Quiz 52, 53 Flashcards

1
Q

What amino acid is a biological precursor to catecholamines?

A

Tyrosine

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

What amino acid is the precursor to nitric oxide?

A

Arginine

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

What is the common presentation of ischemic bowel disease?

A

Usually seen in older patients (F>M), presents with acute or intermittent cramping abdominal pain and bloody diarrhea

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

What is the most common location of ischemic colitis?

A

Splenic flexure

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

What is a common cause of ischemic colitis?

A

Atherosclerosis, occlusion, hypoperfusion

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

What type of amyloid accumulates from chronic inflammation?

A

SAA - serum amyloid A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are systemic manifestations of AA amyloidosis?

A

Nephrotic syndrome and organomegaly

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

Patients with nephrotic syndrome are predisposed to forming thromboses, why?

A

Decreased antithrombin III and increased fibrinogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What type of thrombosis is associated with nephrotic syndrome?

A

Renal vein thrombosis is most common

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

What is seen on histologic examination of amyloidosis?

A

Apple-green birefringence with polarization of congo red stain

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

What cranial nerves emerge from the brainstem at the cerebellopontine angle?

A

CN VII (facial nerve) and CN VIII (vestibulocochlear)

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

What is a common causative organism of neonatal conjunctivitis? How is it prevented?

A

Chlamydia trachomatis; prevented by erythromycin eye drops

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

Neonatal conjunctivitis followed by pneumonia

A

C. Trachomatis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is mycosis fungoides?

A

A cutaneous T cell lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the appearance of mycosis fungoides?

A

Itchy, erythematous plaques and nodules

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

Cytoplasmic inclusions in the epidermal cells is pathognomonic for what?

A

Molluscum contagiosum

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

Poarakeratosis, hyperkeratosis, acanthosis is seen in what skin lesions?

A

Psoriasis

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

Weak peripheral pulses is associated with what cardiac disease?

A

Aortic stenosis

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

Heaves is associated with what cardiac disease?

A

LVH (heard at apex) or RVH (heard on L side)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Deceased S2 heart sound is associated with what heart disease?

A

Aortic stenosis

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

Loud S3 heart sound is associated with what cardiac finding?

A

Rapid ventricular filling - seen in congestive heart failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the formation of microtubules in cilia/flagella?

A

9 peripheral pairs and 2 central

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

What direction does dynein travel along the microtuble, minus or plus end?

A

Minus end

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What type of HSR is contact dermatitis?

A

Type IV

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

What tissues is GLUT4 found in?

A

Cardiac muscle, skeletal muscle, fat

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

What tissues is GLUT1 found on?

A

Most tissues; esp brain and red blood cells

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

Describe GLUT1 response to insulin

A

No responsive to insulin; tissues therefore take up glucose independently of insulin/plasma glucose levels

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

Where is GLUT2 found?

A

Liver, pancreatic beta cells, basolateral surface of small intestine

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

Where is GLUT3 found?

A

Most tissues, neurons, placenta and testes

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

Where is GLUT5 found? What is its function?

A

Small intestine, testes and sperm; fructose transporter

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

What type of brain bleed can have symptoms present several days to weeks following a traumatic head injury?

A

Subacute subdural hematoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the cause of bleeding in subdural hematomas?

A

Rupture of bridging veins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the appearance of subdural hematoma on CT?

A

Crescentic hematoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What type of bleed results in “lens-shaped” on CT scan?

A

Epidural bleeds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the cause of bleeding in an epidural hematoma?

A

Middle meningeal artery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Intraventricular bleed is seen in what type of brain bleed?

A

Subarachnoid hemorrhage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Rupture of bridging veins results in what type of brain bleed? What is seen on CT?

A

Subdural hematoma; crescent shape on CT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What brain bleeds cross suture lines? Which do not?

A

Subdural hematomas cross suture lines; epidural hematomas do NOT cross suture lines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What type of brain bleed is seen with a middle meningeal rupture?

A

Epidural hematoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is a freshwater amoeba that can result in primary amebic meningoencephalitis?

A

Naegleria fowleri

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Young boy presents with loss of smell after swimming in nearby lake, what organism could he be infected with?

A

Naegleria fowleri

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is seen on examination of CSF in a patient with Naegleria fowleri?

A

High PMNs, glucose low, protein elevated, CSF pressure high

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the microscopic appearance of Naegleria fowleri?

A

Motile flagellated trophozoite

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Creating a shunt between the portal system and a vein of the caval system would help relieve what?

A

Portal hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What does the splenic vein drain into?

A

Hepatic portal vein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What vein does the left renal vein drain into?

A

IVC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the cause of an aspergilloma?

A

Growth of Aspergillus fumigatus in preexisting cavitary lesions of the lung (tuberculosis, bronchiectasis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Appearance of aspergillus fumigatus?

A

Monomorphic filamentous fungus that shows dichotomous branching of septate, hyphae typically at 45 degrees

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

How is aspergillus fumigatus treated?

A

Voriconazole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Radical mastectomy results in loss of muscle?

A

Pec major

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the cause of psuedomyxoma peritonei?

A

Rupture of mucinous cystadeoma or mucinous cystadenocarcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What are the most common type of tumor in the appendix?

A

Carcinoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Pearly papules on sun exposed skin is pathognomonic for what?

A

Basal cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What is seen on pathologic examination of basal cell carcinoma?

A

Clusters of dark, basal cell-like tumor cells with palisading nuclei at the periphery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What cancer can arise from actinic keratosis?

A

Squamous cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the presentation of staphylococcal scalded skin syndrom in an infant?

A

Generalized severe erythema and flaccid bullae (+ Nikolsky sign)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Old man presents with bone pain and his hate doesn’t fit. What is on the differential?

A

Paget disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What virus may cause Paget disease?

A

Paramyxovirus - infects osteoclasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Why can one see high-output cardiac failure in Paget disease?

A

Increased marrow arteriovenous shunts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What cancer are patients with Paget disease at increased risk for?

A

Osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What type of reactive T cells (CD8+ T Cells) are seen in mono?

A

Downey type II cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What cells are infected by EBV?

A

B cells via CD21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What shift occurs in the oxygen-hemoglobin dissociation curve due to CO poisoning?

A

Left shift

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What happens to oxygen carrying capacity of the blood with CO poisoning?

A

Decreased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is the defense mechanism identification?

A

Modeling of behavior on another individual; mechanism of reducing pain from separation or loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is an error of omission?

A

Failing to do the right thing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What is error of commission?

A

Doing something wrong

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What enzyme is affected by lead poisoning?

A

Aminolevulinate dehydratase and ferrochelatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the treatment for lead poisoning?

A

Chelation with EDTA, dimecaprol, succimer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What type of anemia is seen in lead poisoning?

A

Microcytic, hypochromic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What does lead compete with in the renal tubules? What does this result in?

A

Competes with uric acid; results in hyperuricemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What antibodies are found in CREST syndrome?

A

Anticentromere antibody

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What are the three branches of the celiac artery?

A

Spenic artery, left gastric artery, common hepatic artery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Distinct inclusions in RBCs seen on peripheral smear after starting course of TMP-SMX?

A

Heinz bodies due to G6PD def.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Heinz bodies are what?

A

Denature Hgb in RBCs seen in acute hemolysis and are related to oxidative stress

76
Q

What are transponsons?

A

Mobile genetic elements; “jumping genes”

77
Q

What genetic material plays an important role in building multi-drug resistance plasmids?

A

Transposons

78
Q

What is a prophage?

A

Temperate phage DNA insterted into a bacterial chromosome

79
Q

What type of G protein are alpha 1 receptors coupled to?

A

Gq

80
Q

What does Gq activate? Then what products are formed?

A

PLC; PIP2 and DAG

81
Q

Isolated lifestyle, has no longing for others, loner

A

Schizoid

82
Q

Weird, eccentric behavior, magical thinking

A

Schizotypal

83
Q

What is the cause of cat scratch fever?

A

Bartonella henselae

84
Q

What vein drains the majority/medial side of the leg?

A

Long saphenous vein

85
Q

Lymph drainage of the medial leg/foot goes where?

A

Inguinal lymph nodes

86
Q

What vein drains the lateral side of dorsum of the foot?

A

Short saphenous vein

87
Q

Where does lymph drain from the lateral aspect of the dorsum of the foot?

