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General Pathology > Exam #3: Review > Flashcards

Exam #3: Review Flashcards

1
Q

What is the incidence of Down’s Syndrome?

A

1/700 births

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2
Q

What are the three major karyotypes associated with Down’s Syndrome?

A

Trisomy 21= 47, XX, +21 (95%)
Translocation= 46, XX (14;21) (4%)
Mosiac= 46, XX/ 47,XX +21 (1%)

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3
Q

What is the inheritance patter of Cystic Fibrosis?

A

Autosomal recessive

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4
Q

What chromosome is the CFTR gene located on?

A

Chromosome 7q31.2

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5
Q

What weeks outline the “critical period” of development?

A

Weeks 3-9

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6
Q

What are the five major complications of prematurity?

A

1) Hyaline Membrane Disease
2) Necrotizing Enterocolitis
3) Sepsis
4) Intraventricular hemorrhage
5) Developmental Delay

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7
Q

What do the acronyms AGA, SGA, and LGA mean?

A 
AGA= appropriate for gestational age 
SGA= small for gestational age 
LGA= large for gestational age
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8
Q

What are the fetal causes of FGR?

A

1) Chromosomal abnormalities
2) Genetic Syndromes
3) Congenital malformations
4) Infections

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9
Q

What type of FGR do the “fetal” causes result in?

A

Symmetric

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10
Q

What type of FGR is caused be the “placental” & “maternal” etiologies?

A

Asymmetric or disproportionate

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11
Q

What is the difference between Caput Succedaneum & Cephalhematoma?

A

Caput Succedaneum= edema to presenting portion of scalp

Cephalhematoma= hemorrhage under the periosteum

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12
Q

What does Parovirus B19 infection cause in the newborn?

A

1) Abortion
2) Stillbirth
3) Nonimmune hydrops fetalis
4) Anemia

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13
Q

What are the four major risk factors for NRDS caused by HMD?

A

1) Prematurity
2) DM
3) C-section
4) Male

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14
Q

What is the lecithin/sphingomelin ratio at maturity?

A

> 2

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15
Q

What is the description of a CXR that is pathognomonic for HMD leading to NRDS?

A

“Ground-glass” appearance

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16
Q

List three causes of Necrotizing Enterocolitis (NEC).

A

1) Hypoxemia*
2) Intestinal bacterial colonization
3) Oral feeding

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17
Q

What is the direct translation of “erythroblastosis fetalis?”

A

immature erythroblasts in fetal circulation–caused by hemolysis in immune hydrops fetalis

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18
Q

What are capillary hemangiomas & cavernous hemangiomas in layman’s terms?

A

Capillary hemangioma= birthmark

Cavernous hemangioma= “port-wine stain”

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19
Q

List the characteristics of Down’s Syndrome.

A 
Intellectual disability 
Flat Face
Prominent epicanthal folds/ oblique palpebral fissures
Single palmar (Simean) crease
Gap between 1st & 2nd toes 
Duodenal atresia
ASD
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20
Q

What is the specific mutation associated with the most severe cases of CF?

A

Deletion of 3x nucleotides coding for phenylalanine at amino acid 508

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21
Q

List the clinical features of CF.

A 
Recurrent pulmonary infection 
Cor pulmonale 
Chronic pancreatitis 
Secondary biliary cirrhosis
Malabsorption
Obstruction of the Vas Deferens-->sterility 
Abnormal sweat electrolytes
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22
Q

What are the characteristics of congenital rubella syndrome?

A

1) Low birth weight
2) Purpuric rash
3) Small head size
4) Heart defects
5) Visual problems

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23
Q

What is chorioamnionitis?

A

Inflammation of the fetal membranes (amnion & chorion)

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24
Q

What is funisitis?

A

Inflammation of the connective tissue of the umbilical cord

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25
Q

What is Villitis?

A

Inflammation of the chorionic villi

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26
Q

What are three major complications of HMD?

A

1) Bronchopulmonary dysplasia
2) Retinopathy of prematurity
3) Necrotizing enterocolitis

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27
Q

Post-mortem evaluation of a neonatal lung reveals a “cobblestone surface,” what is this pathognomonic for?

A

Bronchopulmonary dysplasia

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28
Q

What is infantile myofibromatosis?

A

Most prevalent tumor of infancy–a soft tissue tumor located in the skin, muscle, bone, or viscera

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29
Q

What is fibromatosis?

A

A condition characterized by multiple fibromas (sub-Q nodules) that grow rapidly

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30
Q

List the presenting symptoms of a congenital neuroblastoma.

A

1) Abdominal mass
2) Weight loss
3) Respiratory distress
4) Proptosis
5) Periorbital ecchymosis

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31
Q

What are the four major sources of childhood malignancy in order of incidence?

A

1) Hematopoietic
2) Nervous
3) Renal
4) Adrenal

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32
Q

List the presenting symptoms of a Wilms tumor.

A

1) Abdominal mass
2) Hematuria
3) Fever
4) HTN

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33
Q

Describe the presentation of Fetal Alcohol Syndrome.

A 
Growth Retardation
Microcephaly 
Short Palpebral Fissures
Maxillary Hypoplasia
Atrial Septal Defect
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34
Q

What are the two Trinucleotide Repeat Disorders that we studied?

A

Fragile X Syndrome

Huntington’s Disease

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35
Q

What is the typical fate of AA homozygotes (autosomal dominant)?

A

Sponataneous abortion

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36
Q

What percentage of daughters receives an X-linked recessive mutation from their affected father?

A

100%

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37
Q

What percentage of sons receive an X-linked recessive mutation from their asymptomatic mother?

A

50%

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38
Q

What are the phenotypic characteristics of Fragile X Syndrome?

A

1) Long face
2) Large mandible
3) Everted ears
4) Large testes

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39
Q

What is the inheritance pattern for Marfan’s Syndrome?

A

Autosomal dominant

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40
Q

What gene is mutated in Marfan’s Syndrome?

A

Fibrillin-1

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41
Q

What types of EDS are “classic?”

A

Type I & II

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42
Q

What type of collagen is affected in “classic” EDS?

A

Type V

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43
Q

What type of EDS is the “vascular” subtype?

A

Type IV

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44
Q

What type of collagen is affected in “vascular” EDS?

A

Type III

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45
Q

What protein is encoded by NF-1?

A

Neurofibromin

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46
Q

What is the function of Neurofibromin?

A

Tumor suppressor that inactivates Ras proto-oncogene

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47
Q

What protein is encoded by NF-2?

A

Merlin

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48
Q

What enzyme is deficient in Alkaptonuria?

A

Homogentisic acid oxidase

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49
Q

What enzyme is deficient in Type I GSD?

A

Glucose 6-phosphatase

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50
Q

What are the three major manifestations of Type I GSD?

A

1) Glycogen accumulation in the liver
2) Glycogen accumulation in the renal tubules
3) Hypoglycemia

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51
Q

What is the eponym for Type I GSD?

A

“Von Gierke Disease”

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52
Q

What enzyme is deficient in Type V GSD?

A

Muscle phosphorylase

53
Q

What is the eponym for Type V GSD?

A

McArdle Disease

54
Q

What enzyme is deficient in Type II GSD?

A

acid-alpha1,4-glucosidase (acid maltase)

55
Q

What does Type II GSD result in?

A

Accumulation of glycogen in the lysosomes of:

  • Heart
  • Muscle
  • Liver
  • CNS
56
Q

What are the symptoms of infantile Type II GSD?

A
  • Cardiomegaly
  • Hypotonia
  • Death prior to 2
57
Q

What is the eponym for Type II GSD?

A

Pompe

58
Q

What enzyme is deficient in Tay-Sachs Disease?

A

Hexoaminidase A

59
Q

What does the deficiency in Hexoaminidase A in Tay-Sachs Disease result in?

A

Accumulation of GM2 Gangliosides in neurons that ballon & die

60
Q

What enzyme is deficient in Gaucher Disease?

A

Acid beta-glucosidase (glucocerebrosidase)

61
Q

What accumulates in Gaucher Disease?

A

glucocerebroside

62
Q

Which type of Gaucher Disease is most common?

A

Type 1

63
Q

What are the symptoms of Type 1 Gaucher Disease?

A

Non-neuropathic

  • Hepatosplenomegaly
  • Pancytopenia
  • Pulmonary Disease
  • Nephropathy
  • Thinning of bone cortex
  • Pathologic fractures
  • Bone pain
64
Q

What enzyme is deficient in Niemann-Pick Disease?

A

Sphingomyelinase

65
Q

Generally, what is deficient in the Mucopolysaccharidoses?

A

Lysosomal enzymes that degrade glycosaminoglycans

66
Q

What enzyme is deficient in Hurler Disease?

A

Alpha-L iduronidase

67
Q

What accumulates in Hurler Disease?

