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COM: MOD II - Midterm COPY > Chapter 10 > Flashcards

Chapter 10 Flashcards

1
Q

What are the most common microbes to cause congenital abnormalities during development?

A

TORCH

  • Toxoplasmosis
  • Other
  • Rubella
  • CMV
  • Herpes/HIV
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2
Q

What are the 4 most common causes of death in kids 5-9yo?

A
  • accidents
  • malignant tumors
  • congenital malformations, deformations and chromosomal abnormalities
  • assault (homicide)
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3
Q

What are congenital deformations?

A
  • localized or generalized compression of the growing fetus by abnormal biomechanical forces -> variety of structural abnormalities
  • always a mechanical event such as oligohydramnios which leads to renal agenesis**
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4
Q

What is the characteristic glomerular lesion associated with Denys-Drash syndrome?

A

Diffuse mesangial sclerosis

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5
Q

Galactosemia is an autosomal __________ disease in the metabolism of galactose that results in the accumulation of ________________

A

Recessive; galactose-1-phosphate

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6
Q

What percentage of congenital abnormalities is caused by multifactorial things?

A

20-25%

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7
Q

What is WAGR syndrome?

A

Wilms tumor
Anirdia
Genital anomalies
mental Retardation

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8
Q

What are the 4 most common causes of death in kids 10-14yo?

A
  • accidents
  • malignant neoplasms
  • intentional self harm (suicide)
  • assault (homicide)
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9
Q

Explain placental abnormalities as they relate to fetal growth restriction (FGR)

A
  • caused by umbilical-placental vascular anomalies, placental abruption, placenta previa, etc
  • placental causes of FGR tend to result in assymetric growth that spares the brain! **
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10
Q

In a neuroblastoma, Rosettes (homer-wright pseudorosettes) can be found in which the tumor cells are concentrically arranged about a central space filled with a ________

A

Neuropil

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11
Q

What are the characteristics of Beckwith-wiedemann syndrome (BWS)?

A

Organomegaly, wilms tumor, macroglossia, hemihypertrophy, omphalocele*, and abnormal. Large cells in the adrenal cortex (adrenal cytomegalovirus)

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12
Q

Explain what a congenital “malformation” is

A
  • intrinsic disturbance of development

- primary error in morphogenesis in which there is an intrinsically abnormal developmental process

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13
Q

What are the 4 most common causes of death in infants younger than 1yo?

A
  • congenital malformations, deformations, and chromosomal abnormalities
  • disorders related to short gestation and low birth weight (prematurity)
  • SIDS
    — Newborn affected by maternal complications of pregnancy
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14
Q

Each stage of development of the infant and child is prey to a somewhat different group of disorders. The data available permits a survey of 4 time spans, what are they?

A
  1. The neonatal period (first 4 weeks of life)
  2. Infancy (first year of life)
  3. Age 1 to 4 yo
  4. Age 5 to 14 yo
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15
Q

Explain the pathogenesis of galactosemia

A
  • G1P builds up in the liver, spleen, lens of eye, kidneys, heart muscle, cerebral cortex and RBCs
  • alternative metabolic pathways are activated to produce galactitol** and galactonate which buildup in the tissues
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16
Q

What is a congenital sequence?

A

A cascade of anomalies triggered by one initiating aberration

  • Ex. Potter sequence: initiating aberration is oligohydramnios, sx are flattened face, positional abnormalities of the hands and feet, dislocated hips and hypoplastic lungs
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17
Q

Explain fetal growth restriction (FGR)?

A
  • infants who are small for gestational age because of fetal factors typically have symmetric growth restriction -> all organs similarly affected**
  • cased by chromosomal disease, congenital anomalies and congenital infections
  • can also e due to microbes especially the TORCH group
  • These infants are below the 10th percentile for gestational age
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18
Q

40% of neuroblastomas arise in the adrenal medulla with the rest developing along the sympathetic chain, especially in the ______________ and ___________

A

Paravertebral region and posterior mediastinum

19
Q

What condition, which is one of the 4 most common causes of death in infants younger than 1 yr, has no explanation even after autopsy?

A

SIDS

20
Q

_________ fusion transcript is unique to congenital-infantile fibrosarcomas

A

ETV6-NTRK3

**This is diagnostic

21
Q

How does the glucose levels in a mother affect surfactant synthesis in the fetus?

