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MOD II > Chapter 10--Diseases of Infancy and Childhood > Flashcards

Chapter 10--Diseases of Infancy and Childhood Flashcards

1
Q

A morphologic defect present at birth

A

Congenital anomaly

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2
Q

What % of fertilization are so anomalous that they never develop into a viable conceptus?

A

20%

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3
Q

Complete absence of an organ and its associated primordium

A

Agenesis

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4
Q

Absence of an organ due to failure of the developmental anlage

A

Aplasia

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5
Q

Absence of an opening usually of a hollow visceral organ

A

Atresia

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6
Q

In the context of malformation, refers to abnormal cellular organization

A

Dysplasia

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7
Q

Enlargement of an organ associated with increased number in cells

A

Hyperplasia

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8
Q

Underdevelopment of an organ with decreased number of cells

A

Hypoplasia

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9
Q

Decreased organ size due to decreased cell size

A

Hypotrophy

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10
Q

Intrinsic disturbances in morphogenesis; typically multifactorial and not caused by single genetic defect

A

Malformation

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11
Q

Extrinsic disturbances in morphogenesis causing a secondary destruction of a previously developmentally normal tissue; NOT heritable!

A

Disruptions

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12
Q

Example of disruption

A

Amniotic band resulting from an amniotic rupture that causes fibrous stranding that encircles, compresses or attaches to a developing body part

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13
Q

Result from an external disturbance in morphogenesis. Caused by localized or generalized compression by abnomal mechanical forces and they manifest as abnormalities in shape, form or position (club feet)

A

Deformations

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14
Q

Most common underlying factor in deformations

A

Uterine constraint; first pregnancy, small uterus, leiomyomas

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15
Q

Constellation of anomalies resulting from one initiating aberration that leads to multiple secondary effects

A

Sequence

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16
Q

Classical example of a sequence

A

Potter sequence

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17
Q

What happens in potter sequence?

A

Oligohydramnios–decreased amniotic fluid–causes fetal compression with facial flattening, hand and foot malpositioning, hip dislocation, and chest compression with Hypoplasia

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18
Q

Combination of anomalies that cannot be explained on the basis of one initiating aberration and a subsequent cascade.

A

Syndrome

Most syndromes are caused by a single pathology that simultaneously affects several tissues (viral infection or chromosomal abnormality)

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19
Q

3 causes of developmental anomalies

A

Genetic causes
Environmental causes
Multifactorial causes

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20
Q

2 genetic causes of developmental anomalies

A

Chromosomal abnormalities

Single gene mutations

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21
Q

5 examples of chromosomal abnormalities that cause developmental anomalies?

A 
Trisomy 21 (Down Syndrome)
Klinefelter Syndrome (47 XXY)
Turner Syndrome (XO)
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwards syndrome)
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22
Q

How do single gene mutations cause developmental anomalies?

A

Loss of function genes that drive organogenesis or development; hedgehog genes

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23
Q

5 examples of environmental causes of developmental anomalies

A 
Viruses
Drugs and chemicals
Alcohol
Radiation
Maternal diabetes
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24
Q

Most common fetal viral infection? What does it result in?

A

Cytomegalovirus–mental retardation, microcephalic, deafness

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25
Q

What trimester is the highest risk period for cytomegalovirus infection?

A

Second trimester

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26
Q

What is congenital rubella syndrome?

A

A rubella infection (German measles/3 day measles) occurring before 16 weeks of gestation that can result in tetras of defects: cataracts heart defects deafness mental retardation

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27
Q

An agent or factor that causes a malformation in an embryo?

A

Teratogen

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28
Q

Examples of drugs and chemicals that act as environmental causes of developmental anomalies (5 examples)

A 
Thalidomide
Folate antagonists
Androgenic hormones
Anticonvulsants
13-CIS-retinoic acid
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29
Q

Most widely used Teratogen?

