Items To Review Flashcards
Pompes Disease
GSD2,
PKU (and a similar disorder)
Deficiency of PAH (converts phenylalanine to tyrosine), P toxic to brain, T needed for melanin = fair eyes/hair
Similar disorder - tetrahydrobiopterin (PAH cofactor)
Abnormal odor and IEM:
Maple syrup
Boiled cabbage
Fish
Sweaty foot
MSUD
Tyrosinemia
3 methylcrotonylglycinuria
Glutaric aciduria 2
Galactosemia
Galactose 1 phosphate uridyltransferase def (GALT)
Poor feeding lethargy jaundice cataracts E. coli sepsis
Tx: dietary restriction (no lactose). Even with tx can have mental retardation.
Girls have premature ovarian failure.
MCAD def
Most common d/o fatty acid oxidation.
Usually asymptomatic as neonate. Can have vomiting, HM, lethargy, coma, seizures with fasting or an illness.
Increased C6-10 acylcarnitines.
Ectopic atrial contraction
180-240 bpm
Speeds up and slows down
Atrial contraction before vent ctx
HLHS management
Norwood palliation. Atrial septectomy and convert RV into the main ventricle for pulm and systemic flow. MPA and Ao are connected, MPA disconnected from PAs. Shunt placed from PA to lungs.
Then Glenn then fontan.
Tx for SVT
Tx for AV reentry tachycardia
SVT - digoxin
AVRT - amiodarone
Hydrocortisone mechanism
Inhibit NO synthase
Upregulate adrenergic receptors
Upregulate angiotensin II receptors
Inhibit catecholamine metabolism.
Increase intracellular Ca.
Milrinone mechanism
Phosphodiesterase 3 inhibitor. Decreases breakdown of cAMP = increases Ca influx to cells.
Inotropic, inodilator, lusitrope.
Norepi mechanism
Activates alpha1,2 and beta1 receptors to increase SVR and CO. Greater systemic constriction than pulmonary
Ebstein anomaly associated with which EKG abnormality
RBBB. Also WPW
DM CHD
VSD
DORV
TA
HCM in IDM
Histologically different than congenital HCM. Caused by insulin and hyperglycemia. Supportive care, can be reversible, treatment includes beta blockers to improve ventricular output.
Most common cause hypertrophic cardiomyopathy and Tx
Noonans
Beta blocker
How to assess atrial communication in fetal echo for HLHS
Flow reversal thru pulmonary vein in atrial systole
Dobutamine mechanism
Acts on alph. and beta without releasing norepi. Increased myocardial contractility and vasodilation of peripheral vasculature
CCHDs
HLHS, PA intact septum, ToF, TAPVR, TGA, TA, TA
PHACES
Posterior fossa anomalies
Hemangioma
Arterial anomalies
Cardiac
Eye anomalies
LEOPARD syndrome
Lentigines
It is Noonans with lentigines
Graves
> 90% babies born to graves moms habe subclinical thyrotoxicosis. fT4 peak at 5 days. 1-5% are diagnosed.
PTU drug of choice. Methimazole is teratogenic
Smith lemli optiz
7a dehydrocholesterol reductase deficiency.
Impaired choles synth. Cardiac, cleft palates, syn poly dactyly , amb gebitalia
Goldenhar syndrome
Ear abnormalities, eyelid notching abnormalities (eyelid coloboma), spinal deformity like scoliosis
Failed hearing screen sensorineural deficit
Hearing aid trail if no improvement by 1 year then cochlear implant may be good, better to get by 12 mo
Follow up schedule for ROP if treated with becavizumab
45-55 weeks PMA and up to 65 weeks
3 types of lymphatic malformations
Macrocystic - cystic hygroma usually head and neck
Micro cystic - can look like vesicle clusters that leak lymphatic fluid
Mixed
When to fu ROP in 1 week
If zone 1 any stage or any stage 3
Brachial plexus injuries
- what innervates upper middle and lower roots
- what root gives Horner syndrome
- what are the clinical palsies
- 4 palsy groups
- C5-6, C7, C8-T1
- lower root
- Erb (upper c5-7, waiters tip, intact grasp). Klumpke (grasp absent, rare), and total
- 1- c5-6, 90% recovery rate, 2- 65%
Covid isolation
Vertical - test 24-72 h and remove from isolation if negative
Horizontal - test at 0 and then 5-7 days and isolate 10 days regardless
Need droplet for low flow and airborne for high flow
