Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Infectious Agents > Genetics and Pediatric Pathology > Flashcards

Genetics and Pediatric Pathology Flashcards

1
Q

Embryo

A

Implantation until completion on first 8 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Fetus

A

9 weeks until birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Neonatal

A

First 4 weeks after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Infancy

A

First year after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Most common cause of death between 1 month and 1 year

A

SIDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Most common causes of death 5-9 years

A 
o	Accidents (unintentional injuries)
o	Malignant neoplasms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Most common causes of death 10-14 years

A

Accidents (unintentional injuries)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Most common birth defects

A
  • Down syndrome (Trisomy 21)

* Bicupsid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Malformations

A

• Primary failure, intrinsically abnormal development = abnormal morphogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Disruptions

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Deformations

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Agenesis

A

Complete absence of an organ and primordium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Aplasia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Atresia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Pathogenesis of congential abnormalities

A
  1. Timing
  2. Teratogens
  3. Genes affected
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

When is rubella most likely to infect?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

When is CMV most likely to infect?

A

2nd trimester

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Caput succedaneum

A

Scalp edema, extremely common

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

HOXD13

A

gain mutations inducing syndactyly/polydactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

HOXA13

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Sodium valproate

A

(anticonvulsant) also dirupts HOX gene expression with craniofacial defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Retinoic acid and isoretinoin

A

act as a teratogens disrupting HOX gene expression causing retinoic acid embryopathy (CNS, cardiac and craniofacial defects)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

PAX2

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

PAX3

A

Waardenburg syndrome- congenital pigment abnormalities and deafness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

PAX6

A

Aniridia- congenital absence of the iris

32
Q

Premature

A

Before 37 weeks

33
Q

risk factors for prematurity

A

o Premature rupture of placental membranes
o Intrauterine infection
o Uterine, cervical, placental structural anomalies
o Multiple gestation

34
Q

Self mutilation

A

Lesch-Nyham syndrome

35
Q

Sweaty feet body or urine odor

A

Isovaleric acidemia

36
Q

Mousy or musty urine body or urine odor

A

PKU

37
Q

Maple syrup urine or body odor

A

Maple syrup disease

38
Q

Cataract

A

Galatosemia

39
Q

Cherry red macula

A

Tay-Sachs

40
Q

Dislocated lens

A

homocysteinuria

41
Q

Phthalates

A

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
Q

Simian hand creases

A

Down syndrome

43
Q

Robertsonian translocation

A

Balanced translocation b/w 2 acrocentric chromosomes- trisomy 21- centromere near the end of the chromosome; 14 and 21

44
Q

Cleft lip and palate

A

Ethanol, rubella, thalidomide

45
Q

Neural tube defects

A

folic acid (B9) lowers incidence

46
Q

Congenital disolocation of the hip

A
  • Shallow acetabulum (genetic)

- Breech presentation (environment)

47
Q

Placenta previa

A

Implantation in lower uterus

48
Q

Placenta accrete

A

Implantation in uterine wall

49
Q

Fetal causes of FGR

A

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
Q

Placental causes of FGR

A

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
Q

Maternal causes of FGR

A

Hypertension
Hypercoagulable states
Alcohol, narcotics, heavy smoking
General malnutrition

52
Q

Respiratory distress associations/Hyaline membrane disease

A

Males
Maternal DM
Multiple gestations
C-sections

A problem with deficiency of pulmonary surfactant- released by corticosteroids

53
Q

Surfactant

A

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
Q

Bronchopulmonary dysplasia

A

Alveolar hypoplasia and thickened walls= arrest at saccular stage
- O2 thought to decrease lung maturation- dysmorphic capillaries and decreased VEGF

55
Q

Necrotizing Enterocolitis

A

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
Q

Germinal matrix hemorrhage

A

Subependymal hemorrhage with extension into ventricles occurs in preterm infants

57
Q

late onset sepsis

A

Listeria or candida

Requires latent growth period

58
Q

Cystic fibrosis

A

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
Q

Marasmus

A

Caloric deprivation
Somatic compartment affected
Serum albumin levels normal
Loss of fat, muscle wasting

60
Q

Kwashiokor

A

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
Q

Heterotopia/choristoma

A

Normal cells from a tissue type in the wrong place

62
Q

Harmatoma

A

overdevelopment of tissue normally present

normal cells, abnormal architecture

63
Q

Hemangiomas

A

usually in skin

64
Q

Lymphangiomas

A

skin or deeper

65
Q

Nonimmune hydrops

A
  • Cardiovascular defects (intrinsic cardiac failure)
  • Chromosomal anomalies (Turner, Trisomy 21)
  • Twin-twin transfusion
  • Fetal non-immune anemia
66
Q

Phenylketonuria

A

Mutation in phenylalanine hydroxylase which converts phenylalanine to tyrosine.

Infants present with impaired brain development and mental retardation

TX: dietary restriction

67
Q

galactosemia

A

Deficiency in enzymes breaking down lactose to glucose and galactose

68
Q

Von Gierke’s disease type I

A

A glycogen storage disease in the liver

Deficiency in converting glucose 6 phosphate to glucose

69
Q

Tay Sachs Disease

A

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
Q

Neimann-Pick Disease

A

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
Q

Gaucher disease

A

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
Q

Mucopolysaccharides

A

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
Q

Hurler syndrome

A

Mucopolysaccaride disease

Due to alpha-1-iduronidase deficiency. Severe form with death due to cardiovascular complications

74
Q

Huner syndrome

A

Mucopolysaccaride disease. A syndrome lacking in cornel opacification with a milder course than Hurler syndrome

75
Q

Gaucher Type I

A

Skeletal muscle and spleen

Predominant in Jews

76
Q

Gaucher Type II

A

Presents in infants
No glucocerebrosidase activity
Affects brain tissue
Results in death at an early age

No predilection for Jews

77
Q

Gaucher Type III

A

Intermediate of types II and III

Systemic involvement and also progressive CNS involvement starting in early adolescence/adulthood

Infectious Agents (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions