Mini 1 - week 1+2 Flashcards

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1
Q

What is cystic fibrosis?

A

A defect in the CFTR protein (12 transmembrane domains) that pumps chloride in and out of the cell that causes chloride to not be pumped out and so water to build up.

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2
Q

What is the path of the vertebral artery? What happens when blood flow is restricted (e.g. atherosclerosis).

A

It is a branch of the subclavian artery, it travels through the C6-C1 transverse foramina, goes medially along the C1 posterior branch and then passes superiorly through the foramen magnum to the brain. In the event of reduced blood flow, prolonged turning of the head can reduce blood flow to the brain.

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3
Q

What is OLDCARTSP?

A

Questions you ask a patient - onset, location, duration, character, associated/alleviating/aggravating factors/symptoms, radiation, timing, severity, and prior episodes.

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4
Q

How do membranes do cell-cell communication?

A

With the carbs attached to their lipids and proteins (glycolipids, glycoproteins).

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5
Q

What is special about aromatic amino acids?

A

They’re somewhat hydrophobic, often found in active sites, participate in stacking interactions with substrates.

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6
Q

Describe primary transcripts.

A

A leader sequence of 1kb or longer (this is recognized by binding proteins that participate in assembly of it into a ribonucleoprotein), long tail sequences that are common in eukaryotes, a capped mRNA, tRNA and rRNA transcripts that are cut into pieces to form individual RNAs.

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7
Q

What is the action of the rhomboid major + minor?

A

Retract and inferiorly rotate the scapula. Fix scapulae to thoracic wall.

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8
Q

What is the role of myosin in a cell?

A

It can move along F-actin or slide one actin fiber past another with the use of ATP. Actin/myosin fibers in not muscle are called stress fibers. Motility by crawling ‘lamellipodium’. - microtubules also involved

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9
Q

What does the superficial layer of the extrinsic back muscles do?

A

It controls the upper limb. It also connects the axial skeleton with the superior appendicular skeleton.

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10
Q

What is whiplash?

A

Severe hyperextension (like the hangman’s) which stretches/tears the anterior longitudinal ligament. There may also be a rebound hyperflexion injury.

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11
Q

How do tetracyclines work?

A

They bind the 30S subunit and block tRNA binding so no protein is synthesized.

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12
Q

What is maltose?

A

alpha1->4 glucose+glucose.

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13
Q

What are the effects of uncompetitive inhibitors? What are some examples?

A

They bind the E-S complex at not an active site, it lowers Km and Vmax. Lithium for inositol monophosphate.

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14
Q

What is the origin and insertion of the infraspinatus?

A

O: Infraspinous fossa I: greater tubercle

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15
Q

What is the blood supply of the latissimus dorsi?

A

The thoracodorsal artery.

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16
Q

What is an oil?

A

A hydrophobic liquid. It can be a hydrocarbon, triglyceride, or fatty acid.

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17
Q

How are tRNAs processed?

A

They are spliced (though differently than mRNA), RNAse P trims the 5’ end until it is left with one phosphate. tRNAse Z trims the 3’ end and then nucleotidyl transferase adds a (nonencoded) CCA.

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18
Q

What is the path of the spinal accessory nerve / CN XI?

A

It goes from the cranium down the neck and back deep to the trapezius. It is relatively superficial and can be easily injured with a blunt or penetrating injury.

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19
Q

What are the stages of change in the transtheoretical model?

A

Pre-contemplation (no intention of changing behaviour), contemplation (aware there’s a problem - no commitment to action), preparation (intent of taking action), action, maintenance, relapse.

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20
Q

What is a lipid raft and what does it have to do with signalling?

A

Aggregations of sphingomyelin, glycolipids, and cholesterol that make sections of the membrane less fluid. Signal transduction in these is more rapid. They also limit signalling by physically sequestering signalling components - block nonspecific interactions and suppress intrinsic activity of signalling proteins. They may also contain incomplete signalling pathways that are activated when a require molecule is recruited into the cell. Integrins are often activated in lipid rafts.

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21
Q

Where is the oxygen removed from ribose to ake deoxyribose?

A

At the 2’ carbon.

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22
Q

What is a back strain?

A

Stretching and/or microscopic tearing of muscle fibers caused by overly strong contraction. Often the erector spinae are involved and spasms may be in response to inflammation. This is a common sports injury.

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23
Q

Describe receptor-ligand kinetics.

A

Similar to enzyme kinetics but with a Bmax and a KD (binding dissociation constant) where 1/KD is the equilibrium constant. RL = Ro [L]/ [L]+KD

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24
Q

What is the Henderson-Hasselbach equation?

A

pH=pKa + log[A-}/{HA]

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25
Q

What does the intrinsic layer of back muscles do?

A

It acts on the axial skeleton only. It acts on the vertebral column to control movements and maintain posture.

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26
Q

What are the BMI ranges?

A

<18.5 (underweight), 18.5-25 (normal), 25-30 (overweight), >30 (obese).

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27
Q

What is a dermatome?

A

A unilateral area of skin innervated by the GSA fibers of a single spinal nerve.

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28
Q

What kind of targeting sequence and proteins are needed for import into nucleus vs export from the nucleus?

A

A positively charged one and a hydrophobic one. NLS/NES. these can be on the cargo itself or on an associated protein. Importins are the receptors for NLS and Exportins for NES. A small GTPase called RAN regulates the binding and release of cargo.

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29
Q

What is a wax?

A

A long chain, hydrophobic branched hydrocarbon. It can be solid, semisolid, or liquid.

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30
Q

What do kinetochore proteins do?

A

Link the mitotic spindle to centromeres.

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31
Q

What is the insertion of the latissimus dorsi?

A

The intertubercular sulcus of the humerus.

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32
Q

What are hydrolases?

A

Use H2O addition to break bonds.

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33
Q

What are the spinal cord meninges and spaces?

A

The epidural space is filled with fat and is between the dura mater and vertebral column. The subdural space is only a potential (pathological) space and is between the dura mater and the arachnoid mater. The subarachnoid space is filled with CSF and is between the arachnoid mater and the pia mater.

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34
Q

Describe the unusual structure of collagen.

A

A high glycine and proline %. A triple helix quaternary structure.

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35
Q

What provides sensory innervation to the back?

A

The cutaneous branches of the posterior rami.

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36
Q

What is the insertion od the deltoid?

A

The deltoid tuberosity of the humerus.

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37
Q

What is ankylosing spondylitis?

A

It is an inflammatory form of spinal arthritis where >1 vertebral and/or sacroiliac joints fuse. It causes a hunched forward appearance and is more common in males than females.

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38
Q

What can alternatively spliced H2A do and what are some examples?

A

It can replace H2B. H2A.Z is associated with promoter/nucleosome free regions. H2A.X is associated with regions undergoing DNA repair and T cell differentiation. Macro H2A is associated with Barr bodies.

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39
Q

What are the levels of health prevention?

A

Primordial, primary, secondary (disease), tertiary (disease+illness), quaternary (illness).

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40
Q

Describe class II nuclear hormone receptors.

A

They exist prebound to DNA. Ligand binding causes the release of co-repressors and the recruitment of co-activator proteins. They are generally heterodimers.

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41
Q

How do aminoglycosides work?

A

They bind the 30S subunit and impair proofreading so there are faulty proteins.

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42
Q

What is a detergent?

A

A natural or synthetic amphipathic compound that acts as a surfactant (forms micelles in water) as a result of its head being bigger than its hydrophobic tail.

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43
Q

Name the three bodily planes that depend on standard anatomical position.

A

Transverse/axial/transaxial - divides body into superior/cephalic/cranial and inferior/caudal. Coronal - divides body into anterior/ventral and posterior/dorsal. Sagittal - divides body into right and left.

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44
Q

What are cytoplasmic inclusions?

A

Transitory, nonmotile, not membrane bound aggregations in the cytosol. They can be common fat droplets, lipofuscin granules, and glycogen rosettes.

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45
Q

What are the effects of suicide inhibitors? What are some examples?

A

They bind outside the active site and reduce Vmax. They do this permanently because it is covalent. Aspirin for COX (makes prostaglandins), Nerve gases for AchE, PPIs (decrease acid secretion in the stomach), Penicillin type antibiotics for enzymes that make cell walls. They resemble serine proteases and are very slow cleavable substrates.

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46
Q

What does glycolysis make?

A

Pyruvate from glucose.

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47
Q

What are the IOM’s Aims for Improvement?

A

Safe, Timely, Efficient, Effective, Equitable, Patient-centered.

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48
Q

How is DNA packaged?

A

146bps wrap 1.67 times around a nucleosome octamer, which tightens by H4 deacetylation into a 30nm Toroid.

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49
Q

What happens when light goes into your eye?