A

Alcohol

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30
Q

Structural anomalies, cognitive and behavioral deficits related to alcohol use in mother

A

Fetal alcohol spectrum disorders

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31
Q

Classic teratogenic phenotype that describes infants most severe affected by fetal alcohol spectrum disorders

A

Fetal alcohol syndrome

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32
Q

Teratogenic phenotype of fetal alcohol syndrome

A 
Growth retardation
Microcephaly 
Atrial septal defects
Short palpebral fissures (elliptic space bw medial and lateral can't hi of the two open eye lids)
Maxillary Hypoplasia
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33
Q

Large fetus caused by maternal diabetes is called?

A

Fetal macrosomia

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34
Q

Series of malformations occurring with maternal diabetes; hyperinsulinemia resulting in increased body fat, muscle mass and organometallic, cardiac anomalies neural tube defects and other CNS malformations

A

Fetal macrosomia

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35
Q

Interaction of environmental factors with mutated genes; independently they may have no or minimal effect

A

Multifactorial causes of developmental anomalies

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36
Q

Two examples of multifactorial causes of developmental anomalies

A

Congenital hip dislocation–shallow Acetabular socket (genetics) and a breech delivery (environment)

Neural tube defects–genetic predisposition (genetic) and low maternal folate (environmental)

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37
Q

Importance of timing and teratogenic insult

A

Timing of any teratogenic insult influences the nature and incidence of the anomaly produced–a given agent can have a significantly different outcome depending on when it is encountered

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38
Q

Embryonic period of development

A

First 8 weeks after fertilization

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39
Q

Teratogenic influence of the early (first 3 weeks) of the embryonic period

A

Either kills, so many cells die causing spontaneous abortion or limited numbers of cells are affected such that the fetus can recover without consequence

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40
Q

Fetal period of development

A

Weeks 9-36

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41
Q

Sensitivity to teratogens during the fetal period

A

Greatly reduced to teratogenic agents; the fetus is still susceptible to growth retardation

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42
Q

Do teratogens and genetic defects typically act on the same developmental pathways?

A

They can/do and will result in similar anomalies. Example: valproate embropathy–valproic acid (an anti-seizure medication) is teratogenic and disrupts the homeobox transcription factors. Homeobox gene mutations give rise to the same congenital anomalies

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43
Q

Most common cause of neonatal mortality

A

Congenital anomalies

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44
Q

Second most common cause of neonatal mortality

A

Prematurity

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45
Q

When does the greatest mortality of childhood occur?

A

In the first year and then declines progressively

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46
Q

When is a baby considered preterm?

A

Birth before 37

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47
Q

Birth before 42 weeks

A

POST-term

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48
Q

What are appropriate age and weight for gestation?

A

Between 10th and 90th percentile; below 10=small and above 90 is large

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49
Q

What are the major risk factors for prematurity? (4)

A

Preterm premature rupture of the placental membranes (PPROM)
Intrauterine infection
Uterine, cervical and placental structural abnormalities
Multiple gestational

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50
Q

What is PPROM?

A

Preterm premature rupture of the placental membrane

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51
Q

What is the most common cause of prematurity?

A

Preterm premature rupture of the placental membranes

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52
Q

What is the pathophysiology of PPROM?

A

Placental inflammation and matrix metalloproteinase activation

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53
Q

What is choroioamnionitis?

A

Inflammation of the placental membrane

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54
Q

What is funisitis?

A

Inflammation of the umbilical cord

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55
Q

Organisms associated with intrauterine infection and prematurity

A 
Urea plasma urealyticum
Mycoplasma hominids
Gardnerella vaginalis
Trichomonas
Gonorrhoea
Chlamydia
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56
Q

What are the 3 categories of causes for fetal growth restriction/intrauterine growth retardation?

A

Fetal
Placental
Maternal

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57
Q

Fetal causes of fetal growth restriction/intrauterine growth retardation

A

Despite adequate maternal nutritional supply, there is compromised fetal growth potential; typically there is symmetric growth restriction–all organ systems are proportionally affected

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58
Q

What are 3 fetal causes of fetal growth restriction/intrauterine growth retardation?