A

Dermatan sulfate & heparan sulfate in lysosomes

68
Q

What are the symptoms of Hurler Disease?

A 
Dwarfism
Hepatosplenomegaly 
Corneal Clouding
Coarse Facial Features 
Large Tongue 
Stiff Joints

*****Death within 1st decade

69
Q

What enzyme is deficient in Hunter Syndrome?

A

iduronosulfate sulfatase

70
Q

How does the presentation of Hunter Syndrome differ from Hurler Syndrome?

A

Hunter= no corneal clouding

  • Wider variety of symptoms
  • May survive into adulthood
  • Generally, less severe
71
Q

What is the specific trinucleotide repeat associated with Fragile X Syndrome?

A

CGG

72
Q

How many copes of the TRE do patient need to have in Fragile X Syndrome to be symptomatic?

A

> 230

73
Q

What is the specific TRE associated with Huntington’s Disease?

A

CAG

74
Q

What are the major symptoms of Huntington’s Disease?

A 
Chorea 
Irregular, rapid, non-stereotype involuntary movements
Oculomotor abnormalities 
Parkinsonism
Depression
75
Q

What is the genetic pathology in Prader-Willi Syndrome?

A
  • Maternally imprinted
  • Paternal deletion of 15q

Paternal deletion= P

76
Q

What is the genetic pathology of Angelman Syndrome?

A
  • Paternally imprinted

- Maternal deletion of 15q

77
Q

Describe the presentation of Prader- Willi Syndrome.

A 
Obesity
Hypogonadism
Mental Retardation
Hypotonia 
Abnormal facies
78
Q

Describe the presentation of Angleman Syndrome.

A 
Hyperative 
Inappropriate laughter 
Siezures
Abnormal facies 
Wide-based gait

“Happy puppet”

79
Q

What does paternal imprinting mean?

A

Gene is “off” when passed from father to child

80
Q

What does maternal imprinting mean?

A

Gene is “off” when passed from mother to child

81
Q

Cellular transplant rejection is characterized by which type of Hypersensitivity?

A

Type IV Hypersensitivity

82
Q

What is the difference between direct & indirect pathways of cellular transplant rejection?

A

Direct= recipient T-cells recognize donor MHC presented on DONOR/GRAFT APCs (dendritic cells mostly)

Indirect= recipient T-cells recognize donor MHC presented on HOST APCs

83
Q

What is T-cell mediated cytotoxicity in the context of transplant rejection?

A

CD8+ T-cells react to MHC Class I & differentiate to CTLs that induce apoptosis of graft cells

84
Q

What is delayed type hypersensitivity in the context of transplant rejection?

A

CD4+ T-cells are activated by reacting to MHC Class II & produce cytokines that cause graft tissue damage & inflammation

85
Q

Generally, what does the humoral arm of the immune response produce in transplant rejection?

A

“Rejection vasculitis”

86
Q

What is the appearance of hyperacute kidney rejection?

A

Acute fibrinoid necrosis of arteries, arterioles, glomeruli, & capillaries

87
Q

What is the appearance of acute kidney rejection?

A 
CD8= Tubular damage & endotheliitis 
CD4= chronic interstitial inflammation 
Humoral= necrotizing vasculitis
88
Q

What is the appearance of chronic kidney rejection?

A
  • Vascular fibrosis
  • Tissue ischemia
  • Tubular atrophy
  • Interstitial mononuclear cell infiltrates
89
Q

What causes acute liver transplant rejection?

A

Cellular response where portal lymphocytic infiltrates target bile ducts & enothelium

  • Bile duct damage
  • Endotheliitis
90
Q

What causes chronic liver transplant rejection?

A 
Cellular= progressive bile duct destruction
Humoral= antibody mediated damage to hepatic arterioles-->ischemia
91
Q

What are the main targets of GVHD?

A

Skin
GI
Liver

92
Q

Describe the presentation of acute GVHD.

A

Dermatitis–>mild to severe rash
Enteritis–>ulcers that can cause bloody diarrhea
Hepatitis–>hepatic & bile duct necrosis causing jaundice

93
Q

Describe the presentation of acute GVHD.

A 
Skin= Dermal fibrosis & destruction of skin appendages
GI= Esophageal stricture 
Liver= "cholestatic" jaundice
94
Q

In SLE, what are antibodies to dsDNA correlated with?

A

Active disease esp. nephritis

95
Q

In SLE, what are antibodies to Ribonucleoprotein, especially anti-Smith correlated with?