A

Lymph nodes behind the popliteal fossa

88
Q

What pathologic changes are seen in fibromuscular dysplasia?

A

Thickening of tunica media and collagen formation

89
Q

What pattern is seen on angiography in fibromuscular dysplasia?

A

Beads on a string

90
Q

What interaction causes strong adhesion necessary for extravasation?

A

Interaction between LFA-1 on WBCs and ICAM-1 on endothelial cells

91
Q

What are the four key indicators of DIC?

A

Decreased fibrinogen levels, elevated fibrin degradation products, D-dimers, prolonged bleeding time

92
Q

How can when decipher between cirrhosis related coagulopathy and DIC?

A

D-dimers and fibrin degradation products - both are elevated in DIC

93
Q

What is the key difference between FDPs and D-dimer?

A

FDPs can be generated from degradation of fibrinogen or fibrin; D-dimer derives exclusively from fibrin

94
Q

Spindle-celled vascular neoplasm

A

Kaposi sarcoma

95
Q

What is the appearance of Kaposi sarcoma on physical exam?

A

Red-violet plaques or nodules disseminated across the oral cavity, face, extremities, and trunk

96
Q

What is acetylcholines affect on pupil diameter?

A

Decreases (constricts)

97
Q

What muscle does acetylcholine act on in the pupil? What is its affect?

A

Acts on pupillae sphincter muscle (M3 receptors) and causes pupillary constriction

98
Q

What muscarinic receptors are found in blood vessels?

A

M3

99
Q

What is acetylcholines affect on blood vessels?

A

Acts on M3 receptors to release nitric oxide, causing vasodilation

100
Q

What is the MOA of phenylephrine?

A

Alpha 1 agonist

101
Q

What is phenylephrines affect on pupil diameter?

A

Pupillary dilation

102
Q

What is atropines affect on pupil diameter and heart rate?

A

Blocks M3 receptors in pupil leading to pupil dilation; blocks M2 receptors in the heart leading to increased heart rate

103
Q

What is the MOA of phentolamine?

A

Non-selective alpha antagonist

104
Q

What receptors cause pupillary dilation? Constriction?

A

Alpha 1 receptors cause pupillary dilation; M3 receptors cause constriction

105
Q

What is the MOA of tricyclic antidepressants?

A

Block reuptake of serotonin and norepinephrine

106
Q

What are SEs of TCAs?

A

Antimuscarinic effects - dry mouth, tachycardia, urinary retention, IOP, and sedation, QT prolongation, Torsades, AV block

107
Q

What drug class is doxepin in?

A

TCA

108
Q

What is the MOA of galantamine? What is it used for?

A

Blocks acetylcholinesterase; used in Alzheimer disease

109
Q

What cancer can cause SIADH?

A

Small cell carcinoma

110
Q

Small cell carcinoma cell are derived from what?

A

Neuroendocrine cells

111
Q

What oncogene is associated with small cell carcinoma?

A

L-myc

112
Q

What is seen microscopically in small cell carcinoma? What immunohistochemical stains confirm it?

A

Uniform, polygonal blue cells with little cytoplasm; neuron specific enolase (NSE) and chromogranin

113
Q

What paraneoplastic syndromes are associated with small cell carcinoma?

A

SIADH, cushing syndrome (secretes ACTH), and Lambert-Eaton myasthenic syndrome

114
Q

What type of tumor form glandular structures that may contain intracytoplasmic mucin?

A

Adenocarcinoma

115
Q

Serotonin-secreting tumor of neuroendocrine cell origin

A

Carcinoid tumor

116
Q

What type of tumor secretes parathyroid hormone-related protein (PTH-rp)?

A

Squamous cell carcinoma

117
Q

What are the symptoms of carcinoid syndrome?

A

Wheezing, flushing, diarrhea, tachycardia

118
Q

Urinary tract calcium stones can be associated with what type of cancer?

A

Squamous cell carcinoma - secretes PTH-rp

119
Q

What is conjugation?

A

Transfer of genetic material from one cell to another via cell-to-cell contact

120
Q

In transfer of a plasmid, what region is transferred first? Transferred last?

A

OriT is first, tra is last

121
Q

What is Hfr?

