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ORPHAN DISORDERS
heterogenous group of disorders that have not been prioritized for research and development
of diagnostic and therapeutic modalities
conditions are rare genetic and/or metabolic disorders including tropical diseases
conditions affecting <1000 / million people. (WHO)
conditions affecting 1 in 20,000 individuals (PHIL)
most are disorders of genetic origin, affect metabolic functions, life threatening and
chronically debilitating
ORPHAN DRUGS
Drug Disease treated
laronidase mucopolysacharidosis I
idursulfase mucopolusaccharidosis II
galsulfase mucopolysaccharidosis VI
nelarabine T-ALL
sodium phenylacetate and benzoate urea cycle enzyme def.
nitisinon tyrosinemia
imiglucerase gauchers disease
OBESITY
risk for overweight: BMI between the 85th and 95th percentile for age and gender
overweight: BMI at or above the 95th percentile for age and gender
Weight for length is usually used in the under 2 year age group
CHILD LABOR
Most in: 5-14 yrs age group
Physical environment hazards---most common hazardous environment
--- temperature or humidity(most common)
ILO Convention No. (ILOC) 138 sets minimum ages above which work can be allowed as
necessary or even a useful part of young people’s lives
ILO Convention No. 182: different worst forms of child labor; policies for elimination of child
labor
Republic Act (RA) 9231, more popularly known as the “Anti- Child Labor Law" RA 7610:
o elimination of worst forms of child labor
o stronger protection for the working child
o Following salient features:
1. prohibits engagement of child in worst forms of labor
2. working hours of a working child below 15 and 15 but below 18
3. ownership, usage and admin of working child's income
4. setting up of trust fund
5. penalties against acts of child labor
6. prosecution of child labor
WORST FORMS of child labor:
1. all forms of slavery: "anti-trafficking in persons act of 2003"
2. prostitution, pornography
3. illegal activities/illicit activities
4. hazardous or harmful to health, safety or morals
15 and 18 y
o work in non-hazardous circumstances,
o not more than 8 hours per day
o not more than 40 hours per week
Child's Income: Not >20% child’s income for the collective needs of the family
Trust fund: at least 30% of earnings
Penalties: RA 9231: holds parents liable in case of violations
Penalties:
o P10.000-100,000
o Community service: 1month-1yr
*max length of community service if violated provisions 3x.
Child labor refers to any work performed by a child that:
1. Subjects the child to economic exploitation, or
2. Is likely to be hazardous for the child, or
3. Interferes with the child’s education, or
4. Is harmful to the child’s health or physical, mental, spiritual, moral, or social development.
Philippine Program Against Child Labor: flagship program for combating worst forms of child
labor
WALKERS
delay motor and mental development
contractures of calf muscles
prone to accidents: falls, burns, poisoning, submersions, suffocation, death
Speed: up to 3 feet/sec
Walker width: >36 inches (width of ave door)
CAFFEINE:
most widely consumed psychoactive substance
xanthine derivative
action on the cerebral cortex and brainstem
effects are dose related
o 100-200 mg:
increase alertness and wakefulness,
promote faster and clearer flow of thought
better general body coordination
Loss of fine motor control and result in dizziness
500-600 mg
restlessness, anxiety, irritability, muscle tremors,
sleeplessness, headaches, nausea, diarrhea or other gastrointestinal
Abnormal heart rhythms
stimulates the heart, dilates vessels, bronchial relaxation, increases gastric acid production
metabolic effects: releasing fatty acids from adipose tissue, increase urination-->dehydration
Caffeine poisoning:
o very tense muscles alternating w/ overly relaxed muscles
o rapid, deep breathing
o nausea &/or vomiting
o rapid heartbeat
o shock
o tremors
Medications that interact negatively w/ caffeine:
o Ciprofloxacin: increase length of caffeine time in body
o Theophylline: increase in conc when taken w/ caffeine
Beneficial Effects:
o Reduce risk: parkinson's, Type 2 DM, Colon CA, liver cirrhosis, Hepatocell CA,
gallstones
o enhance endurance & performance
o help manage asthma & headache
ocontain antioxidants (chlorogenic acid and tocopherols) & minerals (Mg) that improve
insulin sensitivity and glucose metabolism
o trigonelline (in coffee): anti-bacterial and anti-adhesive, prevents dental caries
MAX INTAKE caffeine
Children:
4-6 years 45mg/day
7-9 years 62.5mg/day
10-12 years 85mg/day
PRE-OPERATIVE EVALUATION:
all patients undergoing a diagnostic or therapeutic procedure regardless of the setting except:
(1) Healthy patients requiring nerve blocks, local or topical anesthesia and/or no more than
50% nitrogen oxide, oxygen and no other sedative or analgesic agents
(2) Patients receiving sedation analgesia or conscious sedation
PE
* anthropometrics: height & weight
* vital signs: blood pressure, heart or pulse rate and respiratory rate
(HR & RR: full minute during sleep or during a quiet moment
* major body system exam, emphasis: head and neck, cardiac, pulmonary, gastrointestinal and
extremities
LABS:
Hct: infants < 6 months old
due to increased incidence of unrecognized anemia, risk factor for perioperative apnea
and cardiac arrest
Recommendation: pre – operative clearance pedia, done ROUTINELY:
1. CBC (w/ hct,diff count, plt)
2. Chest Xray (PA-Lateral)
HIGH-RISK OPERATION:
cardiac procedures, aortic and other major vessel vascular procedures,
peripheral arterial vascular procedures,
pancreatic resection,
major spinal and orthopedic surgery,
intrathoracic,
intraperitoneal,
head and neck surgery
prolonged surgical procedures associated with large fluid shifts and or major blood loss.
