Week 2/4

Question 1

Treatment of alopecia
What nail findings can help confirm diagnosis

Answer 1

Intralesional corticosteroids
Pitting of the nails

Question 2

Calculation for mid-parental height

Answer 2

Female
[(Father’s height – 5 in) + (Mother’s height)]/2, or [(Father’s height – 13 cm) + (Mother’s height)]/2

for a boy add 5in or 13cm to mom’s height

Question 3

What Echo findings associated with
Grade 2/6 systolic ejection murmur, best heard at the left upper sternal border, with a normal S1 and widely split S2 that does not vary with respiration.

Answer 3

ASD

Question 4

What ECHO findings associated with
harsh 4/6 systolic ejection murmur with thrill, best heard at the left upper sternal border, with a normal S1, a systolic ejection click, and a split S2 that varies with respiration

Answer 4

Pulmonary valve stenosis

Question 5

What ECHO finds with

A continuous murmur throughout systole and diastole associated with bounding peripheral pulses

Answer 5

PDA

Question 6

What ECHO findings associated with
harsh systolic murmur increases with standing and decreases with squatting

Answer 6

Hypertrophic cardiomyopathy

Question 7

Where are in cranial calcifications in CMV vs Toxo

Answer 7

CMV- linear periventricular distribution (CircuMVent ventricles)
Toxo- occur more inside parenchyma- caudate nucleus and basal ganglion

Question 8

Rules with spacing live vaccines such as MMR and varicella

Answer 8

Give either at the same time or separate out by 4 weeks

Question 9

What can cause sudden death in RETT syndrome

Answer 9

Cardiac arrythmia
Prolong QTc

Question 10

What disease is a leptomeningeal angioma in the brain seen it?

Answer 10

Sturge-Weber syndrome- will have port wine stain on face

Question 11

Hyper IgE- Job syndrome Effects what part of the immune system

Answer 11

Neutrophils not working- get staph abscesses, bad eczema

Question 12

CHARGE syndrome

Answer 12

CHARGE syndrome, a nonrandom set of features characterized by coloboma of the retina, heart abnormalities (especially of the aortic arch), atresia of the choanae, restricted growth and mental disabilities, genital hypoplasia in males, and ear anomalies

Question 13

Wiskott–Aldrich syndrome

Answer 13

X-linked recessive disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea

Question 14

Hyper-IgE syndrome

Answer 14

primary immunodeficiency disease characterized by eczema, recurrent staphylococcal skin abscesses, recurrent lung infections, eosinophilia, and high serum levels of IgE.

Question 15

X-linked agammaglobulinemia

Answer 15

(XLA; a.k.a. Bruton agammaglobulinemia) presents with recurrent bacterial infections often due to encapsulated pyogenic bacteria. IgG, IgM and IgA are often undetectable.

Question 16

Sturge-Weber syndrome.

Answer 16

Sturge-Weber syndrome is the association of a facial port-wine stain in the V1 distribution with central nervous system leptomeningeal angiomatosis, which may cause seizures and/or glaucoma.

Question 17

Turner syndrome heart abnormalities

Answer 17

increased incidence of left heart disease such as bicuspid aortic valve, aortic coarctation, hypoplastic left heart syndrome, and anomalies in pulmonary venous return.

Question 18

Menkes disease

Answer 18

(a.k.a. Menkes kinky hair disease) is an X-linked recessive dysfunction of copper metabolism with impaired absorption and transport. It is characterized by marked intellectual disabilities and collagen abnormalities resulting in skeletal and vascular pathology and abnormal hair. Copper levels are suppressed.

Question 19

Infant with high ammonia but normal pH

Answer 19

defect in the urea cycle.

Although organic acidemias, such as methylmalonic acidemia and propionic acidemia, may have hyperammonemia as well, metabolic acidosis will also be present, and ammonia levels are not as high.

Question 20

Rules with PCV and PPSV23

Answer 20

children should receive PCV13 at 2, 4, 6, and 12–15 months of age. Children at high risk of invasive pneumococcal disease should also receive a dose of PPSV23 at 2 years of age ( ≥ 8 weeks after the final [4th] dose of PCV13).

Question 20

Alport syndrome

Answer 20

Most often X- linked- genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria)