Neonatology

Question 0

Normal weight at birth

Answer 0

3kg

Question 1

Newborn Screening Test - RA?

Answer 1

RA 9288

Question 2

Normal length at birth

Answer 2

50cm

Question 3

Diseases screened in Newborn Screening test

Answer 3

CH, CAH, PKU, G6PD, Galactosemia, MSUD

Question 4

Deficiency in classic Galactosemia

Answer 4

Galactose-1-phosphate uridyltransferase (G1P-UDT)

Question 5

Deficient in non-classical Galactosemia

Answer 5

Galactokinase

Question 6

What to order in G6PD to visualize cells?

Answer 6

Peripheral blood smear

Question 7

Deficient in PKU

Answer 7

Phenylalanine hydroxylase (PAH)

Question 8

Mongolian spots usually where?

Answer 8

Sacral area

Question 9

Flat, blue-gray with well defined margins in the sacral area of a newborn

Answer 9

Mongolian spots - normal

Question 10

What diagnostic test should you request for patients with hyperpituitarism?

Answer 10

Serum somatomedin C (IGF-I)

• more precise and cost-effective than serum GH because serum GH levels fluctuate and have short serum half life

Question 11

Tx for precocious puberty

Answer 11

Leuporide acetate

Question 12

Definition of precocious puberty

Answer 12

< 8 in girls

< 9 in boys

Question 13

Tx for thyroid storm

Answer 13

Methimazole

Question 14

MCC of congenital hypothyroidism

Answer 14

Thyroid dysgenesis

Question 15

Earliest possible sign of congenital hypothyroidism

Answer 15

Prolonged physiologic jaundice

Question 16

MCC of thyroid disease in children and adolescents

Answer 16

Thyroiditis

Question 17

Antibodies seen in serum of patients with thyroiditis

Answer 17

Thyroid antiperoxidase antibodies (TPO)

- seen in 90% of children - stimulate natural killer cell cytotoxicity

Question 18

Hypocalcemia is common from 12-72 hours of life in which patients

Answer 18

Premature infants
Infants with asphyxia at birth
Infants of diabetic mothers

Question 19

X-ray finding in bones of patients with hypoparathyroidism

Answer 19

Increased density limited to the metaphyses

Question 20

Emergency treatment for neonatal tetany

Answer 20

Calcium gluconate IV

Question 21

Serum levels of calcium and phosphate in patients with hyperparathyroidism (increased or decreased)

Answer 21

Increased serum calcium
Decreased serum phosphorus
Decreased serum magnesium

Question 22

X-ray finding in patients with hyperparathyroidism

Answer 22

Resorption of subperiosteal bone - best seen along the margins of the phalanges of the hands

Question 23

MC skeletal abnormality in patients with Turner Syndrome

Answer 23

Shortening of the 4th metatarsal and metacarpal bones

Question 24

Cardinal finding in all girls with Turner Syndrome

Answer 24

Short stature