1
Q
What is Republic Act 9288?
A
It’s the Newborn Screening Act of 2004, enacted on April 7, 2004, aiming for all Filipino newborns to be screened for congenital metabolic disorders by 2025.
2
Q
What is the main purpose of newborn screening?
A
To detect common, life-threatening congenital metabolic disorders early to prevent mental retardation or death.
3
Q
What does CAH stands for?
A
Congenital Adrenal Hyperplasia
4
Q
What enzyme is most commonly deficient in CAH?
A
21-alpha-hydroxylase (90% of cases)
5
Q
How is CAH inherited?
A
Autosomal recessive (from both parents)
6
Q
What is the main problem in CAH?
A
Defects in adrenal hormone production due to faulty enzyme genes
7
Q
What is CH?
A
Congenital Hypothyroidism
8
Q
What hormone is deficient in CH?
A
Thyroid hormones
9
Q
List 4 causes of congenital hypothyroidism.
A
Defective development of the thyroid gland
Ectopic thyroid gland
Maternal intake of anti-thyroid drugs or iodine
Inherited enzyme deficiency for thyroid hormone synthesis
10
Q
What sugar cannot be metabolized in galactosemia?
A
Galactose
11
Q
What is the most common enzyme deficient in galactosemia?
A
Galactose-1-phosphate uridyl transferase (GALT)
12
Q
How is galactosemia inherited?
A
Autosomal recessive
13
Q
Name other enzyme deficiencies that may cause galactosemia.
A
Galactokinase, epimerase
14
Q
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Q: What is the consequence of G6PD deficiency?
A
Hemolytic anemia
15
Q
How is G6PD deficiency inherited?
A
X-linked inheritance
16
Q
What enzyme is defective in G6PD deficiency?
A
Glucose-6-phosphate dehydrogenase
17
Q
Phenylketonuria (PKU)
What amino acid is elevated in PKU?
A
Phenylalanine
18
Q
What enzyme is deficient in PKU?
A
Phenylalanine hydroxylase (PAH)
19
Q
How is PKU inherited?
A
Autosomal recessive
20
Q
When is newborn screening ideally done?
A
Between 24–72 hours after birth or after at least 24 hours of milk feeding
21
Q
What sample is used for newborn screening?
A
Heel prick blood placed on a filter card
22
Q
What happens if screening is positive?
A
A confirmatory test is required
23
Q
What are the consequences of collecting samples too early (<24h)?
A
False (+) for CH due to elevated TSH
False (+) for CAH due to elevated 17-OHP
False (–) for GAL and PKU due to low galactose/phenylalanine from inadequate feeding
24
Q
When should repeat screening be done if collected early?
