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Path 2 exam 2 > Genetics and Pediatric Pathology - Gomez > Flashcards

Genetics and Pediatric Pathology - Gomez Flashcards

1
Q

What is the most common cause of death in the first year of life, particularly the first year?

A

congenital anomalies

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2
Q

What is the most common congenital anomaly?

A

bicuspid aortic valve

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3
Q

The most severe congenital anomalies can cause what?

A

intrauterine death

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4
Q

Malformations

A

primary failure; intrinsically abnormal development; abnormal morphogenesis
ex. anacephaly, congenital heart defects

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5
Q

Disruptions

A

secondary destruction of previously normal structure (extrinsic disruption of normal morphogenesis) ie amniotic banding

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6
Q

Deformations

A

extrinsic disturbance of development from abnormal biomechanical forces leading to structural abnormalities
ie oligohydramnios

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7
Q

Sequence

A

a patter of cascade anomalies set off by one initiating aberration

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8
Q

Potter’s Sequence

A

no hole in the urethera leads to decreased amniotic fluid leads to fetal compression and flattened facial features, club feet, amnion nodosum, breech presenation at delivery

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9
Q

Malformation Syndrome

A

constellation of congenital anomalies that are pathologically related and CANNOT be related to a single initiating event

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10
Q

Cleft lip and palate associated with which malformation syndrome?

A

severe cardiac defects

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11
Q

TORCH infections

A

Toxoplasmosis, other (HIV, syphillus), rubella, CMV, HSV

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12
Q

Pt presents with chorioretinitis, cataracts, conjunctivitis, microcephaly, focal cerebral calcification, microphthalmia, pneumonitis, heart disease, splenomegaly, petechiae and purpura, and hepatomegaly and jaundice

A

TORCH complex

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13
Q

complete absence of an organ and primordium

A

agenesis

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14
Q

complete absence of an organ due to primordium development failure ie streak gonads

A

aplasia

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15
Q

absence of opening usually in hallow organ

A

atresia

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16
Q

omphalocele and gastroschisis are examples of _____

A

dysplasia

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17
Q

abdominal musculature fails to form, organs are outside body in sac

A

omphalocele

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18
Q

part of the abdominal wall fails to form

A

gastroschisis

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19
Q

dysplasia of diaphragm leads to

A

diaphragmatic hernia

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20
Q

What is the worst time to be exposed to a teratogen?

A

During the embryonic periods (3-9wks), worst time is weeks 4-5, all organs are being formed in this period

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21
Q

environmental teratogens that cause disruptions/malformations

A

viral infections, drugs and chemicals, maternal diabetes, radiation

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22
Q

with exposure at less than 6 weeks will get

A

ventral septal defect of heart

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23
Q

What causes the tetrad of cataracts, deafness, heart defects, and mental retardation?

A

Rubella particularly in first 16 weeks.

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24
Q

Presents with microcephaly, mental retardation, deafness, and hepatosplenomegaly. CNS involvement major feature

A

CMV

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25
Q

What is the timing of CMV infection?

A

2nd trimester

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26
Q

disrupts limb bud formation by promoting BMP signaling and suppresses Wnt/beta catenin and Akt dependent survival signaling

A

Thalamide

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27
Q

disrupts HOX genes

A

valproic acid (anti epileptics)

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28
Q

growth retardation, microcephaly, atrial septal defect, short palpebral fissures, maxillary hypoplasia

A

Fetal alcohol syndrome

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29
Q

affects retinoic acid and Hedgehog signaling pathways

A

Fetal alcohol syndrome

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30
Q

What is the most common cause of neonatal retardation?

A

fetal alcohol syndrome

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31
Q

HOXD13 gain mutations induce ____

A

syndactyly/polydactyly

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32
Q

HOXA13 mutations cause

A

hand foot genital syndrome (distal limb and distal urinary tract malformations)

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33
Q

sodium valproate

A

anticonvulsant that disrupts HOX gene expression with craniofacial defects

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34
Q 
retinoic acid (vit A)
isotretinoin
A

disrupts HOX gene expression causing retenoic acid embryopathy (CNS, cardiac and craniofacial defects)

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35
Q

What do PAX genes code for?

A

DNA binding proteins

act as proto oncogenes, over expression related to several tumors

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36
Q

PAX2

A

renal-coloboma syndrome (developmental defects of kidneys, eyes, ears, and brain)

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37
Q

PAX3

A

Waardenburg syndrome (congenital pigment abnormalitie s and deafness)

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38
Q

PAX6

A

Aniridia (congenital absence of the iris)

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39
Q

What do HOX genes code for?

A

limb, vertebra and craniofacial development

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40
Q

Trisomy 21

A

Down’s syndrome

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41
Q

47XXY

A

Kleinfelter

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42
Q

45X

A

Turner syndrome

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43
Q

Trisomy 13

A

Patau

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44
Q

Robertsonian translocation

A

DNA is balanced in the parent, have all the right genes. 1 Chromosome with double dose and 1 with nothing. 2 copies of 1 gene but on 1 chromosome

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45
Q

When do most karyotypic aberrations occur?

A

during Gametogenesis

46
Q

Pt with microcephaly, mental retardation, cleft lip and palate, renal defects, rocker-bottom feet, umiblical hernia, cardiac defects, polydactyly and microphthalma has what disorder?

A

trisomy 13

47
Q

Pt with mental retardation, abundant neck skin, epicanthic fold and flat facial profile, congenital heart defect, intestinal stenosis, umbilical hernia, hyptonia, gap b/w first and second toe, prone to leukemia.

A

trisomy 21

48
Q

holoprosencephaly is due to what?

A

sonic hedgehog gene mutation

49
Q

synpolydactyly due to what

A

GLI3 gene mutation (downstream target of sonic hedgehog signaling)

50
Q

APGAR

A

appearance, pulse, grimace, activity, respiration

51
Q

what defines a pre term baby?

A

before 37 weeks gestation

52
Q

what defines a post term baby?

A

after 42 weeks gestation

53
Q

What is the second leading cause of neonatal mortality behind congenital anomalies?

A

prematurity

54
Q

If baby has symmetric FGR problem is related to _____

A

the fetus

55
Q

If baby has asymmetric FGR (head larger than body) problem is related to ___

A

mom or placenta

56
Q

Describe the different presentations of trisomy 7

A

if in placenta and fetus = in compatible with life

if just in placenta = SGA fetus

57
Q

What is the most frequent cause of FGR?

A

maternal (HTN, hypercoagulable state, malnutrition)

58
Q

Describe retrolental fibroplasia

A

Phase I: O2 therapy and hyperoxia -> dec VEGF -> endothelial cell apoptosis
Phase II: relative hypoxia (RA) -> inc VEGF -> angiogenesis (neovascularization) –> retinopathy

59
Q

neonatal respiratory distress is also known as what?

A

hyaline membrane disease

60
Q

Neonatal respiratory distress is due to what

A

deficiency of pulmonary surfactant

61
Q

What cell type is responsible for secreting surfactant?

A

Type II pneumocytes

62
Q

When are fetus capable of producing surfactant?

A

35 weeks

63
Q

What are the main components of surfactant?

A

lecithin
phosphatidylglycerol
hydrophylic SP-A and SP-D (immunity)
hydrophobic SP-B and SP-C (surface tension)

64
Q

What is the L/S ratio?

A

> 2 baby can breath on own

65
Q

What induces surfactant secretion?
What inhibits secretion of surfactant?
What induces surfactant synthesis?

