Professional Documents
Culture Documents
PHENYLKETONURIA (PKU)
GALACTOSEMIA (GAL)
- PKU is an autosomal recessive
metabolic disorder in which the body
cannot properly use one of the
building blocks of protein called
phenylalanine, an essential amino
acid that converts into tyrosine
causing elevation of phenylalanine in
the blood.
- Screening of newborns for PKU entails
- -GAL is a condition in which the bdy is
simple heel stick blood sampling test
unable to process gaactose, the
called Guthrie test
sugar present in milk.
- Phenylalanine is neurotoxic phosphate dehydrogenase which
- Excessive accumulation of helps red blood cells function normally
phenylalanine in the body causes - This deficiency can cause hemolytic
brain damage anemia usually after exposure to
- Phenylalanine hydroxylase (PAH) is certain medications, foods or even
either missing or not working properly infections
- The first effects are usally seen arounf - G6PD is one of many enzymes that
6 months of age help the body process carbohydrates
- Untreated infants may be late in and turn them into energy
learning to sit, crawl and stand. They - G6PD also protects RBC from
may pay less attention to things potentially harmful byproducts that
around them. can accumulate when a person takes
- Without treatment, a child with PKU certain medications or when the body
will become mentally retarded is fighting an infection
- Without G6PD to protect the blood,
CLINICAL Manifestations: RBC can be damaged or destroyed
- Severe intellectual impairment - Hemolytic anemia is a disorder in
- Microcephaly which the RBCs are destroyed faster
- Eczema than the bone marrow can produce
- Seizures them
- Hypopigmentation Kids with G6PD deficiency typically do not
- Hyperactivity show any symptoms of the disorder until
- Autistic behavior their RBC are exposed to certain triggers
which are:
Management: ● illness (bacterial and viral infections)
- Should start as soon a possible but no ● certain painkillers and fever
later than 7 to 10 days reducing dtugs like aspirin
- Protein diet restriction ● certain antibiotics( especially those
that have”su;f” in their nameslike
sulamethoxazole- bactrim)
G6PD DEF ● certain antimalarial drugs ( those
- G6PD deficiency is an X-linked that with “quine” in their names like
hereditary disease, which means it is chloroquine(
caused by a defective gene and ● Soya foods-taho, tokwa, soy sauce
effects males almost exclusively and is - Red wine
transmitted by the mother only to son - Legumes- monngo, garnazos,
or daughter who will become another abitsuelas
carrier. - Vitamin K
- Glocuse-6-Phosphate Dehydrogenase - Naphthalene (moth balls)
Deficiency - blueberries
- An inherited condition in which the - s/s: anemia like symptoms
body lacks the enzyme glucose-6 ● Paleness ) in darker-skinned children
paleness is sometimes best seen in the
mouth, especially on the lips or
tongue)
● Extreme tiredness
● rApid heartbeat
● Rapid breathing or shortness of
breath
● Jaundice or yellowing of the skin
and eyes particularly on newborns
● Enlarged spleen
● Dark-tea-colored urine
- Prevention/treatment
● Limit exposure to the triggers
● Folic acid
● Phototherapy
● Blood transfusion
CONGENITAL HYPOTHYROIDISM
HYPOTHYROIDISM
- is a condition in which the person does not
make enough thyroid hormone.
APGAR SCORE and 10, it will receive normal care
from there on out
● if the newborn scores between a 4
and 6, they may need help breathing
● anything lower than a 4, would
What is the APGAR SCORE? mean that the infant needs extreme
- The Apgar score is a scoring system measures to save it's life
doctors and nurses use to assess
newborns one minute and five
A is for Activity
minutes after they’re born.
- How is your baby’s movement?
- Dr. Virginia Apgar created the system
● 0 point - no movement. Almost “limp’’
in 1952, and used her name as a
● 1 point - some flexing in the arms an/or
mnemonic for each of the five
legs
categories that a person will score.
● 2 points - active. Arms and legs flex resist to
Since that time, medical professionals
extend
across the world have used the
scoring system to assess newborns in
P is for Pulse
their first moments of life.
- How fast is baby’s heart rate? (in 1
- Medical professionals use this
minute)
assessment to quickly relay the status
● 0 point - no pulse
of a newborn’s overall condition. Low
● 1 point - less than 100 beats per minute
Apgar scores may indicate the baby
● 2 points - higher or equal to 100 beats per
needs special care, such as extra help
minute
with their breathing.
G is for Grimace
What is the Apagar Score?
- How does your baby react when
● the first test given to a newborn to
being irritated?
determine it's physical condition
● 0 point - no response
(occurs right after birth)
● 1 point - only facia; expression
● recorded at 1 and 5 minutes after
● 2 points - pulls away, cries, sneezes etc
birth
● calculated by adding points, either
2,1, or 0
A is for Appearance
● best possible score is out of 10
- What color is your baby?
● points given for muscle tone, skin
BLUE (WHERE)
color, heart rate, respiratory effort,
● 0 point - Everywhere
and response to stimulation
● 1 point - everywhere but the torso
● 2 points - normal (PINK)
What do the Apgar Scores mean?
