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Infectious Agents > Genetics and Pediatric Pathology > Flashcards

Genetics and Pediatric Pathology Flashcards

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1
Q

Embryo

A

Implantation until completion on first 8 weeks

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2
Q

Fetus

A

9 weeks until birth

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3
Q

Neonatal

A

First 4 weeks after birth

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4
Q

Infancy

A

First year after birth

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5
Q

Causes of death younger than 1 year

A
  • Congenital malformations, deformations, and chromosomal abnormalities
  • Disorders related to short gestation and low birth weight
  • SIDS
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6
Q

Most common cause of death between 1 month and 1 year

A

SIDS

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7
Q

Most common causes of death 1-4 years

A 
o	Accidents (unintentional injuries)
o	Congenital malformations, deformations, and chromosomal abnormalities
o	Malignant neoplasms
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8
Q

Most common causes of death 5-9 years

A 
o	Accidents (unintentional injuries)
o	Malignant neoplasms
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9
Q

Most common causes of death 10-14 years

A

Accidents (unintentional injuries)

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10
Q

Most common birth defects

A
  • Down syndrome (Trisomy 21)

* Bicupsid aortic valve

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11
Q

Malformations

A

• Primary failure, intrinsically abnormal development = abnormal morphogenesis

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12
Q

Disruptions

A

Secondary destruction of previously normal structure
Extrinsic disturbance of normal morphogenesis
-Amniotic bands

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13
Q

Deformations

A

• Extrinsic disturbance of development from abnormal biomechanical forces leading to structural abnormalities

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14
Q

Sequence

A

• A pattern of cascade anomalies set off by one initiating aberration
o Frequently a single central localized aberration in organogenesis with linked secondary effects
o May be called a “complex”

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15
Q

Malformation sequence

A

• A constellation of congenital anomalies that are thought to be pathologically related, which, unlike a sequence, cannot be explained by a single initiating event
o Can have a single etiology: a viral disease or chromosomal alteration that affects different tissues
o May be called a “complex”

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16
Q

Agenesis

A

Complete absence of an organ and primordium

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17
Q

Aplasia

A

Complete absence of an organ due to primordium development failure
But primoridum is/was present

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18
Q

Atresia

A

Absence of an organ, usually in a hollow organ; trachea

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19
Q

Pathogenesis of congential abnormalities

A
  1. Timing
  2. Teratogens
  3. Genes affected
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20
Q

When is rubella most likely to infect?

A

conception → 16 wks (50% 1st month, 20% 2nd, 7% 3rd)

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21
Q

When is CMV most likely to infect?

