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NMSP > Week 4 (Exam 2) > Flashcards

Week 4 (Exam 2) Flashcards

1
Q

Saddle Nose, Palate, skull & extremities

A

Tertiary stage of Acquired Syphilis

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2
Q

Presentation of fibrous dysplasia (McCune Albright has Cafe Au Lait)

A 
Early adolescence, mostly male
1/3 craniofacial bones, 1/3 femur or tibia, 1/3 ribs
Ground class w/ well defined margins on radiographs
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3
Q

Imaging of Axonal degeneration vs segmental demyelination

A

Segmental is onion skin, degeneration is unraveling

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4
Q

L5 dermatome

A

Lateral Calf

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5
Q

Diazepam MOA

A

Centrally acting spasmolytic

GABAa enhancer in the presence of GABA

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6
Q

Intermediate-lasting, non-depolarizing muscle relaxants

A

Atracurium
Cisatracurium
Rocuronium
Vecuronium

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7
Q

-Zumab

A

Humanized monoclonal Ab

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8
Q

Osteopetrosis bones look like

A

Bones lack medullary cavity
Bulbous ends of long bones
Small foramina compress nerves

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9
Q

Where do you see distinguishing histology of CIDP?

A

Sural nerve biopsy: onion bulbs

Multiple layers of Schwann cells wrapped around an axon like an onion

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10
Q

Major clinical features of sciatic nerve compression

A

pain down lateral thigh
foot drop
absent ankle jerk

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11
Q

Genetics of DMD

A

Xp21, female carriers asx

Increased CK, Risk for cardiomyopathy

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12
Q

Gallium nitrate

A

Prevents bone resorption (treats hypercalcemia)

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13
Q

Prototypical depolarizing vs non-depolarizing muscle blockade

A

non-depolarizing: d-turbocurarine

depolarizing: succinylcholine

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14
Q

CABG brachial plexopathy

A

Compression / stretch

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15
Q

Steroid myopathy

A

Type 2 muscle cell atrophy during glucocorticoid therapy

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16
Q

Key lab findings in Guillain barre syndrome

A

CSF: albumino-cytologic dissociation (more protein)
NCVs: slow conduction, focal conduction, prolonged F

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17
Q

Myelin Ovoids

A

Schwann cells catabolize myelin and later engulf axon fragments. Produces small oval compartments

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18
Q

Embryonal Rhabdomyosarcoma

A

60%, Kids, cross-striations of rhabdomyoblasts

Sarcoma botryoides: cambium layer

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19
Q

CNS lesions signs (general)

A

Upper motor
Patterned paresis, spastic, normal bulk, no fasciculations
Hyperactive DTRs, Babinski sign

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20
Q

What happens if mesenchymal cells (like chondrocytes) cant break down mucopolysaccharides?

A

They accumulate in chondrocytes and ECF, creating structural defects in articular cartilage
Short stature, chest wall abnormalities, malformed bones

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21
Q

What sensations are affected by small unmyelinated sensory fibers?

A

Temperature, pain

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22
Q

two forms of vitamin D given to treat Osteoporosis

A

Ergocalciferol: D2
Cholecalciferol: D3 (the sunlight one)

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23
Q

Carnitine PAlmitoyltransferase II deficiency

A

Most common, episodic muscle damage with exercise and fasting

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24
Q

Kearns-Sayre syndrome

A

Weakness of extra ocular muscles
Opthalmoplegia, pigmentary degeneration of retina
Complete heart block

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25
Q

Severe limb shortening and bowing, frontal bossing, depressed nasal bridge, Small Chest Cavity (respiratory insufficiency)

A

Thanatophoric dysplasia
FGFR3 Receptor Mutation
Most lethal form of dwarfism

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26
Q

Genetics of Osteochondroma

A

EXT1 / 2 gene in sporadic, encode heparin sulfate GAGs

Multiple: AD, progresses to chondrosarcoma

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27
Q

4 Mitochondrial pathologies

A

Point DNA nut: Leber Hereditary Optic Neuropathy
Nuclear DNA genes: Leigh and Barth Syndromes
mtDNA deletions/duplications: Kearns-Sayre

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28
Q

Sulfinpyrazone

A

Similar to probenecid

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29
Q

HMSN 2

A

Charcot-Marie-Tooth II
AD, axonal, adults
Distal symmetric atrophy, arreflexia, normal conduction

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30
Q

Fabry’s Disease

A

a glactosidase deficiency

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31
Q

Primary hyperparathyroidism labs

A

High Ca, Normal/Low P, Normal/high Alk Phos

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32
Q

Neuronal damage involved in varicella zoster

A

Large motor neurons in ant horns

Cranial nerve motor nuclei

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33
Q

Presentation of VHL

A 
Polycythemia (EPO expression)
Hemangioblastomas
Cysts
Renal Cell Carcinoma
Pheochromocytoma
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34
Q

Sulfasalazine MOA

A

RA: Sulfpyradine is active drug
IBD: 5-ASA is active drug
parent molecule releases adenosine, inbits NFkB

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35
Q

Posterior interosseous N compression

A

Radial N, paresis of finger extensors, radial wrist deviation

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36
Q

Single gene defect in LRP5

A

Linked to Osteoporosis

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37
Q

Genetics of Liposarcoma - myxoiy and round cell type

A

t(12;16)(q13;p11)
FUS-DDIT3 fusion protein
Arrests adipocytic differentiation

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38
Q

Short stature, rhizometric shortening of limbs, frontal bossing, midfeace deficiency

A

Achondroplasia

FGFR3 Receptor Mutation

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39
Q

Osteosarcoma

A

Bone forming
Malignant, 10-20 years old
Commonly at metaphysics of distal femur, proximal tibia
Extends from medulla to lift periosteum, malignant cells producing woven bone

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40
Q

Drugs that decrease uric acid production

A

Xanthine oxidase inhibitors

Recombinant uricase

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41
Q

Osteopontin (aka osteocalcin)

A

from osteoblasts
Bone formation, mineralization, calcium homeostasis
sensitive and specific for osteoblast activity

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42
Q

Nerve gas antidote

A

Atropine: 2-6mg q5-10mins
2-pralidoxime chloride (2-PAM): 1gm IV 20-30 min
Seizures? benzos only

