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Newborn Screening Test - RA?

RA 9288

1

Normal weight at birth

3kg

2

Normal length at birth

50cm

3

Diseases screened in Newborn Screening test

CH, CAH, PKU, G6PD, Galactosemia, MSUD

4

Deficiency in classic Galactosemia

Galactose-1-phosphate uridyltransferase (G1P-UDT)

5

Deficient in non-classical Galactosemia

Galactokinase

6

What to order in G6PD to visualize cells?

Peripheral blood smear

7

Deficient in PKU

Phenylalanine hydroxylase (PAH)

8

Mongolian spots usually where?

Sacral area

9

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

Mongolian spots - normal

10

What diagnostic test should you request for patients with hyperpituitarism?

Serum somatomedin C (IGF-I)

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

11

Tx for precocious puberty

Leuporide acetate

12

Definition of precocious puberty

< 8 in girls
< 9 in boys

13

Tx for thyroid storm

Methimazole

14

MCC of congenital hypothyroidism

Thyroid dysgenesis

15

Earliest possible sign of congenital hypothyroidism

Prolonged physiologic jaundice

16

MCC of thyroid disease in children and adolescents

Thyroiditis

17

Antibodies seen in serum of patients with thyroiditis

Thyroid antiperoxidase antibodies (TPO)
- seen in 90% of children - stimulate natural killer cell cytotoxicity

18

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

Premature infants
Infants with asphyxia at birth
Infants of diabetic mothers

19

X-ray finding in bones of patients with hypoparathyroidism

Increased density limited to the metaphyses

20

Emergency treatment for neonatal tetany

Calcium gluconate IV

21

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

Increased serum calcium
Decreased serum phosphorus
Decreased serum magnesium

22

X-ray finding in patients with hyperparathyroidism

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

23

MC skeletal abnormality in patients with Turner Syndrome

Shortening of the 4th metatarsal and metacarpal bones

24

Cardinal finding in all girls with Turner Syndrome

Short stature