A

2nd trimester

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22
Q

Drugs and chemicals

A

Accutane: vitamin A likes substance. Acts like a hormone, tells DNA to turn off

Thalidomide: limb developmental problems. WNT signaling

Valproic acid: disrupts HOX genes

Fetal Alcohol Syndrome
Smoking
Phthalates

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23
Q

Caput succedaneum

A

Scalp edema, extremely common

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24
Q

Genetic causes of malformations

A
  1. Genes producing transcription factors for embryonic/fetal development
  2. Karyotypic (chromosomal) aberrations
  3. Single gene mutations: holoprosencephaly/sonic hedgehog gene
  4. Multifactorial: 2 or more genes; genes + environmental factors
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25
HOXD13
gain mutations inducing syndactyly/polydactyly
26
HOXA13
mutations cause hand-foot-genital syndrome (distal limb and distal urinary tract malformations)
27
Sodium valproate
(anticonvulsant) also dirupts HOX gene expression with craniofacial defects
28
Retinoic acid and isoretinoin
act as a teratogens disrupting HOX gene expression causing retinoic acid embryopathy (CNS, cardiac and craniofacial defects)
29
PAX2
renal-coloboma syndrome- developmental defects of the kidneys, eyes, ears, and brain
30
PAX3
Waardenburg syndrome- congenital pigment abnormalities and deafness
31
PAX6
Aniridia- congenital absence of the iris
32
Premature
Before 37 weeks
33
risk factors for prematurity
o Premature rupture of placental membranes o Intrauterine infection o Uterine, cervical, placental structural anomalies o Multiple gestation
34
Self mutilation
Lesch-Nyham syndrome
35
Sweaty feet body or urine odor
Isovaleric acidemia
36
Mousy or musty urine body or urine odor
PKU
37
Maple syrup urine or body odor
Maple syrup disease
38
Cataract
Galatosemia
39
Cherry red macula
Tay-Sachs
40
Dislocated lens
homocysteinuria
41
Phthalates
Plasticizers added to PVC and used in flexible plastics. Can cross the placenta and pass into breast milk DEHP and DINP used in toys
42
Simian hand creases
Down syndrome
43
Robertsonian translocation
Balanced translocation b/w 2 acrocentric chromosomes- trisomy 21- centromere near the end of the chromosome; 14 and 21
44
Cleft lip and palate
Ethanol, rubella, thalidomide
45
Neural tube defects
folic acid (B9) lowers incidence
46
Congenital disolocation of the hip
- Shallow acetabulum (genetic) | - Breech presentation (environment)
47
Placenta previa
Implantation in lower uterus
48
Placenta accrete
Implantation in uterine wall
49
Fetal causes of FGR
Intrinsic problem with fetus in face of adequate support Will have symmetric FGR- baby is born equally small throughout the body Chromosomal disorders Congenital anomalies Infection by a TORCH organism
50
Placental causes of FGR
Placenta is both fetal and maternal in origin Uteroplacental insufficiency Usually results in asymmetric FGR with brain spared. Placenta abnormalities: abruption, previa, thrombosis, infection, infarction, small placenta Post fertilization mutation
51
Maternal causes of FGR
Hypertension Hypercoagulable states Alcohol, narcotics, heavy smoking General malnutrition
52
Respiratory distress associations/Hyaline membrane disease
Males Maternal DM Multiple gestations C-sections A problem with deficiency of pulmonary surfactant- released by corticosteroids
53
Surfactant
Secreted by type II pneumocytes. Usually undergo mature levels about 35 wks (glandular --> saccular --> alveolar) Consists of phospholipids and glycoproteins L/S >2: lungs mature
54
Bronchopulmonary dysplasia
Alveolar hypoplasia and thickened walls= arrest at saccular stage - O2 thought to decrease lung maturation- dysmorphic capillaries and decreased VEGF
55
Necrotizing Enterocolitis
Bacterial colonization and formula feeding aggravate mucosal injury Inflammation leads to mucosal breakdown Platelet activating factor elevated in stool- causes enterocyte apoptosis and loosens tight junctions sets up a cycle leading to sepsis and shock
56
Germinal matrix hemorrhage
Subependymal hemorrhage with extension into ventricles occurs in preterm infants
57
late onset sepsis
Listeria or candida | Requires latent growth period
58
Cystic fibrosis
Abnormal function of epithelial chloride protein encoded by the cystic fibrosis transmembrane conductance regulator gene Leads to abnormally viscid mucous secretions, which obstruct organ passages Affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, GI, and reproductive tracts
59
Marasmus
Caloric deprivation Somatic compartment affected Serum albumin levels normal Loss of fat, muscle wasting
60
Kwashiokor
Protein deprivation due to pure carb diet Visceral compartment affected Low levels of serum proteins Hair has loss of color or alternating bands Weight is normal but severe edema
61
Heterotopia/choristoma
Normal cells from a tissue type in the wrong place
62
Harmatoma
overdevelopment of tissue normally present normal cells, abnormal architecture
63
Hemangiomas
usually in skin
64
Lymphangiomas
skin or deeper
65
Nonimmune hydrops
- Cardiovascular defects (intrinsic cardiac failure) - Chromosomal anomalies (Turner, Trisomy 21) - Twin-twin transfusion - Fetal non-immune anemia
66
Phenylketonuria
Mutation in phenylalanine hydroxylase which converts phenylalanine to tyrosine. Infants present with impaired brain development and mental retardation TX: dietary restriction
67
galactosemia
Deficiency in enzymes breaking down lactose to glucose and galactose
68
Von Gierke's disease type I
A glycogen storage disease in the liver | Deficiency in converting glucose 6 phosphate to glucose
69
Tay Sachs Disease
Affects gangliosides which are right in neurons. Results from lysosomal GM2 ganglioside accumulation (mutation in a subunit of the hexosaminidase enzyme complex) Affects Jews- mental retardation at 6 mon, blindness and death at 2-3 yrs Morphology - Neuronal ballooning w lipid-filled cytoplasmic vacuoles - Neuronal destruction with microglial proliferation - Accumulation of lipids in retinal ganglion cells --> cherry red spots
70
Neimann-Pick Disease
A&B: sphingomyelinase deficiency. Accumulates in mononuclear phagocytes A: lethal- vacuoles have a foaminess B: organomegaly but no CNS development. Pts survive to adults C: Mutations in NPC1/2- involved with cholesterol transport from lysosomes
71
Gaucher disease
Diminished glucocerebrosidase activity leads to accumulation in mononuclear phagocytes. Leads to splenomegaly, lymphadenopathy, marrow involvement (fractures), pancytopenia, and thrombocytopenia Gaucher cells- distended with period acid- PAS + material with a fibrillary appearance resembling crumpled tissue paper
72
Mucopolysaccharides
Deficiency of enzymes that degrade glycosaminoglycants (abundant in extracellular matrix of CT) All are autosomal recessive except Hunter disease (X linked) Clinical features: coarse facial features, hepatosplenomegaly, corneal clouding, valve and subendothelial arterial thickening, joint stiffness, mental retardation
73
Hurler syndrome
Mucopolysaccaride disease | Due to alpha-1-iduronidase deficiency. Severe form with death due to cardiovascular complications
74
Huner syndrome
Mucopolysaccaride disease. A syndrome lacking in cornel opacification with a milder course than Hurler syndrome
75
Gaucher Type I
Skeletal muscle and spleen | Predominant in Jews
76
Gaucher Type II
Presents in infants No glucocerebrosidase activity Affects brain tissue Results in death at an early age No predilection for Jews
77
Gaucher Type III
Intermediate of types II and III | Systemic involvement and also progressive CNS involvement starting in early adolescence/adulthood

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