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pediatrics > Facts and Mnemonics > Flashcards

Facts and Mnemonics Flashcards

1
Q

What are the 3 trisomies?

A

21 -> Age to DRINK (DOWN syndrome)
18 -> Age to vote for ELECTION (EDWARDs syndrome)
13 -> Age of PUBERTY (PATAU syndrome)

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2
Q

What is the inheritance for Cystic Fibrosis?

A

Autosomal Recessive

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3
Q

What is the pathophysiology of Cystic Fibrosis?

A

Mutation in cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7

Characterized by widespread exocrine gland dysfunction

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4
Q

What is the pathophysiology of Down Syndrome?

A

Trisomy 21

Caused by:
1. Meiotic Non-disjunction (95%)
2. Robertsonian translocation (4%)

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5
Q

What is the pathophysiology of Edwards Syndrome?

A

Trisomy 18

Caused by Meiotic Non-disjunction

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6
Q

What is the pathophysiology of Patau syndrome?

A

Trisomy 13

Caused by Meiotic Non-disjunction

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7
Q

What is the etiology of phenylketonuria (PKU)?

A
  • 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)

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8
Q

What is the pathophysiology of Fragile X Syndrome?

A

Caused by a defect affecting the methylation and expression of the FMR1 gene

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9
Q

State the mode of inheritance of Fragile X Syndrome

A

X-linked dominant

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10
Q

What is the pathophysiology of Friedrich ataxia?

A

Caused by a loss of function mutation in FRATAXIN gene -> TRINUCLEOTIDE repeat expansion of GAA -> Decrease expression of FRATAXIN protein

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11
Q

What is the diagnostic criteria of cystic fibrosis?

A
  1. > 1 phenotypic feature(s) of cystic fibrosis
    - Chronic Pulmonary Disease
    - Chronic Sinusitis
  2. History of CF in siblings
  3. 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

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12
Q

Interpret the following APGAR score
1. Score 8 to 10
2. Score 4 to 7
3. Score 0 to 3

A
  1. Score 8 to 10 -> Good cardiopulmonary adaptation
  2. Score 4 to 7 -> Possible need for resuscitation
  3. Score 0 to 3 -> Need for immediate resuscitation
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13
Q

Define Kernicterus

A

Kernicterus is a complication of unconjugated hyperbilirubinemia that results from irreversible bilirubin deposition in the
1. Basal Ganglia
2. Pons
3. Cerebellum

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14
Q

What are the 5 components of APGAR score

A

A -> Activity
P -> Pulse
G -> Grimace (Reflex irritability)
A -> Appearance (Skin color)
R -> Respiration

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15
Q

State the diagnostic workup for indirect hyperbilirubinemia

A
  1. Complete blood count
  2. Peripheral blood smear
  3. Blood typing of mother and infant
  4. Coombs test
  5. Bilirubin levels
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16
Q

State the diagnostic workup for direct hyperbilirubinemia

A
  1. Liver Function Test
  2. Bile acids
  3. Assess liver anatomy and biliary tract US and/or HIDA scan -> Can confirm suspected cholestatic disease
  4. Full sepsis workup
17
Q

What is the treatment for unconjugated hyperbilirubinemia?

A
  1. Phototherapy
  2. Exchange transfusion (For severe elevation >20mg/dL)

Phototherapy is not indicated for conjugated hyperbilirubinemia

18
Q

Define apnea of prematurity

A

Intermittent cessation of respiration for > 20seconds in premature infants (gestational age <37 weeks) due to IMMATURITY OF CENTRAL RESPIRATORY CENTER

19
Q

Why congenital hypothyroidism is asymptomatic at birth?

A

Transplacental transfer of maternal thyroxine

20
Q

How to confirm the diagnosis of congenital hypothyroidism?

A

Increase TSH levels

21
Q

State the treatment and complication for congenital hypothyroidism

A

Treatment:
- LEVOTHYROXINE
- Avoid co-administration with soy, calcium, and iron (Decrease absorption)

Complication:
- Decreased neurocognitive function

22
Q

State the clinical features of congenital hypothyroidism
Mnemonic: 6P

A
  1. Potbellied
  2. Pale
  3. Puffy face
  4. Protruding umbilicus
  5. Protruding tongue
  6. Poor brain development
23
Q

State the non-cyanotic heart shunt
LEFT to RIGHT shunt
Mnemonic: 3D

A
  1. VSD
  2. ASD
  3. PDA
24
Q

State the cyanotic heart shunt
RIGHT to LEFT shunt
Mnemonic: 5T

A
  1. Truncus arteriosus
  2. Transposition
  3. Tricuspid atresia
  4. TOF
  5. Total anomalous pulmonary venous return (TAPVR)
25
Q

Full term for VACTERL-H

A

VACTREL-H

Vertebral anomalies
Anal Atresia
Cardiac anomalies
Tracheal-esophageal fistula
Esophageal atresia
Renal structural anomalies
Limb anomalies
Hydrocephalus

26
Q

What are the auscultation findings for ASD?

A
  • Wide and fixed split S2
  • Systolic ejection murmur at the upper left sternal border (Due to increase pulmonary blood flow)
  • Mid-diastole ruble at the left sternal border?
27
Q

What are the auscultation findings for VSD?

A
  • Harsh holosystolic murmur at lower left sternal border
  • Narrow S2 with Increase P2 (Large defect)
  • Mid-diastolic apical rumble
28
Q

What is PDA associated with?

A
  1. Prematurity
  2. Congenital Rubella Syndrome
29
Q

What is the management for PDA?

A
  • Initially, INDOMETHACIN
  • If indomethacin fails or if infant is >2 weeks of age, surgical closure is typically required
30
Q

What is the management of Coarctation of Aorta?

A
  • If severe coarctation in infancy, prostaglandin E1 to maintain ductus arteriosus patency (prior to surgical repair)
  • Surgery:
    1. Infants or Toddlers -> Surgical repair
    2. Older children -> Balloon Angioplasty
31
Q

What are the 2 risk factors for transposition of great arteries?

A
  1. Mothers with pre-existing DM
  2. DiGeorge syndrome
32
Q

What is the classic X-ray findings of transposition of great arteries?

A

“Egg on a String” appearance

33
Q

What are the 2 risk factors of TOF?

A
  1. Trisomy 21
  2. DiGeorge syndrome
34
Q

What are the characteristic features of DiGeorge Syndrome?
Mnemonic: CATCH 22

A

Cardiac Abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 deletion

35
Q

State the diagnostic criteria for Kawasaki Disease

A

Fever lasting for at least 5 days

At least 4 out of 5 of the following:
- Bilateral non-purulent conjunctivitis
- Mucosal changes of oropharynx (red lips, dry fissured lips, Strawberry tongue)
- Changes in extremities (Desquamation)
- Rash (Usually truncal)
- Cervical lymphadenopathy

36
Q

List the investigations done for Kawasaki disease

A
  1. Full blood count -> Anemia, Thrombocytosis
  2. ESR. CRP
  3. Serum albumin <3g/dL
  4. Urine >10 wbc/hpf
  5. Echocardiogram in the acute phase
37
Q

List the treatment for Kawasaki disease
1. Primary treatment
2. Maintenance

A

Primary treatment
- IV Immunoglobulin 2gm/kg infusion over 10 - 12 hours
- Oral aspirin 30-50mg/kg/day in 3 divided doses till day 14

Maintenance:
- Oral aspirin 3-5mg/kg daily for 6-8 weeks
- If coronary aneurysm present, then continue aspirin until resolves

38
Q
A

pediatrics (4 decks)

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