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MOD Exam 2 > (6) Diseases of Infancy and Childhood (Dobson) > Flashcards

(6) Diseases of Infancy and Childhood (Dobson) Flashcards

1
Q

What is the neonatal period?

A

The first four weeks of life

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2
Q

What is infancy?

A

The first year of life

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3
Q

What is considered a toddler/preschooler?

A

Ages 1-4

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4
Q

What is considered a school age child?

A

Age 5-14

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5
Q

What is an exampl of a “congenital malformation/anomaly that does’t become clinically apparent until years later”?

A

Paradoxical embolism due to PFO

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6
Q

Define

Malformation

A

A malformation represents primary errors of morphogenesis

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7
Q

Define:

Disruptions

A

Result from secondary destruction of an organ or body region that was previously normal in development

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8
Q

What is a good example of a disruption?

A

Amniotic band syndrome

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9
Q

What leads to deformations?

A

Localized or generalized compression of the growing fetus by abnormal biomechanical forces

“Uterine constraint”

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10
Q

What is a sequence?

A

Cascade of abnormalities triggered by one intiating aberration

ex: rupture of amnion –> oligohydraminos (potter sequence)

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11
Q

Define:

Agenesis

A

Complete absence of an organ

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12
Q

Define:

Aplasia

A

Absence of an organ, but from failure of the preexisting premordium

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13
Q

Define

Atresia

A

Absence of an opening (of a hollow visceral organ)

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14
Q

What does this child likely have?

A

Fetal Alcohol Syndrome Disorder

NO PHILTRUM

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15
Q

When is the window of time where most congenital anomalies occur?

A

Between weeks 3-8

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16
Q

How is prematurity defined?

A

Gestational age less than 37 weeks

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17
Q

What are the time frames for:

Extremely preterm

Very preterm

Moderate to late preterm

A

Extremely preterm : less than 28 weeks

Very preterm : 28-32 weeks

Moderate to late preterm : 32 - 37 weeks

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18
Q

What are the risk factors for prematurity?

A
  • PPROM (preterm premature rupture of membranes)
  • Intrauterine infection
  • Uterus/cervix/placental abnormalities
  • Multiple gestation
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19
Q

What are the major hazards of prematurity?

A

RDS

NEC

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20
Q

What are the clinical manifestations of respiratory distress syndrome?

A
  • Peripheral cyanosis
  • Ground glass infiltrates
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21
Q

What is the pathogenesis of RDS?

A

Deficiency of pulmonary surfactant

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22
Q

What are the primary genes involved in a genetic respiratory distress syndrome?

A

SFTPB

SFTBC

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23
Q

What is this a typical presentation of?

A

Necrotizing enterocolitis (NEC)

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24
Q

What is fetal hydrops?

A

The accumulation of edema fluid in two or more fetal compartments during intrauterine growth

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25
Q

What is this?

A

Erythroblastosis fetalis

26
Q

What are the three major etiologies of non-immune hydrops?

A
  1. Cardiovascular defects
  2. Chromosomal anomalies
  3. Fetal anemia
27
Q

Define the tumor-like category:

Heterotopia

A

Normal cells in abnormal location

28
Q

Define the tumor-like category:

Hamartoma

A

Excessive focal overgrowth of tissue native to the organ

29
Q

What is the most common tumor of infancy?

A

Capillary hemangiomas

30
Q

What is the most common extracranial solid tumor of childhood?

A

Neuroblastoma

31
Q

List the time frames/spans for infant and childhood development

A

Neonatal period (1st 4 weeks)

Infancy (1st year of life)

Toddler/Preschool (age 1-4)

School age (5-14)

32
Q

Recognize the top three primary causes of death:

Younger than 1 year

A

Congenital malformations

Premature

SIDS

33
Q

Recognize the top causes of death:

1-4 years old

A

Congenital malformations/deformations/chromosomal abnormalities

Malignant neoplasms

34
Q

Recognize the top three primary causes of death:

5-9 y/o

A

Malignant neoplasms

Congenital malformations/deformations/chromosomal abnormalities

Influenza and pneumonia

35
Q

Recognize the primary causes of death:

10-14y/o

A

Malignant neoplasms

Congenital malformations/deformations/chromosomal anomalies

36
Q

What is a malformation?

give an example.

