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

Genetics and Pediatric Pathology - Gomez Flashcards

(110 cards)

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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
What is the timing of CMV infection?
2nd trimester
26
disrupts limb bud formation by promoting BMP signaling and suppresses Wnt/beta catenin and Akt dependent survival signaling
Thalamide
27
disrupts HOX genes
valproic acid (anti epileptics)
28
growth retardation, microcephaly, atrial septal defect, short palpebral fissures, maxillary hypoplasia
Fetal alcohol syndrome
29
affects retinoic acid and Hedgehog signaling pathways
Fetal alcohol syndrome
30
What is the most common cause of neonatal retardation?
fetal alcohol syndrome
31
HOXD13 gain mutations induce ____
syndactyly/polydactyly
32
HOXA13 mutations cause
hand foot genital syndrome (distal limb and distal urinary tract malformations)
33
sodium valproate
anticonvulsant that disrupts HOX gene expression with craniofacial defects
34
``` retinoic acid (vit A) isotretinoin ```
disrupts HOX gene expression causing retenoic acid embryopathy (CNS, cardiac and craniofacial defects)
35
What do PAX genes code for?
DNA binding proteins | act as proto oncogenes, over expression related to several tumors
36
PAX2
renal-coloboma syndrome (developmental defects of kidneys, eyes, ears, and brain)
37
PAX3
Waardenburg syndrome (congenital pigment abnormalitie s and deafness)
38
PAX6
Aniridia (congenital absence of the iris)
39
What do HOX genes code for?
limb, vertebra and craniofacial development
40
Trisomy 21
Down's syndrome
41
47XXY
Kleinfelter
42
45X
Turner syndrome
43
Trisomy 13
Patau
44
Robertsonian translocation
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
45
When do most karyotypic aberrations occur?
during Gametogenesis
46
Pt with microcephaly, mental retardation, cleft lip and palate, renal defects, rocker-bottom feet, umiblical hernia, cardiac defects, polydactyly and microphthalma has what disorder?
trisomy 13
47
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.
trisomy 21
48
holoprosencephaly is due to what?
sonic hedgehog gene mutation
49
synpolydactyly due to what
GLI3 gene mutation (downstream target of sonic hedgehog signaling)
50
APGAR
appearance, pulse, grimace, activity, respiration
51
what defines a pre term baby?
before 37 weeks gestation
52
what defines a post term baby?
after 42 weeks gestation
53
What is the second leading cause of neonatal mortality behind congenital anomalies?
prematurity
54
If baby has symmetric FGR problem is related to _____
the fetus
55
If baby has asymmetric FGR (head larger than body) problem is related to ___
mom or placenta
56
Describe the different presentations of trisomy 7
if in placenta and fetus = in compatible with life | if just in placenta = SGA fetus
57
What is the most frequent cause of FGR?
maternal (HTN, hypercoagulable state, malnutrition)
58
Describe retrolental fibroplasia
Phase I: O2 therapy and hyperoxia -> dec VEGF -> endothelial cell apoptosis Phase II: relative hypoxia (RA) -> inc VEGF -> angiogenesis (neovascularization) --> retinopathy
59
neonatal respiratory distress is also known as what?
hyaline membrane disease
60
Neonatal respiratory distress is due to what
deficiency of pulmonary surfactant
61
What cell type is responsible for secreting surfactant?
Type II pneumocytes
62
When are fetus capable of producing surfactant?
35 weeks
63
What are the main components of surfactant?
lecithin phosphatidylglycerol hydrophylic SP-A and SP-D (immunity) hydrophobic SP-B and SP-C (surface tension)
64
What is the L/S ratio?
>2 baby can breath on own
65
What induces surfactant secretion? What inhibits secretion of surfactant? What induces surfactant synthesis?
Glucocorticoids (stress) and thyroxine insulin labor
66
Describe bronchopulmonary dysplasia
alveolar hypoplasia and wall thickening | ventilation can lead to scarring
67
Describe necrotizing enterocolitis (NEC)
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
Early onset of symptoms 0-7 days s/p birth with PNA, sepsis, meningitis
Group B strep
69
Late onset of symptoms 7-90 days s/p birth
Listeria, Candida
70
What type of fetal hydrops is associated with chromosomal abberation 45X?
cystic hygroma associated with Turner Syndrome
71
Immune hydrops is mostly due to what?
classic Rh incombatibility
72
What disease has intranuclear inclusions in erythroblasts in bone marrow?
Parvovirus B19
73
What type is accumulating in Kernicterus? | Where does it accumulate?
unconjugated hyperbilirubinemia | basal ganglia, thalamus, and cerebellum
74
self mutilation
Lesch-Nyham Syndrome
75
sweaty feet odor
isovaleric acidemia
76
mousy/musty odor
PKU
77
maple syrup
maple syrup disease
78
cataract
galactosemia
79
Cherry red macula
Tay-Sachs, GM1
80
Dislocated lens
Homocysteinuria
81
Pt presents with weight loss, muscle and fat atrophy, normal protein levels, anemia
Marasmus
82
Pt presents with wt loss, low serum protein level, normal %muscle and fat, generalized edema, anemia, easily pluckable hair
Kwashiorkor
83
heterotopia/choristoma
normal tissue in wrong place
84
hamartoma
overdevelopment of tissue normally present
85
benign tumor, has blood flowing in it, will resolve on own
hemangioma
86
has WBC + fluid flowing in it and won't regress on own
lymphangioma
87
Explain the processes of developing congenital infantile fibrosarcoma
chromosomal translocation t(12;15)(p13;q25) | ETV6-NTKR3 fusion transcript making tyrosine kinase stimulating RAS and PI3K/AKT oncogenic pathways
88
Most common malignancy in 0-4 yo age group
Leukemia
89
most common maliganncy in
Neuroblastoma
90
small round blue cell tumors
-blastoma
91
genetic marker N-myc amplification
neuroblastoma
92
11p13
Wilms tumor
93
t(8;14)
Burkitt lymphoma
94
PAX3-FKHR | PAX7-FKHR
Rhabdomyosarcom
95
t(11;12)
Ewing Sarcoma
96
13q14
retinoblastoma
97
increased urinary catecholamine
neuroblastoma
98
most common location for neuroblastoma
adrenal medulla
99
NB pt have what elevated in their urine?
VMA and HVA
100
small blue cell tumor with Homer-Wright pseudorossettes
NB; neuroendocrine marker
101
prescence of Schwann cells and ganglion cells
Gangioneuroma
102
blueberry muffin baby
neuroblastoma cutaneous metastases
103
Stage 4S
localized primary tumor with dissemination to skin, liver, bone marrow; limited to infants younger than 1 year
104
germline RB1 gene mutation
familial retinoblastoma
105
somatic RB1 gene mutation
sporadic retinoblastoma
106
most common malignant eye tumor of childhood
retinoblastoma
107
small blue cells and Flexner-Winersteiner Rosettes
retinoblastoma
108
stromal, epithelial tubules, blastemal elements
Wilm's tumor
109
WT1/11p13 mutation
Wilm's tumor
110
number 1 renal tumor in kids
Wilm's tumor

Path 2 exam 2 (6 decks)

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