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MTLB | MIDTERMS > RA 9288 > Flashcards

RA 9288 Flashcards

1
Q

identify

obligation to inform

sections

A

section 5

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2
Q

identify

Robert Guthrie used blood samples collected through the finger pricking of a newborn’s (?) on the second day of his life

history of newborn screening test

A

feet

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3
Q

identify

The NIH shall establish a Newborn Screening Reference Center, which shall be responsible for the national testing database and case registries, training, technical assistance and continuing education for laboratory staff in all Newborn Screening Centers

sections

A

section 13

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4
Q

identify

Newborn screening shall be performed after twenty-four (24) hours of life but not later than three (3) days from complete delivery of the newborn.

A newborn that must be placed in intensive care in order to ensure survival may be exempted from the 3-day requirement but must be tested by seven (7) days of age.

It shall be the joint responsibility of the parent(s) and the practitioner or other person delivering the newborn to ensure that newborn screening is performed.

An appropriate informational brochure for parents to assist in fulfilling this responsibility shall be made available by the Department of Health and shall be distributed to all health institutions and made available to any health practitioner requesting it for appropriate distribution

sections

A

section 6

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5
Q

identify

characterized by having 31 amino acid added to the alpha chain. Clinically resembles alpha thalassemia

hemoglobinopathies

A

hemoglobin constant spring

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6
Q

identify

The patient may experience muscle problems, poor feeding, vomiting, and seizure. The disorder is often fatal

fatty acid oxidation disorder

A

medium chain acyl-CoA dehydrogenase deficiency

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7
Q

identify

refusal to be tested

sections

A

section 7

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8
Q

identify

physicians, nurses, midwives, nursing aides and traditional birth attendants

A

healthcare practitioner

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9
Q

identify

The DOH shall be the lead agency in implementing this Act

sections

A

section 10

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10
Q

identify

characterized by the absence or poor functioning of the thyroid gland, resulting in the reduced production of thyroxine (increased thyroid stimulating hormones).

Newborns with a deficiency of thyroxine may have severe intellectual disabilities and growth problems

endocrinopathies

A

congenital hypothyroidism

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11
Q

identify

performance of newborn screening

sections

A

section 6

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12
Q

identify

The DOH shall ensure that Newborn Screening Centers are strategically located in order to be accessible to the relevant public and provide services that comply with the standards approved by the Committee upon the recommendation of the NIH.

No Newborn Screening Center shall be allowed to operate unless it has been duly accredited by the DOH based on the standards set forth by the Committee

sections

A

section 12

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13
Q

identify

NIH

A

national institute of health

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14
Q

identify

a facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions

A

newborn screening center

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15
Q

identify

establishment of a newborn screening reference center

sections

A

section 13

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16
Q

identify

the monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine of dietary prescriptions

A

follow-up

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17
Q

identify

It was in (?), when the credit for discovering the earliest screening for phenylketonuria was given to (?)

history of newborn screening test

A
  • 1960
  • Robert Guthrie
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18
Q

identify

The newborn screening test is (?) because a series of follow-up procedures should be made to clarify abnormal results

A

non-diagnostic

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19
Q

identify

the various means of providing parents or legal guardians information about newborn screening

A

parent eduction

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20
Q

identify

a newborn screening system that includes, but is not limited to, education of relevant stakeholders; collection and biochemical screening of blood samples taken from newborns; tracking and confirmatory testing to ensure the accuracy of screening results; clinical evaluation and biochemical/medical confirmation of test results; drugs and medical/surgical management and dietary supplementation to address the heritable conditions; and evaluation activities to assess long term outcome, patient compliance and quality assurance

A

comprehensive newborn screening system

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21
Q

identify

the provision of prompt, appropriate and adequate medicine, medical, and surgical management or dietary prescription to a newborn for purposes of treating or mitigating the adverse health consequences of the heritable condition

A

treatment

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22
Q

identify

five (5) amino acid disorders

A
  • phenylketonuria
  • maple syrup urine disease
  • alkaptonuria
  • tyrosinuria/tyrosinemia
  • cystinuria
23
Q

identify

One of the most recently discovered fatty acid oxidation disorder

A

medium chain acyl-CoA dehydrogenase deficiency

24
Q

identify

after the discovery of phenylketonuria in 1960, It was followed by the discovery of congenital hypothyroidism in (?)

history of newborn screening test

A

1970

25
Q

identify

hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with obstetrical and pediatric services, whether public or private

A

health institutions

26
Q

identify

the most common thalassemia

A

alpha and beta thalassemia

27
Q

identify

characterized by a defect in one or more enzymes involved in heme synthesis resulting in the accumulation of porphyrin in the bone marrow or the liver

hemoglobinopathies

A

porphyrias

28
Q

identify

any condition that can result in mental retardation, physical deformity or death if left undetected and untreated and which is usually inherited from the genes of either or both biological parents of the newborn

A

heritable condition

29
Q

identify

This is an inherited autosomal recessive disorder characterized by a deficiency in phenylalanine hydroxylase (converting phenylalanine into tyrosine). It may result in severe mental retardation.

amino acid orders

A

phenylketonuria

30
Q

identify

a disease of an endocrine gland

A

endocrinopathy

31
Q

identify

clinical disorder characterized by a deficiency of the enzyme steroid 21-hydroxylase which comes in two forms, namely simple virilizing and salt-wasting

endocrinopathies

A

classic adrenal hyperplasia

32
Q

identify

It is considered an autosomal recessive disorder which is characterized by a thick mucus in the lungs and digestive system resulting in respiratory infection and difficulty in food digestion

conditions

A

cystic fibrosis

33
Q

identify

having an amino acid substitution lysine for glutamic acid on the sixth position of the beta chain

hemoglobinopathies

A

hemoglobin C disease

34
Q

identify

double heterozygous condition in which an abnormal S gene from one parent is inherited and an abnormal C gene for another parent is also inherited

hemoglobinopathies

A

hemoglobin SC disease

35
Q

identify

the central facility at the NIH that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the program, oversees content of educational materials and acts as the secretariat of the advisory committee on newborn screening

A

newborn screening reference center

36
Q

identify

establishment and accreditation of newborn screening centers

sections

A

section 12

37
Q

identify

Any health practitioner who delivers, or assists in the delivery, of a newborn in the Philippines shall, prior to delivery, inform the parents or legal guardian of the newborn of the availability, nature and benefits of newborn screening.

Appropriate notification and education regarding this obligation shall be the responsibility of the Department of Health (DOH)

sections

A

section 5

38
Q

identify

clinical condition whose predominant cause is gene deletion

hemoglobinopathies

A

thalassemia

39
Q

identify

having an amino acid substitution glutamine at the 121st position of the beta chain

hemoglobinopathies

A

hemoglobin D disease

40
Q

identify

A newborn that must be placed in intensive care in order to ensure survival may be exempted from the 3-day requirement but must be tested by (?) days of age

section 6

A

7

41
Q

identify

a condition associated with abnormal heme synthesis, haemoglobin variants, and globin synthesis

conditions

A

hemoglobinopathies

42
Q

identify

The most common form of amino acid disorder

amino acid disorders

A

phenylketonuria

43
Q

identify

the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing for determining if the newborn has a heritable condition

A

newborn screening

44
Q

identify

a clinical condition in which erythrocytes become rigid and trapped in capillaries

hemoglobinopathies

A

sickle cell disease

45
Q

identify

RA 9288

A

Newborn Screening Act of 2004

46
Q

identify

It mandates the newborn screening procedure as it is a national policy in favour of the child’s health

It is the policy of the State to protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals

A

RA 9288

47
Q

identify

lead agency

sections

A

section 10

48
Q

identify

a child from the time of complete delivery to 30 days old

A

newborn

49
Q

identify

Newborn Screening Act of 2004

A

RA 9288

50
Q

identify

The newborn screening ((?) hours after birth; at ICU: within (?) days of age) is usually subject to laboratory examination.

Both (?) and (?) samples are collected, and a series of laboratory tests are performed including ferric chloride, sodium nitroprusside, clinitest and Guthrie tests.

A
  • 24
  • 7
  • urine
  • blood
51
Q

identify

a procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment

A

recall

52
Q

identify

a parent or legal guardian may refuse testing on the grounds of religious beliefs, but shall acknowledge in writing their understanding that refusal for testing places their newborn at risk for undiagnosed heritable conditions.

A copy of this refusal documentation shall be made part of the newborn’s medical record and refusal shall be indicated in the national newborn screening database

sections

A

section 7

53
Q

identify:

date of approval: (?)
term: (?)
sections (?)

RA 9288

A
  • april 7, 2004
  • gloria macapagal-arroyo
  • 19
54
Q

identify

Newborn screening shall be performed after (?) hours of life but not later than (?) days from complete delivery of the newborn

section 6

A
  • 24
  • 3

MTLB | MIDTERMS (5 decks)

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