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MOD Exam 2 > Ch. 10: Diseases of Childhood and Infancy > Flashcards

Ch. 10: Diseases of Childhood and Infancy Flashcards

1
Q

What is the age range for a neonate

A

First 4 weeks of life

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2
Q

What is the age range for an infant?

A

First year of life

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3
Q

What is the age range for a toddler?

A

1-4 years old

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4
Q

What is the age range for a child

A

5 - 14 years old

AKA my baby is 72 months!

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5
Q

What are the leading causes of death in infancy?

A
  • Congenital Abnormalities
  • Short Gestation and Low Birth weight
  • SIDS
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6
Q

What are the major causes of death in children 1-4 years old?

A
  • Accidents
  • Congenital malformations
  • Assault
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7
Q

What are the leading cause of death in children 5 - 14 years old

A
  • Accidents
  • Malignant neoplasms
  • Tied at 3
    (5-9 y/o): congenital malformations
    (10 - 14 y/o) self-harm/suicide
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8
Q

Define congenital anomaly

A

anatomic defects that are present at birth, but some, such as cardiac defects and renal anomalies, may not become clinically apparent until later

DOES NOT HAVE TO BE GENETIC

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9
Q

What is a malformation

A

primary errors of morphogenesis, in which there is an intrinsically abnormal development process. They can be chromosomal, single gene, or multifactorial

ie. septal heart defects, anencephaly

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10
Q

What is a disruption with respect to congenital abnormalities

A

result from secondary destruction of an organ or body region that was previously normal in development - extrinsic disturbance in morphogenesis.

ie amniotic bands (fig 10-2)

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11
Q

What is a deformation

A

Like disruption, there is an extrinsic cause. Generally from local or general compression of the fetus resulting in abnormal biomechanical forces.

most common is uterine constraint

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12
Q

What is a sequence with respect to congenital abnormalities?

A

a cascade of anomalies triggered by one initiating aberration.

ie Oligohydramnios (Potter’s sequence)

10-3/4

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13
Q

What is agenesis

A

complete absence of an organ and its associated primordium

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14
Q

What is aplasia

A

absence of an organ due to the failure of growth of an existing primordium

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15
Q

What is atresia?

A

describes the the absence of an opening, usually a hollow or visceral organ

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16
Q

What is dysplasia

A

in the context of malformations is the abnormal organization of cells.

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17
Q

What are the three major causes of congenital abnormalities

A

Genetic

- Chromosomal 10-15%
- Mendelian Inheritance (2-10%)

Environmental

 - Maternal/placental infection (2-3%)
 - Maternal disease (6-8%)

Multifactorial - 20-25%
Unknown - 40-60%

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18
Q

Which of the following organ systems has the latest critical period for development?

A. CNS
B. Arms
C. External Genitalia
D. Eyes

A

C. External Genitalia

High yield is fig 10-5 in development for systems, probably going to ask about viability

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19
Q

When is the fetus most susceptible to teratogens

A

between 3rd and 9th week

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20
Q

Describe the relationship between teratogens and the defects they produce with respect to genetic abnormlaities

A

features of dysmorphogenesis caused by environmental insults can often be recapitulated by genetic defects in the pathways targeted by these teratogens

ie

cyclopamine - holoproencephaly in sheep via hedgehog

-Valproic acid - HOX disruption: limb and CNS issues

Vit A - necessary for development, too much knock out TGF-B: cleft palate

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21
Q

What is prematurity which respect to neonates?

A

gestational age less than 37 weeks, second most common cause of neonatal mortality

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22
Q

What are chorioamnionitis and funisitis?

A
  • inflammation of placental membranes

- inflammation of fetal umbilical cord

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23
Q

Describe the fetal abnormalities associated with fetal growth restriction (born small at term).

A

intrinsically reduce the growth potential of the fetus despite an adequate supply of nutrients from the mother. Often is systemic (everything affected)

ie chromosomal disorders, TORCH infections

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24
Q

Describe the placental abnormalities associated with fetal growth restriction (born small at term).

A

During third trimester, vigorous growth by the fetus puts heavy demand on placenta.

ie uteroplacental insufficiency (single uterine artery, placental hemangioma). Tend to be asymmetric (disproprotionate) with relative sparing of the brain.

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25
Q

Describe the maternal abnormalities associated with fetal growth restriction (born small at term).

A

Most common maternal SGA factors are ones that reduce placental blood flow ie preeclampsia, chronic hypertension, thrombophilias (antiphospholipid antibody syndrome)

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26
Q

Which of the following would lead to neonatal respiratory distress syndrome?

A. Hyaline cartilage desposition around alveoli

B. Excessive sedation of mother

C. Fetal head injury

D. Aspiration of blood or amniotic fluid

E. All of the above

A

E. All of the above

but hyaline cartilage deposition is most common

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27
Q

What causes a fetus to be susceptible to RDS?

A

immaturity of the lungs and deficiency of surfactant.

occurs
60% <28 weeks
30% 28-34 weeks

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28
Q

Deficiency in which two surfactant type would lead to increased suception of atelectasis?

