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FOM Final Knowledge Exam > Quiz 1 Material > Flashcards

Quiz 1 Material Flashcards

1
Q

Which classes of CFTR mutations involve CFTR present in the membrane, with loss of control over ion pumps?

A

Classes IV, VI

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2
Q

Which classes of CFTR proteins involve an underproduction or lack of production of CFTR?

A

Classes I, V

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3
Q

What classes of CFTR mutations involve incorrect folding or sorting of CFTR proteins?

A

Classes II, V

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4
Q

Which classes of CFTR mutations involve an inability to hydrolyze ATP?

A

Class III

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5
Q

Where are acetylcholine receptors found?

A

The postsynaptic membranes of neurons and muscles

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6
Q

Postganglionic sympathetic neurons innervating abdominopelvic organs arise where?

A

The preaortic ganglia

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7
Q

Preganglionic sympathetic neurons arise from what part of the spinal cord?

A

T1-L2 lateral horn gray matter

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8
Q

Preganglionic parasympathetic neurons in the vagus nerve arise where?

A

The medulla

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9
Q

Postganglionic parasympathetic neurons destined for abdominopelvic organs arise where?

A

Intramural ganglia

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10
Q

What are primordial germ cells (PGCs)?

A

cells that arise from the yolk sac which migrate into the embryo to become gametes

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11
Q

A teratoma is derived from what type of cell? Which germ layers can be found there?

A

PGCs; cells from all 3 germ layers

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12
Q

Where are PGCs found in a male fetus?

A

the seminiferous tubules

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13
Q

When does the first meiotic division complete in oogenesis?

A

puberty

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14
Q

What is the first step of fertilization?

A

capacitation of sperm

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15
Q

What is the second step in fertilization?

A

penetration of the corona radiata

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16
Q

What is the third step in fertilization?

A

penetration of the zona pellucida

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17
Q

What is the fourth step in fertilization?

A

contact of the sperm and oocyte; triggering the zona reaction

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18
Q

What is the fifth step in fertilization?

A

fusion of the sperm and oocyte

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19
Q

What is another name for the outer cell mass formed during morulation/gastrulation?

A

the trophoblast

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20
Q

What is another name for the inner cell mass formed during morulation/gastrulation?

A

the embryoblast

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21
Q

Is the embryoblast or the trophoblast responsible for the development of all structures seen in an adult?

A

the embryoblast

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22
Q

True/False: The embryoblast is pluripotent during the morula stage

A

False; it is totipotent (able to becoem embryonic, placental, or amnionic tissue)

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23
Q

About what day after fertliization does implantation occur?

A

Day 7

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24
Q

About what time does the amnionic cavity and bilaminar disk form?

A

week 2

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25
Q

When does gastrulation and neurulation occur?

A

Week 3

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26
Q

What is a hydatidiform mole?

A

A pregnancy without an embryo

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27
Q

What is the ploidy of a complete hydatidiform mole?

A

diploid (XX, XY)

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28
Q

How can a complete hydatidiform mole form?

A

dispermic fertilization OR normal fertilization followed by loss of female pronucelus and mitosis of male pronucleus

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29
Q

What is the ploidy of a partial hydatidiform mole?

A

triploid (XXX, XXY, XYY)

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30
Q

How does a partial hydatidiform mole form?

A

dispermic fertilization

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31
Q

What is the last structure during morulation containing totipotent cells?

A

the morula

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32
Q

About what time is a blastocyst formed during gastrulation?

A

about day 5

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33
Q

Trisomy of sex chromosomes often results in what condition?

A

Klinefelter’s syndrome

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34
Q

Monosomy (XO) manifests as what clinical condition?

A

Turner’s syndrome

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35
Q

Monosomy is often caused by what chromosomal defect?

A

nondisjunction in meiosis I or II

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36
Q

What does primary active transport require to move a particle against its concentration gradiant?

A

ATP

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37
Q

What are the two types of secondary active transport?

A

Transport by symporter or by antiporter

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38
Q

What type of junction primarily promotes cell-cell adhesion?

A

an adherens junction

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39
Q

Adherens junctions are characterized chiefly by what type of protein?

A

cadherin

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40
Q

What is the primary purpose of desmosomes?

A

To anchor cells to neighbors via intermediate filament cytoskeleton

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41
Q

What two major types of proteins compose desmosomes?

A

Desmoplakins (type of cadherin) and keratin

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42
Q

What is the function of a hemidesmosome?

A

To anchor the cytoskeleton of a cell to the basal lamina

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43
Q

What two types of protein primarily compose hemidesmosomes?

A

integrins and keratin

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44
Q

What type of protein primarily makes up gap junctions?

A

connexin proteins

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45
Q

What types of protein primarily makes up tight junctions?

A

claudins and occludins

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46
Q

What is the major difference between healing a wound by first intention and by second intention?

A

First intention involves healing where the edges of the wound are closely reapproximated; second intention involves tissue deposition from the bottom of the wound toward the top

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47
Q

What is the major difference between dense regular and irregular CT?

A

dense regular CT will fibers arranged in parallel, while irregular will be randomly arrayed

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48
Q

What four cell types are resident in CT?

A

macrophages, fibroblasts, mast cells, and adipocytes

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49
Q

What are the three most important transient cells in CT?

A

plasma cells, neutrophils, and lymphocytes

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50
Q

What are the two main places where dense regular CT is found?

A

tendons and ligaments

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51
Q

What is the main function of ground substance in CT?

A

Helping CT to form a viscous barrier and provide shock absorption

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52
Q

What are the three main cell types found in ground substance?

A

GAGs, Proteoglycans, and structural glycoproteins (such as fibronectin and laminin)

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53
Q

What type of collagen fibers form reticular fibers? Where are they found?

A

Type III collagen; found in extensible organs, blood vessels, and smooth muscle

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54
Q

What is the main function of matrix metalloproteases?

A

To degrade the ECM

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55
Q

What is the most important cytokine in the synthesis/deposition of connective tissue during remodeling?

A

TGF-beta

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56
Q

What characterizes Ehler-Danlos syndrome?

A

Defective collagen synthesis and processing

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57
Q

What are possible clinical presentations of Ehler-Danlos syndrome?

A

hyperextensive skin, joint hypermobility, tissue fragility, and possibly a Gorlin sign (ability to touch nose with tongue)

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58
Q

What is the characterization of Marfan syndrome?

A

An autosomal dominant disorder affecting elastin protein

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59
Q

What are potential CV disorders resulting from Marfan syndrome?

A

mitral valve prolapse, aortic aneurysm, and dissection

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60
Q

What are potential ocular disorders resulting from Marfan syndrome?

A

dislocated lenses, retinal detachments

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61
Q

What are common clinical signs of Marfan syndrome?

A

tall stature, with disproportionately long extremities, joint hypermobility, and scoliosis

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62
Q

What characterizes a hypertrophic scar?

A

collagen fibers are parallel to skin layer, and stay within wound area

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63
Q

What characterizes a keloid scar?

A

collagen fibers are random and disorganized, possibly more blood vessels, and the scar extends beyond the wound area

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64
Q

What is the main function of laminin in the body?

A

It acts a major protein constitutent of hemidesmosomes, and helps to anchor cells to the basement membrane

65
Q

What neuronal cell bodies are housed in ventral horn gray matter of the spinal cord?

A

somatic motor neutron cell bodies

66
Q

What neuronal cell bodies are housed in dorsal horn gray matter of the spinal cord?

A

somatic and visceral sensory neuron cell bodies

67
Q

What neuronal cell bodies are housed in the lateral horn gray matter of the spinal cord?

A

preganglionic visceral motor neuron cell bodies

68
Q

In what section of the spinal cord are lateral horns found?

A

the thoracic (T1-T12)

69
Q

Regarding the spinal cord; what is meant by the acronym DAVE?

A

Dorsal Afferent; Ventral Efferent

70
Q

A motor neuron destined for the body wall or limbs would exit the spinal cord through which root and ramus?

A

Through the ventral root and then the ventral ramus

71
Q

What step of collagen synthesis is dependent on vitamin C?

A

the use of prolyl and lysyl hydroxylases to stabilize collagen and strengthen cross-linking

72
Q

Define gastrulation

A

The process by which the bilaminar disc becomes trilaminar, as well as beginning of morphogenesis

73
Q

The epiblast and hypoblast are derived from what structure?

A

the inner cell mass

74
Q

The hypoblast eventually develops into what structure?

A

the yolk sac endoderm

75
Q

the epiblast eventually develops into what structures?

A

the ectoderm, endoderm, and mesoderm

76
Q

The primitive streak forms on what axis of the embryo?

A

cranial-caudal axis

77
Q

the primitive pit (inside the primitive node) forms at what end of the primitive streak?

A

the cranial end

78
Q

What is secreted by the primitive node to initiate/maintain the primitive streak?

A

nodal

79
Q

Nodal has what role in establishing left-right asymmetry?

A

Nodal activates a pathway upregulating pitx2, and a master gene involved in laterality and lateral plate mesoderm

80
Q

A mutation in what three primary areas will cause a laterality defect in the developing fetus?

A

Mutations in cilia, nodal, or pitx2

81
Q

What is the pathology of primary ciliary dyskinesia?

A

A mutation in dynein causes defective nodal cilia rotation, causing a failure of left-right asymmetry to establish

82
Q

What is the pre-chordal plate?