A
At 2 weeks of age
25
1. The onset of puberty is:
A. Uniform for all individuals
B. Highly variable among individuals
C. Determined only by environmental factors
D. Consistent regardless of health or heredity
B. Highly variable among individuals
26
2. Once puberty begins, the sequence of pubertal events is:
A. Random
B. Inconsistent
C. Stereotypical and consistent
D. Unpredictable
C. Stereotypical and consistent
27
3. Which of the following can delay the onset of puberty?
A. Obesity
B. Heredity
C. Chronic illness
D. High-calorie diet
C. Chronic illness
28
4. Early onset of puberty is more likely in:
A. Malnourished children
B. Obese adolescents
C. Children with thyroid deficiency
D. Underweight adolescents
B. Obese adolescents
29
5. Which of the following is not a major factor influencing puberty onset?
A. Nutrition
B. Heredity
C. Health
D. Intelligence
D. Intelligence
30
6. Leptin plays a role in puberty as a:
A. Growth inhibitor
B. Hormonal regulator
C. Protein suppressor
D. Gonadal hormone
B. Hormonal Regulator
31
The gene GPR54/KiSS-1 is associated with:
A. Hair growth regulation
B. Initiation of puberty
C. Stress hormone release
D. Growth hormone inhibition
B. Initiation of puberty
32
8. Nocturnal secretion of luteinizing hormone (LH) is associated with:
A. Sleep deprivation
B. Early puberty inhibition
C. Sleep-related reinforcement during puberty
D. Daytime hormone suppression
C. Sleep-related reinforcement during puberty
33
9. Reduced sensitivity of the hypothalamus and pituitary to estradiol/testosterone results in:
A. Decreased LH and FSH secretion
B. Increased LH and FSH secretion
C. Inhibition of ovulation
D. Decrease in estrogen
B. Increased LH and FSH secretion
34
10. Ovulation is triggered when:
A. Estrogen decreases
B. Estrogen reaches critical levels and increases GnRH and LH
C. Testosterone levels drop
D. Progesterone rises first
B. Estrogen reaches critical levels and increases GnRH and LH
35
11. The hypothalamic-pituitary-gonadal (HPG) axis controls:
A. Growth hormone release
B. Reproductive development
C. Adrenal hormone secretion
D. Cortisol production
B. Reproductive development
36
12. The hypothalamic-pituitary-adrenal (HPA) axis controls:
A. Growth spurt
B. Secondary hair growth
C. Ovulation
D. Bone elongation
B. Secondary hair growth
37
13. The growth hormone (GH) axis is responsible for:
A. Hair follicle activation
B. Skeletal and overall body growth
C. Hormonal suppression during puberty
D. Fat metabolism only
B. Skeletal and overall body growth
38
14. Adrenal androgens are:
A. Essential for puberty
B. Unnecessary for puberty or growth spurts
C. Required for LH secretion
D. Produced only in males
B. Unnecessary for puberty or growth spurts
39
15. Which hormones are essential for normal growth?
A. Estrogen and progesterone
B. Cortisol and thyroid hormones
C. LH and FSH
D. Leptin and testosterone
B. Cortisol and thyroid hormones
40
16. Which statement about the HPA axis is true?
A. It regulates gonadal hormone secretion.
B. It functions independently of the HPG axis.
C. It initiates ovulation.
D. It controls nocturnal LH secretion.
B
41
17. Which of the following is a direct effect of GnRH release?
A. Ovulation inhibition
B. Stimulation of LH secretion
C. Decrease in estrogen
D. Inhibition of FSH
B. Stimulation of LH secretion
42
The positive feedback mechanism in females during puberty results in:
A. Suppression of LH
B. Inhibition of ovulation
C. LH surge leading to ovulation
D. Testosterone secretion
C. LH surge leading to ovulation
43
19. Which of the following is not part of the three hormonal axes influencing adolescence?
A. HPG axis
B. HPA axis
C. GH axis
D. Thyroid-adrenal axis
D. Thyroid-adrenal axis
44
20. The hormone leptin likely acts as a signal for:
A. Energy deficiency
B. Adequate fat stores to initiate puberty
C. Bone mineralization
D. Stress response
B. Adequate fat stores to initiate puberty
45
X-inactivation is a normal physiological process in which
1x chromosome is largely inactivated in somatic cells in normal females but not in normal males, thus, equalizing the expression of most x- linked genes in 2 sexes
46
Deleterious allele - on active x while normal allele on inactive X=
Unbalanced or skewed X inactivation
47
Glucose -6 - phosphate dehydrogenase (G6PD)
Occurs in 1 out of 52 Filipinos
This is a rate-limiting enzyme in _________ which keeps _______ in reduced state to protect oxidation of RBCs
The hexose monophosphate shunt
Glutathione
48
G6PD also produces
nicotinamide adenine dinucleotide phosphate
(NADP+) which is essential for maintenance
of______, particularly in RBCs.
cell membrane integrity
49
Deficiency of this enzyme G6PD results in the accumulation
of____ inside the cell, leading to _____.
free radicals
membrane damage
50
G6PD deficiency usually manifests with
______ 24 to 48 hours
after an affected individual's exposure to certain
drugs and foods with_____ properties such as
fava beans, aspirin sulfonamides, and antimalarials.