A

Cis-retinal absorbs light and isomerizes to trans-retinal. This causes a conformational change in rhodopsin. Gt (transducin) is activated, the alpha subunit bound to GTP activates phosphodiesterase. PDE converts cGMP to GMP. This causes the closure of CNG channels (that cGMP usually keeps open) which results in membrane polarization.

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50
Q

What are the purines and what are the pyrimidines and which are two rings?

A

Purines are two rings and they are A and G. Pyrimidines are C, T, and U.

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51
Q

What is the general structure of a glycerol phospholipid?

A

2 fatty acids plus a head (can be attached to a phosphate). The middle fatty acid is usually unsaturated. Common heads are ethanolamiine, choline, serine, inositol.

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52
Q

What’s an oxyanion hole for?

A

It has a backbone/sidechains that interacts with the carbonyl of the peptide bond and helps stabilize the tetrahedral intermediate.

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53
Q

What are the types of repetitive DNA? And how much of the genome is repetitive DNA?

A

Transposons (generally defunct retroviruses) - have inverted repeats, LINEs and SINEs (derived from retroviral integration or transposable elements), and other repetitive DNA found in telomeres, centromeres, micro and mini satellites. About 52% of the genome.

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54
Q

What is a lipid?

A

A natural, nonpolar (or amphipathic) molecule that stores energy, makes up membranes, vitamins, and does signalling. Includes waxes, oils, fat, detergents.

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55
Q

What is the facet/zygophasial joint?

A

Joint between two one vertebra’s superior articular facet (on articular process) and another’s inferior one.

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56
Q

What is the action of teres minor?

A

Lateral rotation

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57
Q

What are ribosomes made of?

A

40S SSU (1rRNA + 33 proteins), and 60S SSU (3rRNA + 40 proteins).

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58
Q

Describe the costal facets of the thoracic vertebrae.

A

The superior and inferior ones articulate with the head of the rib, and the transverse ones (on the edge of the transverse processes) articulate with the costal tubercle.

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59
Q

Where is glycogen stored? Where does gluconeogenesis take place?

A

Liver and muscle. Liver and a little bit kidney.

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60
Q

When does mRNA bind an NES?

A

Only when it’s finally processed.

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61
Q

What is a crush/compression fracture?

A

A fraction of the body due to a sudden forceful flexion. It can be accompanied with the dislocation/fracture of the articular facets between two vertebrae and/or the rupture of interspinous ligaments.

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62
Q

How are microtubules and actin involved in mitosis?

A

Actin/myosin make up the contractile ring. The + ends of microtubules plug into centrosome kinetochores (mitotic spindle).

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63
Q

What is the action of the infraspinatus?

A

Lateral rotation of the arm and to stabilize the glenohumeral joint.

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64
Q

What is the origin and insertion of the supraspinatus?

A

O: supraspinous fossa I: greater tubercle

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65
Q

Describe pre-initiation of translation.

A

In the nucleus, elongation factors bind pre-mRNA shortly after its binding site is synthesized, and additional elongation factors and the small subunit of the ribosome are recruited. The met-tRNA binds, and this all exits once the mRNA is fully matured.

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66
Q

What is the innervation of the supraspinatus?

A

the suprascapular nerve (C5).

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67
Q

What does colchicine treat and how?

A

Gout is uric acid crystals depositing in joints and swelling, attracting leukocytes, and swelling more. Colchicine prevents white blood cells from migrating there by counteracting microtubule action in crawling.

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68
Q

List the extrinsic superficial back muscles and their innervations.

A

Trapezius (descending, middle, ascending head) - CN XI. Latissimus dorsi - thoracodorsal nerve (C6-8). Levator scapulae, rhomboid major, rhomboid minor - dorsal scapular nerve (C5). Rhomboids separate branch than levator.

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69
Q

How do enhancers and repressors work?

A

Both can rearrange the nucleosome to expose or cover the promoter region. Enhancers usually bind the DNA and then additional proteins which recruit TFs and RNA polymerase. Repressors can themselves block the DNA binding site.

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70
Q

How many vertebral bodies are there?

A
  1. 7 cervical, 12 thoracic, 5 lumbar, 5 sacral (fused), and 4 coccygeal (fused after age 30).
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71
Q

What and where is the cauda equina?

A

The bottom of the spinal cord where nerves begin to taper out and travel to the intervertebral canal exit. It is surrounded by a dural sac.

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72
Q

What is the action of the erector spinae group?

A

They extend the vertebral column, give some rotation tot he vertebral column, and act on the vertebral column to control movements and maintain posture.

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73
Q

What is Hutchinson-Gilford progeria caused by?

A

Lamin A.

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74
Q

What are the secondary spinal curves?

A

The newborn spine is kyphotic. Lordosis forms in the cervical and lumbar vertebrae with the child starts holding her head up and standing respectively.

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75
Q

What is the insertion of teres major?

A

The medial lip of the intertubercular sulcus.

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76
Q

Describe intermediate filaments.

A

Toughest one, rope structure, can survive cell death. They’re less dynamic.

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77
Q

What’s a way to treat lumbar stenosis?

A

Decompressive laminectomy.

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78
Q

What are oxidoreductases?

A

They facilitate redox chemistry, often need FAD or NAD as a cofactor. If they need NAD they are dehydrogenases.

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79
Q

Describe the blood flow to the scapular/upper arm region.

A

The subclavian artery branches into the dorsal scapular, axillary, and thyrocervical trunk (transverse cervical and suprascapular artery). The axillary continues down and branches into the subscapular and circumflex arteries, and the subscapular branches into the thoracodorsal. The thoracodorsal, circumflex, and subscapular all connect to the dorsal scapular from the other direction. Also there are posterior intercostal arteries coming into the dorsal scapular.

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80
Q

What is a hangman’s fracture?

A

Abrupt hyperextension of the neck breaks the pedicles of C2 posterior to the superior articular facets.

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81
Q

What is a fat?

A

A hydrophobic solid. Usually a triglyceride.

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82
Q

What is the difference between cilia and flagella?

A

Flagella are (~60um), cilia (2-5um). You can have multiple cilia but only one flagellum. Cilia are in the respiratory tract, fallopian tubes, and move around the cerebrospinal fluid in the brain.

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83
Q

What is the insertion of the trapezius?

A

The acromion and spine of the scapula.

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84
Q

What’s the size of a nucleus?

A

Aout 8 um.

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85
Q

Where are many actin-binding proteins located?

A

Right under the plasma membrane (and so, so is most F-actin).

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86
Q

If a particular disc is herniated, which nerve will be affected?

A

The nerve going through that foramen except in the case of lumbar where it is the one above that foramen.

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87
Q

What happens in the case of a posterolateral disc herniation?

A

It may spare the nerve at the level of injury but affect the one inferior.

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88
Q

Describe the arterial blood supply of the spinal cord.

A
  • 1 anterior spinal artery that branches from the vertebral artery - 2 posterior spinal arteries that arise directly or indirectly from vertebral arteries These are reinforced by radicular arteries, branches of segmental arteries, ascending cervical arteries, deep cervical arteries, posterior intercostal arteries, lumbar arteries, and sacral arteries.
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89
Q

Does the nucleolus have a membrane?

A

No.

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90
Q

How can a GPCR signal be terminated?

A

Ligand unbinding. Self-GTP hydrolysis. Endocytosis (sequestered and eventually returned or degraded in the lysosome). When the ligand dissociates, GRK phosphorylates the protein and arrestin binds and block further signalling.

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91
Q

What is special about OH-containing amino acids?

A

They are structural, engage in H-bonding, often found in active sites. The OH can be phosphorylated or glycosylated.

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92
Q

What is the rotator cuff made of?

A

The supraspinatus, infraspinatus, teres minor, and subscapularis.

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93
Q

How are axons organized?

A

Into fascicles, which make up peripheral nerves. In the CNS, groups of axons are called tracts.

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94
Q

Describe the unusual quaternary structure of Cu, Zn superoxide dismutase.

A

It has a dimer (16,000Da monomer). Each of its subunits have 8 antiparallel beta sheets in a barrel.

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95
Q

What is the action of the deltoid?

A

Abducts the arm >15 degrees.

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96
Q

What are the four most abundant phospholipids?

A

Phosphotidylcholine, sphilgomyelin (also a choline head but a sphingosine backbone not glyerol), phosphotidylserine (the only negatively charged phospholipid), and phosphotidylethanolamine.

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97
Q

Which joint is for nodding your head and which is for shaking?

A

Atlanto-occipital and atlanto-axial.

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98
Q

How does glucagon affect glycogen?

A

Glucagon binds a G protein receptor, and it releases GDP and binds GTP, and then the alpha subunit bound to GTP comes off. This activates adenylate cyclase which makes cAMP. cAMP binds PKA which is activated and phosphorylates glycogen phosphorylase kinase which phosphorylates glycogen phosphorylates which degrades glycogen to G1P.

