seizures non-responsive to antiseizure therapy
Pyridoxine (B6)
353
Gestational age in which creases in the soles appear
31-32 weeks
354
Gestational age in which incurving of the pinna occurs
36-38 weeks
355
Gestational age by which the labia majora nearly covers the clitoris
36-39 weeks
356
Gestational age by which lanugo limited to the shoulders is expected
38-41 weeks
357
Gestational age by which testes appear in the upper scrotum
36-39 weeks
358
Hypoglycemia after fasting or stress + negative urinary ketones and reducing substances + hepatomegaly
Fatty acid oxidation disorder (FAOD)
Medium-chain acyl-CoA dehydrogenase deficiency is the most common FAOD
359
Treatment to consider in serotonin syndrome not responding to benzos
Cyproheptadine
360
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
Incontinentia pigmenti
361
Rake without grasping
6 months
362
Scissors grasp
8 months
363
Pincer grasp
10 months
364
Fine pincer grasp
12 months
365
Peripheral smear with increased lymphocytes including atypical lymphocytes with viral infection
EBV
366
Routine screening for collegiate athletes recommended by NCAA
Sickle cell test
367
Average age for urine and stool day continence
30 months
368
Most children achieve full toilet training (daytime)
3-4 years
369
Most children complete nighttime toilet training
5-7 years
370
Ocular findings associated with albinism
Nystagmus, strabismus, photophobia, decreased visual acuity
371
Marked hypotonia and cardiomegaly in an infant who was normal at birth
Type 2 glycogen storage disorder
Autosomal recessive
372
Infant with muscle weakness, hepatomegaly, severe cardiomegaly, normal mental dev, normal glucose. ECG with short PR interval and high voltage QRS
Type 2 glycogen storage disorder
373
Infant with severe and rapid hypoglycemia resulting in seizures, hepatomegaly and failure to thrive
Type 1 glycogen storage disease (von Gierke disease)
374
Wilms tumor, aniridia, genitourinary anomalies, reduced intellectual disability
WAGR syndrome
375
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
Chediak-Higashi syndrome
376
Recurrent sinopulmonary infections, no tonsils or lymph nodes, absent IgG, IgA and IgM in male
X-linked agammaglobulinemia
377
Newborn or infant with discoid lesions (annular, scaling, pinkish plaques), periorbital erythema and congenital heart block
Neonatal lupus erythematosus
378
Minimum interval between dose 1 and 2 of varicella if starting series <13 years of age
3 months
379
Minimum interval between dose 1 and 2 of varicella if starting series >13 years of age
28 days
380
Infant with hepatorenal dysfunction without hypoglycemia. FTT, hepatomegaly with hepatoblastoma and liver failure are common. Autosomal recessive
Tyrosinemia type 1 (hepatorenal tyrosinemia)
Dx: urine succinylacetone levels
Tx: NTBC
381
Compressible, nonpulsatile mass on posterolateral side of neck that transilluminates well and does not involve underlying tissue in newborn
Cystic hygroma
382
90% of infants demonstrate social smile
2 months
383
Marcus Gunn (jaw winking) phenomenon
Simultaneous eyelid blinking during sucking jaw movements
Cause: Abnormal innervation of the trigeminal and oculomotor nerve
384
Immunizations administered as subcutaneous injections
MMR
Varicella
IPV (can be IM or SC)
385
Lab tested in newborn screen for MSUD
L-alloisoleucine
Tx: Diet with branched-chain amino acid restriction (leucine, isoleucine, valine)
386
X-ray: Massive right atrial enlargement and "wall to wall" or "box shaped" heart
Epstein anomaly of the tricuspid valve
387
Virus associated with reactivation of DRESS syndrome
HHV-6 (also hh-7, cmv or ebv)
388
Prominent postauricular and suboccipital lymphadenopathy + fine, discrete, irregular, pinkish-red macules on face and trunk
German measles (Rubella)
389
Common infectious causes of bloody and/serosanguineous vaginal discharge and vulvovaginitis
Shigella flexeri, Shigella sonnei and group A Streptococcus
390
Jaundice, splenomegaly, gallstones + spherocytes on smear
Hereditary spherocytosis
391
Rule of 9s for BSA calculation of burns
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
Scribbles and starting to use cup, makes a tower 2-3 cubes
15 months
393
Scribbles and uses cup well + tower of 4 blocks
18 months
394
Draw a square, copy a cross, use fork well, draw a person with 4-6 body parts
4 years
395
Vitamin deficiency associated with cardiomegaly with heart failure and generalized edema. Usually preceded by malaise, severe fatigue, apathy, irritability, abdominal distention and anorexia
Thiamine (B1)
396
Whitish lines running across teeth, chalky brownish enamel discoloration and/or dental pitting
Fluorosis (excessive fluoride)
397
Prenatal drug exposure associated with nasal hypoplasia and stippled epiphyses
Warfarin fetal syndrome
398
Tourette diagnostic criteria
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
PPV equation
PPV = TP/(TP+FP)
400
Tests to be done on entry into US (international adoptees and refugees)
Hep C, HepBsAg, syphilis, HIV, CBC + diff, lead, stool O&P, TST
401
Parkland formula for burns
4mL/kg x weight (kg) x BSA affected (%)
402
Screening test for Lesch Nyhan syndrome
Urinary urate-to-creatinine ratio
403
Microcephaly, "greek warrior" helmet nose, high anterior hairline with prominent glabella, small jaw, ear pits.
