Pathology II Quiz 1

Infant mortality

Death of child < 1 year of age

Neonatal mortality

Death of infant < 28 days

Low birth weight

<2500g or 5.5 lbs

Very low birth weight

<1500g or 3.3 lbs

Extremely low birth weight

<1000g or 2.2 lbs

Percent of low birth weight in US

8.24%

#1 cause of infant mortality in US

Preterm birth/low birth weight

Teratogens

Negatively influencing factors of fetal development

Prenatal screening provides

Estimate of changes

Does not diagnose, signals need for more testing

Quadruple screening

Maternal blood serum, (16-18 was of pregnancy) involves :

-AFP

-hCG

Estriol

-Inhibin A

Elevated AFP =

Increased risk for NTD

Decreased AFP and abnormal levels of hCG and estriol

Increased risk for chromosomal abnormalities

If quad screen is abnormal—>

2nd quad screen

If 2nd quad screen is abnormal—>

High def US

If US abnormal then

Amniocentesis

Gestational age

<37 weeks

Full term

40m weeks

Risk factors of premature birth

Maternal age: <17, >35 yrs

Multiples

Prior preterm birth

Uterine or cervical problems

Smoking or alcohol

Incompetent cervix

Cervix starts to dilate without labor

sudden infant death syndrome (SIDS)

Sudden, unexplained death of a baby under 1 yr of age

What position should babies sleep in

On their back, not prone

SIDS prevention

Breast feeding, room sharing, back sleeping, no toys or pillows, no honey before 1 yr, room temperature

How many babies in US have birth defects

1 in 33

Genetic birth defect

From parent

Orofacial clefts

Cleft lip (unilateral or bilateral) And Cleft palate

Orofacial clefts are more common in

Males

More commonly cleft lip

Congenital limb defects

Failure of formation of part or all of a limb bud

Limb bud starts at

26 day gestation (mesodermal formation)

Amniocentesis can cause

Constriction band syndrome, fetus is entangled which can affect limb growth

Common types of limb defects

Absence

Failure to separate

Duplication

Overgrowth

Undergrowth

Constriction/ amniotic band syndrome

ISPO terminology

Transverse or Longitudinal deficiency

Transverse deficiency

No distal remaining portions

Longitudinal deficiency

Has distal portions

Names the bones that are affected

Any bone not named is present and of normal form

Transradial

Most common congenital defect

Females to males: 2:1

Longitudinal radial deficiency

Radial club Jane

Bilateral in 50% of cases

Associated with other syndromes

Most commonly complete absence of radius

Proximal femoral focal deficiency

Bilateral in 15% of cases Associated

4 classes of severity

Pediatric acquired amputations

Most commonly caused from trauma

Boys to girls 3:2

Most frequent cause of disease-related amputation

Childhood tumors

Fetal alcohol syndrome (FAS)

Most commonly identifiable causes of intellectual ability

Triad: affects facial features, growth, CNS

Irreversible prenatal brain damage

Diagnostic facial features for fetal alcohol syndrome

Smooth philtrum

Small palpebral fissures

Flat nasal bridge

Upturned nose

Small upper lip

In order to diagnose someone with fetal alcohol syndrome, must have

All three facial abnormalities

Documentation of growth defects

Documentation of CNS abnormalities

Neonatal abstinence syndrome

Baby is addicted to a drug and goes through withdrawal after birth

Begins 1-3 days after birth

Can effect CNS, GI, metabolic

Lead (Pb) poisoning

3.5 ug/dL or above in children under six years

Most commonly from Pb based paint

Why are children less than 6 years old more susceptible to toxic effects of lead poisoning

Incomplete blood-brain barrier

increased absorption from gut

Behaviors of children (crawling, hand to mouth)

Factors that increase GI absorption

Fasting, iron deficiency, Ca++ deficiency

Lean (Pb) remains where once in system and for how long

Blood (28-36)

Soft tissue (40 days)

Bones and teeth (>25 yrs)

Clinical Symptoms of Pb poisoning

Early symptoms in children are episodic and non specific, slowly intensify over time

Neurologic effects (kids/babies losing milestones)

Diagnosis of lead poisoning

Lead screening programs

Clinical findings of lead poisoning (without BLL)

Basophillic stippling of RBC

Glycosuria

Pb flecks on long bone x ray

How to prevent lead poisoning (primary prevention)

Removal of lead based products from the environment

Deformations plagiocephaly

When the skull is disformed due to repeated pressure on one part of the skull

Fontanelle

Soft spot on babies skull, allows growth

Plagiocephaly

Deformed on one side

Brachycephaly

Deportation on both sides, flat head, too much supine

Dolichocephaly

Long head

Interventions for plagiocephaly

Remolding helmets or remolding bands

Prevention of plagiocephaly

Education, alternate placement, tummy time

Chromosome disorders account for what percentage of 1st miscarriages

50%

Chromosome disorders account for what percent of ID and congenital malformations

10-15%

Incidence of Down syndrome

1/700

Risk factor for chromosomal abnormalities

Maternal age :older women more at risk

Environment

Monopsony

One chromosome at a site

(Turner syndrome)

Trisomy

3 chromosomes at a site

Down Syndrome

Edward’s syndrome

Trisomy 13

Deletion

Chunk of chromosome is lost

Down Syndrome

Trisomy 21

Most commonl genetic defect

Most common cause of ID

Trisomy 21 90-95 percent of the time is

Non-dysjunction(failure to separate)

Phenotype of Down Syndrome

Oblique palpebral fissure (slanting eyelids)

Flattened nose

Clinodactyly (bent pinky finger)

Brachydactyly

Down syndrome impairments

Hypotonia, hyperflexibility

Slow postural reactions

Visual/hearing loss

Heart and lung issues

Intellectual disability

Atlantoaxial instability

Impairment of downsyndrom, subluxation between C1 and C2

Trisomy 13 (Patau syndrome)

Rare, cleft lip, absent eyebrows, extra finger, baby will not survive for long

Trisomy 18 (Edward’s syndrome)

Rare, small jaw, pointed occiput, 95% die before first birthday

Turner syndrome (TS)

Complete or partial absence of 2nd sex chromosome

Most common type of sex-chromosome abnormality in females

Webbed neck

Reproductive organs affected

Turner syndrome system involvement

Puberty and reproduction, cardiovascular, renal, osteoporosis, endocrine, intelligence

Achondroplasia

Genetic disorder of bone growth that is evident at birth

All races and both sexes

Abnormal body proportions (normal torso, small limbs)

Etiology of achondroplasia

Mutation in a gene on chromosome 4

>80 cases are not inherited

Diagnosis of achondroplasia

X-rays and physical exam

Genetic testing

Amniocentesis

Achondroplasia characteristics

Normal intelligence and life span

Hypotonia

Bow legged, Genu varum

Angelman syndrome

Affects nervous syndrome

Loss of function of a gene called UBE3A

Always smiling, hand flapping, short attention span

Intellectual disability, severe speech impairment