SPORTS CLEARANCE
Medical conditions associated with potential risk for sudden death:
hypertrophic cardiomyopathy
coronary artery abnormalities
increased cardiac mass
less common causes: myocarditis, Marfan, MVO, dysrhythmias, Aortic stenosis, WPW
syndrome, idiopathic long QT, arrhythmogenic right ventricular dysplasia, cocaine and
anabolic steroid use, bulimia, anorexia nervosa, bronchospasm, heat-related injuries
Cardio PE
1. Precordial auscultation in both the supine and standing positions to identify, in particular, heart
murmurs consistent with dynamic left ventricular outflow obstruction;
2. Assessment of the femoral artery pulses to exclude coarctation of the aorta;
3. Recognition of the physical stigmata of Marfan syndrome; and
4. Brachial blood pressure measurement in the sitting position
BACKPACKS
Backpack >10-20% wt increase risk low back pain.
Increase risk for female and young child.
Recommendation:
o Backpack wt must not be >10% of child total body wt
o Use both straps
o Backpack never 4 inches below waistline
Injuries related:
o back pain
o spinal disease, deformities
vertebral subluxation
osteroarthritis
spondylosis
disc herniation
postural misalignments
o skin and muscle blood flow impingement: 2-3x grater than threshold for reduced blood
flow
o balance problems
o Pulmonary
ENVIRONMENTAL NOISE
o noise emitted from all sources except industrial workplace
o safe level: <85 dB
o Street traffic ---most prevalent and most damaging source of noise
o noise:
o cars: 65-75 dB
o motorcycle: 72-83 dB
o guns: >120 dB
o rock concerts: 120 dB
o adverse effect
o change in morphology and physiology of organism that results in impairment of
functional capacity, impairment of capacity to compensate for additional stress or w/c
increases susceptibility to harmful effects of other environmental influences
o NON-auditory effects
stress related to physio and behavior effects and safety
o AUDITORY effects
acoustic trauma
hearing impairment
o Hearing impairment:
o defined as increase in threshold of hearing
o characterized as ringing or buzzing sound in ear
o noise induced hearing loss occurs at higher frequencies first
o acoustic trauma: from short but extremely loud bursts of noise
o Annoyance---most common effect of noise on people
used as gauge to measure and monitor community noise
o Sleep disturbance
o >50 noise events/ night w/ max level of 50 dBA
OCCUPATIONAL NOISE
noise in the workplace
continuous noise: sound level peaks are ≤1 second apart
impulsive noise: steep rise to high peak then rapid decay or peaks have intervals >1 second
WHO:
continuous noise: 80-85dB for max 8 hrs
impulsive noise: 140 dB at any 1 exposure
Transient threshold shifts
o change in hearing threshold of an average of 10db at 2000-4000Hz in either ear
o initially only high frequencies (3000-16,000Hz) are affected
Methods to minimize noise:
o engineering control
o administrative and work practice control
o personal hearing protection
Philippines: permissible noise level: 90 dB for 8 hr period
RECREATIONAL NOISE
noise derived from leisure activities
portable music player sound is too loud when:
o set higher than 60% of maximum
o cannot hear conversation around
o people can hear one's music
o find onself shouting
60% / 30 minutes rule for music player
IPOD:
time limit volume
no time limit 0-50%
18 hrs 60%
4.6hrs 70%
<18 mins (supraural earphones) full
5 mins (stock earphones) full
3 mins (isolator) full
DENTAL CARIES--FLOURIDE
early dental caries: (≤71months old): decay,missing,filled tooth surface
Severe early dental caries: (3-5yrs):
≥ 1 decayed,missing,filled tooth in anterior maxillary teeth or
Decay,missing,filled tooth score: ≥ 4 (age 3), ≥ 5 (age 4), ≥ 6 (age 5)
Tootpaste:
≤ 3: smear
3-6: half pea size
>6: pea size
MEDIA
* 8 years old are developmentally unable to understand the difference between advertising and
regular programming
DRINKING WATER
Groundwater----- substantial source of municipal water
Chlorination--------most effective means for the disinfection of public water supply