A 
Chromosomal abnormalities (trisomies)
Congenital anomalies
Congenital infections (TORCH)
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59
Q

What does TORCH stand for?

A 
Toxoplasmosis
Other
Rubella
Cytomegalovirus 
Herpes virus
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60
Q

Placental causes of fetal growth restriction/intrauterine growth retardation

A

Vigorous fetal growth in the 3rd trimester demands adequate placental growth and development; defects in placental supply typically cause asymmetric growth retardation, with relative sparing of the brain

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61
Q

What are 7 placental causes of fetal growth restriction/intrauterine growth retardation?

A
  1. Umbilical-placental vascular anomalies
  2. Placental abrupt ion-placenta separates from uterus
  3. Placenta Previn (low lying placenta)
  4. Placental thrombosis and infarction
  5. Placental infections
  6. Multiple gestations
  7. Placental mosaicism
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62
Q

What is placental mosaicism?

A

Genetic mutations arising after zygote formation lead to two genetic populations of cells within the placenta and/or fetus

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63
Q

What kind of fetal growth restriction/intrauterine growth retardation causes is the most common?

A

Maternal

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64
Q

What do maternal causes of fetal growth restriction/intrauterine growth retardation result in?

A

Decreased placental blood supply

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65
Q

What are the 7 maternal causes of fetal growth restriction/intrauterine growth retardation?

A 
Preeclampsia--high blood pressure and protein in urine 
Hypertension
Inherited thrombophilias
Malnutrition
Narcotic or alcohol
Intake
Cigarette smoking
Certain drugs (teratogens)
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66
Q

5 risks associated with prematurity? What complications are associated with prematurity?

A 
Hyaline membrane disease (neonatal respiratory distress syndrome)
Necrotizing enterocolitis
Sepsis
Intravenricular hemorrhage
Long term complications
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67
Q

Causes of neonatal respiratory distress?

A 
Respiratory distress syndrome
Maternal sedation
Blood or fluid aspiration
Fetal head injury 
Umbilical cord around neck
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68
Q

Most common cause of neonatal respiratory distress?

A

Respiratory distress syndrome (also known as hyaline membrane disease)

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69
Q

Incidence of neonatal RDS is 60% in infants born before 28 weeks of gestation and less than 5% of infants born after how many weeks gestation?

A

37 weeks

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70
Q

Key feature of respiratory distress syndrome

A

Inadequate pulmonary surfactant

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71
Q

Cell type that makes surfactant

A

Type II pneumocytes

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72
Q

Surfactant production by type II pneumocytes is highest at what week of gestation?

A

30? 35??

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73
Q

What is surfactant made of?

A

Phospholipids and glycoproteins

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74
Q

Decreased surfactant results in ___ alveolar surface tension, progressive alveolar _____ and increasing inspiratory pressures required to expand the ____

A

Increased
Atelectasis
Lung alveoli

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75
Q

RDS is associated with what damaging effects?

A 
Acidosis
Pulmonary vasoconstriction
Pulmonary hypoperfusion
Capillary endothelial and Alvolar epithelial damage
Plasma leakage into alveoli
76
Q

In neonatal RDS plasma proteins leak into the alveoli and combine with fibrin and necrotic Alvolar pneumocytes to form ____ that further impede gas exchange

A

Hyaline membrane

77
Q

How do corticosteroids reduce neonatal respiratory distress syndrome?

A

Induce surfactant lipid and apoprotein production

78
Q

Grossly what is seen in lungs of a neonatal RDS patient?

A

Lungs are solid, airless and reddish purple

79
Q

What can you see microscopically in patients with neonatal RDS?

A

Alveoli poorly developed and frequently collapsed; protein acess membranes line respiratory bronchioles, alveolar ducts and random alveoli

80
Q

Lung maturity in neonatal respiratory distress syndrome directly reflects the synthesis of what?

A

Surfactant synthesis

81
Q

What aspect of the amniotic fluid is measurable and reflects lung maturity in neonatal respiratory distress syndrome (surfactant synthesis?)

A

Lecithin/sphingomyelin ratio

82
Q

Necrotizing enterocolitis occurs most commonly in?

A

Premature infants; it is inversely proportional to gestational age

83
Q

What predisposing conditions can lead to necrotizing enterocolitis?

A

Bacterial colonization

Enteral feeding

84
Q

Etiology and perinatal mortality rate of NEC

A

Induction of inflammatory mediators in bowel (platelet activating factor production) promotes enerocyte apoptosis and increased intercellular permeability. This augments trans mural bacterial migration with a viscous cycle of inflammation and mucosal necrosis. Perinatal mortality is high

85
Q

NEC typically involves what areas of the bowel?

A

Terminal ileum, cecum, and right colon

86
Q

Microscopically what is seen in NEC

A

Mucosal to trans mural coagulative necrosis, ulceration, bacterial colonization and submucosal gas bubbles

87
Q

How are perinatal infections usually acquired?

A

Transcervically or transplacentally

88
Q

Transcervical route of perinatal infection

A

Ascending infection up and through the cervix

89
Q

Transplacentally route of perinatal infection

A

Transferred to fetus from mother through placenta; hematologic

90
Q

Most bacterial and a few viral perinatal infections occur via the ____ route

A

Cervicovaginal; transcervical (ascending route)

91
Q

How does the fetus usually become infected in a transcervical (ascending) infection?

A

Inhaling infected amniotic fluid into lungs during parturition, it passes through an infected birth canal

92
Q

If there is a transcervical (ascending) infection, what diseases will also be present? What often is the result of a transcervical ascending infection

A

Choroioamnitis and funisitis

Preterm birth

93
Q

Most common sequelae of a transcervical (ascending) infection

A

Preterm birth

94
Q

What are the most common sequelae of a transcervical (ascending) infection

A

Pneumonia, sepsis, and meningitis

95
Q

How do most transplacental (hematologic) infections enter the fetal bloodstream?

A

Via the chorionic villi

96
Q

Sequelae of transplacental (hematologic) infection are commonly the same regardless of when it occurs. T/F?

A

False–depends highly on the timing and the organism

97
Q

Do all TORCH infections have similar manifestations?

A

Yes

98
Q

Manifestations of TORCH infections

A 
Fever
Encephalitis
Chorioetnitis
Hepatosplenomegaly
Pneumonitis
Myocarditis
Hemolytic anemia
Skin lesions (vesicular hemorrhagic)
99
Q

Long term sequela of TORCH infection

A 
Growth retardation
Mental retardation
Cataracts
Congenital cardiac anomalies
Bone defects
100
Q

Early-onset (during the first 7 days of life) sepsis is most commonly due to _______, acquired at or shortly before birth

A

Group B streptococcus

101
Q

Late-onset (up to 3 months) sepsis is often due to _____ or _____

A

Listeria, candida

102
Q

What is fetal hydrops?

A

Fetal edema fluid collection during intrauterine growth

103
Q

Severe and generalized fluid collection in fetus is referred to as what?

A

Hydrops fetalis

104
Q

Postnuchal fluid accumulation in fetus

A

Cystic hyngroma

105
Q

Hemolytic disorder caused by blood group incompatibility between mother and fetus

A

Immune hydrops

106
Q

Underlying basis of disease in immune hydrops

A

Immunizations of the mother by antigens present on fetal erythrocytes, followed by free passage of maternal antibodies across the placenta and into fetus; these abs bind to erythrocytes and mediate complement dependent lysis and/or phagocytosis by Fc receptor bearing cells; results in fetal red cell hemolysis

107
Q

What are the most important molecules on erythrocytes that are associated with immune hydrops?

A

RhD and ABO blood group antigens

108
Q

What is the major sequela of immune hydrops?

A

Anemia

109
Q

In immune hydrops, _____ develops because hemolysis of RBCs and produces unconjugated bilirubin; this passes across the poorly developed fetal blood-brain barrier and causes CNS injury (_____)

A

Jaundice, kernicterus

110
Q

Major causes of non-immune hydrops

A 
Cardiovascular defects
Chromosomal anomalies (Turner syndrome, trisomies 18 & 21)
Fetal anemia unrelated to immune hemolysis
111
Q

In fetal anemia, what two things are pale?

