Hematology
Most common presenting symptom in sickle cell anemia
Dactylitis
The congenital syndrome with:
Cataracts
Microcephaly
Continuous heart murmur
What is congenital rubella
The major criteria for Kawasaki disease
Must have fever >5 days
Strawberry tongue/mucous membrane changes
Rash
Extremity changes - desquamation of fingers/toes
Cervical lymphadenopathy
Conjunctivitis
(need 4/5)
Most common enzyme defect in congenital adrenal hyperplasia
21-hydroxylase deficiency
Leads to inadequate mineralocorticoids (salt wasting and dehydration) as well as excess androgens (ambiguous genitalia in females)
2nd most common is 11B hydroxylase, molecule that accumulates, DOC has some mineralocorticoid activity, so hypertension present instead with excess androgens
Normal age range for intussusception
6 months to 3 years
(60% younger than 1 year, 80-90% younger than 2 years)
Time of RBC nadir in healthy term infants
What are pseudomonas and staph aureus
Name the antibodies in congenital lupus
Anti Ro and Anti La (SSA and SSB)
Boys with Klinefelter syndrome are at increased risk of this cancer
What is breast cancer?
Name the 3 D's of niacin deficiency
Dermatitis
Dementia
Diarrhea
Type of anemia in Diamond-Blackfan anemia
What is macrocytic anemia
Name the major manifestations in rheumatic fever
What are:
Joints (polyarthritis)
O (carditis)
Nodules (subcutaneous nodules)
Erythema marginatum
Syndenham chorea
The minor manifestations are fever, elevated acute phase reactants (ESR, C-reactive protein), past history of RF, prolonged PR on electrocardiogram, and arthralgia.
Remember you need 2 major, or 1 major and 2 minor for dx
A 10 year old girl presents with:
DIP arthritis
Dactylitis
Nail pitting
This is her diagnosis
What is psoriatic arthritis?
Drug most common implicated in nephrogenic diabetes insipidus
What is lithium?
Patient presents with:
Painless rectal bleeding
Black-brown macules on the lips and buccal membranes
Peutz Jäger syndrome
AD mutation: causes formation of polyps in the small and large intestine, increased risk for adenocarcinoma
What is factor 13 deficiency?
Most common tick carrying Lyme disease (borrelia)
An 18 year old male presents with
Saddle nose deformity
Lung nodules
Elevated creatinine
This is his diagnosis
What is granulomatosis with polyangiitis or GPA (formerly Wegener's)
Remember c-ANCA positive!
Frequency of screening for Wilms tumor in Beckwith Wiedemann syndrome
What is every 3 months for first 8 years of life?
Deficiency associated with "spooning" of the fingernails
What is iron deficiency
Lifespan of a platelet
What is 7-10 days?
Mechanism of action of micafungin
What is inhibits synthesis of 1, 3 B-D glucan (component of fungal cell wall)
A 3 year old boy presents with:
Fever of 5 days duration
Aphthous ulcers in mouth
Sore throat
Cervical lymphadenitis
This is his diagnosis
What is PFAPA?
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis
Benign syndrome occurring in children 6 months-7 years of age
Low electrolytes in refeeding syndrome
What are hypokalemia, hypomagnesemia, hypophosphatemia?
Medication in pregnancy associated with small left colon syndrome
What is insulin