Neonatology Flashcards

0
Q

Normal weight at birth

A

3kg

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1
Q

Newborn Screening Test - RA?

A

RA 9288

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2
Q

Normal length at birth

A

50cm

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3
Q

Diseases screened in Newborn Screening test

A

CH, CAH, PKU, G6PD, Galactosemia, MSUD

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4
Q

Deficiency in classic Galactosemia

A

Galactose-1-phosphate uridyltransferase (G1P-UDT)

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5
Q

Deficient in non-classical Galactosemia

A

Galactokinase

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6
Q

What to order in G6PD to visualize cells?

A

Peripheral blood smear

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7
Q

Deficient in PKU

A

Phenylalanine hydroxylase (PAH)

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8
Q

Mongolian spots usually where?

A

Sacral area

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9
Q

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

A

Mongolian spots - normal

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10
Q

What diagnostic test should you request for patients with hyperpituitarism?

A

Serum somatomedin C (IGF-I)

  • more precise and cost-effective than serum GH because serum GH levels fluctuate and have short serum half life
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11
Q

Tx for precocious puberty

A

Leuporide acetate

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12
Q

Definition of precocious puberty

A

< 8 in girls

< 9 in boys

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13
Q

Tx for thyroid storm

A

Methimazole

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14
Q

MCC of congenital hypothyroidism

A

Thyroid dysgenesis

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15
Q

Earliest possible sign of congenital hypothyroidism

A

Prolonged physiologic jaundice

16
Q

MCC of thyroid disease in children and adolescents

A

Thyroiditis

17
Q

Antibodies seen in serum of patients with thyroiditis

A

Thyroid antiperoxidase antibodies (TPO)

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

18
Q

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

A

Premature infants
Infants with asphyxia at birth
Infants of diabetic mothers

19
Q

X-ray finding in bones of patients with hypoparathyroidism

A

Increased density limited to the metaphyses

20
Q

Emergency treatment for neonatal tetany

A

Calcium gluconate IV

21
Q

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

A

Increased serum calcium
Decreased serum phosphorus
Decreased serum magnesium

22
Q

X-ray finding in patients with hyperparathyroidism

A

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

23
Q

MC skeletal abnormality in patients with Turner Syndrome

A

Shortening of the 4th metatarsal and metacarpal bones

24
Q

Cardinal finding in all girls with Turner Syndrome

A

Short stature