A

an area formed cranial to the notochord that is important to head organization; it is the source of important molecules like Sonic hedgehog

83
Q

What is formed from paraxial head mesoderm?

A

head muscle and some bone

84
Q

Where does cardiogenic mesoderm orginate?

A

the head; it proceeds cranially rostral to the neural plate

85
Q

What does the paraxial mesoderm give rise to?

A

somites, through which sclerotomes and dermamyotomes are developed

86
Q

What is formed from the intermediate mesoderm?

A

the urinary system and part of the genital system

87
Q

What two divisions develop in the lateral plate mesoderm?

A

somatic and splanchnic mesoderm

88
Q

What develops from somatic lateral plate mesoderm?

A

the inner lining of the body wall, dermis, and part of the limbs

89
Q

What develops from the splanchnic lateral plate mesoderm?

A

coverings for visceral organs and part of wall of viscera

90
Q

What occurs during neurulation?

A

The formation of the neural plate, followed by the neural groove, and closure of the groove to form the neural tube

91
Q

What substance is secreted by ectoderm to block neural plate formation?

A

BMP4

92
Q

How does the notochord initiate formation of the neural plate?

A

at gastrulation, the notochord secretes BMP4 binding molecules around the area of the neural plate

93
Q

Where do neural crest cells come from?

A

between the roof plate of neural tube and overlying surface of ectoderm

94
Q

From the 4th somite, which direction does the closure of the neural tube proceed in?

A

cranially and caudally

95
Q

When does fusion of the neural tube begin?

A

About day 22

96
Q

What is the primary cause of anencephaly?

A

failure of the cranial portion of the neural tube to close

97
Q

Why is myeloschisis so severe?

A

It is characterized by neural tissue exposed to the outside environment

98
Q

What is spina bifida with meningocele?

A

A neural arch defect with a cyst-like sac filled with CSF protruding through the vertebral column

99
Q

What is spina bifida with myelomeningocele?

A

A neural arch defect with part of the spinal cord or nerve roots contained within the meningeal cyst

100
Q

Most neural tube defects can be prevented with maternal intake of what substance?

A

folic acid (vitamin B9)

101
Q

What molecules are important for positional information along the cranial-caudal axis?

A

Hox genes

102
Q

What is contained within the ependymal layer of the neural tube?

A

ependymal cells, which line the brain ventricles and produce CSF

103
Q

What is contained within the ventricular layer of the neural tube?

A

proliferating cells

104
Q

What is contained within the mantle layer of the neural tube?

A

cells that will migrate to form GRAY matter of CNS

105
Q

What is contained within the marginal layer of the neural tube?

A

axons of cells from the mantle layer, that will form WHITE matter of CNS

106
Q

The alar and basal plates are formed from which layer of the neural tube?

A

the mantle layer (now called mantle zones)

107
Q

The alar (roof) plate is responsible for secreting what molecules? What does it eventually develop into?

A

BMPs and Wnt; the dorsal horn

108
Q

The basal (floor) plate is responsible for secreting what molecules? What does it eventually develop into?

A

Sonic hedgehog; the ventral horn

109
Q

What is the effect of normal CFTR in the lumen of the sweat duct?

A

Cl- intake through CFTR activates ENaC to increase Na+ movement into the cells

110
Q

What is the effect of normal CFTR in the airway or gut?

A

Cl- efflux through CFTR inhibits ENaC and limits both Na+ and H2O movement into the cells

111
Q

How are dichorionic diamniotic conditions achieved for twins?

A

division of the morula at 3-4 days

112
Q

How are monochorionic diamniotic conditions achieved for twins?

A

division of the zygote at the early blastocyst state (division of developing ICM only)

113
Q

How are monochorionic monoamniotic conditions achieved for twins?

A

division of the zygote at bilaminar embryo even up to right before gastrulation

114
Q

What are the functions of oligodendrocytes? Where are they found?

A

the maintain neurons and myelinate axons (multiple); they reside in the CNS

115
Q

What are the functions of astrocytes? Where are they found?

A

They contain GFaP, they ensheath synapses, produce growth factors and help capillaries; they reside in the CNS

116
Q

What are microglia? Where are they found?

A

Microglia are CNS macrophages; they can release cytokines and are used for neuronal pruning

117
Q

What are Schwann (satellite) cells? Where are they found?

A

They myelinate neurons (just one section) and share many functions with oligodendrocytes; they are found in the PNS

118
Q

What are radial glia?

A

cells with long radial processes that help guide developing neural cells from the ventricular zones to the mantle zones.

119
Q

What composes a motor unit?

A

a motor neuron and all the muscle cells it stimulates

120
Q

What role does a ryanidine receptor (RyR) have in skeletal muscle contraction?

A

Cell depolarization causes RyR to unplug causing Ca2+ efflux

121
Q

What role does SERCA play in all muscles types?

