Exam #3: Review Flashcards
(129 cards)
1
Q
What is the incidence of Down’s Syndrome?
A
1/700 births
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%)
3
Q
What is the inheritance patter of Cystic Fibrosis?
A
Autosomal recessive
4
Q
What chromosome is the CFTR gene located on?
A
Chromosome 7q31.2
5
Q
What weeks outline the “critical period” of development?
A
Weeks 3-9
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
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
8
Q
What are the fetal causes of FGR?
A
1) Chromosomal abnormalities
2) Genetic Syndromes
3) Congenital malformations
4) Infections
9
Q
What type of FGR do the “fetal” causes result in?
A
Symmetric
10
Q
What type of FGR is caused be the “placental” & “maternal” etiologies?
A
Asymmetric or disproportionate
11
Q
What is the difference between Caput Succedaneum & Cephalhematoma?
A
Caput Succedaneum= edema to presenting portion of scalp
Cephalhematoma= hemorrhage under the periosteum
12
Q
What does Parovirus B19 infection cause in the newborn?
A
1) Abortion
2) Stillbirth
3) Nonimmune hydrops fetalis
4) Anemia
13
Q
What are the four major risk factors for NRDS caused by HMD?
A
1) Prematurity
2) DM
3) C-section
4) Male
14
Q
What is the lecithin/sphingomelin ratio at maturity?
A
> 2
15
Q
What is the description of a CXR that is pathognomonic for HMD leading to NRDS?
A
“Ground-glass” appearance
16
Q
List three causes of Necrotizing Enterocolitis (NEC).
A
1) Hypoxemia*
2) Intestinal bacterial colonization
3) Oral feeding
17
Q
What is the direct translation of “erythroblastosis fetalis?”
A
immature erythroblasts in fetal circulation–caused by hemolysis in immune hydrops fetalis
18
Q
What are capillary hemangiomas & cavernous hemangiomas in layman’s terms?
A
Capillary hemangioma= birthmark
Cavernous hemangioma= “port-wine stain”
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
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
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
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
23
Q
What is chorioamnionitis?
A
Inflammation of the fetal membranes (amnion & chorion)
24
Q
What is funisitis?
A
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