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99
Q

What is the innervation of the deltoid?

A

The axillary nerve (C5-6).

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100
Q

What forces are present in protein tertiary structure?

A

H-bonds, ionic bonds, van der waals forces, disulfide bridges (the only covalent interaction - will not be hurt by denaturing agents but can be broken by reducing agents like glutathione) or oxidizing agents.

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101
Q

What is the innervation of the serratus anterior?

A

The long thoracic nerve (C5-7).

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102
Q

What are the kinds of membrane proteins?

A

Integral (which a detergent is needed to remove) and peripheral (which can be removed by a high salt rinse).

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103
Q

What is the insertion of the levator scapulae?

A

The medial border of the scapula - superior to the root of the scapular spine.

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104
Q

What are ligases?

A

They catalyze formation of various bonds.

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105
Q

What are the mechanisms catalysts use?

A

Substrate (or group) specificity, bind/stabilize transition state, provide covalent chemistry by orienting substrate and enzyme, providing acid/base chemistry.

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106
Q

How do chloramphenicol, macrolides, and lincosamides work?

A

They bind the 50S subunit to prevent peptide bond formation so there is no protein synthesis.

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107
Q

What muscles make up the suboccipital triangle? What margins do they make up?

A

Rectus capitis posterior major - superomedial. Obliquus capitis inferior - inferolateral. Obliquus capitis superior - superolateral. The greater occipital nerve (C2) is inside the triangle.

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108
Q

What is the structure of a telomere?

A

TTAGGG with shelterin protecting the ends. The last 300bps form a D-loop The loss of telomeres creates sticky ends tahat are hotspots for DNA repair and recombination.

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109
Q

What are the mechanisms of bringing things into the cell?

A

Phagocytosis, pinocytosis, and receptor mediated endocytosis (usually by clathrin-coated pits).

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110
Q

What are the sources and fates of Acetyl CoA?

A

Sources: pyruvate, fatty acids (beta-ox), ketone bodies Fates: TCA, fatty acid synthesis, ketone body production

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111
Q

What is the blood supply of rhomboid major and minor?

A

The dorsal scapular artery.

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112
Q

What is special about acidic amino acids?

A

They are often sites for protein modifications.

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113
Q

Describe the venous drainage of the spinal cord.

A

3 anterior and 3 posterior spinal veins that communicate with each other and drain into the anterior and posterior medullary veins. They join the internal vertebral/epidural plexus (valveless) and communicate with the dural sinuses and then the vertebral veins. They also communicate with the external vertebral plexii on the external aspect of the vertebrae.

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114
Q

What muscles does the suboccipital nerve (C1) innervate?

A

rectus capitis posterior major/minor and obliquus capitis superior/inferior.

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115
Q

What are the effects of competitive inhibitors? What are some examples?

A

Binds the active site and increases Km. Statins (e.g. pravastatin competes with HMG-CoA for HMG-CoA reductase). Methanol for alcohol dehydrogenase (converts to formic acid and formaldehyde).

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116
Q

What is the blood supply of the levator scapulae?

A

The dorsal scapular artery.

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117
Q

Where do the R groups project in beta sheets? What are examples of beta sheet containing proteins?

A

They alternate up and down. Often to avoid the ‘edge effect’ they form barrels. Porin and IgG.

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118
Q

List the intrinsic back muscles.

A

The paraspinous muscles and the erector spinae group.

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119
Q

What and where is the lumbar cistern?

A

An enlargement of subarachnoid space between the conus medullaris and the end of the dural sac around S2. Around L4 through this is where you do spinal anaesthesia or a lumbar puncture.

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120
Q

What is the Michaelis-menten equation?

A

Vo=Vmax

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121
Q

What do the different RNA polymerases transcribe?

A

RNA Pol I: rRNA (in the nucleolus) RNA Pol II: mRNA RNA Pol 3: tRNA

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122
Q

What is Karteneger syndrome?

A

Primary cilia dyskinesia. An autosomal recessive disease, lack of axonemal dynein in motile cilia. causes reduced/absent mucus clearance from the lungs and male infertility.

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123
Q

Describe starch, glycogen, and cellulose.

A

glucose polysaccharides. Starch is amylose (linear alpha1->4) and amylopectin (also has alpha1->6 branches). Glycogen is the same as amylopectin but has more branches. Cellulose is beta1->4 and we cannot break this down.

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124
Q

What does the intermediate layer of the extrinsic back muscles do?

A

It controls only the axial skeleton. It helps with respiratory and proprioceptive movements (and the serratus posterior muscles)?

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125
Q

What are the fates of pyruvate?

A

Acetyl CoA, oxaloacetate, alanine (for nitrogen transport). Also lactate in anaerobic fermentation and ethanol in some microorganisms.

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126
Q

Describe the venous drainage to the vertebal column.

A

The spinal veins form internal and external venous plexii. Both the external and internal plexii have anterior and posterior components, and the internal plexii is valveless (a potential path for metastasis). There are also basivertebral veins within the vertebral bodies. They all end up draining into the vertebral veins.

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127
Q

Where do the R groups project in alpha helices? What are examples of alpha-helix containing proteins?

A

They project out. Hemoglobin and rhodopsin (7 TM alpha helices, one kinked with a proline)

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128
Q

What are the ACGME (Accreditation Council on Graduate Medical Education)’s general competencies?

A

Systems-based practice, professionalism, interpersomal & communication skills, patient care, practice-based learning and improvement, medical knowledge.

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129
Q

Describe somatic sensory nerve signaling.

A

A sensory/GSA type axon travels in the spinal nerve and reaches the dorsal root. Then it becomes a tract in the spinal cord and reaches the brain.

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130
Q

What are transferases?

A

They move a functional group from one molecule to another.

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131
Q

How fast does DNA replication occur?

A

2000nt/sec.

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132
Q

Describe class I nuclear hormone receptors.

A

They exist in the cytoosol bound to HSP90. When the ligand binds, the alpha helix flips, releases HSP90, the receptor dimeries into a homodimer and translocates to the nucleus.

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133
Q

Briefly go over fatty acid synthesis in the liver. Where does it get its ATP?

A

AcCoA -> FAs which combine with glycerol phosphate to make triglycerides which are then packaged into VLDLs. It gets its ATP from the pentose phosphate pathway / hexose monophosphate shunt.

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134
Q

Where is spina bifida occulta seen?

A

In L5 and/or S1.

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135
Q

What are the differences between arteries and veins?

A

Arteries go from the heart to capillary beds, and veins go the other way. Arteries carry oxygen rich blood, veins carry deoxygenated blood. Arteries are thick walled and have a lumen and veins are thin walled and lumenless.

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136
Q

What are glycoproteins involved in?

A

Regulation of folding/structure.

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137
Q

What are groups of neuronal cell bodies called?

A

In the CNS, nuclei. In the PNS, gangia.

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138
Q

What does insulin do?

A

It upregulates glucose use by all tissues, upregulates GLUT4 release in adipose tissue and skeletal muscle, activates LPL in adipose tissue, promotes anabolism.

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139
Q

How do you recognize the atlas?

A

It has no body and a transverse ligament.

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140
Q

How do cells attach to their surroundings?

A

With integrins. Integrins are made up of alpha and beta subunits - one cell can have multiple integrins on its surface. Once an integrin is activated, it sends signals about the status of the ECM which can control tissue specific gene expression or release it if its in the wrong place - which can trigger apptosis. Integrin activation often occurs in lipid rafts.

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141
Q

What is the blood supply of the trapezius?

A

The transverse cervical artery.

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142
Q

What is the difference between trimeric G proteins and small G proteins?

A

Small ones are monomeric and do not have intrinsic hydrolysis activity. They need a GTPase accelerating protein (GAP) specific for it to hydrolyze GTP.

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143
Q

What is coccydynia?

A

Coccyx pain from injury, childbirth, straining.

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144
Q

How does taxol work?

A

It is an anti microtubule drug, and because it’s needed to form the mitotic spindle the cell arrests and hopefully apoptoses.

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145
Q

What is the action of the trapezius?

A

Descending head - elevation of the scapula. Ascending head - depression of the scapula. D+A=superior rotation of the scapula. Middle head - retraction of scapula.

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146
Q

What is the origin and insertion of the subscapularis?

A

O: subscapular fossa I: lesser tubercle

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147
Q

What can alternatively spliced H3 do and what are some examples?

A

It can alter packing. H3.3 is found in euchromatin and H3 CENPA anchors the nucleosome to the centromere.

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148
Q

What is a back sprain?

A

Only ligamentous tissue is involved; no dislocation or fracture. It comes from strong contractions related to movement of the vertebral column.

