adverse events in the neonatal period

Question 1

neonate

Answer 1

before 28 days

Question 2

biggest cause of early neonatal death

Answer 2

immaturity

Question 3

what converts testosterone to di-hydrotestosterone

Answer 3

5-alpha - reductase

Question 4

A newborn has undifferentiated external genitalia at birth. Further investigation shows a karyotype of 46, XX, and low sodium and high potassium. Plasma 17-A-hydroxyprogesterone is raised. Given the most likely diagnosis, what is the most likely enzyme deficiency?

Answer 4

congential adrenal hyperplasia
21–hydroxylase

Question 5

signs of COH

Answer 5

Ambiguous genitalia
Hypotension
Salt-wasting crises and dehydration
Vomiting
Virilisation
Precocious puberty (males)

Question 6

tx of CAH

Answer 6

Immediate treatment includes replacing fluid and sodium with intravenous saline (if salt-wasting), and giving hydrocortisone which exerts both a glucocorticoid and mineralocorticoid effect.
Lifelong treatment with replacement of the deficient hormones is usually necessary: hydrocortisone and fludrocortisone as appropriate

Question 7

uncojugated bilirubin in neonate can cross blood brain barrier going to basal ganglia causing what

Answer 7

kernicterus

Question 8

how many times should you take urine samples for proteinuria

Answer 8

least two separate urine samples should be sent for protein:creatinine ratios with one sample being an early morning sample.

Question 9

first thing to do for baby who hasnt cried neonate

Answer 9

open the airway

Question 10

baby seizures( hypoxia) what do you give

Answer 10

phenobarbitone

Question 11

Phenylketonuria (PKU) is a condition caused by an autosomal recessive mutation in the phenylalanine hydroxylase enzyme. Deficiency of this enzyme causes levels of phenylalanine to build up to toxic levels in the blood, which causes irreversible damage to the nervous system.

whta do you see

Answer 11

Seizures
Poor growth
Hypopigmentation resulting in fair skin and hair
Musty body odour

PKU is screened for on the blood spot test within the first week of life. This allows early detection and intervention.
low protein diet

Question 12

asphyxia

Answer 12

combo of hypoxia and ischaemia and HIE is therefore the neurological syndrome associated with an asphyxiated neonate

Question 13

spiral fractures

Answer 13

abuse twisting motion

Question 14

haemolytic anaemia is preceeded by ecoli infection the toxin

Answer 14

true

Question 15

seziures can cause transient proteinuria

Answer 15

true

Question 16

late onset group b strep

Answer 16

3 week post birth

Question 17

signs of problem in baby

Answer 17

floppy and poor feeding
resp distress
cyanotic
temp instability
unstable blood suagrs
irritble
vomit and ado pain, bile aspiraties , jaundice , shock and hypotension

Question 18

causes of prolonged jaundice

Answer 18

breast milk jaundice
infection
congential hypothyroidism

Question 19

treatment for HIE

Answer 19

cooling the body

Question 20

investigation of choice for seizures

Answer 20

MRI