A

Fetus and placenta

112
Q

What is erythroblastosis fetalis?

A

Bone marrow exhibits compensatory erythroid hyperplasia and (could be in the setting–immune hydrops fetalis/anemia) multiple organs exhibit extra medullary hematopoiesis; increased hematopoiesis deposits large numbers of immature RBCs in peripheral. Blood (erythroblastosis fetalis)

113
Q

3 inborn errors of metabolism and genetic disorders

A

PKU
Galacotemia
Cystic fibrosis

114
Q

Role of phenylalanine hydroxylase (PAH) in phenylketonuria

A

PAH is an enzyme that irreversibly converts phenylalanine to tyrosine; in this autosomal recessive disease, most commonly there is a bi allelic mutation of the gene encoding PAH resulting in the accumulation of phenylalanine and brain damage

115
Q

What is the enzyme that undergoes biallelic mutations in phenylketonuria?

A

Phenylalanine hydroxylase

116
Q

Intestinal mucosal lactase converts lactose into glucose and ____

A

Galactose

117
Q

One Name the disorder: one of the enzymes that metabolizes galactose undergoes a genetic mutation and results in the accumulation of varying toxic metabolites of galactose

A

Galactosemia

118
Q

In the most common and clinically significant form of Galactosemia there is an autosomal recessive mutation in what enzyme?

A

Galactose-1-phosphate accumulated levels of galatitol and galactonate

119
Q

Most common lethal genetic disease affecting Caucasian populations in the US

A

Cystic fibrosis

120
Q

Autosomal recessive disorder that affects epithelial cell ion transport and causes abnormal fluid secretion in exocrine glands, respiratory GI and reproductive mucosa

A

Cystic fibrosis

121
Q

Gene mutated in cystic fibrosis encodes what protein?

A

Cystic fibrosis transmembrane conductance regulator (CFTR) protein

122
Q

CFTR protein in cystic fibrosis only effects the sodium channel. T/F

A

False it regulates many ion channels and cellular process

123
Q

What epithelial sodium channel is most greatly effected in CF by the CFTR protein?

A

ENaC channel

124
Q

Role of the ENaC

A

ENaC is an apical membrane protein in exocrine epithelium that is responsible for sodium transport

125
Q

Describe the role of CFTR in eccrine glands, and the disease state in CF

A

In eccrine sweat duct epithelium, normal CFTR augments ENAc activity. In CF, augmented activity is lost, resulting in hypertonic sweat

126
Q

Role of CFTR in respiratory and intestinal epithelium and in the disease state of CF

A

Normal CFTR inhibits ENaC activity. In CF, augmented (increased) ENaC activity increases sodium movement into cells; coupled with reduced luminal chloride, there is increased osmotic water resorption from the lumen, leading to dehydration of mucus secretions. Defective mucociliary action and the accumulation of hyper concentrated viscous secretions ultimately obstruct ductascending outflow from the organs=mucoviscidosis

127
Q

CFTR mediates bicarbonate transport; CFTR is co-expressed with a family of anion exchangers called what?

A

SLC26

128
Q

In the setting of some CFTR mutations associated with bicarbonate transport, ___ fluids are secreted leading to an ___ environment that causes mucin precipitation and duct obstruction

A

Acidic

129
Q

What is the most common CFTR gene mutation (70% worldwide)?

A

A three nucleotide deletion for phenylalanine at position 508 (F508)

130
Q

How does CF affect the pancreas?

A

Mucus accumulation in small ducts with mild dilation to total atrophy of exocrine pancreas; impairment of fat absorption and avitaminosis A and duct all squamous metaplasia

131
Q

How does CF affect the intestines?

A

Thick viscous plugs of mucus (meconium ileum) can cause small bowel obstruction

132
Q

Thick viscous plugs of mucous can cause small bowel obstruction in CF. What are these called?