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149
Q

Describe the somatic motor pathway.

A

It is a 2 neuron system. First, a UMN in the primary motor cortex sends a signal down a GSE axon axon to a LMN in the ventral horn. Then the LMN sends a signal down the ventral root to a peripheral spinal nerve, which eventually innervates a muscle.

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150
Q

What is the difference between a dermatome and cutaneous nerve areas?

A

The cutaneous nerve supplies an area of sin related to a peripheral nerve and can contain fibers from several individual spinal nerves. Its areas overlap with dermatomes and are generally broader and wider than a single dermatome.

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151
Q

Decribe the structure of cilia and flagella.

A

Microtubules in a 9+2 array of tubulin dimers, nucleated by a basal body. They contain axonemal dynein.

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152
Q

What is the general structure of a phospholipid? Where are the major classes synthesized?

A

Glycerol backbone, phosphate head, two fatty acid tails, one saturated and one unsaturated. The major classes are synthesized in the SER.

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153
Q

What are the effects of noncompetitive inhibitors? What are some examples?

A

They bind outside the active site and reduce Vmax. G6P for hexokinase. NNRTIs for reverse transcriptase.

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154
Q

What and where is the filum terminale?

A

It continues down from the conus medullaris and tethers the spinal cord to the coccyx.

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155
Q

What are lymphatics?

A

They drain surplus tissue fluid/leaked plasma proteins/remove debris. They regulate the interstitial fluid. They follow vein pathways.

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156
Q

What is the structure of NAD/FAD?

A

a base + a ribose/ribitol + a phosphate in a dinucleotide structure. The nicotinamide/flavine bases are made from niacin (B3) and riboflavin (B2). NAD is usually soluble and has more redox potential than FAD, which is typically bound as a substrate?

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157
Q

What is a denticulate ligament?

A

It anchors the spinal cord to the dura mater at the midpoint between two spinal nerves.

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158
Q

When is a buffer strongest/weakest?

A

strongest: pH=pKa weakest: pH=pI

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159
Q

What is the action of the supraspinatus?

A

It abducts the arm 0-15 degrees. It also stabilizes the glenohumeral joint.

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160
Q

What is special about branched chain amino acids?

A

Amino group is sent to pyruvate to make alanine, and the carbons are sent to TCA.

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161
Q

What is the action of the subscapularis?

A

Medial rotation of the arm.

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162
Q

How many dermatomes are there?

A
  1. 7 cervical (C1 doesn’t have one, it’s just motor), 12 thoracic, 5 lumbar, 5 sacral, 1 coccygeal.
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163
Q

What is the RNA template for telomerase and what is the telomere sequence?

A

CCCUAA TTAGGG

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164
Q

What is the innervation of the subscapularis?

A

The upper and lower subscapular nerve (C5-6).

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165
Q

Describe the average transmembrane protein domain.

A

20 amino acids in an alpha helix.

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166
Q

Describe actin fibers.

A

From the greek “ray”, or “beam”. Present in all cells, usually 50% as free subunits (G-actin) and 50% as filaments (F-actin). F-actin is a 2 stranded helix with a + and - end. It’s added onto the + end bound to ATP and added onto the - end bound to ADP.

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167
Q

What is important about chondroitin-sulfate repeats?

A

They provide a lot of negative charge to sugar chains that keeps them hydrated and apart and provides connective tissue elasticity.

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168
Q

What is the innervation of teres major?

A

The lower subscapular nerve (C6).

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169
Q

What does TCA make?

A

CO2 from Acetyl CoA (which is made from pyruvate by PDH).

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170
Q

When is initiation of transcription complete?

A

When RNA is over ten bases long or (if it is destined to become mRNA) the RNA is capped.

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171
Q

What do nuclear lamins do?

A

They provide an attachment site for chromatin to the nuclear envelope and control nuclear envelops disassembly.

172
Q

What is a chance fracture?

A

It is an anterior crush fracture and also fractures along the transverse processes of the vertebra.

173
Q

What is the path of the dorsal scapular nerve?

A

It goes down the neck and along the medial border of the scapula then emerges between the anterior and middle scalene muscles/

174
Q

What is the resolution in light microscopy and electron microscopy?

A

LM: 0.2um EM: 0.2nm

175
Q

What is the path of the spinal nerves?

A

They emerge laterally from the intervertebral foramina and divides into anterior and posterior branches.

176
Q

What does carbonic anhydrase do?

A

Facilitates the dissolution of carbon dioxide in water (CO2 needs to be hydrated to move more easily in blood). It is a metalloenzyme (Zn cofactor).

177
Q

What are lyases?

A

They catalyze damage of C-C, C-O, C-N, C-S, C-halide, P-O bonds.

178
Q

Go over the three kinds of amino acid in terms of metabolism.

A

Ketogenic - feed directly into Acetyl CoA. Glucogenic - feed into pyruvate/replenish TCA, be gluconeogenesis precursors Urea cycle - amino group is converted with CO2 into urea

179
Q

What are glycolipids involved in?

A

Immune recognition and physical barriers.

180
Q

What is the thickness of a membrane?

A

7.5-10nm.

181
Q

What’s the general formula for carbohydrates?

A

CxH2xOx

182
Q

Describe synaptic signalling.

A

A chemical signal released from a synaptic terminal that travels short distances to affect electrical signalling in adjacent cells.

183
Q

What’s a ganglioside?

A

A ceramide(lipid)+branched sugars

184
Q

What pH optima do stomach, lysosomal, and cytosolic enzymes have (vaguely)?

A

Low, higher but below neutral, usually near 7.

185
Q

What and where is the conus medullaris?

A

The ending point of the spinal cord around L1/L2. In neonates, it is L3/L4.

186
Q

What is sucrose?

A

alpha1->2 glucose+fructose

187
Q

Describe nuclear hormone receptors.

A

They modify gene transcription by recruiting TFs in response to a variety of hydrophobic hormones (e.g. cortisol, thyroxine, testosterone, estradiol, Vitamin A (retinoic acid), Vitamin D3 (calcitriol).

188
Q

How any pairs of spinal nerves are there and where do they course.

A
  1. 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, one coccygeal. The cervical ones course superior to their vertebra (C8 above T1 vertebra), and the others course inferiorly.
189
Q

What is the IQR?

A

The interquartile range between 25% and 75% values.

190
Q

What is an uncinate process?

A

A bony lip around the rim of vertebrae C3-T1. If it grows osteophytes, it can compress the nerves and arteries with a ‘mini stroke’.

191
Q

Describe cholesterol, and where is it made. Where is it in the membrane? Do plants have it?

A

Small polar head group, one fatty acid tail. When it is warm, it stiffens the membrane - makes it less deformable and decreases permeability to small polar molecules. When it is cold (which doesn’t happen physiologically), it prevents tight packing and maintains membrane fluidity. It is a precursor for most steroid hormones. It is made on the SER. It is distributed equallly among the membrane. Bacteria and plants do not have it - plants have similar phytosterols that the human gut cannot absorb.

192
Q

How does CREB work?

A

PKA caused by a Gs activate CREB which causes CBP to bind CREB. This complex binds CRE (cAMP response element) which results in transcription.

193
Q

What are the spaces of the scapulary/arm muscles?

A

Triangular - circumflex scapular artery. Quadrangular - axillary nerve and posterior circumflex humeral artery. Triangular interval - radial nerve and deep artery of the arm.

194
Q

What is a burst/Jefferson fracture?

A

4 breaks in C1 in the anterior and posterior arches. It comes from strong compression on the top of the head which drives the occipital condyles into the lateral masses of C1.

195
Q

Which vertebra has a vertebra prominens?

A

C7.

196
Q

What are the start and stop codons?

A

start:AUG stop: UAA/UGA/UAG

197
Q

What are the surfaces of the hands and feet called?

A

Hands and feet have their own bodily planes. The top of the feet and back of the hands are called dorsal. The palm surface is called palmar and the sole surface is called plantar.

198
Q

List the extrinsic intermediate back muscles.

A

The serratus posterior superior and inferior.

199
Q

How do hydrophilic and hydrophobic signals get into the cell?

A

Through membrane receptors and by diffusing through the membrane respectively.

200
Q

What are the books the IOM wrote?

A

To Err is Human (1999) and Quality Chasm (2001)

201
Q

What are flexion and extension?

A

They decrease the angle and increase the angle between bodily parts respectively.

202
Q

What is the action of serratus anterior?

A

Abduction of the arm and protraction of the scapular.

203
Q

What are the types of intermediate filaments?

A

Keratins (epithelial cells), neurofilaments (nerve cells), vimentin (CT, muscle, glia), nuclear lamins (all cells). The type can tell you where a cancer cell originated from.

204
Q

Where is heterochromatin?

