Exam #3: Review Flashcards Preview

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Flashcards in Exam #3: Review Deck (129):
1

What is the incidence of Down's Syndrome?

1/700 births

2

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

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

3

What is the inheritance patter of Cystic Fibrosis?

Autosomal recessive

4

What chromosome is the CFTR gene located on?

Chromosome 7q31.2

5

What weeks outline the "critical period" of development?

Weeks 3-9

6

What are the five major complications of prematurity?

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

7

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

AGA= appropriate for gestational age
SGA= small for gestational age
LGA= large for gestational age

8

What are the fetal causes of FGR?

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

9

What type of FGR do the "fetal" causes result in?

Symmetric

10

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

Asymmetric or disproportionate

11

What is the difference between Caput Succedaneum & Cephalhematoma?

Caput Succedaneum= edema to presenting portion of scalp

Cephalhematoma= hemorrhage under the periosteum

12

What does Parovirus B19 infection cause in the newborn?

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

13

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

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

14

What is the lecithin/sphingomelin ratio at maturity?

>2

15

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

"Ground-glass" appearance

16

List three causes of Necrotizing Enterocolitis (NEC).

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

17

What is the direct translation of "erythroblastosis fetalis?"

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

18

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

Capillary hemangioma= birthmark
Cavernous hemangioma= "port-wine stain"

19

List the characteristics of Down's Syndrome.

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

20

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

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

21

List the clinical features of CF.

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

22

What are the characteristics of congenital rubella syndrome?

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

23

What is chorioamnionitis?

Inflammation of the fetal membranes (amnion & chorion)

24

What is funisitis?

Inflammation of the connective tissue of the umbilical cord

25

What is Villitis?

Inflammation of the chorionic villi

26

What are three major complications of HMD?

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

27

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

Bronchopulmonary dysplasia

28

What is infantile myofibromatosis?

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

29

What is fibromatosis?

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

30

List the presenting symptoms of a congenital neuroblastoma.

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

31

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

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

32

List the presenting symptoms of a Wilms tumor.

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

33

Describe the presentation of Fetal Alcohol Syndrome.

Growth Retardation
Microcephaly
Short Palpebral Fissures
Maxillary Hypoplasia
Atrial Septal Defect

34

What are the two Trinucleotide Repeat Disorders that we studied?

Fragile X Syndrome
Huntington's Disease

35

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

Sponataneous abortion

36

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

100%

37

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

50%

38

What are the phenotypic characteristics of Fragile X Syndrome?

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

39

What is the inheritance pattern for Marfan's Syndrome?

Autosomal dominant

40

What gene is mutated in Marfan's Syndrome?

Fibrillin-1

41

What types of EDS are "classic?"

Type I & II

42

What type of collagen is affected in "classic" EDS?

Type V

43

What type of EDS is the "vascular" subtype?

Type IV

44

What type of collagen is affected in "vascular" EDS?

Type III

45

What protein is encoded by NF-1?

Neurofibromin

46

What is the function of Neurofibromin?

Tumor suppressor that inactivates Ras proto-oncogene

47

What protein is encoded by NF-2?

Merlin

48

What enzyme is deficient in Alkaptonuria?

Homogentisic acid oxidase

49

What enzyme is deficient in Type I GSD?

Glucose 6-phosphatase

50

What are the three major manifestations of Type I GSD?

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

51

What is the eponym for Type I GSD?

"Von Gierke Disease"

52

What enzyme is deficient in Type V GSD?

Muscle phosphorylase

53

What is the eponym for Type V GSD?

McArdle Disease

54

What enzyme is deficient in Type II GSD?

acid-alpha1,4-glucosidase (acid maltase)

55

What does Type II GSD result in?

Accumulation of glycogen in the lysosomes of:
- Heart
- Muscle
- Liver
- CNS

56

What are the symptoms of infantile Type II GSD?

- Cardiomegaly
- Hypotonia
- Death prior to 2

57

What is the eponym for Type II GSD?

Pompe

58

What enzyme is deficient in Tay-Sachs Disease?

Hexoaminidase A

59

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

Accumulation of GM2 Gangliosides in neurons that ballon & die

60

What enzyme is deficient in Gaucher Disease?

Acid beta-glucosidase (glucocerebrosidase)

61

What accumulates in Gaucher Disease?

glucocerebroside

62

Which type of Gaucher Disease is most common?

Type 1

63

What are the symptoms of Type 1 Gaucher Disease?

*Non-neuropathic*

- Hepatosplenomegaly
- Pancytopenia
- Pulmonary Disease
- Nephropathy
- Thinning of bone cortex
- Pathologic fractures
- Bone pain

64

What enzyme is deficient in Niemann-Pick Disease?

Sphingomyelinase

65

Generally, what is deficient in the Mucopolysaccharidoses?

Lysosomal enzymes that degrade glycosaminoglycans

66

What enzyme is deficient in Hurler Disease?

Alpha-L iduronidase

67

What accumulates in Hurler Disease?

Dermatan sulfate & heparan sulfate in lysosomes

68

What are the symptoms of Hurler Disease?

Dwarfism
Hepatosplenomegaly
Corneal Clouding
Coarse Facial Features
Large Tongue
Stiff Joints

*****Death within 1st decade

69

What enzyme is deficient in Hunter Syndrome?

iduronosulfate sulfatase

70

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

Hunter= *****no corneal clouding*****

- Wider variety of symptoms
- May survive into adulthood
- Generally, less severe

71

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

CGG

72

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

> 230

73

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

CAG

74

What are the major symptoms of Huntington's Disease?

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

75

What is the genetic pathology in Prader-Willi Syndrome?

- Maternally imprinted
- Paternal deletion of 15q

Paternal deletion= P

76

What is the genetic pathology of Angelman Syndrome?

- Paternally imprinted
- Maternal deletion of 15q

77

Describe the presentation of Prader- Willi Syndrome.

Obesity
Hypogonadism
Mental Retardation
Hypotonia
Abnormal facies

78

Describe the presentation of Angleman Syndrome.

Hyperative
Inappropriate laughter
Siezures
Abnormal facies
Wide-based gait

"Happy puppet"

79

What does paternal imprinting mean?

Gene is "off" when passed from father to child

80

What does maternal imprinting mean?

Gene is "off" when passed from mother to child

81

Cellular transplant rejection is characterized by which type of Hypersensitivity?

Type IV Hypersensitivity

82

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

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

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

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

84

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

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

85

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

"Rejection vasculitis"

86

What is the appearance of hyperacute kidney rejection?

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

87

What is the appearance of acute kidney rejection?

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

88

What is the appearance of chronic kidney rejection?

- Vascular fibrosis
- Tissue ischemia
- Tubular atrophy
- Interstitial mononuclear cell infiltrates

89

What causes acute liver transplant rejection?

Cellular response where portal lymphocytic infiltrates target bile ducts & enothelium
- Bile duct damage
- Endotheliitis

90

What causes chronic liver transplant rejection?

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

91

What are the main targets of GVHD?

Skin
GI
Liver

92

Describe the presentation of acute GVHD.

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

93

Describe the presentation of acute GVHD.

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

94

In SLE, what are antibodies to dsDNA correlated with?

Active disease esp. nephritis

95

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

Vasculitis

96

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

In vivo= venous & arterial thromboses

In virto= prolongation of coagulation

97

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

Cardiolipin

98

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

Drug-induced SLE

99

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

Drug-induced SLE

100

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

Active SLE (dsDNA) w/ renal involvement

101

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

Speckled (associated with anti-Smith)

102

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

Polyarthralgia

103

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

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

104

Microscopically, how does the vasculature appear in chronic SLE?

"Onion-skin" layering i.e. fibrous thickening of vessels

105

What is Libman-Sacks endocarditis?

Nonbacterial endocarditis that is seen with SLE

106

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

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

107

What are the histological effects of Sjogren's Syndrome?

Ductal epithelial hyperplasia-->luminal obstruction
Fibrosis & fatty replacement of gland parenchyma

108

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

Nephritis
Pulmonary fibrosis
Peripheral neuropathy
Synovitis

109

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

Anti-topoisomerase I

110

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

Anti-centromere

*****Remember Crest & Centromere

111

What are the dermal manifestations of Systemic Sclerosis?

- Contractures w/ claw fingers
- Digital amputation
- Mask facies

112

What is Rheumatoid Factor?

IgM autoantibody to Fc portion of autologous IgG

113

What is unique about juvenile RA?

NO RF

114

What is the auto-antibody seen in MCTD?

antibody to Ribonucleoprotein (anti-U1 RNP)

115

What are the clinically relevant features of MCTD to remember?

- *****Good response to steroids******
- No renal involvement

116

What is the defect seen in X-Linked Agammaglobulinemia?

Failure of pro & pre B-cell maturation

117

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

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

118

What is the defect seen in Common Variable Immunodeficiency?

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

119

What can produce anaphylaxis in patients with Selective IgA Deficiency?

Blood transfusions containing IgA

120

What causes the majority of cases of Hyper IgM Syndrome?

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

121

What is the alternate name for Di George Syndrome?

22q11 deletion syndrome

122

What is the mnemonic for Di George Syndrome?

CATCH-22

Cardiac
Abnormal facies
T-Cell defect
Hypocalcemia

123

What are the two genetic mutations that can cause SCID?

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

Autosomal Recessive= Adenosine Deaminase Deficiency

124

What is the genetic mutation of Wiskott-Aldrich Syndrome?

X-Linked Recessive mutation of the WASP gene

125

What is the function of the Wiskott Aldrich Syndrome Protein?

Signal transduction & cytoskeleton maintenance

126

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

B-cell proliferation or plasma cell disorder

127

What is amyloid associated (AA) type seen in?

Chronic inflammation/ infection

128

What is ATTR associated with?

Peripheral neuropathy

129

What is Ab 2-microglobulin protein associated with?

Destructive arthropathy seen in patients on hemodialysis