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PBD II > Pediatric Pathology > Flashcards

Pediatric Pathology Flashcards

1
Q

transplacental (hematologic) infections:

A

TORCH (Toxoplasma, Other (Treponema pallidum), Rubella, CMV, Herpes)
Parvovirus: 5th disease

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2
Q

transcervical infections

A

Most bacterial, some viral (HSV II)
Frequent with preterm delivery
Gonnococcal and Chlamydial infections

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3
Q

post-natal maternal milk

A

CMV
HIV
HTLV I
Heat-labile E. coli enterotoxin

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4
Q

perinatal infections

A

Group B strep #1 within 1 week of delivery

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5
Q

hydrops fetalis

A

Accumulation of edema in fetus
Immune or nonimmune
Erythroblastosis fetalis if accompanied by anemia

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6
Q

immune hydrops

A

Rh- mother, Rh+ baby
first pregnancy: anti-D IgM (can’t cross placenta)
second pregnancy: anti-D IgG (can cross placenta)
concurrent ABO incompatibility helps prevent sensitization to Rh

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7
Q

Coombs test

A

tests for presence of anti-RBC Abs on RBCs

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8
Q

non-immune hydrops

A

Cardiovascular defects
Chromosomal anomalies (Turner, Trisomy 21 and 18)
Lymphatic anomalies
Twin-twin transfusion
Fetal non-immune anemia (homozygous alpha-thalassemia, parvovirus B19 induced aplastic anemia)

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9
Q

self-mutilation

A

Lesch-Nyhann syndrome

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10
Q

sweaty feet

A

isovaleric acidemia

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11
Q

mousy or musty

A

PKU

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12
Q

cataracts

A

galactosemia

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13
Q

cherry red macula

A

Tay-Sachs, GM1

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14
Q

dislocated lens

A

homocysteinuria or Marfans

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15
Q

cystic fibrosis

A

AR, 1 in 2500 live births, most common lethal genetic disease
Affects transport of fluid secretions in exocrine glands and epithelial lining of respiratory, GI, and reproductive tracts
Viscous mucous secretions, obstruct organ passages
Pancreatic insufficiency, steatorrhea, malnutrition, hepatic cirrhosis, intestinal obstruction, male infertility, recurrent pulmonary infections

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16
Q

hemangiomas

A

usually skin, most common tumor of infancy, benign

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17
Q

lymphangiomas

A

skin or deeper (neck, axilla, mediastinum, retroperitoneum), benign

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18
Q

fibrous tumors

A

t(12;15)(p13;q25) in congenital-infantile fibrosarcoma (ETV6-NTKR3 fusion transcript making tyrosine kinase stimulating RAS and PI3K/AKT oncogenic pathways)

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19
Q

most common malignancy in children

A

acute lymphoblastic leukemia

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20
Q

1 solid tumor in children

A

CNS tumors

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21
Q

2 solid tumor in children

A

neuroblastoma (#1 in infants)

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22
Q

neuroblastoma genes and findings

A

17q gain, 1p deletion
N-myc amplification
DNA hyperdiploidy, near triploidy
urinary catecholamines

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23
Q

Ewing sarcoma genes

A

t(11;22)

