Facts and Mnemonics Flashcards
What are the 3 trisomies?
21 -> Age to DRINK (DOWN syndrome)
18 -> Age to vote for ELECTION (EDWARDs syndrome)
13 -> Age of PUBERTY (PATAU syndrome)
What is the inheritance for Cystic Fibrosis?
Autosomal Recessive
What is the pathophysiology of Cystic Fibrosis?
Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7
Characterized by widespread exocrine gland dysfunction
What is the pathophysiology of Down Syndrome?
Trisomy 21
Caused by:
1. Meiotic Non-disjunction (95%)
2. Robertsonian translocation (4%)
What is the pathophysiology of Edwards Syndrome?
Trisomy 18
Caused by Meiotic Non-disjunction
What is the pathophysiology of Patau syndrome?
Trisomy 13
Caused by Meiotic Non-disjunction
What is the etiology of phenylketonuria (PKU)?
- Decrease in phenylalanine hydroxylase
- Decrease in tetrahydrobiopterin cofactor
Hence, during infancy
Patient will need special infant formula containing decrease phenylalanine (artificial sweeteners) and increase tyrosine (should not breastfed)
What is the pathophysiology of Fragile X Syndrome?
Caused by a defect affecting the methylation and expression of the FMR1 gene
State the mode of inheritance of Fragile X Syndrome
X-linked dominant
What is the pathophysiology of Friedrich ataxia?
Caused by a loss of function mutation in FRATAXIN gene -> TRINUCLEOTIDE repeat expansion of GAA -> Decrease expression of FRATAXIN protein
What is the diagnostic criteria of cystic fibrosis?
- > 1 phenotypic feature(s) of cystic fibrosis
- Chronic Pulmonary Disease
- Chronic Sinusitis - History of CF in siblings
- Positive newborn screening test
PLUS at least 1 of the following:
- Increase sweat chloride concentration
- 2 CFTR gene mutation
- Abnormal nasal potential difference (NPD) test
Interpret the following APGAR score
1. Score 8 to 10
2. Score 4 to 7
3. Score 0 to 3
- Score 8 to 10 -> Good cardiopulmonary adaptation
- Score 4 to 7 -> Possible need for resuscitation
- Score 0 to 3 -> Need for immediate resuscitation
Define Kernicterus
Kernicterus is a complication of unconjugated hyperbilirubinemia that results from irreversible bilirubin deposition in the
1. Basal Ganglia
2. Pons
3. Cerebellum
What are the 5 components of APGAR score
A -> Activity
P -> Pulse
G -> Grimace (Reflex irritability)
A -> Appearance (Skin color)
R -> Respiration
State the diagnostic workup for indirect hyperbilirubinemia
- Complete blood count
- Peripheral blood smear
- Blood typing of mother and infant
- Coombs test
- Bilirubin levels
State the diagnostic workup for direct hyperbilirubinemia
- Liver Function Test
- Bile acids
- Assess liver anatomy and biliary tract US and/or HIDA scan -> Can confirm suspected cholestatic disease
- Full sepsis workup
What is the treatment for unconjugated hyperbilirubinemia?
- Phototherapy
- Exchange transfusion (For severe elevation >20mg/dL)
Phototherapy is not indicated for conjugated hyperbilirubinemia
Define apnea of prematurity
Intermittent cessation of respiration for > 20seconds in premature infants (gestational age <37 weeks) due to IMMATURITY OF CENTRAL RESPIRATORY CENTER
Why congenital hypothyroidism is asymptomatic at birth?
Transplacental transfer of maternal thyroxine
How to confirm the diagnosis of congenital hypothyroidism?
Increase TSH levels
State the treatment and complication for congenital hypothyroidism
Treatment:
- LEVOTHYROXINE
- Avoid co-administration with soy, calcium, and iron (Decrease absorption)
Complication:
- Decreased neurocognitive function
State the clinical features of congenital hypothyroidism
Mnemonic: 6P
- Potbellied
- Pale
- Puffy face
- Protruding umbilicus
- Protruding tongue
- Poor brain development
State the non-cyanotic heart shunt
LEFT to RIGHT shunt
Mnemonic: 3D
- VSD
- ASD
- PDA
State the cyanotic heart shunt
RIGHT to LEFT shunt
Mnemonic: 5T
- Truncus arteriosus
- Transposition
- Tricuspid atresia
- TOF
- Total anomalous pulmonary venous return (TAPVR)