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43
Q

Two considerations for pure sensory neuropathy

A 
Sensory Gangionopathy (Paraneoplastics, toxins)
Small fiber nueropathy (pain/temp, all else preserved)
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44
Q

Ring fiber, sarcoplasmic mass

A

Myotonic dystrophy

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45
Q

Cyclobenzaprine MOA

A

Centrally acting spasmolytic, unknown

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46
Q

Genetics of Myasthenia Gravis

A

High frequency of HLA-B8 and DR3

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47
Q

Distiguish Chronic Inflammatory Demyelinating Polyradiculoneuropathy from Guillain Barre

A

CIDP responds to steroids, Guillain Barre Doesn’t

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48
Q

Histology of chondrosarcoma

A

Calcified matrix appears as foci of flocculent densities

Cellular atypia: bizarre giant cells, multiple nuclei

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49
Q

Ewing sarcoma Genetics

A

t(11;22)(q24;q12) and t(21;22)(q22;q12)

EWS-FLI1 and EWS-ERG fusion proteins

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50
Q

Bone effects of post-menopausal osteoporosis

A

Increased osteoclast activity: Trabeculae are perforated and thin, causing micro fractures and vertebral collapse

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51
Q

Paget’s labs

A

Normal Ca, Normal P, High Alk Phos

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52
Q

Three manifestations of fibromatoses

A

Palmar: Dupuytren contracture (4/5th fingers)
Plantar (no contracture, unilateral, young)
Penile: Peyronie Dz: dorsolateral, causes curve

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53
Q

Presentation of Dermatomyositis

A

Lilac or heliotrope upper eyelid rash w/ edema
Telangiectasia on nail folds, eyelids, gums
Grotton Lesions on knockles, elbows, knees
Proximal muscle weakness, dysphagia, lung dz maybe

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54
Q

first, second, third line treatments of gout

A

NSAIDs
Colchicine
Steroids

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55
Q

Cubital tunnel syndrome

A

Ulnar nerve, clawing of 4th and 5th fingers

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56
Q

Criteria for osteopenia vs osteoporosis

A

Osteopenia: 1 - 2.5 standard deviations low
Osteoporosis: 2.5+ standard deviations low

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57
Q

Multinucleated Macrophages derived from circulating monocytes

A

Osteoclasts

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58
Q

Osteoprotegrin

A

Decoy recepto made by osteoblasts
Binds RANKL and prevents it from interacting with RANK
(builds)

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59
Q

Neuropathies associated with the thyroid

A

Hypo-: Compression mononeuropathies (Carpal tunne;l)

Hyer-: Resembles Guillain Barre

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60
Q

T4 dermatome

A

Nipple line

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61
Q

Presentation of mild osteopetrosis

A

Repeated fractures, diagnosed in adolescence or adulthood

Mild CN deficits and anemia

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62
Q

Toxicities of Tocilizumb

A

URIs, life-threatening infections

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63
Q

Presentation of mycobacterial osteomyelitis

A

Localized pain, fevers, chills, weight loss

Caseous necrosis and granulomas

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64
Q

osteomyelitis findings in kids

A

Subperiosteal abscesses: dissect for long distances along bone surface: lifting the periosteum impairs blood supply and contributes to necrosis
Sequestrum (dead bone) forms afterward

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65
Q

Subchondral vs medullary bone infarcts

A

Medullary are usually silent, involve trabecular bone

subchondral: painful, become constant, wedge-shape

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66
Q

McArdle Dz

A

Myophosphorylase Deficiency
Glycogen storage disease
Muscle damage with exercise

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67
Q

reverse depolarizing muscular blockade

A

wait

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68
Q

Blastic vs lytic bone lesions in metastatic bone cancer

A

Blastic: Prostatic adenocarcinoma
Lytic: Bone destroying, kidney, lung, GI

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69
Q

Febuxostat MOA

A

Xanthine Oxidase Inhibitor

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70
Q

Imaging of Osteosarcoma

A

X-ray: mixed lytic and plastic mass, Codman Triangle (elevation of periosteum)
Hematogenous spread to lungs, bone, brain.

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71
Q

Tariparatide MOA

A

Truncated version of endogenous 1-84 PTH

Increases bone deposition when given in pulses, once daily injection

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72
Q

Leigh Syndrome

A

Subacute necrotizing encephalopathy

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73
Q

Signaling molecules of RA

A

TNF and IL1: increase RANKL for bone resorption
CCP: Citrullinated peptides in Ab-Ag complexes
IFN-y from TH1, IL17: recruit neutrophils
(Test for CCP and Rheumatoid Factor)

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74
Q

Familial Amyloid Polyneuropathies

A

Amyloid deposition within peripheral nerves

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75
Q

Toxicities of MTX

A

Fetal death and congenital abnormalities

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76
Q

Ewing sarcoma Presentation

A

White people, 2nd most common in children
Small blue round cell tumor, neural diff’n (PNET)
Painful enlarging mass, fever
Periosteal rxn: onion skin x-ray
Medulla of long bone diaphysis

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77
Q

Denosumab Toxicities

A

Delays fracture healing
New Fractures
Osteonecrosis of jaw

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78
Q

MUSK syndrome treatment

A

Poor response to anticholinesterase meds, thymectomy
PLEX, IGIg, Rituximab are best
Remission is possible

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79
Q

Genetics of EMD

A

X-linked EMD1

AD EMD2

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80
Q

Osteogenesis Imperfecta Type II

A

Death in utero or within days, fractures in uterus
AR (some new mut AD)
Short pro-a1(1), unstable triple helix, abnormal or insufficient pro-a2(1)

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81
Q

NF-2 syndrome

A

Bilateral Acoustic Schwannomas (CN VIII)
Meningiomas, ependymomas
NF-2 Plaque
22q12 NF2 gene for Merlin

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82
Q

RA hand signs

A

Boutonniere: hyperextended DIP, Flexed PIP
Swan-Neck: Hyperextended PIP, flexed DIP
Ulnar deviation of fingers
Radial deviation of wrist

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83
Q

Inguinal ligament N compression

A

Femoral N from being in Lithotomy position

Weak Knee extension, absent knee jerk

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84
Q

Adverse effects of allopurinol

A

Stevens Johnson Syndrome (esp w/ HLA-B5801)