A

SERCA is response for pumping Ca2+ back into the sarcoplasmic reticulum

122
Q

What is the most common cause of Duchenne muscular dystrophy?

A

Mutations in dystrophin

123
Q

What is the function of the dystrophin protein?

A

to connect skeletal muscle to to the outer membrane and displace force of contraction

124
Q

What is the pathology of Lambert Eaton Syndrome?

A

autoantibody blockage of VGCC decreasing/blocking Ca2+ entry at presynaptic terminal, leading to little/no Ach release into cleft

125
Q

What is the pathology of myasthenia gravis?

A

autoantibodies block/destroy Nm receptors on postsynaptic membrane

126
Q

What follows troponin C binding Ca2+?

A

tropinin moves tropomyosin out of the way so that the myosin head can bind actin

127
Q

What protein primarily makes up thick filaments in skeletal muscle?

A

myosin

128
Q

What protein primarily makes up thin filaments in skeletal muscle?

A

actin

129
Q

What zone/band shortens during the myosin power stroke?

A

the H zone

130
Q

Once ATP binds the myosin head what is released?

A

actin

131
Q

What occurs in order for the myosin head to reach the relaxed position?

A

hydrolysis of ATP

132
Q

What is released from the myosin head in order to trigger the next power stroke?

A

Pi (inorganic phosphate)

133
Q

What are common signs of Grave’s disease?

A

ptosis, heat intolerance, unintentional weight loss, tremors, enlarged thyroid

134
Q

What is a common sign of iodine deficiency?

A

a goiter

135
Q

Define pleiotropy

A

The ability of a single mutation to present with variable phenotypes

136
Q

What is the most common genetic mutation causing sickle cell disease?

A

A missense mutation in beta-globin gene

137
Q

What are the most common genetic causes of beta-thalassemia?

A

Nonsense, frameshift, or splice site mutations in beta-globin gene

138
Q

What is the most common cause of caudal regression syndrome/caudal dysgenesis?

A

defective formation of caudal mesoderm

139
Q

What are 4 common symptoms of caudal regression syndrome?

A

inversion and rotation of lower extremities, anomalies of lumbar/sacral vertebrae, imperforate anus, and agenesis of kidneys and UT

140
Q

What is the most common cause of gastroschisis?

A

failure of lateral folds to migrate and fuse

141
Q

What is the cause of omphalocele?

A

Failure of midgut viscera to return to the abdominal cavity

142
Q

What is embryologic origin of a sacrococcygeal teratoma?

A

the primitive streak

143
Q

How is Hirschprung’s disease characterized?

A

Failure of neuroblasts from neural crest cells to migrate to intestines to form the enteric nervous system

144
Q

What protein needs to be downregulated in order to facilitate an epithelial to mesenchymal transition?

A

E-cadherin

145
Q

What are the two steps of deposition of CT in wound healing?

A

1) Migration
2) Deposition

146
Q

In wound healing, what cell type is seen migrating towards the clot within 24 hours?

A

Neutrophils

147
Q

In wound healing, by day 3 most neutrophils have been replaced by what cell type?

A

Macrophages

148
Q

In wound healing, collagen fibers are first seen in the wound as early as what day?

A

About day 3; collagen deposition can continue for weeks

149
Q

Wound contraction, a feature of healing by second intention, is initiated by formation of a network of what cell type?

A

Myofibroblasts

150
Q

What is the approximate wound strength of a wound healing by first intention after 1 week?

A

10%

151
Q

What is the amount of time that it generally takes for a wound healing by first intention to reach its maximum of 70-80% wound strength?

A

About 3 months

152
Q

Does a complete or partial hydatidiform mole present with some evidence of embryonic development, possibly including fetal blood vessels?

A
152
Q

Does a complete or partial hydatidiform mole present with some evidence of embryonic development, possibly including fetal blood vessels?

A
153
Q

What is the cause of caudal regression syndrome or caudal dysplasia?

A

Defective formation of caudal mesoderm

154
Q

What is the most likely embryonic origin of a sacrococcygeal teratoma?

A

Primitive streak

155
Q

Does skeletal or smooth muscle require phosphorylation to activate ATPase activity?

A

Smooth muscle

156
Q

What happens in smooth muscle once calcium is released from the sarcoplasmic reticulum?

A

Ca2+ binds CaM -> CaM-Ca2+ activates MLCK -> MLCK phosphorylates myosin heads -> Increased myosin ATPase activity

157
Q

What triggers Ca2+ storage release in smooth muscle?

A

Extracellular Ca2+

158
Q

What is the difference in site of antibody activity in myasthenia gravis and lambert-eaton myasthenic syndrome?

A

FOM Final Knowledge Exam (6 decks)

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