A

It lies against the nuclear envelope in patches but is broken at the site of NPCs.

205
Q

Where do you do an epidural?

A

Around L4 in the lumbar cistern or in the sacral hiatus. You do it in the epidural space.

206
Q

What is a disc herniation? Where does it most frequently happen?

A

The nucleus pulposus slipping out and compressing the spine. It happens mostly posterolaterally, the risk increases with age, and most commonly it is at L4/L5 and L5/S1.

207
Q

What goes through NPCs?

A

Nuclear poree complexes. Cell ions, small metabolites, proteins under 40kDa.

208
Q

What does creatine kinase do?

A

Store energy in creatine phosphate.

209
Q

What is lactose?

A

beta1->4 glucose+glactose.

210
Q

What is the innervation of teres minor?

A

The axillary nerve (C5-6) terminal branch.

211
Q

Name the ligaments of the vertebral column.

A

Anterior&posterior longitudinal ligaments - surround the vertebral bodies, A is broader than P, prevent hyperextenson/flexion. Ligamentum flavum - connects the laminae, is yellow and elastic and limits flexion. Nuchal ligament - thick and broad from the external occipital protuberance to the C7 spinous process. It lets the back muscles attach. Intertraverse, interspinous, and supraspinous ligaments. Supraspinous takes over for nuchal from C7 downwards.

212
Q

What are the components of the replisome?

A

RNA Pol alpha/Primase, RNA Pol delta (replicates the lagging strand, binds polalpha, FEN1, ligase), RNA Pol epsilon, RNA Pol beta/PCNA/Sliding clamp (trimeric, brings pols delta and epsilon), FEN1 (removes RNA primers), and SSB/Replication Protein A (RPA).

213
Q

What is the structure of microtubules? What do they do?

A

Dimers of alpha and beta tubulin that form a hollow microtubule. They grow and shrink at the + end, add on by GTP-bound, fall off as GDP-bound. Often assisted by MAPs. They determine the position of organelles and provide tracks for cellular transport.

214
Q

What is a caveola?

A

Caveolae are when lipid rafts are coated with caveolin and form an organelle that is capable of transcytosis. It is abundant in all cells lining blood vessels.

215
Q

What is the action of the levator scapulae?

A

Elevates the scapula. Inferior rotation of the glenoid cavity.

216
Q

What is the action of the paraspinous muscles?

A

They act on the vertebral column to control movements and maintain posture.

217
Q

What is the axial skeleton?

A

The cranium, vertebral column, manubrium, sternum, and ribs. Everything else is the appendicular skeleton.

218
Q

Where are rRNAs made? And how?

A

In the nucleolus. Nuclear imported ribosomal proteins assemble around the rRNAs in the nucleolus. The subunits are exported to the cytoplasm.

219
Q

What are the innervations of the extrinsic and intrinsic muscles of the back (broadly)?

A

Extrinsic - anterior rami of spinal nerves and CN XI. Intrinsic - posterior rami of spinal nerves.

220
Q

What muscles do ipsilateral head rotation?

A

Obliquus capitis inferior Rectus capitis posterior (major and minor) Longissimus capitis Splenis capitis

221
Q

How many proteins are not translated in ribosomes?

A
  1. They’re translated in the mitochondria.
222
Q

How do things move along the microtubules?

A

With motors - kkynesin toward the + end and dynein toward the - end.

223
Q

How can you identify a cervical vertebra?

A

It has transverse foramina.

224
Q

What is the action of the serratus posterior superior and inferior?

A

They control respiratory and proprioceptive movements.

225
Q

What are the general mechanisms of the serine proteases?

A

Chymotrypsin: cleaves peptide after aromatic residues, small side chain that lets large hydrophobic residues bind. Trypsin: cleaves after Lys and Arg, has a negative side chain that binds with a positive side chain of the substrate. Elastase: cleaves Gly, Val, Ala, has small hydrophobic side chains that interact with also phobic residues in the substrate.

226
Q

How long are telomeres?

A

3-20kb, once its under 1kb the cell goes into senescence (permanen G0).

227
Q

What are deep posterior neck muscles responsible for?

A

Extension and lateral flexion.

228
Q

What is the innervation of the infraspinatus?

A

The suprascapular nerve (C5).

229
Q

What muscles do contralateral head rotation?

A

Sternocleidomastoid Semispinalis capitis

230
Q

What is the insertion of the serratus anterior?

A

The anterior surface of the medial border of the scapula.

231
Q

What are the palpable structures on the back?

A

Vertebra prominens (C7) Scapular spine (T4) Medial border of scapula Inferior angle (T7/T8) Iliac crest (L4) Posterior superior iliac spine Acromion Greater tuberosity Ribs 6-12 Anterior superior iliac spine Sacrum Greater trochanter Ischial tuberosity

232
Q

How do cells attach to each other?

A

With Cadherin (calcium dependent). Cells of the same type express the same cadherin. cadherins form desmosomes which link to intermediate filaments and hold cells.tissue layers together.

233
Q

What is the Michaelis-menten equation?

A

Vo=Vmax [S] / Km + [S]

234
Q

What are the intrinsic shoulder muscles? Also kind of serratus anterior.

A

The supraspinatus, infraspinatus, deltoid, teres major and minor, and the subscapularis.

235
Q

What is the inertion of teres minor?

A

The greater tuberce.

236
Q

What is the action of the latissimus dorsi?

A

Extends, adducts, medially rotates the humerus. Lifts the body when climbing.

237
Q

What is the action of teres major?

A

Adduction and medial rotation.

238
Q

What increases membrane fluidity?

A

Increased temperature and unsaturation.

239
Q

What is a MTOC?

A

AKA a centrosome, it is where microtubules grow out of. It is on one side of the nucleus under the golgi. It is made of two centrioles at right angles to each other, surrounded by a cloud of proteins (periocentriolar material). It caps the microtubule - ends near the nucleus in interphase cells and at the spindle poles in mitotic cells. The gamma-Turc in the pericentriolar material nucleates/provides the start for the tubules to grow.

240
Q

Which polymerases bind PCNA?

A

Trick question, they all do - but pol beta is always found with it.

241
Q

What if eEF2 does not have GTP?

A

Translation cannot proceed.

242
Q

How does the replication complex assemble?

A

CDK and DDK are phosphorylated, which phosphorylates cdc6. It leaves and cdc45 joins - forming the initiation complex. The GINS complex then comes in and binds the ORIs and maintains the replication fork. RPC leads PCNA onto DNA at the origin and for each okazaki fragment.

243
Q

What is the sequence of an intron?

A

A 5’GU then later an A upstream from several pyrimidines, then AG 3’.

244
Q

What kind of drugs are the first line of defense for bacterial infections?

A

Anti-cell wall drugs.

245
Q

What is Acyclovir?

A

A ddGTP that treats short-term viruses like HSV and VSV. It treats HIV along with AZT (zidovuzine) that blocks reverse transcriptase.

246
Q

Where are enhancers? Can you have more than one enhancer per gene?

A

Upstream of the RNA-Pol binding site (up to 10kb upstream). Yes.

247
Q

What is the typical effect of hormonal regulation?

A

Typically, to upregulate genes.

248
Q

What part of RNA Pol II is important for transcript maturation?

A

The C-terminus.

249
Q

How does vitamin D3 work?

A

It and its receptor complex upregulates the calbidin expression to elicit increased uptake of calcium by the intestines.

250
Q

How does polio work?

A

It is a (+)ssRNA virus. The 5’ end of its RNA has IRES structure which recruits the host 40S SSU preferentially to its own.

251
Q

How does ricin work?

A

It is lecithin from castor beans (lethal at 1mg/kg) that breaks the glycosidic bond of A4324 in the 28S RNA.

252
Q

What is A4324

A

Part of the 28S RNA in the large subunit that is required for elongation factor binding.

253
Q

How does the diptheria toxin work?

A

The C-term of the A subunit (processed in the endosome and released in the cytosol) ADP-ribosylates eEF2 and so it cannot catalyze GTP.

254
Q

What is the structure of the diptheria toxin?

A

A dimer if from Corynebacterium diptherium or a monomer from Pseudomonas aeruginosa.

255
Q

What arises from the brachiocephalic trunk?

A

The subclavian artery from which emergent he vertebral artery (moves superiorly), and the internal thoracic artery (which goes inferiorly), and the rest of the branches of the subclavian.

256
Q

Where is the angle of Louis?

A

Around the 2nd rib - at T4/T5.

257
Q

What are the fascia of the breast/pectoral region?

A

Deltoid, Axillary, Pectoral, Clavipectoral.

258
Q

What is the action of pec major?

A

The clavicular head flexes the humerus, the sternocostal head extends it from the flexed position. Both heads adduct and medially rotate.