Wolf-Hirschhorn syndrome (4p- deletion)
404
Who needs screening for ROP
Infants born 30WGA or lower
Birthweight <1500
405
Male infant with bilateral hydroureteronephrosis and distended urinary bladder
Posterior urethral valve
406
Deficiency associated with breath holding spells
Iron deficiency
407
Conditions that can cause spontaneous pneumothorax
Asthma, cystic fibrosis, chronic lung disease of prematurity, Marfan syndrome and Ehlers-Danlos
408
Biochemical features of homocystinuria
Elevated total serum plasma homocysteine, elevated methionine level of serum amino acid analysis
409
CHF + deep Q waves in inferior leads (II, III, AVF)
Anomalous left coronary artery from the pulmonary artery (ALPACA)
410
Test for primary ciliary dyskinesia
Exhaled nasal nitric oxide
411
Treatment for common warts
Topical salicylic acid
412
Inheritance pattern of achondroplasia
Autosomal dominant
413
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
Ranula
414
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
Osteochondritis dissecans
415
Random lab test elevated in lead poisoning
zinc protoporphyrin and erythrocyte protoporphyrin
416
Cyanotic at birth, ECG with left superior axis deviation, right atrial enlargement and LVH. CXr with decreased pulmonary vasculature
Tricuspid atresia
417
Complications of unrepaired tetralogy of Fallot with right to left shunting
Brain abscesses, cerebral thrombosis with hemiplegia and infective endocarditis
418
Mucosal neuromas, tall, thin body habitus, full lips, joint laxity, alacrima
Multiple endocrine neoplasia type 2B
Associated with medullary thyroid carcinoma and pheochromocytoma
419
Labs in diabetes insipidus
Low urine specific gravity on first voided urine morning specimen and normal to high serum sodium
420
Infant with corneal clouding, photophobia and chronic or intermittent tearing
Congenital or early-onset glaucoma
421
Genetic syndrome caused by by expansion of CGG repeats in the FMR1 gene
Fragile X syndrome
422
Common adverse events of the ketogenic diet
Gastrointestinal complaints, hyperlipidemia, and kidney stones.
423
GI disease associated with Waardenburg syndrome type 4
Hirschsprung disease
424
Prominent white forelock, wide nasal bridge, sensorineural deafness, heterochromia iridis, and in some types, lateral displacement of the inner canthi.
Waardenburg syndrome
425
Risk factors for post-concussive syndrome
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
Prenatal exposure associated with persistent pulmonary hypertension of the newborn
SSRIs
427
Hematologic condition associated with Noonan syndrome
Factor 11 deficiency
Can also see thrombocytopenia
428
Prenatal ingestions associated with gastroschisis
Cocaine, nicotine, pseudoephedrine
429
Scoliosis degree in which to consider bracing
25-45
430
Recommended delivery room temperature
22-26C (71-78F)
431
Medications that can cause telogen effluvium
Beta blockers, amphetamines, ACE-inhibitors, OCPs, retinoids, lithium
432
Timeframe to repeat hearing testing if failed newborn screeen
3 months
433
Adverse effects of ß-blocking drugs
Hypotension, bradycardia, conduction delays, bronchospasm, and hypoglycemia.
434
Metabolic derangements that children with CF are at risk for
Hypochloremia, hyponatremic dehydration
Hypokalemia
Metabolic alkalosis
435
Inheritance pattern of myotonic dystrophy type 1
Autosomal dominant
Caused by CTG trinucleotide repeat expansion of the gene DMPK.
436
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.
Herpangina
Most commonly caused by enterovirus like coxsackie
437
Baby with heart failure + prominent Q waves on ECG
Anomalous coronary artery from the pulmonary artery (ALCAPA)
438
Test to diagnose protein losing enteropathy
Fecal α1-antitrypsin level
439
Low TREC (T-cell receptor excision circle) on newborn screen
Primary immunodeficiency (SCID)
Tx: prophylactic antimicrobials (TMP/SMX, fluconazole)
440
Diseases requiring Airborne precautions
Measles, TB, Varicella
441
Diseases requiring droplet precautions
Adeno, flu, mumps, invasive neiseria meningitidis, pertussis, parvo B19, rhinovirus
442
Diseases requiring contact precautions
Enteroviruses, HSV, MDR organisms, paraflu, RSV, scabies, shigella, S. aureus if abscess
443
Presentation of benign rolandic epilepsy
Preservation of consciousness, speech arrest, hypersalivation, facial and arm clonic movements. +/- GTC seizures
444
Genetics. of fragile X
Expansion of a repetition of a single trinucleotide gene on chromosome X (Xq27.3)
445
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"
Bloom syndrome
Autosomal recessive
Gene 15q26.1
446
Acute febrile neutrophilic dermatosis
Fever, painful skin lesions on arms, neck, face and back
Sweet syndrome
447
Maternal condition associated with caudal regression syndrome
Diabetes
448
Metaphyseal fraying and cupping + widening of epiphyses
Rickets (vitamin D Deficiency)
449
Ocular condition associated with nevus of Ota (oculodermal melanocytosis)
Glaucoma
450
Post-streptococcal resolution times
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
Prophylactic antibiotics that should be given after an avulsed tooth is replaced.