A

High frequency recombination - F+ plasmid can become incorporated into bacterial chromosomal DNA

122
Q

What is transferred during Hfr x F- conjugation?

A

Transfer of leading part of plasmid and a few flanking chromosomal genes; ie not entire chromosome/plasmid is transferred - F- cell remains F-

123
Q

What is generalized transduction?

A

“A packaging event.” Lytic phage infects bacterium, bacterial DNA is cleaved, bacterial DNA may be packaged into phage capsid

124
Q

What is specialized transduction?

A

“An excision event.” Lysogenic phage infects bacterium; viral DNA incorporates into bacterial chromosome. When phage DNA is excised, flanking bacterial DNA is also excised.

125
Q

What bacterial toxins are encoded in lysogenic phage?

A

Cholera toxin, O antigen from salmonella, botulinum toxin, erythrogenic toxin from Group A strep, diphtheria toxin, shiga toxin

126
Q

What bacteria can be contracted by consuming raw oysters?

A

Vibrio vulnificus and V. Parahaemolyticus

127
Q

What is the morphology of Vibrio sp?

A

Gram negative, comma-shaped rods what are isolated on alkaline media (TCBS)

128
Q

How can one contract V. Vulnificus?

A

Swimming in brackish waters, shucking oysters, consumption of undercooked/raw sea food

129
Q

How does one contract V. Parahaemolyticus?

A

Consumption of undercooked/raw seafood

130
Q

What are the symptoms of V. Parahaemolyticus?

A

Watery diarrhea with cramping abdominal pain

131
Q

How does one contract Campylobacter jejuni?

A

Eating poultry

132
Q

What infectious agent might one acquire from eating salads, unwashed fruits and hamburger?

A

E. Coli

133
Q

How does one acquire salmonella? What is its morphology?

A

Eating poultry; gram negative rod, non-lactose fermenters, H2S positive

134
Q

What is the morphology of C. Jejuni?

A

Gram negative curved rods that grow at 42 C (107.6 F)

135
Q

What is the inheritance pattern of acute intermittent porphyria?

A

Autosomal dominant

136
Q

What enzyme is deficient in acute intermittent porphyria?

A

Porphobilinogen deaminase (aka hydroxymethylbilane synthase)

137
Q

What substrates become elevated in acute intermittent porphyria?

A

Porphobilinogen and delat-aminolevulinic acid (ALA)

138
Q

What are the symptoms of acute intermittent porphyria?

A

Episodic; 5Ps: peripheral neuropathy, painful abdomen, pink urine, pyschiatric sequelae (depression, hallucinations), paralysis. Can also see leukocytosis and microcytic anemia

139
Q

What precipitates acute intermittent porphyria?

A

Drugs that induce Cyp450 (eg phenobarbital) and sulfonamide (even though these inhibit Cyp450)

140
Q

What can be used in treatment of acute intermittent porphyria?

A

Heme and glucose - inhibit ALA synthase activity

141
Q

What enzyme in heme synthesis is inhibited by lead?

A

ALA dehydratase

142
Q

Liver reveals evidence of hemorrhage and necrosis in the centrilobular regions of the liverparenchyma, what is the possible underlying condition?

A

Chronic congestive heart failure

143
Q

What is congestive hepatopathy?

A

Blood stasis due to CHF in the centrail veins and sinusoids of hepatic lobules leads to central hemorrhagic necrosis

144
Q

The classic gross appearance of “nutmeg liver” is seen in what condition?

A

Congestive heart failure

145
Q

Councilman bodies are seen in what disease?

A

Viral hepatitis

146
Q

Viral hepatitis produces necrosis where?

A

In the hepatocytes of the periportal areas

147
Q

Hepatocyte necrosis and formation of mallory bodies is seen in what disease?

A

Alcoholic hepatitis

148
Q

What is the affect of ACE inhibitors on serum K?

A

Serum K increases due to the decreased in AG II and therefore decreased in aldosterone; aldosterone potentiates urinary secretion of K

149
Q

What are the side effects of ACEi?

A

Angioedema, dry hacking cough, hyperkalemia

150
Q

What are the affects of ACEi on sodium?

A

Increased urinary excretion of sodium; due to decreased aldosterone

151
Q

What is the MOA of Aliskiren?