259
Q

What is the innervation of pec major?

A

The lateral + medial pectoral nerve (C5-7).

260
Q

What is the action of pec minor?

A

It stabilizes the scapula against the thoracic wall.

261
Q

What is the insertion of pec minor?

A

The coracoid process?

262
Q

What is the innervation of the pec minor?

A

The medial pectoral nerve (C8-T1).

263
Q

What is the action of the subclavius?

A

It anchors and depresses the clavicle.

264
Q

What is the innervation of the subclavius?

A

Nerve to subclavius (C5-6).

265
Q

What is the orientation of the fascia of the breast/pectoral region?

A

The pectoral becomes the axillary laterally. The clavipectoral is continuous with the axillary. The deltoid is continuous with the pectoral anteriorly.

266
Q

Where is a clavicular fracture most common?

A

At the junction of the middle and lateral 1/3 of the clavicle. The subclavian vein is just deep to the clavicle, can be affected.

267
Q

Describe the drainage into the subclavian vein.

A

The basilic and brachial veins join into the cephalic vein, which joins with the axillary vein and goes into the subclavian.

268
Q

Where does the nervous innervation to the breast come from?

A

The anterior and lateral cutaneous branches of the 4-6th intercostal nerves.

269
Q

What is the dermatome of the nipple?

A

T4.

270
Q

What is polythelia?

A

Extra nipples.

271
Q

What’s the retromammary space?

A

The space between breast and pectoral fascia.

272
Q

What are the parenchyma?

A

At puberty, the lactiferous ducts form 15-20 lobules of mammary glands, which constitute the parenchyma.

273
Q

What’s inside the breast?

A

Secretory ligaments, fat, and suspensory ligaments holding it up.

274
Q

What is the blood supply of the medial mammary?

A

The internal thoracic artery.

275
Q

What is the blood supply of the lateral mammary?

A

The lateral thoracic artery. Also posterior intercostal arteries give lateral mammary branches from the lateral cutaneous branches.

276
Q

Where do breast carcinomas usually come from?

A

Adenocarcinomas arising from the epithelial cells of the lactiferous ducts in the lobules.

277
Q

What are some general symptoms of breast cancer?

A

Lymphedema, swelling, peau d’orange, can feel palpable nodes.

278
Q

What are the symptoms of breast cancer that has invaded glandular tissue?

A

Large dimples caused by shortening / traction of the suspensory ligament.

279
Q

What are the symptoms of breast cancer that has invaded retromammary space, pectoral fascia, or interpectoral lymph nodes.

A

Pectoral fascia - rock-hard, fixed nodule. The breast elevates when the pec contracts.

280
Q

What are the symptoms of breast cancer that has invaded the subareolar space?

A

Retraction and deviation of nipples caused by shortening of ducts.

281
Q

What are the types of mastectomies?

A

Simple/total - breast tissue. Modified radical - breast tissue + lymph nodes. Radical - breast tissue + lymph nodes + muscle.

282
Q

Where does breast lymph go?

A

To the subareolar lymphatic plexus.

283
Q

Where do the lateral quadrants of the breast drain their lymph to?

A

The axillary lymph nodes (they get 75% from these areas).

284
Q

Where do the medial quadrants of the breast drain their lymph to?

A

The parasternal lymph nodes (they can also travel to the contralateral breast).

285
Q

Where do the inferior quadrants of the breast drain their lymph to?

A

The subdiaphragmatic lymph nodes.

286
Q

Where do the axillary lymph nodes drain to?

A

The humeral, subscapular, pectoral LNs -> the central LNs -> the apical LNs. Mostly the pectoral LNs first though.

287
Q

What is the most common sense of breast cancer metastasis?

A

The axillary lymph nodes.

288
Q

What is a sentinel lymph node?

A

The first node to drain an affected area. Radioactive particles injected at least 3-4 hours prior to surgery. If tumour is in the medial breast, the SLN may be in the sternal/internal mammary chain.

289
Q

Where does the subclavian artery turn into the axillary artery?

A

At the lateral border of the first rib.

290
Q

Where does the axillary artery become the brachial artery?

A

At the inferior border of teres minor.

291
Q

What are the branches of the axillary artery?

A

The superior thoracic, the thoracoacromial (clavicular, acromial, deltoir, pectoral), the lateral thoracic, the subscapular (thoracodorsal, circumflex scapular, etc), the posterior circumflex humeral, the anterior circumflex humeral.

292
Q

What percent of the genome is used for transcription?

A

27%.

293
Q

What is haploinsufficiency?

A

A loss of function mutation where being a heterozygote you do not make enough of the functional protein.

294
Q

What is dominant negative?

A

Where a mutated defective allele actually inactivates the functional other allele to the point that it would be better to just only have one copy of the allele. This is common in proteins that make homodimers/multimers.

295
Q

What are some examples of tautomeric shifts that result in mutations?

A

T going keto->enol A going amino->imino

296
Q

What are some examples of deamination resulting in mutations?

A

A->I C->U G->Xanthine 5’methylC->T

297
Q

What are intercalating agents and what are some examples?

A

Planar, aromatic agents that insert between base pairs and push them apart. Proflavin, EtBr.

298
Q

Name a base analog.

A

5’Bromouracil in keto is a T analog and in enol is a C analog.

299
Q

How do bacterial protect their own DNA from restriction enzymes?

A

Through the methylation patterns.

300
Q

What are Alu sequences?

A

The most common of repetitive DNA sequence. A type of SINE (300bp) that is very active in transposition and often causes disease. It encodes a 7S L RNA that makes SRP.

301
Q

What is SRP?

A

Signal recognition peptide. a ribozyme that recognizes amino terminals of newly translated proteins. It brings the ribosome into the ER and forms the RER. All SRP bound proteins will be put into the ER.

302
Q

What are the components of a plasmid?

A

RE sites, ampicillin resistance (Ampr), an ORI, LacZ.

303
Q

What is a probe?

A

An ssRNA or ssDNA that is labeled wit an enzyme, a fluorescent tag, or a radioactive tag. They can be made to bind with high or low stringency.

304
Q

How big are ASOs?

A

15-20nt.

305
Q

What genetic risks come with advanced maternal or paternal age?

A

Maternal - abnormal chromosome number Paternal - point mutations

306
Q

What does base excision repair correct? What if it doesn’t do the repair?

A

Single nucleotide mistakes. Either a mutation or a break in DNA will occur - the latter causes apoptosis.

307
Q

How does base excision repair work?

A

A glycosylase removes the base, then an AP EN comes in. In short patch repair, a 5’dRP lyase is followed by a polymerase (nondispacing synthesis) and then a ligase. In long patch repair, a polymerase comes in (displacing synthesis) followed by a flap EN and then a ligase.

308
Q

What is Lynch syndrome?

A

AKA Hereditary non polyposis colon cancer. An autosomal dominant defect in mismatch repair. It causes a >50% risk of colon cancer and an increased risk of endometrial and other cancers.

309
Q

What does nucleotide excision repair correct? What if it doesn’t repair?

A

UV damage. If it doesn’t work, mutations accumulate and eventually the cell results in senescence.

310
Q

What is TC-NER? What illnesses can be caused by mutations to the mechanism?

A

RNA Pol itself identifies the lesion by halting, and recruits repair enzymes. Mutations can cause trichothiodystrophy (rough scaling skin, brittle hair, impaired mental function) or cockayne syndrome. Both of these have photosensitivity.

311
Q

What is G-NER? What illnesses can be caused by mutations to the mechanism?

A

XPC-RAD23B or DDB1-DDB2 scan the whole genome. They uncoil a ~40nt loop, and remove 25-30nt. RPC loads polymerase delta/epsilon/ki onto the 3’ end and ligase seals the nick.

312
Q

What if double strand break repair fails to repair?

A

Senescence and then apoptosis.

313
Q

What are the types of double strand break repair?

A

NHEJ, Homologous recombination (needs to be done in metaphase, requires a sister chromatid), MMEJ (microhomology mediated end joining). MMEJ first degrades the 3’ ends to reveal small regions of homology and then copies the homologous region to repair the break.

314
Q

What is ataxia-telangiectasia?

A

A homozygous mutation in ATM related protein kinase (a signalling protein required for dsDNA break repair). Cerebellar ataxia starting in early childhood, thymus hypoplasia, immunodeficiency, lymphoreticular malignancies, dilation of small blood vessels (telangiectasia), extreme sensitivity to ionizing radiation.

315
Q

What happens if singe strand breaks aren’t repaired? How are there repaired?

A

DNA replication will halt followed by homologous recombination. It’s repaired using DNA ligase in all cells if detected prior to replication.

316
Q

What can RFLP detect?

A

Paternity, large insertions/deletions.

317
Q

How is Sickle-cell anemia caused?

