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Diseases of Infancy and Childhood Flashcards

1
Q

What is a common cause of Oligohydramnios (Potter) sequence?

A

Decreased fetal renal blood flow leading to decreased urine production

(Less fluid volume than expected for fetal age)

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2
Q

What is the cause of Polyhydramnios Sequence?

A
  • Decreased fetal swallowing
  • Increased fetal urination
  • (amniotic fluid volume greater than expected
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3
Q

What is the treatment for polyhydramnios?

A
  • Physical reduction
  • Prostaglandin synthetase inhibitors
    • indomethacin
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4
Q

What are the long-term effects of congenital rubella syndrome?

A
  • Hearing loss
  • Cataract formation
  • Retardation (growth and mental)
  • Congenital heart disease
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5
Q

Infant presents at birth with jaundice, hepatosplenomegaly, and anemia. What is the disease?

A

Cytomegalic inclusion disease

CMV

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6
Q

Two month old infant presents with notched central incisors, interstitial keratitis with blindness, and deafness. What is the disease? What is this triad called? What is the cause?

A

Late congenital syphilis

Hutchinson triad

Treponema pallidum

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7
Q

What can be caused by radiation exposure during organogenesis?

A

Blindness

Spina bifida

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8
Q

What are some long term effects of maternal hyperglycemia- induced hyperinsulinemia on the infant?

A

Cardiac anomalies

Neural tube defects

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9
Q

When is a fetus most susceptible to teratogens?

A

3rd-9th weeks

(organogenesis)

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10
Q

What virus causes fetal hydrops?

A

Parvovirus B19

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11
Q

What are the defects resulting from retinoic acid embryopathy? What is the cause?

A
  • Defects:
    • CNS
    • Cardiac
    • Craniofacial
  • Cause:
    • Retinoid acid changes HOX gene expression
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12
Q

What is the function of HOX genes?

A

Patterning of limbs, vertebrae, and craniofacial structures

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13
Q

What is considered a preterm birth?

A

before 37 weeks

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14
Q

What is considered a post-term birth?

A

after 42 weeks

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15
Q

Organisms associated with intrauterine infection are:

A
  1. Ureaplasma
  2. Mycoplasma
  3. Trichomonas
  4. Neisseria gonorrhoeae
  5. Chlamydia trachomatis

Induce labor by:

  • Release collagenases/ elastases
    • membrane rupture
  • Release prostaglandins
    • stimulate contractions
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16
Q

What is the cause of proportionate fetal growth restriction (FGR)? Of disproportionate FGR?

A
  • Proportionate:
    • fetal factors
  • Disproportionate
    • Placental factors
    • Multiple gestation
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17
Q

What is Caput succedaneum?

A

accumulation of interstitial fluid in the soft tissues of the scalp

(where head began to enter uterine canal)

18
Q

What is a cephalhematoma?

A

Subperiosteal collection of blood

(birth injury)

19
Q

How is lung maturity assessed in the fetus?

A

analyzing amniotic fluid phospholipids

20
Q

What is used to induce surfactant production in the newborn?

A

corticosterioids

21
Q

What are the complications of prolonged oxygen therapy on infants (oxygen toxicity)?

A
  • Retrolental fibroplasia (retinopathy)
    • neovascularization (increased VEGF) of retina
    • detachment and blindness may result
  • Bronchopulmonary dysplasia
    • decrease in the number of alveoli
22
Q

Newborn presents with bloody diarrhea and abdominal distention. Abdominal radiographs show gas within the intestinal wall. What is the disease? With what is it associated?

A
  • Disease: Necrotizing enterocolitis
  • Low birthweight premature infants
23
Q

What is hydrops fetalis?

A

Generalized accumulation of edema fluid

Lethal

24
Q

What are the causes of nonimmune hydrops?

A
  • CV malformations
  • Chromosomal abnormality
    • Turner Syndrome
    • Trisomies 21 and 18
  • Fetal anemia
25
Erythroblastosis Fetalis can cause what type of hydrops?
Immune hydrops
26
Which virus can cause nonimmune hydrops? What is the path?
Parvovirus B19 * Path: * replicates in erythroid precursors * arrests maturation * peripheral rim of residual chromatin around nucleus * aplastic anemia
27
Infant presents with a strong musty odor, seizures, decreased pigmentation of hair and skin, and mental retardation. What is the disease?
Phenylketonuria * Phenylalanine hydroxylase deficiency
28
Infant presents with hepatomegaly, cataracts, CNS manifestations, and aminoaciduria. What is the disease? What is the cause?
Galactosemia * Cause: deficiency in gal-1-P uridyl transferase or galactokinase
29
What is meconium ileus? With what condition is it associated?
* Obstruction of the small intestine from thick plugs of mucus * Associated with cystic fibrosis in infants
30
What causes male infertility in CF patients?
Bilateral loss of the vas deferens
31
What is the pahogenesis of SIDS?
medullary 5-HT dysfunction Hypoplasia of the arcuate nucleus
32
What are choristomas?
aggregations of normal cells in an abnormal location usually no clinical significance
33
What are hamartomas?
Focal overgrowth of cells and tissues native to the organ in which it occurs benign
34
What are teratomas? What is the most common type?
Germ cell tumor Most common: sacococcygeal
35
Elevated blood levels of catecholamines signals which type of cancer?
Neuroblastoma | (normally occurs in adrenal glands)
36
Where does neuroblastoma normally arise?
Adrenal gland
37
On biopsy of a neoplasm, small blue cells arranged in rosettes (Homer-Wright pseudorosettes) are seen. What is the neoplams?
Neuroblastoma
38
What is the outcome of neuroblastoma patients associated with the following: 1. Hyper-diploidy 2. Near-triploidy 3. Diploidy or near-diploidy 4. near-tetraploidy 5. N-myc gene amplification
* Hyper-diploidy (incomplete set) * good * Near-triploidy * good * Diploidy or near-diploidy * bad * near-tetraploidy * bad * N-myc gene amplification * worse with more copies present
39
Patient presents with poor vision, strabismus, and a whitish hue to the pupil. Biopsy of the neoplasm shows clusters of cells arranged around a central lumen (Flexner-Wintersteiner rosettes). What is the disease?
Retinoblastoma
40
Patient presents with large abdominal mass, hematuria, abdominal pain, and intestinal obstruction. What type of neoplasm could be the cause?
Wilm's tumor * Tumor of the kidney * Precursor lesions: nephrogenic rests * Histology: * combination of blastemal, stromal, and epithelial cell types
41
Patient presents with a painful, enlarging mass of the leg. The area is warm and swollen. This could be the result of which type of cancer? What is the genetic cause?
Ewing's sarcoma * Cause: t (11; 22) of FL-1 near EWS gene * Bone cancer

Pathology (27 decks)

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