R is for Respirations
● after the 1 minute Apgar evaluation,
- What is the baby’s breathing like?
if the newborn scores between a 7
● 0 point - absent
● 1 point - slow,weak.irregular
● 2 points - strong cry, normal effort and rate
APGAR SCORE
SCORE OF 0 SCORE OF 1 SCORE OF
2
ACTIVITY absent Flexed arms and active
legs
(muscle tone)
POSTURE
SQUARE WINDOW
ARM RECOIL
HEEL TO EAR
1. TEMPERATURE
-measured from the top of the head to the Conduction- transfer of heat to a
bottom of one of their heels cooler solis object in contact with the
baby.
Female – 53 cm (20.9 in)
Males – 54 cm ( 21.3 in) Radiation – transfer of heat to a cooler
solid/object not in contact with the
baby.
SKIN
2. PR
A. Color
Transient murmurs - incomplete
- ruddy/red ( term)- RBC and less SQ fats
closure of fetal circulation shunts
- cyanosis- decrease oxygenation
Immediately after birth - 180bpm
- hyperbilirubinemia- yellow /jaundice
Within an hour after birth- 120-140bpm
- pallor- pale( anemia)
Irregular because of the immaturity of
the cardiac regulatory center in the B. Birthmarks
medulla.
C. Vernix caseosa
Femoral pulses can be felt readily in a
D. Lanugo
newborn. If absent = suggest possible
coarctation ( narrowing) of the aorta. - fine downy hair
-dryness ( palms of the hand soles of the -Common in 1st born infants
feet)
-Cranium – skull
-No need treatment
-Tabes- wasting
-seen on postmature babies
F. Cephalhematoma
F. Milia
-collection of blood between the
-Pinpoint white papule foundon the cheeks periosteum of the skull
and on the bridge of the nose
E. Craniotabes NECK
When newborn’s lie on heir backs, When the side of the sole of the foot is
their head usually turn to one side of stroked in an inverted “J” curve from
the other. the heel upward.
The arm and the leg on the side to This reaction occurs because nervous
which the head turns extend, and the system development is immature.
opposite arm and leg contract
Remains positive until 3 months of age
Movement is evident in the arms
• Vitamin K- given to form blood clots • Positions the newborn prone on the
and to stop bleeding. Vitamin mother’s abdomen.
deficiency bleeding(VKDB). (0.5mg-
• Covers the newborn’s back with a dry
weighing below 1,500g & 1.0mg-
blanket.
weighing above 1,500mg).
• Covers the newborn’s head with a
• BCG-Bacille Calmette-Guerin-
bonnet.
vaccine given to baby to protect
them from serious forms of • Removes the 1st set of gloves prior to
tuberculosis(TB) such as TB cord clamping and cutting.
meningitis(infection of the brain).
• Clamps and cuts properly timed cord
between 1-3 minutes.
ANTHROPOMETRIC MESAUREMENTS • Injects oxytocin 10 IU to the mother’s
deltoid.
• LENGTH-48CM-50 CM
• Checks the mother’s condition and
• WEIGH- 2.5KG- 3.5KG
delivers the placenta.
• HEAD CC- 33 CM-35 CM
• Initiates breastfeeding for the 1st 30-60
• CHEST CC-30CM-33CM minutes.
PROCEDURE (PORTFOLIO)
ASSESSMENT
BCG VACCINE
ANTHROPOMETRIC MEASUREMENTS
TEMPERATURE 1. RR
2. PR
99 farenheit (37.2 degree celcius)- 3. TEMP
they have this temp. because they 4. BP
are in uterus
drop in temp. (hypothermia, no
clothing)
newborn have no brown fat,
especially immature, but term baby APPEARANCE OF NEWBORN
have which warm their bodies
SKIN
brown fat (thorax, perineal)
they are crying and kicking to Color
produce metabolism for heat
ruddy/red- RBC, less subcutaneous
fat- grade of 2
cyanosis- decrease oxygen
PULSE RATE
yellow/jaundice
180 beats per min., but after 3 mins or pallor- pale (grade of 0)
1 hour, it becomes 120-140 bpm
Birth marks
Transient murmurs is normal
When palpating femoral pulse, you vernix caseosa- skin folds, provides
can feel it, but if you can’t, there is a warmth, acts as a thermoregulator,
contraction of aorta do not remove
Radial and tempral pulse are hard to lanugo
palpate desquamation- leather-like skin
milia- bridge of nose, cheeks, related
to immature sebaceous glands, just
RESPIRATORY RATE like white heads, do not scratch
because it causes infection
1 min- 80 bpm
erythema toxicum
forcep marks- assisted forcep delivery open evenly, if not, there is a problem
in CN 7, tounge is large, epstein pearls
HEAD
(palate)- calcium
Fontanelle
Sutures
Molding CHEST
ANOGENITAL AREA
EYES
testes (pendulous)
no tears until 3 months because of female (big labia)
immature sweat glands
presence of blood on conjunctiva
related to pressure
EXTREMITIES
NOSE
large
MOUTH