A

It is a mutation in the beta chain of hemoglobin that eliminates an MstII cut site.

318
Q

How is Huntington’s Chorea caused?

A

>35 CAG repeats.

319
Q

What is PCR most useful for?

A

For when there are small amounts of DNA, e.g. preimplantation testing, identifying pathogenic DNA, sequencing fossil DNA.

320
Q

How long are the probes in microarrays?

A

30-100nts.

321
Q

How does whole genome sequencing work?

A

Microarrays that find polymorphisms statisticlaly associated with a trait (linked). Follow up with sequencing.

322
Q

How does next-gen sequencing work?

A

It uses ddNTPs like in Sanger but they are labeled with coloured dyes and a machine reads the order of colours going through it to determine the sequence.

323
Q

What are BRCA1 and BRCA2?

A

22 exons, >5500bp and 26 exons, >11,000bp respectively. Mutations in these dominantly account for 2-4% of breast and ovarian cancers, especially early onset ones.

324
Q

How do you detect CNVs?

A

Make a CGH array - probes for monomorphic DNA sequences scattered all over the genome. Reference DNA labeled green, patient labeled red, mix in 1:1 ratio, compare the red:green ratio.

325
Q

How do ZFNs work?

A

A FokI endonucleare targeted with a sequence of covalently fused Zn fingers.

326
Q

What is the relationship between ALS and the SOD-1 mutation.

A

The G93A in SOD-1 is mutated. A knockout of the SOD-1 gene does not mimic ALS in mice, but a knockin of the mutation does.

327
Q

What’s the use of whole-genome sequencing?

A

To discover single-gene (Mendelian) disorders, rare variants, figure out location of a mutation, predictive testing for disease susceptibilities, determining risk to offspring, cancer genomics, comprehensive embryo screening.

328
Q

What is Bartter syndrome?

A

A membrane transport defect that causes renal salt wasting, hypokalemia, hypotension, metabolic alkalosis.

329
Q

What is Fick’s law?

A

Applicable only in simple diffusion. J=A/T x S x (C1-C2) A being surface area, T being thickness, S being lipid solubility, and the concentration gradient being electrical or chemical depending on whether or not they are electrolytes or not.

330
Q

What kind of things need help crossing the membrane?

A

Hydrophilic things.

331
Q

How are Jmax and Km found?

A

By plotting J against concentration gradient.

332
Q

Describe a pore.

A

Not selective, not regulated, lots of incorrect things can get through.

333
Q

Describe an ion channel.

A

Water filled pore, selective and gated. An alpha subunit and regulatory subunits. Has a pore forming region, selectivity region, and a gate (maybe an inactivation gate).

334
Q

What is the function of the Na+ channel?

A

Voltage gated generates action potentials. Non voltage gated results in Na+ transport in epithelia.

335
Q

What is the function of the K+ channel?

A

Maintain membrane potential, terminate signal in excitable cells, excite muscle and nerve cells. Homeostasis of K+ (e.g. GI tract, kidney).

336
Q

What is the function of the Ca++ channel?

A

Calcium entry to cells, signalling mechanisms, excitability in some cells.

337
Q

What is the function of the Cl- channel?

A

Excitability in CNS neurons and transport of Cl- out of cells (e.g. in epithelia).

338
Q

What is the exchange rate of the Na+/K+ “sodium pump” ATPase? What cells is it in?

A

3 Na+ out, 2 K+ in. It’s in virtually every cell.

339
Q

What is the function of the Ca++/H+ ATPase? What cells is it in?

A

Also called PMCA - it is in most cells and helps them maintain low intracellular calcium.

340
Q

What is the function of the H+/K+ ATPase? What cells it it in?

A

It exchanges 2 of each. It is in the plasma membranes of parietal cells in the stomach and intercalated cells in the kidney (into gastric/collecting duct lumen).

341
Q

What is the function of the H+ ATPase? What cells it it in?

A

It pumps H+ out of the cytosol into various organelles. A form is expressed in the plasma membrane of some kidney nephron cells.

342
Q

Name some antiporters?

A

H+/Na+. HCO3-/Cl-. out/in

343
Q

Name some cotransporters/symporters

A

Na+/Cl- Na+/Cl-/K+ Na+/glucose Na+/amino acids all go in.

344
Q

What is a uniporter? What are examples?

A

A channel selective for a single solute - the solute binds at one side of the membane, undergoes a conformational change, releases the solute on the other side, returns to its nonbound conformation. The GLUT1-4 transporters that move glucose into cells are an example.

345
Q

What’s the difference between GLUT1 and GLUT2?

A

GLUT1 is in most cells, and a deficiency causes epileptic disorder. GLUT2 is in the pancreas, liver, kidney, and a deficiency causes Fanconi-Becel syndrome.

346
Q

What are the relative speeds of a pore, channel, and carrier?

A

Pore>channel>carrier

347
Q

Describe the Na+/K+ pump-leak coupling.

A

Na+ enters the cell, coupled to Ca+ exiting. The entered Na+ exits via the Na+/K+ leak pump. The K+ then exits via leak channels, generating the negative membrane potential.

348
Q

What are the percentages of total body water in men, women, newborns?

A

60%, 50%, 75%

349
Q

In a man, what are the approximate percentages of different water compartments?

A

40% ICF, 20% EFC ( roughly 13% interstitial and lymph, 3% plasma, 1% transcellular fluid)

350
Q

What is formula used to find volume of a container with an indicator?

A

V=M/C or if indicator is not ideal in a significant enough way, V=M-Mexcreted/C

351
Q

What are the qualities of an ideal indicator?

A

Nontoxic, rapidly and evenly distribute, restricted to compartment, not metabolized, has an easy to measure concentration, does not change body fluid distribution.

352
Q

What indicator(s) are typically used in the ECF?

A

Radiosulphate, inulin, mannitol, thiosulfate

353
Q

What indicator(s) are typically used in the plasma?

A

123I-albumin, Evan’s blue

354
Q

What indicator(s) are typically used in the interstitial fluid?

A

ECF plasma

355
Q

What indicator(s) are typically used in the intracellular fluid?

A

TBW-ECF

356
Q

What is osmosis?

A

Diffusion of fluid from low osmolality to high osmolality compartments.

357
Q

What is net flux of water?

A

The sum of the unidirectional fluxes - when osmolality is increased, unidirectional flux decreases from that compartment.

358
Q

How can you measure osmotic pressure?

A

By applying a hydrostatic pressure that prevents the net influx of water.

359
Q

What is the van’t Hoff equation for osmotic pressure?

A

pi= n C R T (n=number of particles, C=mol/L) This predicts the osmotic pressure for very dilute solutions, depending on the solute and concentration a different correction factor needs to be subtracted from this value to make it more accurate.

360
Q

What are osmolarity and osmolality measured in?

A

Osmolarity: mosm/L Osmolality: mosm/KgH2O

361
Q

What is the normal osmolality for ICF and ECF?

A

275-290 mosm/KgH2O.

362
Q

How do you measure osmolality in a lab setting?

A

Freezing point depression.

363
Q

What is a reflection coefficient?

A

Sigma. From 0-1. 1 means it is completely reflective/non permeant. An effective osmolyte.

364
Q

What’s the formula for effective/physiological osmotic pressure?

A

pi = sigma n C

365
Q

What are the major effective osmolytes? How can you use them to estimate plasma osmolarity?

A

Na+, Cl-, glucose, BUN (blood urea nitrogen). 2[Na+] + [glucose]/18 + [BUN]/2.8.

366
Q

What is tonicity?

A

Determined by effective osmolytes.

367
Q

What are RVD and RVI?

A

Regulatory volume decrease and increase. RVD - common strategies are efflux of K+ as well as efflux of organic solutes like amino acids. RVI - common strategy is Na+ influx.

368
Q

Describe the trunks of the brachial plexus.

A

Superior (C5 and C6) Middle (C7) and Inferior (C8 and T1)

369
Q

Describe the cords of the brachial plexus.

A

The posterior cord is all the posterior divisions of the trunks. The lateral cord is the anterior divisions of the superior and middle trunk. The medial cord is the anterior division of the inferior trunk.

370
Q

Describe the terminal branches of the brachial plexus.

A

Axillary - posterior cord (C5,C6) Radial - posterior cord (C5-T1) Musculocutaneous - lateral cord (C5-C7) Ulnar - medial cord (C8-T1) Median - lateral and medial cord (C6-T1)

371
Q

Name the supraclavicular branches of the brachial plexus.

A

Long thoracic (C5-C7) Dorsal scapular (C5) Nerve to subclavius and suprascapular nerve (from the superior trunk - C5,C6)

372
Q

What is the non terminal branch that comes out of the lateral cord of the brachial plexus?