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85
Q

Tx of Paget

A

Calcitonin and Bisphosphonates suppress sx

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86
Q

Mitoxantrone MOA

A

Intercalates DNA, causes strand breaks, X-links

Treats MS, other neoplasms

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87
Q

Bone effects of Senile Osteoporosis

A

Cortex thinned by subperiosteal and endosteal resorption

Haversian system widened (may mimic cancellous bone)

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88
Q

Nerve findings in DMII

A

Most common: ascending distal symmetric sensorimotor
Segmental demyelination, fewer axons
Endoneurial arterioles thick, hyaline, PAS+
Autonomic (Postural HPTN, Seuxal, Bladder) Dysfxn

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89
Q

Osteoarthritis presentation

A

Men: Hips, Women: Hands and Knees

Evening stiffness, crepitus, WORSE w/ USE

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90
Q

Probenecid indications

A

underexcreters with GFR below 60, no stones

Pts w/ hyperuricemia, frequent attacks, tophi

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91
Q

NF-1 Neurofibroma appearance

A

Superficial, cutaneous
Plexiform: Bag of Worms
Can transform to malignant MPNST (triton tumor subtype)

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92
Q

Presentation of myotonic dystrophy

A

sustained contraction of a group of muscles
Can be elicited by percussion on thenar eminence
Stiffness, difficulty releasing grip
Skeletal muscle weakness: Gait, then hatchet face
Cataracts
Endocrinopathy
Cardiomyopathy

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93
Q

Guytons canal compression

A

Ulnar N, hypthenar atrophy, variable sensory loss

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94
Q

Ollier syndrome

A

Multiple enchondromas

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95
Q

Medial malleolus Nerve compression

A

Posterior Tibial N from ankle fracture, tenosynovitis

sensory loss in sole of foot

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96
Q

Parsonage/turner Syndrome

A

Severe pain in shoulder area followed by weakness and atrophy of shoulder girdle
Spontaneous recovery in 6-18 months, steroids help

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97
Q

Small fiber polyneuropathy clinical features

A

Pain, burning, paresthesias
Decreased pin-prick, temp.
Normal EMG/CNV
Decreased epidermal nerve fiber density on bx

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98
Q

Neuropathies associated with Monoclonal Gammopathies (B-cell cancers)

A

POEMS: polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes
Deposition of Paraprotein between non-compacted myelin lamellae

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99
Q

Presentation of liposarcoma

A

Deep soft tissue of proximal extremities and retroperitineum
Recur locally and repeatedly unless completely excised
Myxoid (intermediate) is most common, Abn mitoses

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100
Q

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

A

Symmetrical mixed sensorimotor polyneuropathy

Longer than 2 months

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101
Q

Presentation of osteoid osteoma

A

Usually worse at night

Responds to Aspirin and NSAIDs

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102
Q

Specific treatments for Botulinum

A 
Antitoxin  (can cause serum sickness, anaphylaxis)
Guanidine Hydrochloride (ca suppress bone marrow)
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103
Q

Pathognomonic for Gout

A 
Gouty Tophus (white crystal inclusion)
50% of the time its in the proximal big toe
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104
Q

Nerve gas

A

inhibit Ach esterase at NM junction to cause end organ overstimulation. Death my respiratory failure

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105
Q

Mononeuritis multiplex

A

Several nerves damaged haphazardly

Often from vasculitis, Polyarteritis Nodosa

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106
Q

Three sources of secondary gout and how that affects uric acid excretion

A 
NA turnover (leukemia): more production and excretion
CRD: Normal production, less excretion
Congenital (L-N, HGPRT def): More of both, again
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107
Q

B cell follicles in the thymus

A

Myesthenia gravis

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108
Q

Genetics of Ewing Sarcoma

A

85% show t(11;22) (q24:q12)
EWS-FL11 fusion gene
The amount of chemo-induced necrosis is px

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109
Q

Allopurinol MOA

A

Competitive inhibitor of Xanthine Oxidase

Hypoxanthine and xanthine are excreted

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110
Q

What sensations are affected by large myelinated fibers?

A

Light touch, two-point discrimination, vibration, joint position sense

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111
Q

Treatment for CIDP

A

IVIg, steroids, plasma exchange, immunosuppressives

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112
Q

Presentation of TSC

A 
Seizures, autism, retardation
Cortical Tubers
Renal Angiomyolipomas
Pulmonary lymphangioleiomyomatosis
Cardiac Rhabdomyomas
Angiofibromas, Subungual fibromas, Shagreen, Ashleaf
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113
Q

Long-lasting, non-depolarizing muscle relaxants

A

Doxacurium
Pancuronium
Pipecuronium

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114
Q

Raloxofene Toxicities

A

DVT, PE, Stroke

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115
Q

Most common Lumbar root compressions

A

L4-L5: L5 root

L5-S1: S1 root

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116
Q

Diptheria

A

Exotoxed in, begins with paresthesias and weakness
Loss of proprioception and vibratory sensation
Peripheral neuropathy w/ bulbar and respiratory disfxn

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117
Q

Osteoporosis tx

A

Bisphosphonates (decreased osteoclast activity)
Hormone therapy
Denosumab (anti-RANKL)
Anti-Sclerostin and Cathepsin K inhibitors investigational

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118
Q

Identify a hypertrophic muscle cell

A

Longitudinal, thin splitting

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119
Q

Acute vs chronic gouty nephropathy

A

Acute: Uric acid in tubules
Chronic: Monosodium urate in medullary interstitium

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120
Q

Hydroxychloroquine MOA

A

Lipophilic weak base that accumulates in lysosomes (increases the pH from 4 to 6)
This happens in APCs and limits MHCII association
Slows RA / disease, but has 3-6 mo induction period

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121
Q

Lambert-Eaton etiology

A

Auto-immune attack against voltage gated calcium channels on presynaptic terminal
Often associated with CA

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122
Q

Zolendroic Acid

A

Bisphosphonate that has fewer GI problems, but a strong jaw osteonecrosis problem

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123
Q

Presentation of metastatic tumors of the skeleton

A

Kids: Nb, Wilms, Osteosarcoma, Ewing, Rhabdomyosarcoma
Multifocal (except kidney and thyroid, usually solitary)
Axial Skeleton (red marrow)
Small bones of hand and feet (lung, kidney, colon)
Radiography lytic or blastic

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124
Q

Osteoid Osteoma

A

Bone forming
Benign, 10-20 years old
Commonly in metaphysics of long bones (femur, tibia)
Cortical, interlacing microtrabeculae of woven bone

