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Pediatrics > Newborn Screening > Flashcards

Newborn Screening Flashcards

1
Q

What is the role of national newborn screening program

A
  • For inborn error of metabolism

- endocrine disorder

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2
Q

How to decide which disease to be screened

A
  • important health problem
  • available test
  • available diagnostic\treatment
  • benifits > risk
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3
Q

,what are the new diseases included in newborn screening program

A
  • hearing test

- cyanotic heart disease

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4
Q

How is the screening done for newborn

A
  • Guthrie card by heel prick
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5
Q

What is the duration of guthrie card heel prick

A

24-72 hours

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6
Q

What is the test used in the guthrie card?

A

Tandom mass spectoscopy

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7
Q

What causes increased incidence of inborn error of metabolism (1:1043)

A

Consequity and first cousin marrige

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8
Q

What is the most prevalent disabling condition worldwide?

A

Hearing impairment

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9
Q

What are the risk factors for hearing loss at birth

A
  • family hx
  • infections and meningitis
  • ototoxic medics
  • LBW <1500
  • craniofacial abn and syndrome
  • hyperbilli requiring exchange transfusion
  • asphyxia And mechanical venilation
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10
Q

How to preform the newborn hearing screen?

A

Transient otoacoustic emission

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11
Q

How to preform the CCHD screen

A

Pulse oximetery

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12
Q

What is maple syrup urine disease?

A

The body can’t break down branched amino acids > buildup of valine, lucine and isolucine

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13
Q

What are the byproducts of leucine, isoleucine and valine

A
  • leucine: Acetylchoa
  • Iso: Acetyle + Succinyl
  • Valine: Succinyle
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14
Q

What happens in maple syrup urine disease?

  • at birth
A

Asymptomatic

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15
Q

What happens in maple syrup urine disease?

  • first day
A

Elevated branched amino acids

Leucine, isoleucine, valine

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16
Q

What happens in maple syrup urine disease?

  • 2-3 days
A

Non-specific signs of metabolic intoxication

Irritability, anorexia, hypersomonlence

17
Q

What happens in maple syrup urine disease?

  • 4 to 6 days
A
  • Worsening encephalopathy
    (Lethargy, apnea, fencing\cycline)
  • odor of maple syrup in urine
18
Q

What happens in maple syrup urine disease?

  • seven to ten days
A

Severe intoxication (cerebral edema, coma and respiratory failure)

19
Q

How to diagnose maple serup urine disease

A
  • TMS: elevated leucine and alloisoleucine
  • basic: metabolic acidosis and ketonuria
  • genetic: homozygous mutation of MSUD gene
20
Q

How to confirm MSUD?

A

Homozygous mutation in MSUD genes

21
Q

How to treat MSUD?

A
  • leucine restriction in diet
  • enteral thiamine trial
  • liver transplant
22
Q

What is the mode of inhertence in MSUD

A

Autosomal receissive

23
Q

Does liver transplant reverse the psychomotor diability and mental illness in newborn with MSUD?

A

No

24
Q

What is the enzymatic abnormality in galactosemia?

A

GALT enzyme deficiency

25
Q

What is the final outcome of galactosemia?

A

Cataract and pseudotumor cecrebri

26
Q

How does GALT def cause the osmotic effects?

A

Galactose is converted into galactitol

27
Q

What happens if you don’t treat galactosemia

A 
1- feeding problem
2- failure to thrive 
3- hepatocellular damage 
4- bleeding 
5- E coli sepsis
28
Q

What is the common organism to cause sepsis in galactosemia patient

A

E-coli

29
Q

How to diagnose galactosemia?

A

1- high erythrocyte (G1phosphate)
2- low erythrocyte (G1phosphate uridyltranserase GALT enzyme)
3- genetic GALT mutaiton

30
Q

What is the enzyme deficiant in PKU?

A

Phenylanaline hydroxylase

31
Q

What are the clinical mainfestations of PKU

A 
1- epilepsy
2- ID 
3- musty body odor 
4- eczema 
5- decreased skin\hair pigmentation
32
Q

What is the cutoff point for phenylanaline concentration to diagnise PKU?

A

> 120

33
Q

What is the mutation in pPKU

A

PAH gene

34
Q

How to treat PKU?

A
  • low protein diet

- Phe free medical formila

Pediatrics (41 decks)

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