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Cytogenetics > (Finals) Newborn Screening > Flashcards

(Finals) Newborn Screening Flashcards

1
Q

RA 9288

Year

A

Ye 2004

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2
Q

Screening of infants after birth for certain treatable congenital metabolic conditions that may lead to mental retardation or death if untreated which are not clinically evident during the newborn (birth to 30 days old) period

A

NEWBORN SCREENING (NBS)

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3
Q

NBS/RA9288

Enacted by congress when?

A

April 2004

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4
Q

TOF. Babies look normal at birth but develop manifestations within the next two weeks when effects may already be irreversible

A

T

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5
Q

Benefits of NBS

A

® Early diagnosis and
® intervention
® reduced financial burgen

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6
Q

Highlights, except?

A. establishes and integrate a sustainable screening system
B. every newborn has access to screening for certain heritable conditions
C.ensures that parents recognize their responsibility
D. all health practitioners are aware of the advantages of newborn screening
E. NOTA

A

E

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7
Q

First disorder that was screened in the USA

A

Phenylketonuria

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8
Q

Panel of Disorders

TOF. screening now covers more diseases but coverage
vary between countries

A

T

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9
Q

Results from lack or absence of thyroid hormone most commonly due to dysgenesis of thyroid gland,rarely due to dyshormonogenetic goiter

A

CONGENITAL HYPOTHYROIDISM

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10
Q

This disease can result to Cretinism

A

CONGENITAL HYPOTHYROIDISM

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11
Q

CONGENITAL HYPOTHYROIDISM

Screening

A. Measuring thyroxin (T4)
B. thyrotroin (Thyroid
Stimulating Hormone)
C. Both
E. NOTA

A

C

T4 is low and TSH level is high (heel stick test)

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12
Q

CONGENITAL HYPOTHYROIDISM

TOF. In terms of treatment, hormone replacement, must be initiated within 5 weeks.

A

F (2)

This disorder requires initiation of therapy within two weeks after birth, or else the baby will develop growth defects and intellectual disability.

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13
Q

Autosomal Recessive metabolic disorder with deficiency of particular enzyme in the biosynthesis of cortical steroid

A

CONGENITAL ADRENAL HYPERPLASIA

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14
Q

CONGENITAL ADRENAL HYPERPLASIA

pattern of inheritance

A

AR

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15
Q

CONGENITAL ADRENAL HYPERPLASIA

90% of cases which leads to cortisol and
mineralocorticoid deficiency

A

21-hydroxylase deficiency

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16
Q

CONGENITAL ADRENAL HYPERPLASIA

With the decrease of cortisol there will be a feedback that will increase ACTH that will eventually lead to hyperplasia of the?

A

adrenal glands

17
Q

Steroidogenesis is channeled to other pathways -> increased androgen in boys and girls -> causes?

A

virilization

apperance of hair

18
Q

promotes sodium reabsorption in the kidney in exchange of potassium, because of that lack of aldosterone

A

Aldosterone

19
Q

CONGENITAL ADRENAL HYPERPLASIA

decrease of sodium

A

hyponatremia

20
Q

CONGENITAL ADRENAL HYPERPLASIA

Primary marker used in screening CAH

A

17 - hydroxyprogesterone

21
Q

hydroxyprogesterone

detection, except:
A. autoradiography
B. Enzyme-linked Immunosorbent assay
C. Trandem mass spectrometry
D. All of the Above

A

A

22
Q

CAH Detection

This is done to reduce false positive result in the testing.

A

Tandem Mass Spectrometry

23
Q

Autosomal Recessive, disorder of galactose metabolism

A

galactosemia

24
Q

GALACTOSEMIA

TOF. Babies are unable to process galactose which is the sugar present in milk.

A

T

25
Q

GALACTOSEMIA

Accumulation of Galactose-1-PO4, except:
A. Liver, lens of the eye, cerebral cortex, spleen,
kidneys, heart muscle and RBC
B. Intestinal microvilli
C. Galacticol, galactonate
D. NOTA

A

D

26
Q

GALACTOSEMIA

Galactose upon the action of ________, will be converted to galactose-1-phosphate + ADP

A

galactokinase

27
Q

GALACTOSEMIA

galactose-1-phosphate will be
converted by ________________ to UDP-galactose and glucose-1-phosphate

A

Galactose-1 phosphate uridyl transferase

28
Q

GALACTOSEMIA

This UDP-galactose will be converted to?

A

UDP-Glucose

29
Q

GALACTOSEMIA

TOF. Patients with this conditions are seen to be normal.

A

F

Patients with this condition are seen to have failure to thrive, they have jaundice

30
Q

GALACTOSEMIA

This accumulation can cause formation of cataract within few weeks after birth

A

Galacticol accumulation

31
Q

GALACTOSEMIA

loss of nerve cells, gliosis, and can also cause edema (MR in 6-12 months)

A

CNS

32
Q

GALACTOSEMIA

Due to the impaired amino acid transport of the kidney, it will secret?

A

aminoaciduria

Cytogenetics (18 decks)

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