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125
Q

Baclofen MOA

A

Centrally Acting Spasmolytic

GABAb agonist

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126
Q

Wallerian Degeneration

A

Distal result of a traumatic axon transection

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127
Q

McCune-Albright Dz

A

Bone lesions
Unilateral, Cafe au Lait spots
Precocious puberty
GNAS mutation

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128
Q

Tocilizumab MOA

A

Anti-human IL-6 Ab, competing for its receptors

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129
Q

LPR5 Receptor mutation

A

Osteoporosis or osteoporosis

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130
Q

Three major findings in chronic osteomyelitis

A

Involucrum: Shell of living tissue around area
Brodie Abscess: walled off by reactive bone
Sclerosing osteomyelitis of Garre: Jaw

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131
Q

Rhabdomyosarcoma genetics (alveolar type)

A

t(2;13)(q35;q14) and t(1;13)(p36;q14)
PAX3/7-FOXO1 fusion proteins
Chimeric transcription factors, disrupt skeletal muscle differentiation

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132
Q

Pathophysiology of Lambert Eaton

A

Proximal muscle weakness and autonomic dysfunction

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133
Q

Sclerostin

A

Inhibits WNT (bone growth)

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134
Q

Presentation of Osteogenesis imperfecta type I

A 
Normal lifespan, lots of bone breaks esp before puberty
Loose Joints
Blue / purple / gray sclerae
Brittle Teeth
Hearing loss
Triangle Face
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135
Q

Colchicine MOA

A

Binds to tubular, prevents microtubule formation

Inhibits leukocyte migration, phagocytosis

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136
Q

Phase 1 depolarizing block physiology

A

Membranes remain depolarized, don’t depolarize

Flaccid Paralysis

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137
Q

Histology of inclusion body myositis

A

Rimmed vacuoles highlighted by basophilic granules around periphery, endomysial fibrosis

138
Q

Edetate Disodium

A

Calcium chelating agent, can be dangerous

139
Q

Toxic myopathies

A

Statins
Chloroquine and hydroxychloroquine
ICU myopathy (myosin deficit myopathy): steroids
Thyrotoxic: Eyelid swelling, proximal weakness
Alcohol: rhabdomyolysis

140
Q

Toxicities of Tofacitinib

A

Serious, maybe fatal infections
Opportunistic pathogens
increased malignancies

141
Q

Build vs breakdown signaling components

A

Build: Estrogen, Testosterone, Vit D
Breakdown: PTH, IL-1, Glucocorticoids

142
Q

Genetics of Osteosarcoma

A

Rb gene
TP53 (Li-Fraumani syndrome: breast cancer)
INK4a, MDM2, CDK4

143
Q

NF-1 Syndrome

A

Optic pathway glioma
Cafe au Lait spots
Lisch nodules
17q11 for Neurofibromin

144
Q

What osteoarthritis finding is almost exclusively founding infants?

A

Septic or suppurative arthritis: epiphyseal infection spreads through articular surface or along capsular and tendoligamentous insertions into joints

145
Q

Maffucci syndrome

A

Multiple enchondromas + angiomas
Increased risk of chondrosarcoma
IDH1 and 2

146
Q

Reverse a non-depolarizing muscular blockade

A

AchE inhibitors

adding anti-cholinergic helps minimize effects

147
Q

Salmon MOA

A

Calcitonin: inhibits osteoclasts

Can tx osteoporosis but not prevent it

148
Q

aANCA

A

Systemic Vasculitis

149
Q

Acid maltase deficiency

A

Adult form, respiratory and trunk muscles affected

Pompe: generalized glycogenesis of infancy

150
Q

T1 Dermatome

A

Medial forearm

151
Q

Ganglion cyst

A

Usually on the wrist. Firm, fluctuant, translucent

Cystic or myxoiy degeneration, lacks cell lining

152
Q

Limb girdle muscular dystophy

A

Weakness preferentially affecting proximal muscle groups

AD and AR, variable onset

153
Q

How do long bones develop?

A

Endochondral ossification
Cartilage mold = anlagen
New bone at bottom of growth plates, longitudinal growth

154
Q

RANK

A

Receptor activator for NF-kB on oteoclast precursors

Stimulated by RANKL (breakdown) on osteoblasts and marrow stromal cells

155
Q

Osteoporosis diagnostics

A

Bone mineral density test (DEXA scan)

156
Q

Miller-Fisher Syndrome

A

Variant of Guillain Barre
Ophthalmoplegia, ataxia, arreflexia
Facial weakness, dysarthria, dysphagia maybe
GQ1b and GT1a Abs

157
Q

Angulated fibers

A

Atrophic fibers are smaller and triangular when denervated

158
Q

Carisoprodol MOA

A

Centrally Acting Spasmolytic, unknown

addictive potential, metabolized to meprobamate (anxiolytic effects)

159
Q

Pegloticase MOA

A

Recombinant Mamallian Uricase
Covelantly attaches to Methoxy PEG
Converts uric acid to soluble allantoin for chronic gout

160
Q

TNF inhibitors

A

Etanercept: SubQ 1-2x/week
Infliximab: IV q6w
Adalimumab: SubQ q2w
others: certolizumab, golimumab

161
Q

Probenecid MOA

A

Organic acid, blocks urate reabsorption more than secretion

162
Q

Tangier Disease

A

HDL Deficiency

163
Q

L4 dermatome

A

Medial Calf

164
Q

Tuberous Sclerosis

A

Subependymal giant cell astrocytoma
ash-leaf spots
Retinal astrocytoma (mulberry lesion)
AD 9q34 TSC1 gene for Hamartin

165
Q

Flab bone ossification

A

Intramembranous

New bone on preexisting surface: appositional growth

166
Q

Drugs to increase uric acid renal excretion

A

Uricosuric drugs

167
Q

Antoni A vs Antoni B NF2

A

A: spindle cells, Verocay bodies, Palisading around nuclear free zones
B: Hypocellular, myxoid extracellular matrix

168
Q

Leflunamide MOA

A

Inhibits Dihydrooretate dehydrogenase
blocks rUMP synthesis, inhibiting T cell proliferation
Second choice for RA, can be combo’d
16.5 day half life, loading doses necessary

169
Q

Gardner syndrome

A

10-15 years old
APC mutation
Multiple adenomas
Osteomas, thyroid and Desmond tumors, skin cysts

170
Q

Botulinum MOA

A

Non-centrally acting spasmolytic

Cleaves VAMP to prevent pre-synaptic fusion, inhibits Ach

171
Q

Curare

A

Muscle relaxant, blocks AChR for flaccid paralysis

Botox is what blocks release of ACh

172
Q

Denosumab MOA

A

RANKL inhibitor (decreases osteoclast fxn), given subQ every 6 mos

173
Q

Osteoporosis Labs

174
Q

Histology of dermatomyositis

A

Perifascicular atrophy

175
Q

Froment Sign

A

Ulnar neuropathy: Obama thumb flat is normal.

