Pediatrics Quiz 1

allybrown271

What is pattern formation?

process by which ordered spatial arrangements of differentiated cells create tissues and organs (Gastrulation, neurulation, and axis specification)

What is the significance of gastrulation?

results in the formation of the three germ layers (ectoderm, mesoderm, endoderm)

What is the major structural feature of gastrulation?

the primitive streak in which cells in specific areas of the surface move toward a central line

What are the three parts of the ectoderm , and what does each one produce?

1) neural tube - all neural tissue, including brain and spinal cord

2) epidermis - including hair, nails, and sweat glands

3 neural crest cells - craniofacial cartilage and bone (auditory ossicles, teeth), and peripheral nervous system

What does the mesoderm give rise to?

cardiovascular system, musculoskeletal system, and urogenital system (kidneys and gonads)

What does the endoderm give rise to?

lines the digestive and respiratory tracts and forms visceral organs (liver, pancreas, bladder) and the lungs

What are some teratogens that are threats to fetal development?

alcohol, phenytoin, valproic acid, lithium, methotrexate, vitamin A, cigarette smoking, and cocaine

What are some examples of inborn errors of metabolism?

galactosemia, maple syrup urine disease, PKU, and carnitine deficiency (see full list on slide 30)

What is galactosemia?

inability to process galactose, the sugar present in milk (can lead to liver damage, brain damage, and cataracts)

What is maple syrup urine disease?

deficiency of the enzyme complex that catalyzes the derivatives of leucine, isoleucine, and valine; accumulated ketoacids are converted to sotolone (autosomal recessive disorder characterized by a sweet odor detected in cerumen, irritability, feeding difficulty, and eventually seizure and coma)

What is Phenylketonuria (PKU)?

inherited error in the metabolism of phenylalanine (allowing it to build up to toxic levels in the body)

can cause mental retardation, convulsions, behavior problems, skin rash, and musty body odor

What foods should people with PKU avoid?

meat, dairy products, dry beans, nuts, and eggs (cereals, fruits, and veggies in moderation)

What symptoms may be seen with carnitine deficiency?

myopathy, cardiomyopathy, hypoglycemia, hypoketotic, encephalopathy

Define malformation.

altered genetic and developmental processes

Define deformation and give an example.

structural defect caused by mechanical force

(Ex- clubfeet)

Define dysplasia and give an example.

abnormal development or growth of a group of tissue, organs, or cells (ex- skeletal dysplasia)

Define disruption and give an example.

physical forces interrupt or distort morphogenesis (ex- amniotic bands)

Define sequences and give an example.

the chronological order of abnormal development is understood (ex- Pierre-Robin anomaly)

Define Syndrome.

a cluster of malformations that occurs in a recognizable pattern with a known genetic cause

Define association.

malformations that are well-known to co-occur

What is APGAR? (*be able to assign a score given a scenario*)

A- appearance (color)

P- pulse (heart rate)

G- grimace (reflex)

A- activity (muscle tone)

R- respirations

When is an APGAR score recorded?

at 1 and 5 minutes of life

What are some examples of complications in premature infants? (9)

- ability to coordinate sucking, swallowing, and breathing not achieved until 34-36 weeks gestation

- lack of body fat (especially brown fat) make regulating body temp difficult

- pulmonary immaturity (surfactant deficiency)

- immature respiratory control (apnea, bradycardia)

- immature cerebral vasculature predisposes to IVH

- immature renal function complicates fluid management

- increased susceptibility to infection

- immature metabolic processes (hypoglycemia and hypocalcemia)

- gut immaturity impairs substrate absorption

What is pathologic jaundice and how is it different than physiologic jaundice?

TSB>5mg/dl BEFORE 24 hours of age; usually the result of significant hemolysis

physiologic jaundice is visible AFTER 24 hours of age and disappears in 1-2 weeks

What are the risk factors for hyperbilirubinemia?

-J- jaundice visible 1st day of life

-A- a sibling with neonatal jaundice or anemia

-U- unrecognized hemolysis

-N- nonoptimal feeding (breast or formula)

-D- deficiency of G6PD

-I- infection, infant of diabetic mother, immaturity

-C- cephalohematoma or bruising

-E- east asain, mediterranean, or native american

Which is more concerning - pathologic jaundice or physiologic jaundice?

Pathologic is more concerning! (BEFORE 24 hours of age)

What critical developmental milestones are happening at week 10 of fetal development?

-Face is recognizably human

-midgut returns from the umbilical cord into the abdomen, rotating counterclockwise to bring the stomach, small intestines, and large intestines into normal position

What critical developmental milestones are happening at week 12 of fetal development?

-Gender of the external genitals becomes clearly distinguishable

-lung development proceeds, with the budding of bronchi, bronchioles, and successively smaller divisions

What critical developmental milestones are happening at week 20-24 of fetal development?

-primitive alveoli form and surfactant production has begun (before that time, the absence of alveoli renders the lungs useless for gas exchange)

What is the only recreational drug of abuse that is clearly teratogenic and is the most common preventable cause of mental retardation?

Alcohol

Prenatal exposure to ____________ is associated with lower birth weight, shorter length, and smaller head circumference, as well as decreased IQ and increased rates of learning disabilities.

Cigarette smoke

T/F: breast feeding is contraindicated in galactosemia.

True

1 multiple choice option

What is the leading cause of death in the first year of life?

Birth defects