A

Primary errors of morphogenesis, an intrinsically abnormal developmental process

Congenital heart defects, anencephaly

37
Q

What is a disruption?

give an example.

A

Results from secondary destruction of an organ or body region (was previously normal) arise from extrinsic disturbance in morphogenesis

Amniotic bands

*NOTE: Disruptions are NOT heritable

38
Q

What is a deformation?

give an example.

A

Extrinsic disturbance of development – abnormal biochemical forces

Uterine constraint, fetal placental factors

39
Q

What is a sequence?

give an example.

A

A cascade of abnormalities triggered by one intitiating aberration

Rupture of the amnion–> Oligohydraminos (potter sequence)

40
Q

What are the three major categories of congenital anomalies?

A

Genetic

Enviornmental

Multifactorial

41
Q

What are the two prinicples affecting the pathogenesis of congenital anomalies?

A

1) Timing of the prenatal teratogenic insult
2) Features of dysmorphogenesis caused by enviornmental insults can often be recapitulated by genetic defects in the pathways targed by these teratogens

42
Q

Describe the teratogenic effects of:

Cyclopamine

A

Affects the SHH pathway

(Cyclops, craniofacial abnormalities)

43
Q

Describe the teratogenic effects of:

Valproic acid

A

Affects HOX genes

44
Q

Describe the teratogenic effects of:

ATRA

A

TGF-beta pathway

(Causes cleft lip, palatte)

45
Q

What major organs BEGIN developing at weeks…

3 :

4 :

7 :

A

Week 3 : Heart, CNS

Week 4: Arms, Legs, Eyes

7: External genetalia “lucky junk”

46
Q

What is fetal growth restriction (FGR)?

A

Term infants who weigh too little for their gestational age

47
Q

What are fetal influences that can induce fetal growth restriction (FGR)?

A

Influences that intrinsically reduce growth potential of the fetus even though there is adequate supply of nutrients

EXAMPLE : TORCH group of infections (Toxoplasmosis, rubella, cytomegalovirus, herpes)

48
Q

What are placental influences that can induce fetal growth restriction (FGR)?

A

Uteroplacental insufficiency

49
Q

What are maternal influences that can induce fetal growth restriction (FGR)?

A

Preclampsia

Chronic hypertension

Thrombophilias

Narcotic and alcohol abuse

50
Q

Describe respiratory distress syndrome (RDS)

Mechanism:

Clinical signs:

A

Mechanism: not enough surfactant

Clinical signs: Cyanosis, Ground-glass picture chest ex-ray

51
Q

Necrotizing enterocolitis (NEC)

Most common in?

Pathogenesis?

Clinical manifestations?

A

Premature infants

Multifactorial pathogenesis

Bloody stools, abdominal distention, circulatory collapse, gas in intestinal wall

52
Q

What is fetal hydrops?

A

Accumulation of edema fluid in the fetus during intrauterine growth

53
Q

What is immune hydrops?

A

Hemolytic disease w/ blood group ag incompatibility b/w mother and fetus

54
Q

What is nonimmune hydrops?

A

NIH

Causes include: Turner syndrome, transplacental infections

55
Q

What are the two primary routes which perinatal infections are aquired?

A

Transvervical

Transplacental (most are parasitic)

56
Q

What are the clinical features of PKU?

A

Not able to walk/talk

MUSTY ORDOR TO URINE

57
Q

Describe galactosemia

A

Buildup of galactiol and galactonate in the tissues

Problems with the LIVER, EYES, BRAIN

kids have AMINOACIDURIA

58
Q

What is the incidence of cystic fibrosis?

A

1 : 2500 live births

Common in caucasian populations

Carrier frequency is 1 : 20

59
Q

What is the gene that is affected with CF?

A

CFTR gene 7q31.2

60
Q

What is the difference b/w SIDS and SUID?

A

SIDS = “sudden infant death syndrome” sudden death of infant under 1 year of age (dies in sleep - crib death)

SUID = “sudden unexplained infant death” the sudden death from an unexpected anatomic or biochemical basis

61
Q

What are the risk factors associated with SIDS?

A

Parental = young maternal age (<20), drug abuse, smoking, AA or american indian ethnicity

Infant = prematurity, brain stem abnormalities, SIDS in prior sibling

Enviornment = prone or LR positon, sleeping on soft surface

MOD Exam 2 (9 decks)

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