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24
Q

rhabdomyosarcoma genes

A

PAX3 and PAX7

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25
Burkitt lymphoma gene
t(8;14)
26
*Wilms tumor gene
11p13 (WT1)
27
retinoblastoma gene
13q14 (RB)
28
neuroblastoma findings
Presents as abdominal mass, most commonly adrenal medulla 90% secrete catecholamines, VMA and HVA in urine Small blue cell tumor *Homer-Wright pseudorosettes
29
neuroblastoma cutaneous metastases
blueberry muffin baby
30
neuroblastoma stage 4s
localized primary tumor in infants with dissemination limited to skin, liver, and/or bone marrow. Good prognosis.
31
N-MYC amplification
poor neuroblastoma prognosis | Double minutes
32
retinoblastoma findings
Malignant eye tumor Familial (60-70%): germline RB1 mutation Sporadic (30-40%): somatic RB1 mutation Flexner-Wintersteiner rosettes
33
nephroblastoma
``` #1 primary renal tumor in children, #4 pediatric malignancy Triphasic histology: stroma, tubules, blastemal elements ```
34
embryo
implantation to first 8 weeks
35
fetus
9 weeks to birth
36
neonatal
first 4 weeks after birth (most hazardous)
37
perinatal
5 months before to 1 month after birth
38
infancy
first year after birth
39
childhood
birth to puberty or legal adult age
40
most common cause of death from 1-12 months
SIDS
41
most common cause of death from 1-14 years
accidents
42
congenital anomalies
Present at birth, may not be expressed until later in life Up to 3% of newborns The most severe anomalies cause intrauterine death
43
most common birth defects
1. bicuspid aortic valve | 2. Down syndrome
44
malformation
Primary failure, intrinsically abnormal development > abnormal morphogenesis E.g. anencephaly, congenital heart defects Usually multifactorial
45
disruption
Secondary disruption of previously normal structure E.g. amniotic bands, environmental cuases Not heritable!
46
deformation
Extrinsic disturbance from abnormal biomechanical forces > structural abnormalities Maternal (uterine constraint) or fetal/placental (oligohydramnios) cause 2% of newborns E.g. breech presentation
47
sequence
Cascade of anomalies set off by one initiating aberation May be a "complex" E.g. Potter sequence
48
malformation syndrome
Constellation of congenital anomalies thought to be pathologically related but cannot be explained by a single initiating event May be a "complex" E.g. viral disease or chromosomal alteration that affects different tissues
49
Potter sequence (oligohydramnios)
renal agenesis > oligohydramnios > amnion nodosum pulmonary hypoplasia, fetal compression > altered facies, positioning defects, breech presentation
50
Potter facies
Ocular hypertelorism (increased space btw eyes) Low-set ears Receding chin Flattening of nose
51
TORCH organism
``` Toxoplasma Other (T. pallidum) Rubella CMV Herpes simplex ``` Cataracts, conjunctivitis, pneumonitis, HSM, petechiae and purpura Early infection: heart problems
52
agenesis
complete absence of an organ an primordium (nothing formed)
53
aplasia
absence of an organ d/t primordium development failure
54
atresia
block in something with a lumen
55
dysplasia
abnormal organization of cells (malformation context only)
56
omphalocele
abdominal musculature fails to form, covered by peritoneum, easier to repair
57
gastroschisis
part of abdominal wall fails to form, not covered by peritoneum
58
causes of congenital anomalies
1. 40-60% unknown | 2. 20-25% multifactorial
59
most sensitive period of fetal development
4-5 weeks (heart forms first 6 weeks)
60
most sensitive period for teratogenicity
3-9 weeks
61
Rubella embryopathy
``` Worst of TORCH, usually 1st trimester Tetrad of: Cataracts Deafness Heart defects Mental retardation ```
62
CMV
Later in pregnancy (2nd trimester) CNS involvement Microcephaly, mental retardation, deafness, HSM Does not affect organogenesis much, primarily affects growth of organs
63
thalidomide
limb developmental problems
64
Vit A/13-cis-retinoic acid/accutane(isotretinoin)
disrupts HOX genes
65
valproic acid (antiepilectic)
disrupts HOX genes
66
fetal alcohol syndrome (FAS)
atrial septal defects, #1 cause of mental retardation, growth retardation, microcephaly
67
phthalates
Added to PVC and used in flexible plastics Exposure to in lab animals causes endocrine disruption and testicular dysgenesis syndrome Some concern for BPA effects on brain, behavior, and prostate glands in fetuses, infants, and children
68
maternal diabetes
Diabetic embryopathy Hyperglycemia in mother induces hyperinsulinemia in infant > decreased surfactant Fetal macrosomia (birth weight > 4000g) Heart problems, brain and spinal defects, oral clefts, kidney and GI defects, limb deficiencies
69
caput succedaneum
scalp edema, extremely common (vaginal delivery > cone head)
70
cephalhematoma
hemorrhage (more problematic), 25% will have skull fracture
71
HOX 1-4
face
72
HOX 9-13
extremeties
73
HOXD13
syndactyly/polydactyly
74
HOXA13
hand-foot-genital syndrome (distal limb and distal urinary tract malformations)
75
PAX2
renal-coloboma syndrome (developmental defects of kidneys, ears, eyes, brain)
76
PAX3
Waardenburg syndrome (congenital pigment abnormalities and deafness)
77
PAX6
aniridia (congenital absence of iris)
78
Robertsonian translocation
2 copies of gene on 1 chromosome, none on the homolog | Trisomies or monosomies in progeny
79
B9
lowers incidence of neural tube defects
80
2 requirements for congenital dislocation of hip
1. shallow acetabulum (genetic) | 2. breech presentation (environment)
81
probability of neonate mortality (APGAR)
0-1: 50% mortality 4: 20% 7 or better: almost 0%
82
premature (pre-term)
Before 37 weeks 2nd leading cause of neonatal mortality behind congenital anomalies Risk factors: premature rupture of placental membranes, intrauterine infection, uterine, cervical, or placental structural abnormalities, multiple gestaion
83
postmature (post-term)
after 42 weeks
84
PROM
Premature rupture of membranes (after 37 weeks) | Okay to deliver baby
85
PPROM
Pre-term premature rupture of membranes (before 37 weeks) | Administer anti-labor meds to delay deliver
86
intrauterine infection
Present in 25% of preterm births Choriamnitis (membranes) Funisitis (cord) U. urealyticum, M. hominis, G. vaginalis, T. vaginalis, N. gonorrheae, C. trachomatis
87
fetal causes of FGR
Usually symmetric growth Chromosomal disorders Congenital anomalies Infection by a TORCH
88
placental causes of FGR
Usually asymmetric Uteroplacental insufficiency Confined placental mosaicism (trisomy 7)
89
maternal causes of FGR
``` Most frequent causes of FGR Hypertension Hypercoagulable states Alcohol, narcotics, heavy smoking, drugs (dilantin) Malnutrition ```
90
hyaline membrane disease
Most are preterm Surfactant deficiency More common in males, maternal DM, multiple gestation, C-section
91
surfactant
``` Mature type II pneumocytes Dipalmitoyl phosphatidylcholine (lecithin) SP-B and SP-C (surface tension) L/S ratio > 2 lungs are mature L/S ratio ```
92
retinopathy of prematurity (retrolental fibroplasia)
Phase I: O2 therapy > decreased VEGF > endothelial cell apoptosis Phase II: relative hypoxia (room air) > increased VEGF > angiogenesis
93
bronchopulmonary dysplasia
alveolar hypoplasia
94
necrotizing enterocolitis (NEC)
intestinal ischemia | platelet activating factor elevated in stool
95
germinal matrix hemorrhage
Subependymal (periventricular) hemorrhage with extension into ventricles in preterm infants

PBD II (12 decks)

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