Doxycycline or amoxicillin should be given after an avulsed tooth is replaced.
452
Recurrent fevers, urticaria and joint pain + sensorineural hearing loss in adolescence
CAPS (cryopyrin associated periodic syndromes)
Tx with anakinra, rilonacept, canakinumab (IL-1 inhibitors)
453
Academic difficulty, impulsivity, behavioral outbursts + gait abnormalities, slurred speech and deterioration in fine motor skills + hyperpigmentation
Adrenoleukodystrophy
X linked recessive
Accumulation of very long fatty acids in CNS , PNS and adrenal glands
454
Infections associated with triggering Stevens Johnson syndrome
Mycoplasma pneumoniae and CMV
455
Critical labs to order during hypoglycemia episode to determine endocrine cause
Cortisol, growth hormone, insulin, c-peptide, ketones
456
Most common known gene defect in hereditary pancreatitis
PRSS1
Others are CFTR, SPINK1, CRTC
457
Gene associated with Alagille syndrome
JAG1 (Absence or mutation)
458
Achalasia, alacrima, ACTH-resistant adrenal insufficiency
Triple A or Allgrove syndrome
459
Diagnosis for Gaucher disease
Glucocerebrosidase
460
Exaggerated startle reflex, loss of motor skills, hypotonia, hyperreflexia, macular cherry red spot
Tay Sachs disease
461
"Erlenmeyer flask" deformity on X-ray
Gaucher disease
462
Viral exanthem with palpebral/periorbital edema (Berliner sign)
Roseola
HHV 6 / HHV 7
463
Genetic male with undervirilization. Normal testosterone elevated testosterone:DHT ratio
5 alpha reductase deficiency
Autosomal recessive
Güevedoce
464
Defect/microfracture in the pars interarticularis (in gymnast, ballet dancer or wrestler)
Spondylolysis
465
Bilateral pars articularis defects with subluxation of one vertebra over another
Spondylolisthesis
466
Physiology of Ebstein anomaly
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
Brain imagining findings in Sturge-Weber syndrome
Dilation of ipsilateral ventricle (to facial nevus), calcification and cerebral atrophy.
468
ECG findings in Epstein anomaly
Tall peaked P waves in lead II and V1
Right axis deviation
RBBB pattern
Can be associated with WPW
469
Diarrhea after water park or swimming pool
Diarrhea after petting zoo
Small round oocysts in stool
Cryptosporidium
Treat with nitazoxanide
470
RTA type 1 associations
Nephrolithiasis, nephrocalcinosis
471
RTA type 2 associations
Fanconi syndrome (loss of bicarb, phos, glucose and amino acids)
472
RTA type 4 associations
Hyperkalemia, adrenal failure, CAH, DM
473
Most common organisms to cause brain abscess in neonate
Citrobacter koseri
Cronobacter sakazakii
Proteus
Less likely E. coli
474
Features to differentiate Smith-Lemli-Opitz syndrome from Trisomy 18
Trisomy 18 has clenched fist and rocker bottom feet
475
Retinitis pigmentosa, obesity, developmental disabilities, polydactyly, genital hypoplasia, hypogonadism
Laurence-Moon-Biedl/Bardet-Biedl syndrome
*looks like prader willi but they say retinitis pigmentosa
476
Antiseizure med associated with hyponatremia
Oxcarbazepine
477
Potential complication of hyphema
Glaucoma
478
Description of coloboma of the eye
Keyhole like or notch like defect in the pupil and iris.
Associated with nystagmus and microphthalmia
479
Holliday Segar method for fluid replacement
First 10kg = 100ml/kg
Second 10kg = 50ml/kg
Above 20kg = 20ml/kg
If given deficit its %of deficit x weight in kg
480
Gene mutation in nail patella sydrome
LMX1B gene
481
Criteria for HLH diagnosis
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
Diagnosis associated with reverse differential cyanosis (post ductal higher than preductal)
Dextro transposition of the great arteries with either pulmonary HTN or coartaction of the aorta
483
Glycogen storage disease type associated with "second wind phenomenon " rest after exercise induced myalgia improves exercise tolerance
Glycogen storage disease type V (McArdle disease)
484
Leading cause of congenital hemiplegia
Ischemic perinatal stroke
Test for protein C
485
Anemia and peripheral eosinophilia after being barefoot in endemic area
Hookworm (Necator americanus)
Treat with albendazole, mebendazole or pyrantel pamoate
486
Baby with heart failure and prominent Q waves on inferior leads on ECG
ALCAPA
Anomalous coronary artery from the pulmonary artery
487
Source of hormones in male precocious puberty with very high DHEA-S
Adrenal gland
