·
IMP DZ WITH HYPERTONIA:
Edward’s, 21q-, Krabbe’s, Kernicterus(Acute), Menke Kinky
Hair Syndrome, SSPE,
·
Clinical pointers towards specific IEM’s
·
Coarse facies: Lysosomal disorders
·
Cataract: Galactosemia, Zellweger syndrome
·
Retinitis pigmentosa: Mitochondrial
disorders
·
Cherry red spot: Lipidosis
·
Hepatomegaly: Storage disorders, urea cycle
defects
·
Renal enlargement: Zellweger syndrome
·
Eczema/alopecia: Biotinidase deficiency
·
Abnormal kinky hair: Menke disease
·
Decreased pigmentation: Phenylketonuria
·
Hiccups: Nonketotic hyperglycinemia
·
Ophthalmoplegias: MSUD, Nonketotic
hyperglycinemia
·
Apnea monitors based on chest wall movement are likely to miss obstructive
apnea. Monitors with facilities for measuring heart rate and oxygen saturation
would be more useful in the monitoring of significant apnea in preterm infants.
·
Methylxanthines have been the mainstay of pharmacologic
treatment of AOP. The loading dose of
intravenous aminophylline is 5 to 6 mg/kg, followed by 1.5 to 3 mg/kg every 8
to 12 hours. Caffeine available for both oral and intravenous use has some
advantages over theophylline. Because it has a higher therapeutic index, toxicity
is less of a concern. Also, once-daily dosing is possible due to its longer
halflife. A typical loading dose of 20 mg/kg caffeine citrate is followed in 24
hours by 5 to 8 mg/kg per dose, administered once every 24 hours. Recommended
therapeutic levels are 5 to 10 μg/ml for minophylline and 8 to 20 μg/ml for
caffeine.
Caffeine: The drug is
not available in India at present.
The drug of choice would be
caffeine, which is not available in India. Hence we prefer to use aminophylline
as the drug of choice in the management of AOP.
·
Injection doxapram
has 0.9% benzyl alcohol as a preservative. The recommended dose of 2-2.5
mg/kg/hr would deliver 21.6-32.4 mg/kg/day of benzyl alcohol. Although this
dose is below the toxic dose of alcohol (45 mg/kg/day), there have been case
reports of “gasping syndrome” with
this lower dose in literature.
·
Similarly,
extubation to CPAP following early surfactant administration (‘INtubateSURfactantExtubate’ = INSURE Approach) has been shown to reduce the
need for mechanical ventilation but it is still uncertain if BPD is reduced by
this approach.
·
Preterm
infants are susceptible to oxidant injury because they are deficient in
antioxidant enzymes. Hence, antioxidants such as superoxide dismuatase (SOD)
promise to be an exciting strategy for prevention of BPD. A randomized trial
that enrolled around 300 infants proved the safe nature of the drug CuZnSOD, but did not find any difference in the
primary outcome of BPD at 36 weeks PMA. Interestingly, SOD treated infants had
fewer episodes of respiratory illness at I year of age suggesting that the drug
could prevent long-term lung injury caused by reactive oxygen species.43 Further studies are needed to define its exact
role in the management of BPD. Other antioxidants/free radical scavengers like vitamins C and E, allopurinol, N-acetyl-Cysteine
have not been proved to be useful till now.
·
·
Spitzer's laws of
neonatology
1.
The more
stable a baby appears to be, the more likely he will "crump" that
day.
2.
The nicer the
parents, the sicker the baby.
3.
The
likelihood of bronchopulmonary dysplasia (BPD) is directly proportional to the
number of physicians involved in the care of that baby.
4.
The longer a
patient is discussed during rounds, the more certain it is that no one has the
faintest idea of what is going on or what to do.
5.
The sickest
infant in the nursery can always be discerned by the fact that he or she is
being cared for by the newest, most inexperienced nursing orienteer.
6.
The surest
way to have an infant linger interminably is to inform the parents that death
is imminent.
7.
The more
miraculous the "save," the more likely that you will be sued for
something totally inconsequential.
8.
If they are
not breathin', they may be seizin'.
9.
Antibiotics
should always be continued for ____ days. (Fill in the blank with any number
1-21.)
10.
If you cannot
figure out what is going on with a baby, call the surgeons. They won't figure
it out either, but they will sure as hell do something about it.
·
Yale Observation
Scales
This set of six
items of observation and physical signs was designed at Yale to assist in
detecting serious illness in febrile children who were <24 months old.
Normal (1 point), moderate impairment (3 points), and severe impairment (5
points) scores are given for quality of cry, reaction to parental stimulation,
state of alertness, color, hydration, and response to social overtures. Scores
of =10 correlate with a low likelihood of serious illness, primarily in infants
>2 months old
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