RETINOPATHY OF PREMATURITY
ROP-->>
o Refractive errors
o Amblyopia
o Strabismus
o Blindness (due to retinal detachment)
Retina--thin layer tissue covering back of eye
Retinal vascular devt: 15-18 weeks AOG
Retinal vessel devt begin at optic nerve-->>periphery
Vessel reach
o nasal ora serrata by 3rd trimester
o temporal periphery by 40 weeks
Stressors temp arrest devt-->>ischemia, avascular periph
o Resumes at 30-34 weeks gestation
o primitive vessels continue devt w/o forward progress
o -->> ridge (grows in depth and height)
may regress w/ resumption of normal growth (indicate regression of ROP)
o alternately, may have abnormal growth-->>
o fibrovascular tissue in vitreous cavity
VEGF (vascular endothelial growth factor)
stimulated by hypoxia and ischemia
PLUS DISEASE
o inflammation of eye with retinal vessel engorgement and tortuosity of posterior pole
vessels
o may resolve w/o intervention
o may lead to vessel contraction & scar formation-->>
o macular displacement
o always precedes partial or complete retinal detachment
3 components to determine extent of disease
o Zone
o Stage
o (+)/(-) plus disease
ZONE
Zone 1 most posterior area (2x distance frm optic nerve head to fovea
Zone 2 outside zone 1
Zone 3 temporal side
STAGE
Stage 1 demarcation line separate avascular atneriorly from vascular posteriorly
Stage 2 intraretinal ridge: demarcation line increased in volume
Stage 3 ridge w/ extra-retinal fibrovascular proliferation
Stage 4 partial retinal detachment
Stage 5 Total retinal detachment
o Eye findings:
Prethreshold ROP
eye finding that are likely to progress rapidly to threshold ROP
a. Zone I, Stage 1-2 w/o plus disease
b. Zone II ROP with any:
o Stage 2 + PLUS disease
o Stage 3 - plus disease
o Stage 3 + PLUS disease but not extensive for ablative surgery
Threshold ROP
ROP in either
o Zone I or II involving
o 5 contiguous or 8 discontinuous clock hours of
o stage 3 (extraretinal)
o + PLUS disease
basis for surgical intervention
risk of 50% retinal detachment
o Screen:
BW ≤1500g or 32 weeks
between 1500-2000g with unstable course
1st exam:
4 weeks chronologic age or
31-33st post conceptual age (AOG + Chron age)
exam
weekly for prethreshold ROP
2 week interval less severe ROP in Zone II
Zone III only involve---repeat 2-3weeks
o Treatment
(+) Threshold ROP: tx w/n 72 hrs
Surgical intervention:
peripheral retinal ablation w/ cryotx or laser
scleral buckling (repair ret. detachment)
vitrectomy (release ret. traction)
o Follow-up:
1 yr-----2 1/2 yr-----4 yrs old
REPRODUCTIVE HEALTH EDUCATION AMONG ADOLESCENT
Sex education four primary goals
o 1. information,
o 2. attitudes, values, insights,
o 3. relationships and interpersonal skills,
o 4. responsibility
o Four distinct groups
delayers--not anticipate having sex in next yr
anticipators--anticipate sex in next yr
singles--had one sexual partner
multiples---2 or more partners
Phil:
o Adolescent and Youth Health and Development Program
increase knowledge and awareness on fertility, sexuality and sexual health to
80%
o Population Awareness and Sex Education (PASE)
for the out of school youth
address early marriage and unemployment of out of school youth
Population Education (POPED) curriculum's Four general competencies:
1. appreciation of relationship bet parenthood & family soidarity and stability
2. valuing importance of gender equality essential to devt
3. accept reproductive health as human right
4. appreciate importance to maintain balance between and among
population, resources, environment, sustainable devt
8 subjects integrate Sex Ed:
o Aralin panlipunan I
o Araling panlipunan II
o Filipino I
o English I
o English IV
o Science II
o Health education I
o Technology and livelihood education II
WATUSI POISONING
Watusi
o matchstick-like pyrotechinic device
o made of:
yellow phosphorus
potassium chlorate
potassium nitrate
trinitrotoluene
S/Sx:
o Vomiting---almost always present in acute phosphorous poisoning
o Severe GI:
burning throat pain
garlic odor breath and exreta