Positive sign is arched Obama thumb

176
Q

Genetics of Spinal Muscular Atrophy

A

AR, SMN1 (survival motor neuron 1) on Chr 5

177
Q

HIV neuropathy vs Lyme

A

HIV: Mononeuritis Multiplex (demyelinating)
Later stages associated with distal sensory neuropathy
Resembles Guillain barre or CIDP
Lyme: Polyradiculoneuropathy, Facial nerve palsies

178
Q

Gorlin Syndrome

A

Medulloblastoma
Basal Cell carcinomas
9q22.3 for PTCH gene

179
Q

Anti MAG Ab

A

MGUS associated neuropathy

180
Q

Hypoparathyroidism Labs

A

Decreased Ca, High P, Normal Alk Phos

181
Q

L1 dermatome

182
Q

Barth Syndrome

A

Infantile x-Linked cardioskeletal myopathy

183
Q

Hand signs of Psoriatic Arthritis

A

Pencil-in-cup deformity
Pitting in nails
Separation of nail from nail bed

184
Q

Antibodies founding Acute Motor axonal neuropathy (AMAN) and Acute Motor and Sensory Neuropathy (AMSAN)

A

GM1, GM1b, GD1a

185
Q

Chondrosarcoma

A

Cartilage forming
Malignant, 40-60 years old
Commonly found in pelvis, shoulder (axial skeleton)
Extends from medulla through cortex into soft tissue, chondrocytes with increased cellularity and atypia

186
Q

Cotton wool lamellar bone

A

Paget sclerotic phase

Jigsaw-like appearance with prominent cement lines

187
Q

Anakinra MOA

A

Recombinant, non-glycosylated IL-1 antagonist

188
Q

Treatment of Lambert-Eaton

A 
Tx Malignancy
AchE (Mestinon maybe)
Amifampridine
3-4 Diaminopyridine
Guanidine hydrochloride
Immunosuppression, IVIg
189
Q

Distinguish Gout from Pseudogout on microscopy

A

Psuedogout crystals are positively birefringent, regular gout is negative.
Psuedogout is Calcium pyrophosphate: Purple ovals

190
Q

The three phases of Sclerotic Phase Paget Dz

A

Initial Lytic phase (osteoclasts with 100 nuclei)
Mixed: Clasts persist, blasts too
Final: Burned out quiescent osteoclerotic
Can become sarcomatous

191
Q

Etiology of myasthenia gravis

A

Defect of Neuromuscular transmission due to an ab-mediated attack on nAChRs on the muscle membrane

192
Q

Myesthenia Gravis

A

Most have AChR auto-Abs, some have muscle RTK ones

some have thymoma, more have Thymic Hyperplasia

193
Q

Mitochondrial storage dz presentation

A

weakness
Increased serum CK or rhabdomyolysis
Extraocular muscle involvement commonly see
Chronic progressive external opthalmoplegia

194
Q

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

A

AD, Multiple Cutaneous Leiomyomas
Uterine Leiomyoma and RCC
LOF of chr 1q42.3

195
Q

How to treat Myesthenia gravis

A

AChE inhibitors
Plasmapharesis and immunosupressives
Thmectomy

196
Q

Two different kinds of fibrous dysplasia

A

Monostotic: 70%, usually asx
Polyostotic: 27%, crippling deformities

197
Q

Presentation of emery-Dreifuss muscular distrophy

A

Progressive humeroperoneal weakness
Cardiomyopathy
Early contractors of achilles, spine, elbows

198
Q

Big clue to cholinergic crisis (seen in myasthenia gravis)

A

Miosis and/or fasciculations

199
Q

Li-Fraumeni Syndrome

A

Malignant Glioma

17q for P53

200
Q

What is the most common pathogen involved in osteomyelitis?

A

Staph Aureus

201
Q

Joint appearance of RA

A

Fibrous Ankylosis within joint
Bony Ankylosis connecting the bones
Eroding cartilage
Thick pannus (fibrovascular tissue, granulation)

202
Q

Lab findings in Multifocal motor neuropathy

A

Elevated GM1 Ab
EMG shows conduction block/demyelinating features
CSF normal

203
Q

Cowden Syndrome

A

Dysplastic gangliocytoma of cerebellum
Facial trichillemoma
10q23.3 for PTEN

204
Q

Toxicities of Aldrenoat

A

Esophagitis
Jaw Necrosis
Abnormal femur fractures

205
Q

Pathophysiology of Lepromatous Leprosy

A

Schwann cells invaded my M Leprai
Segmental demyelination, loss of axons
Endoneurial fibrosis, thickening of perineural sheaths
Symmetric polyneuropathy affecting cool extremities
Pain fibers, loss of sensation causes injury, ulcers

206
Q

Presentation of inclusion body myositis

A

Late adulthood, slowly progressive muscle weakness most severe in quads and distal arms
Starts distal, asymmetric, dysphagia

207
Q

HLA-B27

A

Associated with Ankylosing Spondylitis, Reactive Arthritis

208
Q

-cept biologics for RA

A

Receptor fusion to IgG1 Fc portion

209
Q

Pathophysiology of Guillain barre

A

Macrophages penetrate bm of Schwann cells, Nodes of Ranvier and strip away myelin
Increased CSF protein (inflammation confined to roots)

210
Q

Stocking and glove distribution

A

Polyneuropathy: deficits start at feet and ascend with disease progression. Hands usually get hit at the same time as it gets to the knee

211
Q

Hereditary Motor Sensory Neuropathy (HMSN) 1

A

Charcot-Marie-Tooth I
AD, demyelinating, young people
Walking, running affected. Arreflexia, atrophy, deformities
EMG: slowing of motor nerve conduction velocity