non-immune hemolytic anemia
oxidant
51
In severe cases of G6PD the following May ensue
Hemoglobinuria, jaundice, and anemia
52
______ main mode of management for individuals with G6PD deficiency by avoiding exposure to _______ substance
Prevention
Oxidative
53
Hemophilia A occurs in 1 out of 5,000 - 10,000 male
Hemophilia B Accors in 1 out of 20,000 - 30,000
It is a _________ disorder due to deficiency of ________ factors _____ in H a and _____ in H b
Bleeding
Blood clotting
VIII
IX
54
Hemophilia —- Hallmark symptom is _______
Hemarthrosis or spontaneous bleeding into joints
55
Hemophilia causes easy _____ and ______ in children beginning to walk
bruisability
Intramuscular hematomas
56
Hemophilia is treated by factor replacement
Factor VIII and IX
57
* X-linked recessive inheritance
Dmd or __________ occurs in 1 out of 3,500. It is caused by a mutation in ________ gene resulting in absent or deficient production of dystrophin protein
Duchenne muscular dystrophy
Dystrophin
58
Dystrophin is important for the connection of muscle fibers to the extracellular matrix, rendering integrity to the muscle wall
59
Milder allelic phenotype called BMD ___
Becker muscular dystrophy
60
Y-linked inheritance
Y-linked traits are few and only demonstrate male-to-male transmission
61
Chromosomal anomalies are a common cause of birth defects. They occur in 1 % of all live births and include abnormalities in chromosome ___ and ____.
number
structure
62
Numerical abnormalities of chromosomes are known as ______ which includes
Aneuploidy
Monosomy
Trisomy
Polysomy
Polyploidy
Mosaicism
63
____ is characterized by the presence of an
additional chromosome. It is the most common
form of aneuploidy.
Trisomy
64
Trisomies commonly arise from_______ (Figure 15-9) where the chromosomes fail to pair up initially or fail to pair properly but separate prematurely or not at all
meiotic nondisjunction
65
The risk of nondisjunction increases with
______as ____ breaks
down the chiasmata that keeps the chromosomes
aligned.
maternal age (maternal age effect)
aging
66
There are 2 earlier hypotheses that may
account for meiotic nondisjunction. The first is the
_______ hypothesis, which postulates that
oocytes_____ in life are characterized
by more_______ and less ______.
The second is the occurrence of_______ that leads to nondisjunction.
production line
ovulated earlier
recombinants
nondisjunctions
nonchiasmatic disruption
67
Recent studies revealed that
aside from increasing maternal age,_________ also contributes to the occurrence
of trisomies.
faulty meiotic recombination
68
Monosomy is the presence of only 1 chromosome
instead of the normal 2 in a diploid cell. It arises
through a similar mechanism as in trisomy
(______) or through_______. Autosomal
monosomies are almost always incompatible with
survival to term except in the presence of mosaicism
nondisjunction
anaphase lag
69
The monosomy of the sex chromosome is compatible with survival particularly those involving the X chromosome or the Turner syndrome. Occurs in around 1 in 2000 to 1 in 5,00 female live births
60% to 80% of these cases are caused by the absence paternally derived sex chromosome
70
71
______ is the existence of 2 or more cytogenetically distinct cell lines in the same
individual
Mosaicism
72
Trisomies of sex chromosomes are called ____
polysomies
73
_______ is a common cause of
primary hypogonadism in males and is seen in
approximately 1 in 500 to 1 in 1,000 male births. The
extra X chromosome is maternally derived in 50%
of the case
Klinefelter syndrome or XXY
74
Affected individuals
tend to be taller than average with long arms and
legs, gynecomastia, small . testes, and infertility.
Although intelligence is in the normal range,
there is a predisposition for learnmg disabilities
mosaïcism increases the likelihood of viable sperm production and is seen in 15% of patients
75
The main therapeutic
modality is hormone replacement with a. long-
acting testosterone preparation, which shoul~ ideal~y
commence at 11 to 12 years of age. Early diagnosis
and intervention greatly improves the prognosis of
individuals with Klinefelter syndrome.
76
The 4 7,XYY karyotype is seen in 1 in approximately
800 to 1 in 1,000 males. This condition is brought
about by a nondisjunction at paternal meiosis II. Affected individuals appear normal but tend to be
taller than average, with IQ____ of 10 to 15
points. They also have normal fertility, thus, many
cases remain undiagnosed. Formerly, this karyotype
was thought to occur more commonly among
males in prison than the general male population.
reduction
77
increased incidence of behavioral disorders such
as hyperactivity, attention deficit, temper tantrums, low frustration tolerance, and learning disabilities
47,XYY
GD
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