high suggest Phosphorus poisoning
Shock-->> Death in 24-48hrs
Tx:
o 4-6 egg whites
prevent further absorption of phosphate
o Normal saline solution
o directed toward Ca and Vit K
o N-acetylcysteine
correct anticipated liver injury
o Alkaline soap (Perla, ivory)
for dermal exposure
Manifestation:
o hypocalcemia, hypoprothrombinemia, metabolic acidosis, mucosal injury esophagus
LEAD
elevated blood lead levels (BLL):
o ≥ 10mg/dL:
1 venous blood specimen or
2 capillary blood specimens w/n 12 hrs
absorbed by ingestion or inhalation
95% lead found in erythrocytes
o bringing lead to bones
long after exposure lead poses threat by release of stored lead from bones
neurotoxic damage
Lead encephalopathy
o ≥ 70mg/dL
o lethargy, abdominal cramps, anorexia, irritability-->>
o vomiting, clumsiness, ataxia, alternate hyperirritability and stupor
o coma and seizures
BREASTFEEDING
Exclusive breastfeeding: fist 6months-->2 years (24months)
Breast milk: supply essential amino acids for growth and protection
Advantages
1. boost infant's host defense
- bioactive components-lysozymes, immunoglobulins, hormone and growth factors,
immune modulators, anti-inflammatory & cellular components
2. aid in GI function
- feeding-related problems (constipation, diarrhea, colic) minimized
3. protective against several disease
- reduces prevelance and morbidity of respi illness and infection
- protects from UTI, otitis media, bacteremia, bacterial meningitis, botulism, NEC
- lower risk for SIDS and IDDM (insulin-dependent DM)
4. maternal-infant bonding
5. long-term cognitive and motor abilities
6. Maternal benefits: less risk breast and endometrial cancers, inc. wt loss, lactational
amenorrhea
7. Costs
Bottle feeding:
o inc. Otitis media, H. infulenza bacteremia and meningitis; death from diarrhea
Contraindications
1. Galactosemia in infant
2. maternal illegal drug use
3. anti-neoplastic
4. radiopharmaceutials
5. active TB (relative CI)
- allowed after 2 weeks tx (during 2wks: BM via cup or dropper)
6. HIV infection (relative CI)
BABY-FRIENDLY HOSPITAL INITIATIVE 1992:
Every facility that provides maternity services and care for newborns:
1. written breast feeding policy
2. train all health care staff in skills to implement policy
3. inform all pregnant women (benefits & management of breastfeeding)
4. initiate breastfeeding w/n half an hour of birth
5. show how to breastfeed & maintain lactation
6. no food or drink other than breast milk
7. practice rooming-in
8. breastfeeding on demand
9. no artificial teats or pacifier
10. breastfeeding support groups
Republic Act (RA) No. 7600
o "The Rooming-In and Breastfeeding Act of 1992"
o advantages of breastfeeding
DROWNING
Drowning: LEADING CAUSE of CHILD INJURY DEATH in the Philippines
24% of child injury mortality
1-4 yrs old: accidents:(submersion, suffocation, foreign bodies) 7th overall cause of mortality
o rate: 5.93 deaths per 100,000
5-9 yrs old: accidents:(submersion, suffocation, foreign bodies) 4th
10-14 yrs old: accidents:(submersion, suffocation, foreign bodies) 4th
Phil: world record for deaths at sea; world record for worst single tragedy at sea
Phil: most disaster prone country in the world
o typhoons, tropical storms and floods--most common mode of disaster
Drowning:
o 2nd rank in injury mortality for both sexes ( 1st= vehicular accidents)
o male and female deaths 12.5 and 8.2 per 100,000 respectively
o 0-4 yrs old: at home or open water in urban setting
o 5yrs & older: natural bodies of water and public pools
o 15-19yrs old: alcohol factor
Phil:
o average age of commercial fishing boats: 20 years
o average age of mostly second-hand fleet passenger ferries: 10 years
BURN INJURY
less than 5 yrs old: majority of burn injuries at home
Burn: 5th leading cause of childhood mortality
Scalding--leading mechanism of injury
Fire-related injuries:
o DOH: "Oplan: Iwas Paputok"--yearly program to avoid fire-related injuries
o R.A. 7183--reuglate & control the manufacture, sale, distribution and use of
firecrackers