A

Increased glucose levels in the mother lead to increased insulin levels in the fetus which inhibits synthesis of surfactant, leading to greater risk of respiratory distress syndrome

22
Q

What condition has a characteristic musty/mousy odor to the urine?

A

PKU

  • also see decreased pigmentation of skin/hair, seizures and eczema
23
Q

What does the malignant potential of teratomas correlate to?

A

The amount of immature tissues

24
Q

What surfactant proteins can be measured in amniocentesis?

A

SP-B, SP-C, and surfactant lipids

25
Q

Explain the classic triphhasic combination seen in wilms tumor

A
  • blastemal: small blue cells in sheets with few distinctive features
  • Stromal: usually fibrotic or myxoid in nature
  • epithelial: abortive tubules or glomeruli
26
Q

Explain the morphology of the salivary glands in pts with cystic fibrosis

A

Progressive dilation of ducts, squamous metaplasia of the lining epithelium, and glandular atrophy followed by fibrosis

27
Q

What are the 4 most common cases of death in kids 1-4yo?

A
  • accidents
  • congenital malformations, deformations, and chromosomal abnormalities
  • assault (homicide)
  • malignant neoplasms
28
Q

Individuals with mutated WT1 have increased risk of developing germ cell tumors called ______________

A

Gonadoblastomas

29
Q

One transplacental (hematologic) infection is parvovirus B19. Explain this virus

A
  • can induce spontaneous abortion, stillbirth, hydrops fetalis, and congenital anemia
  • has a particular tropism for erythroid cells**
  • diagnostic viral inclusions can be seen in early erythroid progenitors in infected infants
30
Q

What role does platelet activating factor (PAF) have in necrotizing entercolitis?

A

Increases mucosal permeability by promoting enterocyte apoptosis and compromising IC tight jnxs

31
Q

What are congenital “disruptions”?

A
  • secondary destruction of an organ or body region that was previously normal
  • amniotic bands are an example of this**
  • not inheritable and are not associated with risk of recurrence in subsequent pregnancies**
32
Q

In WAGR syndrome, WT1 deletion is more at risk for __________ and PAX6 mutations are more at risk for _________

A

Wilms tumor; aniridia (no iris)

33
Q

Explain the chromosomal abnormality associated with Beckwith-Wiedemann syndrome (BWS)

A
  • 11p15.5 (WT2) chromosome involved; normally expressed from one of the parent alleles, with imprinting on the other copy
  • BWS has served as the model for non-classical mechanism of tumorigenesis -> genomic imprinting
34
Q

What percentage of congenital abnormalities is caused by unknown things?

A

40-60%

35
Q

What are the top 5 most common childhood cancers?

A
  1. Leukemia
  2. Neuroblastoma
  3. Wilm’s tumor (nephroblastoma)
  4. Hepatoblastoma
  5. Retinoblastoma
36
Q

What is fetal hydrops?

A
  • accumulation of edema fluid in the fetus during intrauterine growth
37
Q

What is pneumatosis intestinalis and in what condition is this seen?

A
  • this is gas bubbles that look like golf balls in the colon**
  • seen in necrotizing enterocolitis
38
Q

T/F: sweat glands are morphologically unaffected in pts with CF

A

True

39
Q

______________ are the most common tumors of infancy

A

Hemangiomas

40
Q

_____________ teratomas are the most common teratomas of childhood

A

Sacrococcygeal

41
Q

___________ alone accounts for more deaths in children younger than age 15 than all of the other tumors combined

A

Leukemia

42
Q

The most frequent childhood cancers arise in the _____________ system, __________ and ___________ tissues, ________ and _________

A

Hematopoietic system, nervous and soft tissues, bone, and kidney

**this is in sharp contrast to adults in whom the skin, lung, breast, prostate and colon are the most common sites of tumors

43
Q

Amplification of the ______ oncogene in neuroblastomas is a molecular event that has possibly the most profound impact on prognosis

A

MYCN

**MYCN amplification is currently the most important genetic abnormality used in risk stratification of neurolastic tumors

44
Q

The peak incidence for Wilms tumor is between ____ and ___ years of age and 95% of tumors occur before the age of ____ years

A

2 and 5 years; before the age of 10 years

COM: MOD II - Midterm COPY (4 decks)

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