A

Glucocorticoids (stress) and thyroxine
insulin
labor

66
Q

Describe bronchopulmonary dysplasia

A

alveolar hypoplasia and wall thickening

ventilation can lead to scarring

67
Q

Describe necrotizing enterocolitis (NEC)

A

first feeding, bacteria go crazy, leads to lots of gas, inflammation, and mucosal breakdown (apoptosis/platelet activating factor), leads to dead bowel needs sx

68
Q

Early onset of symptoms 0-7 days s/p birth with PNA, sepsis, meningitis

A

Group B strep

69
Q

Late onset of symptoms 7-90 days s/p birth

A

Listeria, Candida

70
Q

What type of fetal hydrops is associated with chromosomal abberation 45X?

A

cystic hygroma associated with Turner Syndrome

71
Q

Immune hydrops is mostly due to what?

A

classic Rh incombatibility

72
Q

What disease has intranuclear inclusions in erythroblasts in bone marrow?

A

Parvovirus B19

73
Q

What type is accumulating in Kernicterus?

Where does it accumulate?

A

unconjugated hyperbilirubinemia

basal ganglia, thalamus, and cerebellum

74
Q

self mutilation

A

Lesch-Nyham Syndrome

75
Q

sweaty feet odor

A

isovaleric acidemia

76
Q

mousy/musty odor

A

PKU

77
Q

maple syrup

A

maple syrup disease

78
Q

cataract

A

galactosemia

79
Q

Cherry red macula

A

Tay-Sachs, GM1

80
Q

Dislocated lens

A

Homocysteinuria

81
Q

Pt presents with weight loss, muscle and fat atrophy, normal protein levels, anemia

A

Marasmus

82
Q

Pt presents with wt loss, low serum protein level, normal %muscle and fat, generalized edema, anemia, easily pluckable hair

A

Kwashiorkor

83
Q

heterotopia/choristoma

A

normal tissue in wrong place

84
Q

hamartoma

A

overdevelopment of tissue normally present

85
Q

benign tumor, has blood flowing in it, will resolve on own

A

hemangioma

86
Q

has WBC + fluid flowing in it and won’t regress on own

A

lymphangioma

87
Q

Explain the processes of developing congenital infantile fibrosarcoma

A

chromosomal translocation t(12;15)(p13;q25)

ETV6-NTKR3 fusion transcript making tyrosine kinase stimulating RAS and PI3K/AKT oncogenic pathways

88
Q

Most common malignancy in 0-4 yo age group

A

Leukemia

89
Q

most common maliganncy in

A

Neuroblastoma

90
Q

small round blue cell tumors

A

-blastoma

91
Q

genetic marker N-myc amplification

A

neuroblastoma

92
Q

11p13

A

Wilms tumor

93
Q

t(8;14)

A

Burkitt lymphoma

94
Q

PAX3-FKHR

PAX7-FKHR

A

Rhabdomyosarcom

95
Q

t(11;12)

A

Ewing Sarcoma

96
Q

13q14

A

retinoblastoma

97
Q

increased urinary catecholamine

A

neuroblastoma

98
Q

most common location for neuroblastoma

A

adrenal medulla

99
Q

NB pt have what elevated in their urine?

A

VMA and HVA

100
Q

small blue cell tumor with Homer-Wright pseudorossettes

A

NB; neuroendocrine marker

101
Q

prescence of Schwann cells and ganglion cells

A

Gangioneuroma

102
Q

blueberry muffin baby

A

neuroblastoma cutaneous metastases

103
Q

Stage 4S

A

localized primary tumor with dissemination to skin, liver, bone marrow; limited to infants younger than 1 year

104
Q

germline RB1 gene mutation

A

familial retinoblastoma

105
Q

somatic RB1 gene mutation

A

sporadic retinoblastoma

106
Q

most common malignant eye tumor of childhood

A

retinoblastoma

107
Q

small blue cells and Flexner-Winersteiner Rosettes

A

retinoblastoma

108
Q

stromal, epithelial tubules, blastemal elements

A

Wilm’s tumor

109
Q

WT1/11p13 mutation

A

Wilm’s tumor

110
Q

number 1 renal tumor in kids

A

Wilm’s tumor

Path 2 exam 2 (6 decks)

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