A

Vasculitis

96
Q

In SLE, what do antiphospholipid antibodies cause in vivo & in vitro?

A

In vivo= venous & arterial thromboses

In virto= prolongation of coagulation

97
Q

What can anti-phospholipid antibodies react with to cause a false positive for Syphillis in SLE?

A

Cardiolipin

98
Q

What type of SLE is associated with homogeneous or diffuse ANA fluorescence?

A

Drug-induced SLE

99
Q

What type of SLE is associated with homogeneous or diffuse ANA fluorescence?

A

Drug-induced SLE

100
Q

What is a rim pattern of ANA fluorescence associated with in SLE?

A

Active SLE (dsDNA) w/ renal involvement

101
Q

What is the most common pattern of ANA fluorescence in SLE?

A

Speckled (associated with anti-Smith)

102
Q

What symptom is most commonly seen in the joints of SLE patients?

A

Polyarthralgia

103
Q

What symptom is most commonly seen on the skin of SLE patients?

A

Malar rash i.e. erythematous rash that is exacerbated by UV light (sun)

104
Q

Microscopically, how does the vasculature appear in chronic SLE?

A

“Onion-skin” layering i.e. fibrous thickening of vessels

105
Q

What is Libman-Sacks endocarditis?

A

Nonbacterial endocarditis that is seen with SLE

106
Q

What are the ANAs that are specific to Sjogren’s Syndrome?

A

SS-A (Ro) & SS-B (La)

107
Q

What are the histological effects of Sjogren’s Syndrome?

A

Ductal epithelial hyperplasia–>luminal obstruction

Fibrosis & fatty replacement of gland parenchyma

108
Q

What are the four principal manifestations of extraglandular Sjogren’s Syndrome?

A

Nephritis
Pulmonary fibrosis
Peripheral neuropathy
Synovitis

109
Q

What antibody is associated with the diffuse variant of Systemic Sclerosis?

A

Anti-topoisomerase I

110
Q

What antibody is associated with the limited variant of Systemic Sclerosis (CREST Syndrome)?

A

Anti-centromere

*****Remember Crest & Centromere

111
Q

What are the dermal manifestations of Systemic Sclerosis?

A
  • Contractures w/ claw fingers
  • Digital amputation
  • Mask facies
112
Q

What is Rheumatoid Factor?

A

IgM autoantibody to Fc portion of autologous IgG

113
Q

What is unique about juvenile RA?

A

NO RF

114
Q

What is the auto-antibody seen in MCTD?

A

antibody to Ribonucleoprotein (anti-U1 RNP)

115
Q

What are the clinically relevant features of MCTD to remember?

A
  • Good response to steroids*

- No renal involvement

116
Q

What is the defect seen in X-Linked Agammaglobulinemia?

A

Failure of pro & pre B-cell maturation

117
Q

What is the genetic mutation seen in X-Linked Agammaglobulinemia?

A

X-linked recessive (boys only) mutation of B-cell tyrosine kinase (BTK)

118
Q

What is the defect seen in Common Variable Immunodeficiency?

A

Inability of B-cells to differentiate into plasma cells (ab producing cells)

119
Q

What can produce anaphylaxis in patients with Selective IgA Deficiency?

A

Blood transfusions containing IgA

120
Q

What causes the majority of cases of Hyper IgM Syndrome?

A

X-Linked Recessive mutation of CD40L on HELPER T-CELLS

121
Q

What is the alternate name for Di George Syndrome?

A

22q11 deletion syndrome

122
Q

What is the mnemonic for Di George Syndrome?

A

CATCH-22

Cardiac
Abnormal facies
T-Cell defect
Hypocalcemia

123
Q

What are the two genetic mutations that can cause SCID?

A

X-Linked Recessive= gamma-chain of cytokine receptor gene

Autosomal Recessive= Adenosine Deaminase Deficiency

124
Q

What is the genetic mutation of Wiskott-Aldrich Syndrome?

A

X-Linked Recessive mutation of the WASP gene

125
Q

What is the function of the Wiskott Aldrich Syndrome Protein?

A

Signal transduction & cytoskeleton maintenance

126
Q

What is amyloid light chain (AL) type associated with?

A

B-cell proliferation or plasma cell disorder

127
Q

What is amyloid associated (AA) type seen in?

A

Chronic inflammation/ infection

128
Q

What is ATTR associated with?

A

Peripheral neuropathy

129
Q

What is Ab 2-microglobulin protein associated with?

A

Destructive arthropathy seen in patients on hemodialysis

General Pathology (33 decks)

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