212
Q

HMSN III

A

Charcot-Marie-Tooth III or Dejerine-Sotas

Severe, demyelinating, childhood

213
Q

Glatiramer Acetate MOA

A

Mix of L-Alanine, Glutamic Acid, Tyrosine, Lysine
Antigenically similar to Myelin Basic Protein
Induces T-supressor cells for myelin Ags
Treats MS

214
Q

C7 Dermatome

A

Middle Finger

215
Q

Presentation of Myasthenia Gravis

A

Fluctuating generalized weakness that worsens with exertion and over the course of the day
Diminished responses after repeated stimulation
Weakness begins with extra ocular muscles

216
Q

Saturday night palsy

A

Radial nerve

Upper arm, fell asleep awkwardly

217
Q

Identify regenerating denervated muscle fiber

A

Red trichrome stain, large central nuclei with prominent nucleoli

218
Q

RANKL mutation

A

Decreased or absent osteoclasts

219
Q

Cinacalcet MOA

A

Calcium mimetic

Binds parathyroid, increasing Ca sensitivity, Decreasing PTH

220
Q

Steroid muscle relaxants that cause the least amount of histamine release

A

Pancuronium
Pipercuronium
Rocuronium
Vecuronuim

221
Q

WNT

A

Binds LRP5/6 on osteoblasts
Triggers activation of B-Catenin and Osteoprotegrin production
Inhibited by sclerostin

222
Q

Type 2 fiber atrophy

A

Inactivity or disuse

223
Q

AchE inhibitors

A 
Donepezil, Edrophonium
Ambenonium
Echothiophate
-Stigmine (neo-, physo-, pyrido-, riva-)
Galantamine
Tacrine
224
Q

Histology of Osteoid Osteoma

A

Central Nidus of translucent woven bone surrounded by rim of osteoblasts
(Haphazardly interconnecting trabeculae)

225
Q

Most common forms of osteoporosis

A

Senile and Postmenopausal

often signified by atraumatic or vertebral compression fracture

226
Q

Cranial nerves affected by DMII

A

III, VI, VII

227
Q

How do you treat Guillain Barre

A

Plasmapheresis, IVIg

228
Q

Methotrexate MOA

A

Short story: Dihydrofolate Reductase inhibitors
Long story: polyglutimation to MTX glu(n)
Accumulates in cells
Also blocks Thymidilate Synthase and AICAR transform.
AICAR buildup causes adenosine efflux
Adenosine binds GPCRs on cell surface for anti-inf.

229
Q

Chondroma

A

Cartilage forming
Benign, 30-50 years old
Commonly found in small bones of hands and feet
Circumscribed hyaline cartilage nodule in medulla

230
Q

Morton Neuroma

A

Metatarsalgia, histological lesion: Perineural fibrosis

Interdigital nerve at intermetatarsal sites, common in W

231
Q

Short-lasting, non-depolarizing muscle relaxants

A

Mivacurium

232
Q

Aldrenoate MOA

A

Bisphosphonate: Pyrophosphate analog (gets into bone, inhibit resorption)

233
Q

Saber shin

A

Massive reactive periosteal bone deposition on medial and anterior surfaces of the tibia
Found in congenital syphilis

234
Q

Markers in Synovial Sarcoma

A

Keratins, Epithelial markers

235
Q

Lab data findings in Myesthenia Gravis

A

Ach receptor Abs
MUSK abs, LRP-4 abs
EMG findings: decremental response on repetitive stim
Increased Jitter on single fiber EMG

236
Q

Indications for AchE inhibitors

A 
Myesthenia Gravis
Anesthesia Reversal
Glaucoma
Demetia
Anti-Cholinergic poisoning
237
Q

MUSK syndrome

A

seen in seronegative Myasthenia gravis: 3 types
Oculopharyngeal (maybe tongue, face) weakness
Neck, shoulder, respiratory weakness
Indistinguishable for Ab+ MG

238
Q

Indications for Methotrexate

A

80% of RA patients, fast and safe within 3-6 weeks

once a week, oral or IV. Supplement with folate.

239
Q

Axilla / crutches N compression

A

Radial N, Wrist drop, Tricep involvement, sensory loss

240
Q

What do you give a gout patient who does not tolerate allopurinol?

A

Febuxostat

241
Q

Tx inflammatory (non-infectious) myopathis

A
  1. Corticosteroids
  2. Immunosuppressives
  3. IVIg, cyclophosphamide, cyclosporine, rituximab
242
Q

Denuded Axon

A

Stimulus for remyelination (with shorter internodes)

Found in Segmental demyelination

243
Q

Genetics of Malignant hyperthermia

A

AD RYR1 mutation (sometimes causes central core disease)

Anasthetic triggers Ca efflux for tetany and heat

244
Q

3 NSAIDs used to manage gout

A

Naproxen
Indomethacin
Selecoxib

245
Q

PNS lesions signs (general)

A

Lower Motor
Distal paresis, flaccid tone, atrophic muscle, maybe fasciculations
Hypoactive DTRs, Absent Babinski, Hand and feet sensory loss

246
Q

Anterior interosseous N compressions

A

Median N, Abnormal pinch sign, normal sensation

247
Q

Nodular fasciitis presentation and genetics

A

Self-limited young adults upper extremity

t(17;22) MYH-USP6 fusion gene

248
Q

Rituximab MOA

A

Binds CD20

Greater effects on RA w/ Rheumatoid factor, CCP

249
Q

Cheiralgia paresthetica

A

Radial N, Paresthesias in dorm of hand

250
Q

Axon damage vs axonal degeneration

A

Degeneration has primary destruction of axon with secondary disintegration
Axon damage has whole neuron body or axon damage

251
Q

Type of collagen found in synarthroses

252
Q

Genetics of chondrosarcoma

A

Most are de novo
Mut EXT gene: multiple osteochondroma syndrome
Chondromatosis-related and sporadic chondrosarcomas maybe have IDH1 / 2 genes

253
Q

Ewing Sarcoma

A

Unknown origin
Malignant, 10-20 years old
Commonly found at diaphysis of long bones
Sheets of primitive small round cells

254
Q

Ilioinguinal N compression

A

at abdominal wall, from trauma or surgery

direct hernia, sensory loss in iliac crest, crural area

255
Q

Tizanadine MOA

A 
Centrally acting spasmolytic
a2 agonist (like clonidine)
256
Q

Joint appearance of osteoarthritis

A

Joint Mice: slugged chunks of cartilage
Eburnation: subchondral bone exposed, rubbed smooth
Subchondral cysts
Osteophytes form: nerve root compression

257
Q

Polymyositis presentation

A

Adult onset, Myalgia and weakness (NO SKIN SX)

Symmetrical proximal muscle involvement

258
Q

Abnormal clavicles, Wormian bones, supernumerary teeth

A

Cleidocranial dysplasia

RUNX2 transcription factor mutation

259
Q

Three general characteristics of Myasthenia Gravis

A

Fluctuating Weakness (excessive fatiguability)
Distribution of weakness
Ocular first, ptosis and diplopia
Dysarthria, plagiarism, limb and neck weakness, respi
Clinical response to cholinergic drugs

260
Q

Toxicities of Sulfasalazine

A

Sulfa drug

261
Q

3 major AIDS neuropathies

A

Distal symmetrical polyneuropathy
Acute inflammatory demyelinating polyneuropathy
Chronic inflammatory demyelinating polyneuropathy

262
Q

-Ximab

A

Chimeric monoclonal Ab

263
Q

Synovial sarcoma genetics

A

t(x;18)(p11;q11)
SS18-SSX1/2/4 fusion proteins
Chimeric transcription factors, interrupts cell cycle control

264
Q

Clinical application of Cinacalcet

A

Primary hyperparathyroidism

Secondary from CKD

265
Q

Woven Bone

A

Rapidly developed: fetal and bone repair

Haphazard arrangement, less structural integrity, uncommon in adults

266
Q

What three factors disproportionately predispose women to osteoporosis?

A

Adolescent: low calcium intake
Post-Menopause: Estrogen Deficiency
Treatments for breast cancer (Tamoxifen)

267
Q

Dantrolene MOA

A

Non-centrally acting spasmolytic

Blocks Ca release, treats malignant hyperthermia

268
Q

VHL

A

Hemangioblastoma of cerebellum / spine
Retinal angioma
AD 3p25 for VHL gene and protein

269
Q

Short, broad, terminal phalanges of first digits

A

Brachydactyly D and E

HOXD13 transcription factor mutation

270
Q

Spiral groove N compression

A

Radial N, Abnormal sleep, wrist drop and sensory loss

271
Q

Renal Failure Labs

A

Low Ca, High P, Normal/high Alk Phos

272
Q

Pott disease

A

Tuberculous spondylitis

Permanent compression fractures

273
Q

Phase 1 vs Phase 2 depolarizing block AchE antagonists

A
  1. Augmented by AchE antagonists

2. Reversed by AchE antagonists

274
Q

Tuberculoid leprosy

A

Active and cell mediated
Granulomatous nodules
Localized nerve involvement, cutaneous nerves, Schwann cells and myelin lost, fibrosis of peri- and endoneurium

275
Q

Tofacitinib MOA

A

JAK3 antagonist

Directly suppresses IL-17, IFNy, CD4 T cells

276
Q

Phase 2 depolarizing block physiology

A

End plate depolarization decreases
nAchR behaves in prolonged closed state
receptor desensitization

277
Q

Ragged red fibers

A

Abnormal mitochondria under sarcolemma
Red Trichrome stain
Distortion of myofibrils
“parking lot” inclusions

278
Q

Presentation of severe osteopetrosis

A

Severe: CN Deficits (Deafness, Optic atrophy, Facial paralysis) Post-partum mortality (fractures, anemia, hydrocephaly)

279
Q

Reactive Arthritis Triad

A

Arthritis, Urethritis / Cervicitis, Conjuctivitis

Extra-articular: Conjuctivitis, Cardiac Conduction, Aortic Regurgitation

280
Q

How does polymyositis happenq

A

CD8 T cells in endomysium, necrotic and regenerating fibers scattered throughout fascicle
Endomysial mononuclear infiltrate
Random distribution of affected fibers

281
Q

Presentation of Osteosarcoma

A

Bimodal age: 75% below 20 years old, 2nd peak in older males with Paget, prior radiation
Around the knee

282
Q

Most common cervical root compressions

A

C5-6: C6 root

C6-7: C7 root

283
Q

Presentation of CMT

A

1: second decade of life, slowly progressive, demyelinating motor and sensory
2: Early childhood

284
Q

Common metastasis of chondrosarcoma

A

Lungs

Direct correlation between grade and behavior (worse px with higher grade)

285
Q

Target fibers

A

Rounded zone of disorganized myofibers in center of fiber

286
Q

What are the most common sources of skeletal Metz?

A

Prostate, breast, kidney, lung

287
Q

Osteogenesis Imperfecta Type I

A

Normal Life, fewer fractures following puberty
AD
Decreased Pro-a1, abnormal pro-a1/2

288
Q

Desmoid Tumor

A

Deep fibromatosis, large, frequent, painful
Teens-30s, mostly women
APC or b-catenin mutations - WNT signaling
FAP (gardner syndrome) predisposition

289
Q

Abatacept MOA

A

Prevents CD28 binding CD80/86
Its a CTLA4 and IgG1 Fc fusion protein
can cause serious infections

290
Q

Treatment of Osteoid Osteoma

A

Radiofrequency Ablation

291
Q

Hydroxychloroquine toxicities

A

Retinal damage at higher doses

292
Q

Raloxofene MOA

A

SERM (good for treating osteoporosis [except tamoxifen], strengthens bone)

293
Q

Pathophysiology of dermatomyositis

A

Anti-Mi2 auto-ab (rash and papules)
Anti-Jo1 (mechanics hands)
Anti-P155/140 (paraneoplastic and juvenile)

294
Q

Osteoblastoma

A

Bigger than osteoid osteoma (above 2cm)
Involves posterior spine, no bony reaction
Pain DOES NOT respond to aspirin
Curetted or excised: malignant transformations are rare

295
Q

Rb

A

Pineblastoma (trilateral Rb)
Leukokoria
13q14
Rb1 gene and protein

296
Q

Pralidoxamine

A

Cholinesterase reactivator

297
Q

Osteopetrosis genetics

A

CLCN7 mutation causing Carbonic Anhydrase 2 def
Chr 8:q22
Severe is AR, Mild is AD

298
Q

What pathogen are sickle cell patients predisposed to giving them osteomyelitis?

A

Salmonella

299
Q

Glucocorticoids can be used while waiting for RA drugs to kick in. MOA?

A

GR complexing with NF-kB and AP-1 for indirect immunosuppression
Lipocortin (PLA2 inhibitor) is among genes activated

300
Q

Baker Cyst

A

Synovial, in the popliteal space

Associated with RA

301
Q

How to Prevent gout (4)

A

allopurinol, febuxistat, pegloticase, probenecid

302
Q

What builds up in the joint with gout?

A

Monosodium urate

303
Q

Genetics of Myotonic dystrophy

A

CTG trinucleotide repeat expansion
19q13.2-q13.3 Myotonic dystrophy protein kinase (DMPK)
Anticipation

304
Q

Combo treatment with sulfasalazine for RA

A

+Hydroxychloroquine and/or MTX

305
Q

Presentation of Paget disease

A

Bowing of femurs and tibia, makes osteoarthritis
Chalk-stick type fractures of leg long bones
Compression fractures of spine, injury, kyphosis
Hypervascularity, warm skin, High output HF
Increased Serum Alk Phos, NL Ca++ and P
Lion face, Platybasia

306
Q

Paget genetics

A

SQSTM1 mutation increased NF-kB, osteoclast activity

This represents 5-10%, its both genetic and environment

307
Q

Alveolar Rhabomyosarcoma

A

20%, Kids, FOX01 gene to PAX3 (2;13) or 7 (1;13)

PAX3 is a transcription factor for skeletal muscle differentiation

308
Q

Myeloma Labs

A

Increased Ca, normal/high P, Normal Alk Phos

309
Q

Three major conditions associated with Osteonecrosis

A

Bisphosphonate therapy (especially jawbones)
Corticosteroids
Trauma

310
Q

IFN-b-1a/b MOA

A

Acts on BBB by binding VLA-4, preventing T binding
Inhibits T cell MMP expression
Treats MS

311
Q

Osteomalacia Labs

A

Low Ca, Low P, High Alk Phos

312
Q

HGPRT

A

Hypoxanthine guanine phosphoribosyl transferase

Breaks down uric acid, deficiency causes gout

313
Q

Traumatic Neurona

A

Failure of outgrowing axons to find target
Painful nodule
Parallel fibers with Haphazard axons, Schwanns, CT

314
Q

Needle EMG abnormalities in Ant Interosseous Syndrome

A

FPL, FDP, PQ

315
Q

Most common paraneoplastic neuropathy

A

Sensorimotor w/ Small cell lung CA

316
Q

Lambert Eaton Presentation

A

Paraneoplastic from Small cell lung cancer
Repetivie stimulation increases muscle response (This is opposite of myasthenia gravis!)
Proximal muscle weakness and autonomic dysfunction

317
Q

Lamellar bone

A

Parallel collagen, stronger

Grows slowly

318
Q

Presentation of osteogenesis imperfecta II

A

Death in utero
Respiratory problems
Accordion - like limb shortening

319
Q

-Umab

A

monoclonal Ab of human origin

320
Q

C6 dermatome

A

Thumb / index finger

321
Q

Most common neoplasm in women

A

Leiomyoma of Uterus (aka fibroid)

322
Q

M-CSF and bone formation

A

Receptor on osteoclast precursor

stimulates Tyrosine Kinase cascade for Osteoclast

323
Q

Clinical clues to Gonorrhea causing infectious arthritis

A

Late compliment deficiency

Negative synovial fluid culture and gram stain

324
Q

Pronator syndrome

A

INsitidous onset of dull ache at proximal forearm
Diffuse numbness of hand mostly in 3-4th fingers
absence of nocturnal awakening because of pain

325
Q

C8 dermatome

A

Fourth / fifth finger

326
Q

Treatment of Myasthenia Gravis

A 
Anticholinesterase drugs (like Mestinon)
Prednisone
Other Immunosuppresives 
Plasma exchange / IGIg
Thymectomy maybe
327
Q

Genetics of Charcot-Marie-Tooth

A

1: AD Chr 17, for Peripheral myelin Protein 22 (PMP22)
X-Linked
2: AD, MDN2 gene for mitochondrial fusion. Axon injury

328
Q

Giant cell tumor of bone

A

Osteoclastoma (consider brown tumor of hyperPTH)
20-40 years old, benign
Arises in epiphyses, may go into metaphysis
Arthritis like: Distal femur, proximal tibia
Most recur after curettage, 4% mets to lungs

329
Q

Two sites of Peroneal N compression

A

Fibular Neck: leg crossing/sqiatting, Foot drop, weak eversion and dorsiflexion, sensory loss in dorm of foot
Anterior compartment: from muscle edema. Foot drop.

330
Q

Hu Ab

A

Carcinomatous sensory neuropathy

331
Q

Floppy baby

A

Spinal musclar atrophy: destruction of anterior horn cells
Werning Hoffman most common (type 1)
Or can be Pompe

332
Q

Bone Metastasis Labs

A

High Ca, Normal/high P, High Alk Phos

333
Q

Metachromatic Leukodystrophy

A

arylsulfatase A deficiency

334
Q

Histologic appearance of regenerating muscle fibers

A

Rich in RNA: basophilic

Enlarged nuclei, nucleoli randomly distributed in cytoplasm

335
Q

Segmental demyelination

A

Schwann cell damage to myelin sheath (Guillain-Barre)
No primary abnormality of axon, not all Schwann cells
Random internodes are remyelinated, axons and myocytes remain intact
Onion Skin Schwann cytoplasm

336
Q

Rasburicase

A

Non-PEGylated recombinant uricase

prevents acute uric acid nephropathy from Tumor Lysis Syndrome

337
Q

Obturator N compression

A

From pelvic fracture or tumor

sensory loss in medial thigh, weak hip adduction

338
Q

Treatment for Multifocal Motor Neuropathy

A

IVIg first, maybe other immunosuppression as secondary options

339
Q

T10 dermatome

340
Q

Osteochondroma (aka exostosis)

A

Cartilage forming
Benign, 10-30 years old
Common at metaphysics of long bones
Bony excrescence with cartilage cap

341
Q

Mazabraud syndrome

A 
Fibrous dysplasia (usually polyostotic)
Skeletal deformities in childhood
Soft tissue Myxomas

NMSP (7 decks)

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