A

Meconium ileus

133
Q

How can CF affect the liver and what it results in

A

Bile canalicular plugging by mucinous material that results in diffuse hepatic cirrhosis

134
Q

How CF affects salivary glands

A

Similar to pancreas–progressive dilation of ducts, duct all squamous metaplasia and glandular atrophy

135
Q

Which organ results in the most serious complications in CF? How?

A

Lungs–mucus cell hyperplasia and viscous secretions block and dilate bronchioles. Superimposed infections and pulmonary abscesses are common

136
Q

Which microbes are most commonly associated with lung infections in CF?

A

Staphylococcus aureus
Haemophilus influenzae
Pseudomonas aeruginosa

137
Q

Which microbe is associated with fulminant (coming on suddenly with great severity including death) onset in CF?

A

Burkholderia cepacia

138
Q

How does CF affect the male genital tract?

A

Azoospermia and infertility occur in 95% of male patients surviving into adulthood, frequently with congenital absence of the vas deferens

139
Q

What are the most common causes of death in CF?

A

Cardiorespiratory complications: chronic cough, persistent lung infections, obstructive pulmonary disease, cor pulmunale

140
Q

Definition of SIDS

A

Sudden death of infant less than 1 yr of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of death scene, and a review of clinical history

141
Q

SIDS is a diagnosis of ____ and a disease of unknown cause

A

Exclusion

142
Q

When and in what position do infants usually die in SIDS?

A

Infants usually die while asleep, mostly in the prone or side position. Most SIDS deaths occur bw 2 and 4 months of life; 90% occur within 6 months of birth

143
Q

Leading cause of death in children between 1 month and 1 year of age and the 3rd leading cause of infant death overall

A

SIDS

144
Q

Hypothesis of SIDS

A

Developmental immaturity of critical brain stem regions (arcuate nucleus) involved in arousal and cardio respiratory control and that environmental influences (infection) further fatally impair these regulatory mechanisms

145
Q

Parental risk factors for SIDS

A 
Young maternal age
Short gestational interval
Inadequate prenatal care
Low socioeconomic status
Maternal smoking or drug abuse
146
Q

Infant risk factors in SIDS?

A

Low birth weight
SIDS in a prior sibling (suggests a genetic component)
Male gender

147
Q

What are some environmental risk factors in SIDS?

A

Sleeping prone
Hyperthermia
Sleeping on soft surface

148
Q

Leading cause of death (after accidents) in US children bw ages 4 and 14

A

Cancers

149
Q

What % of all cancers occur in infancy and childhood?

A

2%

150
Q

What is more common in infancy and childhood? Benign or malignant tumors?

A

Benign

151
Q

Another name for heterotopia/choristoma?

A

Microscopically normal cells or tissue present in abnormal locations; are usually of little clinical significance but can be the origin of true neoplasms

152
Q

Example of heterotopia/choristoma

A

pancreatic tissue in the wall of the stomach

153
Q

Excessive but focal overgrowth of mature cells or tissue native to organ or site in which they occur that do not recapitulate normal architecture. Are histologically benign but can be clinically signficant

A

Hemartomas

154
Q

4 benign tumors and tumors like lesions of infancy and childhood

A

Hemangiomas
Lymphatic tumors
Fibrous tumors
Teratomas

155
Q

Most common tumors of infancy

A

Hemangiomas

156
Q

Where do Hemangiomas occur?

A

Face and scalp

157
Q

Hemangioma may represent one facet of hereditary disorders such as _____

A

Von Hippel-Lindau disease

158
Q

_____ are composed of cystic and cavernous lymphatic spaces, with variable numbers of associated lymphocytes

A

Lymphatic tumors

159
Q

____ range from sparsely cellular proliferation a to richly cellular lesions indistinguishable from adult fibrosarcomas

A

Fibrous tumors

160
Q

Congenital infantile fibrosarcomas has an ____ prognosis

A

Excellent

161
Q

When are two peaks for Teratoma incidence?