A

Direct renin inhibitor

152
Q

Essential tremor commonly affects what parts of the body?

A

Upper extremities, head, and voice

153
Q

What are the first line therapies for essential tremor?

A

Propranolol (non selective beta antagonist) and primidone (barbiturate anticonvulsant)

154
Q

In what disease do you seen neurofibrillary tangles?

A

Alzheimer disease

155
Q

What regions of the brain are neurofibrillary tangles found in AD?

A

Frontal and temporal lobes

156
Q

Gliosis of the caudate nucleus is found in what disease?

A

Huntington disease

157
Q

What are Lewy bodies? What disease are they commonly seen in?

A

Eosinophilic intracytoplasmic spherules; seen in Parkinson disease

158
Q

In Parkinson disease, there is loss of pigmention in what region of the brain?

A

Substantia nigra

159
Q

What are neurofibrillary tangles?

A

Hyperphosphorylated tau protein

160
Q

In what disease does one seen granulovacuolar degeneration and Hirano bodies?

A

Alzheimer disease

161
Q

What are Hirano bodies?

A

Rod-shaped, crystal-like, and eosinophilic intracellular aggregates of actin

162
Q

What is a positive Trendelenburg sign?

A

Pelvis tilts because weight bearing leg cannot maintain alignment of pelvis through hip abduction

163
Q

What is the cause of a positive Trendelenburg sign?

A

Weakness of the abductors of the hip (gluteus medius and gluteus minimus)

164
Q

Patient with a disc herniation has a positive Trendelenburg sign, at what level(s) might the disc herniation have occured?

A

L4-S1

165
Q

What nerve innervates the gluteus medius?

A

Superior gluteal nerve

166
Q

What nerve innervates the adductor magnus?

A

Obturator nerve

167
Q

What nerve innervates the medial compartment of the thigh?

A

Obturator nerve

168
Q

What innervates the gluteus maximus?

A

Inferior gluteal nerve

169
Q

What innervates the gluteus minimus?

A

Superior gluteal nerve

170
Q

When a patient stands on his right foot, and the hip on the left side drops, what muscle(s) are damaged?

A

Right gluteus medius and/or right gluteus minimus

171
Q

During which phase of the cell cycle does a trinucleotide expansion occur?

A

S phase

172
Q

During which phase of the cell cycle does mismatch repairs take place?

A

G2

173
Q

Slippage of the DNA polymerase results in what genetic mutation?

A

Trinucleotide repeat expansion

174
Q

What is the embryonic failure in a Meckel diverticulum?

A

Vitellin duct fails to atrophy completely

175
Q

What is the anatomical difference between infantile and adult coarctation of the aorta?

A

Infantile-constriction is proximal (preductal) to the ductus arteriosus; adult-constriction is distal (postductal) to the ductus arteriosus

176
Q

Infantile coaractation of the aorta is associated with what other cardiovascular defect?

A

PDA

177
Q

Tumor that grows from the walls of the lateral ventricles and contains large ganglioid cells is characteristic of what tumor?

A

Subependymal giant cells astrocytoma

178
Q

Subependymal giant cell astrocytomas is associated with what disease?

A

Tuberous sclerosis

179
Q

Mutations in what genes cause tuberous sclerosis? Including what chromosome?

A

TSC1 and TSC2; chromosome 16

180
Q

What is the inheritance pattern of tuberous sclerosis?

A

Autosomal dominant

181
Q

Cafe-au-lait spots are found in what disease(s)?

A

Neurofibromatosis type I and neurofibromatosis type II; and McCune-Albright syndrome

182
Q

What is the origin of a hemangioblastoma? Where does it commonly develop?

A

Vascular origin; develops in cerebellum, spinal cord and retina

183
Q

What disease is hemangioblastoma associated with?

A

Von-Hippel-Lindau syndrome

184
Q

Hypopigmented “ash-leaf” spots are associated with what disease?

A

Tuberous sclerosis

185
Q

What are Lisch nodules? What disease are they associated with?

A

Small, pigmented iris harmatomas; associated with NF1

186
Q

Renal angiomyolipomas and cardiac rhabdomyomas are associated with what disease?

A

Tuberous sclerosis