A. SP-A & SP-D
B. SP-B & SP-C
C. SP-A & SP-B
D. SP-C & SP-D

A

B. SP-B & SP-C

SP-A & SP-D - important for infection control

Mutations in SFTPB and SFTPC are major causes

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29
Q

What would you be expected to find on examination of a neonate’s lungs with RDS

A
  • reddish-purple appearance close to liver with no air

- microscopically necrotic debris is present and incorporated into eosinophilic hyaline membranes

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30
Q

What are the clinical features of Respiratory distress syndrome

A

TOO MUCH VENT

  • retrolental fibroplasia
  • bronchopulmonary dysplasia
  • Patent ductus arteriosus
  • intraventricular hemorrhage
  • necrotizing enterocolitis
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31
Q

Describe necrotizing enterocolitis

A

Most common in premature infants. Multifactorial pathogenesis including prematurity, enteral feeding, and neonatal insult (bacteria).
-High PAF levels.

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32
Q

What are the clinical presentations of Necrotizing Enterocolitis

A

Involves the terminal ileum, cecum, and ascending colon. Involved segment is congested and thin. high perinatal mortality

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33
Q

what are the two routes of perinatal infections

A

Transcervically (ascending)
- Most bacterial and some viruses

Transplacentally (hematologic)

-most parasites and viruses and few bacteria

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34
Q

Describe fetal hydrops and what are the two types

A

accumulation of edema fluid in the fetus during intrauterine growth. Immune vs non-immune

35
Q

Describe immune hydrops

A

hemolytic disease caused by a blood group antigen incompatibility between mother and fetus.

Rh + first baby all good
Rh+ second baby shit goes down

36
Q

why are fetal hydrops caused by ABo antigens different than Rh antigens

A

ABO are IgM which dont cross the placenta.

neonatal RBC express ABO poorly

many cells other than RBC express ABO and thus absorb the antibody

37
Q

What are the two main complications that result from immune hydrops

A

Anemia - depending on severity can lead to cardiac hypoxia.

Jaundice - hemolysis -> unconjugated bilirubin -> kernicterus

38
Q

What are the three major causes of non immune hydrops

A

cardiovascular defects

Chromosomal defects

fetal anemia

39
Q

What are the clinical features of hydrops

A

minimally affected infants display pallor with or without hepatosplenomegaly.

Grave case has jaundice, edema, and signs of neurologic injury

40
Q

How are most inborn errors of metabolism inherited

A

Autosomal Recessive

X-linked Recessive

41
Q

Describe Phenylketonuria (PKU)

A

common in persons of scandinavian descent and uncommon in jewish or AA populations.

autosomal recessive deficiency in phenylalanine hydroxylase resulting in accumulation of phenylalanine

42
Q

What is the clinical presentation of PKU

A

normal birth weight, within 6 months develop severe cognitive dysfunction.

1/3 cant walk, 2/3 cant talk and seizures, low pigment, and eczema occur.

Strong musty, mousy odor to urine

43
Q

What happens if a baby is born to a woman with PKU

A

75-90% are mentally retarded and microcephalic

15% have congenital heart disease.

maternal PKU. DC phenylalanine from before conception to after delivery

44
Q

What is the normal cause of PKU and what variant cant be treated with a decrease in Phenylalanine in the diet?

A

Normal - mutation in PAH (98%)

Variant - BH4

45
Q

Describe glactosemia

A

autosomal recessive disorder of galactose metabolism resulting in accumulation of galactose-1-phosphate in tissues.

46
Q

What are the two forms of galactosemia and what causes them

A

Common - deficiency in galactose-1-phosphate uridyl transferase

Rare- deficiency in galactokinase

47
Q

What is the clinical presentation of common, sever, galactosemia?

A

Hepatomegaly due to fatty change leading to cirrhosis

opacification of lens due to galactitol

Failure to thrive from birth, vomiting and diarrhea, jaundice.

Not as sever as PKU

48
Q

What is the incidence of Cystic Fibrosis and what ethnicity is most commonly affected?

A

1:2500

Caucasian populations

49
Q

What is the function of the CFTR gene?

A

regulates multiple additional ion channels and cellular processes. Including transmission of Cl into and out of cells.

50
Q

What is the locus of the CFTR mutation that causes CF?

A

7q31.2

I know this is nitpicky but he pulled this shit with anglemans.

51
Q

What transporter is normally inhibited by the functional CFTR transporter which results in an over absorption of sodium?

A

ENaC.

See figure 10-18

52
Q

A patient with CF has markedly thickened mucus. would Cl absorption from the lumen be impaired in their respiratory tract or in their sweat glands.

A

Sweat glands.

  • no absorption of Cl in sweat
  • No secretion of Cl in respiratory tract. Same function in intesitnal.
53
Q

What endo and exocrine organ is most affected in patients with CF?

A

Pancreas

inability to secrete bicarbonate which maintains acidity of gastric contents and backs up pancreas

54
Q

What are the 6 classes of CFTR gene mutation?