A

The lateral pectoral nerve (C5-C7)

373
Q

What are the non terminal branches that come out of the posterior cord of the brachial plexus?

A

Upper subscapular (C5), lower subscapular (C6), Thoracodorsal (C6-C8)

374
Q

What are the non terminal branches that come out of the medial cord of the brachial plexus?

A

Medial brachial cutaneous, medial antebrachial cutaneous, medial pectoral - all C8,T1

375
Q

What are the muscles of the anterior compartment of the arm? What are they innervated by? What is their blood supply?

A

Biceps brachii, coracobrachialis, brachialis. Musculocutaneous nerve Brachial artery

376
Q

What are the muscles of the posterior compartment of the arm? What are they innervated by? What is their blood supply?

A

Triceps brachii, anconeus The radial nerve and deep artery of the arm (triangular interval)

377
Q

What is the origin of the biceps brachii?

A

Long head - supraglenoid tubercle, short head - coracoid process.

378
Q

What is the insertion of the biceps brachii?

A

Radial tuberosity and forearm fascia via biccipital aponeurosis.

379
Q

What is the action of the biceps brachii?

A

Supinates, flexes supine forearm, helps hold humeral head in glenoid fossa.

380
Q

What is the action of the coracobrachialis?

A

Adduct humerus, flex arm.

381
Q

What is the action of the brachialis?

A

Flexes the forearm in all positions.

382
Q

What is the insertion of the triceps brachii?

A

The olecranon process.

383
Q

What is the action of the triceps brachii?

A

Long head - extends forearm, adducts and extends arm, resists inferior dislocation of humerus in adduction

384
Q

What is the action of the anconeus?

A

Assists in forearm extension, stabilizes the elbow.

385
Q

Where are the capitulum and trochlea relative to each other?

A

Capitulum is lateral, trochlea is medial.

386
Q

Where are the coronoid and olecranon fossa relative to each other?

A

The olecranon fossa is posterior, and the coronoid fossa is anteriorly above the trochlea.

387
Q

What can a surgical neck fracture result in?

A

Injury to the quadrangular space (the axillary nerve and posterior humeral artery). Damage to the axillary nerve results in loss of innervation to the deltoid, sensory loss of skin over the deltoid. You can feel a palpable depression under the acromion.

388
Q

What can a humeral shaft fracture result in?

A

Tranverse - deltoid pulls proximal fracture laterally. Spiral - may cause shortening. Damage to the triangular interval (radial nerve and deep artery of the arm).

389
Q

What can a distal humerus fracture result in?

A

Can be inter or supracondylar. Can result in damage to the medial nerve and brachial artery.

390
Q

What are the components of the elbow joint?

A

Humeroulnar (hinge), humeroradial (glide), and proximal radioulnar (pivot) joints.

391
Q

What are important portions of the radius?

A

Radial head + tuberosity.

392
Q

What are the important portions of the ulna?

A

Olecranon process, coronoid process, trochlear notch.

393
Q

How does supination of the arm occur?

A

The head of the radius swivels inside the annular ligament, against the capitulum and radial notch of ulna.

394
Q

Describe elbow dislocation.

A

The most common is posterior dislocation, where the person falls on an extended, abducted arm. It hyperextends and the radius and the ulna are dislocated posteriorly relative to the humerus.

395
Q

What is the terrible triad?

A

Elbow dislocation + radial head fracture + coronoid process fracture.

396
Q

What is nursemaid’s elbow?

A

Common in the left arm of kids 1-4. The radius comes off (subluxation and dislocation) and pinches the annular ligament against the capitulum.

397
Q

Describe the rupture of the tendon of the long head of the biceps brachii.

A

Common in men over 60 as a result of tear over the intertubercular sulcus. An audible snap/pop followed by a “popeye” deformity and pain/tenderness at the shoulder.

398
Q

What are the deep tendon reflexes?

A

Biceps brachii (to test musculocutaneous), triceps brachii (to test radial nerve). Diminished means lesion at the LMNs in the peripheral nerves. Brisk means lesion at the UMNs in the CNS.

399
Q

Describe the route of the musculocutaneous nerve.

A

It pierces the coracobrachialis, travels distally between the biceps and brachialis, then emerges lateral to the biceps as the lateral cutaneous nerve of the forearm.

400
Q

Describe the route of the radial nerve.

A

Enters the arm posterior to the brachial artery medial to the humerus, anterior to the long head of the triceps. Descends inferolaterally *with the deep artery* in the radial groove, between the lateral and medial heads of the triceps. When lateral to the humerus it pierces lateral intermuscular septum as it moves to the forearm anterior to the lateral epicondyle, between the brachialis and brachioradialis.

401
Q

What does injury to the radial nerve do?

A

Superior to the origin of triceps = paralysis of all muscles controlled by it, sensory loss. In the radial group = paralysis of the medial head of the triceps and all posterior muscles of the forearm distal to the affected site, sensory loss. Characteristic wrist drop.

402
Q

What does a blood pressure cuff do?

A

Compress the brachial artery against the humeral shaft.

403
Q

What is a Volkmann’s contracture?

A

Sudden occlusion or laceration of the brachial artery resulting in a permanent contraction/flexion.

404
Q

What connects the cephalic and basilic veins?

A

The medial cubital veins.

405
Q

What does the cephalic vein travel with?

A

The lateral antebrachial cutaneous nerve.

406
Q

What does the basilic vein travel with?

A

The medial antebrachial cutaneous nerve.

407
Q

What makes up the superficial cubital fossa?

A

The medial and lateral epicondyles on the top, the brachioradialis laterally, pronator teres medially.

408
Q

What makes up the deep cubital fossa?

A

From medial to lateral, the biceps brachii tendon, brachial artery, and medial nerve.

409
Q

Describe upper trunk (brachial plexus) injuries.

A

Caused by excessive angle increase between the neck and shoulder. Muscle paralysis depends on the location of injury. Loss of sensation on the lateral arm/forearm.

410
Q

What is a prefixed and a postfixed brachial plexus?

A

C4-C8 and C6-T2 respectively.

411
Q

What is Erb-Duchenne palsy and how is it caused?

A

“Waiter’s tip” deformity, shoulder medially rotated and extended and adducted, forearm pronated. Deltoid, brachialis, biceps brachii paralyzed. Caused by a separation of head and shoulder (labor dystocia) during birth. An upper brachial plexus (C5 and C6) injury.

412
Q

What is Klumpke Palsy and how is it caused?

A

Claw hand from ulnar nerve involvement, ape hand ith median nerve involvement. Can be associated with Horner syndrome (myosis). Caused by upper limb trauma during birth. A lower brachial plexus injury (C8 and T1).

413
Q

What is claw hand and how is it caused?

A

It is weak finger abduction and adduction, medial hand numbness, clawing of digits 4-5. It is caused by medial elbow and wrist trauma - specifically trauma to the ulnar nerve.

414
Q

What is radial nerve palsy and how it caused?

A

Wrist drop, inability to extend wrist, loss of sensation from dorsum of thumb. Caused by trauma to the lateral albow or fracture to the midhumerus at the radial groove.

415
Q

What is Carpal Tunnel Syndrome and how is it caused?

A

Ape hand, sometimes loss of sensation on the lateral 3 1/2 digits. Wrist flexion hurts, wrist extension relieves pain. Symptoms worse at night. Caused by repetitive wrist motion (swelling within the flexor retinaculum compresses the median nerve).

416
Q

What is winged scapula and how is it caused?

A

Serratus anterior paralysis, medial scapula protrudes if patient pushes against a wall. Caused by a lesion to the thoracic nerve - often by a surgery (mastectomy) and trauma to the lateral chest.

417
Q

What is the cutaneous innervation of the radial nerve?

A

Basically the entire posterior compartment of the arm and the forearm.

418
Q

What is the cutaneous innervation of the axillary nerve?

A

The skin over the deltoid.

419
Q

What is the cutaneous innervation of the median nerve?

A

The lateral 3 1/2 fingers on the palmar side and their tips on the dorsal side.

420
Q

What is the cutaneous innervation of the ulnar nerve?

A

The medial 1 1/2 fingers and the skin below them on the palm and back.

421
Q

What indicators are used to measure TBW volume?

A

3H2O, 2D2O, antipyrine.

422
Q

What does the musculocutaneous nerve pierce?

A

The coracobrachialis.

423
Q

What does the medial pectoral nerve pierce?

A

Pectoralis minor.

424
Q

What does the cephalic vein run with?

A

The lateral antebrachial cutaneous nerve (what the musculocutaneous nerve becomes)

425
Q

What does the basilic vein run with?

A

The medial antebrachial cutaneous nerve.

426
Q

What does the lateral thoracic artery run with?

A

The long thoracic nerve.

427
Q

What does the brachial artery run with?

A

The median nerve.