A

At age 2 and in late adolescence

162
Q

40% of teratomas occurring in infancy and childhood occur where?

A

Sacrococcygeal region

163
Q

What % of teratomas are benign and mature?

A

75%

164
Q

What is the most frequent childhood cancer of the hematopoietic system?

A

Acute lymphoblastic leukemia (ALL)

165
Q

Most frequent childhood cancers of the CNS

A

Astrocytoma
Medulloblastoma
Ependymoma

166
Q

Most frequent childhood cancer of the adrenal medulla

A

Neuroblastoma

167
Q

Most frequent childhood cancer of the retina

A

Retinoblastoma

168
Q

Most frequent childhood cancer of soft tissue

A

Rhabdomyosarcoma

169
Q

Most frequent childhood cancers of the bone

A

Ewing sarcoma

Osteogenic sarcoma

170
Q

Most frequent childhood cancer of the kidney

A

Wilms tumor

171
Q

What accounts for more deaths in children younger than 15 years than all other tumors?

A

Leukemia

172
Q

Many pediatric cancers tend to have a more primitive ____ rather than a frankly anaplastic histology, with features of organogenesis consistent with the site of origin

A

Embryonal

173
Q

Tumors with a more primitive embryo all rather than a frankly anaplastic histology with features of organogenesis consistent with site of origin are collectively labeled as?

A

Small round blue cell tumors

174
Q

7 tumors that fall under the category of small round blue cell tumors

A 
Lymphoma
Wilms tumor
Rhabdomyosarcoma
Ewing sarcoma/ peripheral neuroectodermal tumor (PNET)
Neuroblastoma
Medulloblastoma
Retinoblastoma
175
Q

Where do Neuroblastoma tumors arise?

A

Adrenal medulla or sympathetic ganglia

176
Q

What is the most common Neuroblastic tumor?

A

Neuroblastoma

177
Q

1-2% of Neuroblastic tumors are familial associated with what enzyme mutations?

A

Anaplastic lymphoma kinase (ALK)

178
Q

40% of Neuroblastoma occur where?

A

Adrenal medulla

179
Q

Tumor characterized by sheets of small round blue Neuroblastoma within a neurofibrillay background and characteristic Homer-wright pseudo rosettes

A

Neuroblastoma

180
Q

Wilms tumors are presumed to be related with Germaine mutations and are associated with malformation syndromes all involving what chromosome?

A

11p

181
Q

When is Wilms tumor usually diagnosed? Is it malignant? Survival rate?

A

Usually diagnoses between ages 2 and 5, is malignant but has overall survival rate of more than 90%

182
Q

Syndrome associated with a associated deletion on chromosome 11p band 13 and patients have aniridia (absence of Iris), genital anomolies, mental retardation and a 33% chance of developing a Wilms tumor

A

WAGR syndrome: Wilms tumor, Aniridia, Genital anomolies, Retardation (mental)

183
Q

Syndrome in which patients have gonadal dysgenesis and nephropathy leading to renal failure; 90% develop Wilms tumors

A

Denys-Drash syndrome

184
Q

Syndrome in which patients have enlarged body organs, hemilhypertrophy, adrenal cytomegaly, and a predisposition to developing Wilms and other primitive tumors

A

Beckwith-Wiedermann syndrome

185
Q

Wilms tumors are soft, large, well circumscribed renal masses characterized by what triphasic features?

A

Blastema
Immature stroma
Tubules

(Trying to recapitulate nephrogenesis)

186
Q

Identifying rests on a unilateral Wilms tumor resection mandates watchful waiting for a malignancy on the ____ side; nephrogenic rests are putative precursor lesions to Wilms tumors are are seen in renal parenchyma adjacent to 40% of unilateral lesions; the frequency rises to nearly 100% in bilateral Wilms tumors

A

Contralateral

187
Q

Patient presentation of Wilms tumor:

A

Large abdominal masses; hematuria, pain, hypertension, bowel obstruction

MOD II (3 decks)

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