A 
Class I: Defective synthesis
Class II: Abnormal folding
Class III: Defective regulation
Class IV: Decreased conductance
Class V: Reduced abundance
Class VI: Altered function in regulation of ion channels.
55
Q

What is the classification of patients who present with symptoms unrelated to CF but harbor mutations for the CFTR gene.

A

non-classical or atypical cystic fibrosis

56
Q

You are trying to diagnose a young child with cystic fibrosis. The family cant afford the genetic test but can manage a biopsy. Which affected system would biopsy yield the least conclusive results?

A. Liver

B. Pancreas

C. Sweat Glands

D. Lungs

A

C. Sweat Glands

morphologically unchanged by CF and you cant lick a baby…. thats one way to lose your license.

57
Q

Which non respiratory system is affected in 80-90% of patients with CF?

A

Pancreatic.

Azoospermia is affected in 95% of males who survive to adulthood.

58
Q

What is the definition of SIDS

A

the sudden death of an infant under 1 year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination the death scene and review of the clinical history.

59
Q

What is the difference between SIDS and SUID?

A

SUID arrives at an explanation after autopsy while SIDS does not.

Sudden unexplained Infant Death

60
Q

What are the four categories of risk factors for SIDS

A

Parental

Infant

Environment

Post mortem abnormalities in cases of suspected SUID

61
Q

What are the common findings associated with SIDS

A

Multiple petechiae
Lung congestion with edema
Astrogliosis of brain stem and cerebellum

62
Q

how many deaths per year occur in the US related to SIDS and how old are most of the infants?

A

2000

in first 6 mo of life (2-4 mos)

63
Q

Define heterotopia

A

applied to microscopically normal cells in abnormal locations

AKA choristoma

64
Q

Define hamartoma

A

excessive, focal growth of cells and tissues native to an organ in which it occurs.

65
Q

What is a hemangioma?

A

most common tumor of infancy. There are capillary and cavernous hemangiomas.

66
Q

Which of the following malignancies is unique to a child aged 0-4 years?

A. Leukemia
B. Retinoblastoma
C. Neuroblastoma
D. Wilms Tumor

A

D. Wilms Tumor

Table 10-7 make a reservation

67
Q

Where are the most common places for children to experience tumors?

A 
hematopoietic
nervous tissue
Adrenal Medulla 
Retina
Soft tissue 
Bone 
Kidney
68
Q

What is the significance of the blastoma suffix?

A

cells have more primitive, undifferentiated appearance and are characterized by sheets of cells with small round nuclei.

this is why they are called small round blue cell tumors

69
Q

What is one diagnostic test that can be done to test for neuroblastomas?

A

serum vanillylmandelic acid

Serum homovanillic acid

70
Q

What gene is mutated that caused neuroblastoma

A

anaplastic lymphoma kinase

ALK gene

71
Q

What is the prevalence of neuroblastomas

A

1:7000

72
Q

What percentage of neuroblastomas arise in the adrenal medulla

A

40%

73
Q

What stage describes a cancer that is a localized tumor with incomplete gross resection; respresentative ipsilateral nonadherent lymphnodes negative for tumor microscopically?

A

2A be familiar with the staging of morphology on pg 477

74
Q

What are the most important prognostic features of neuroblastomas

A

Age and Stage

1, 2A/B have good prognosis irrespective of age

Age 18 mo is critical point in prognosis change, younger excellent prognosis

75
Q

Which form of ploidy renders the best prognosis for neuroblastoma?

A

Hyperdiploid (whole chromosomal gains)

unfavorable is Near-Diploid

76
Q

If the MYCN gene is amplified in neuroblastoma, is the prognosis favorable or unfavorabe?

A

unfavorable

77
Q

Compare synchronous and metachronous

A

synchronous is when the cancer occurs at one time opposed to metachronous which is space out over 6 months… not sure about this one folks.

78
Q

What is the prevalence for wilms tumor?

A

1:10,000 children.

most common renal tumor of childhood.

79
Q

Describe the first group of Wilms tumor patients

A

WAGR syndrome

Wilms Tumor
Aniridia
genital anomalies
mental retardation

deletion 11p13

80
Q

Describe the second group of Wilms tumor patients

A

Denys-Drash syndrome: gonadal dysgenesis and early onset nephropathy.

dominant-negative missense mutation on Zn finger of WT1 protein

81
Q

Describe the third group of Wilms tumor patients

A

Beckwith-Wiedemann syndrome: organomegaly, macroglossia, hemihypertrophy, omphalocele,

11p15.5

82
Q

Describe the classic morphology of wilms tumor

A

triphasic combination of blestemal, stromal, and epithelial cell types is observed in the vast majority of lesions.

83
Q

Describe the clinical features and course of Wilms tumor

A

present with large abdominal mass

Hematuria

intestinal obstruction

most can be cured of their malignancy

Anaplastic histology is main prognosticator

MOD Exam 2 (3 decks)

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