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CASE 22 NEURAL TUBE DEFECT > Relevant EMCQPC22-1 > Flashcards

Relevant EMCQPC22-1 Flashcards

1
Q

What is the most common severe central nervous system anomaly, second only to cardiovascular abnormalities?
a. Neural tube defects
b. Cerebral palsy
c. Hydrocephalus
d. Spina bifida

A

A

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2
Q

What is the origin of the nervous system?
a. Endoderm
b. Mesoderm
c. Ectoderm
d. Neuroectoderm

A

Ectoderm

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3
Q

What is the process called that forms the brain and spinal cord through folding of dorsal neural plates?
a. Neurulation
b. Gastrulation
c. Differentiation
d. Segmentation

A

Neurulation

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4
Q

Which signaling pathway induces neural plate formation?
a. Fibroblast growth factor (FGF) signaling
b. Bone morphogenetic protein 4 (BMP4) signaling
c. Sonic hedgehog (Shh) signaling
d. Wnt signaling

A

Fibroblast growth factor (FGF) signaling

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5
Q

Which type of neural tube defects are associated with hydrocephalus and Chiari II malformation?
a. Open NTDs
b. Closed NTDs
c. Spina bifida occulta
d. Anencephaly

A

A

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6
Q

What is the failure of caudal neuropore closure called?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. Spina bifida cystica

A

D

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7
Q

What is the primary treatment for neural tube defects?
a. Surgery
b. Medication
c. Physical therapy
d. Radiation therapy

A

A

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8
Q

Which genetic alteration is associated with an increased risk of neural tube defects?
a. MTHFR C677T polymorphism
b. BRCA1 mutation
c. CFTR gene mutation
d. TP53 mutation

A

A

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9
Q

What is the prevalence rate of neural tube defects?
a. 1 in 100
b. 1 in 1,000
c. 1 in 10,000
d. 1 in 100,000

A

B. 1 in 1,000 Globally, but in South Africa the prevelance is ~53.4/1000 live births.

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10
Q

What is the role of folic acid supplementation in preventing neural tube defects?
a. Decreases the incidence rate by 71%
b. Increases the incidence rate by 71%
c. Has no effect on the incidence rate
d. Decreases the incidence rate by 50%

A

Decreases the incidence rate by 71%

Confirm with NTD genetics lecture “Does it matter” slide.
“ 70% amenable to treatment that will either save lives/ significantly reduce long term disability”. Nami angazi

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11
Q

Which investigation is the diagnostic tool of choice for prenatal screening of neural tube defects?
a. Ultrasound
b. X-ray
c. Magnetic resonance imaging (MRI)
d. Chromosomal microarray

A

Ultrasound

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12
Q

What is the most lethal type of neural tube defect?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. Anencephaly

A

Anencephaly

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13
Q

Which neural tube defect is characterized by a protrusion of the meninges and cerebrospinal fluid through a bony defect in the spinal column?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. Anencephaly

A

B

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14
Q

Which neural tube defect is characterized by a protrusion of the meninges, cerebrospinal fluid, and neural tissue through a bony defect in the spinal column?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. Anencephaly

A

c. Myelomeningocele

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15
Q

Which neural tube defect is characterized by a failure of the posterior neuropore to close, resulting in a hidden malformation of the spinal cord?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. Anencephaly

A

A.

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16
Q

Match the following neural tube defects with their associated characteristics:
A: Anencephaly
B: Encephalocele
C: Iniencephaly
D: Rachischisis

  1. Characterized by the absence of the skull and exposed brain tissue. ________
  2. Characterized by a severe malformation of the occipital bone and anencephaly. __________
  3. Characterized by the failure of neural tube closure in the caudal region. ___________
  4. Characterized by the absence of the brain, cranial vault, and scalp.
    ________________
  5. Characterized by the failure of the neural tube closure in the cranial region.
    _____________.
A
  1. B - Encephalocele
  2. C - Iniencephaly
  3. D - Rachischisis
  4. A - Anencephaly
  5. C - Iniencephaly
17
Q

What is the recommended daily dose of folic acid supplementation for women desiring pregnancy?
A) 0.1-0.3 mg
B) 0.4-0.8 mg
C) 1-2.

A

D

18
Q

Which enzyme converts folic acid into its active form?
A) Dihydrofolate reductase
B) Methionine synthase
C) Folate receptor
D) Glutamate synthase

A

A

19
Q

Open neural tube defects are associated with:
A) Exposure of neural tissue
B) Hydrocephalus
C) Chiari II malformation
D) All of the above

A

D

20
Q

What investigation is the most commonly used for prenatal screening of neural tube defects?
A) Ultrasound
B) Serum alpha-fetoprotein
C) Magnetic resonance imaging (MRI)
D) Chromosomal microarray

A

B

21
Q

Now the 5 and 3 vesicles of CNS development

A

CASE 22 NEURAL TUBE DEFECT (5 decks)

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