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Week 4 (Exam 2) Flashcards

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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
Severe limb shortening and bowing, frontal bossing, depressed nasal bridge, Small Chest Cavity (respiratory insufficiency)
Thanatophoric dysplasia FGFR3 Receptor Mutation Most lethal form of dwarfism
26
Genetics of Osteochondroma
EXT1 / 2 gene in sporadic, encode heparin sulfate GAGs | Multiple: AD, progresses to chondrosarcoma
27
4 Mitochondrial pathologies
Point DNA nut: Leber Hereditary Optic Neuropathy Nuclear DNA genes: Leigh and Barth Syndromes mtDNA deletions/duplications: Kearns-Sayre
28
Sulfinpyrazone
Similar to probenecid
29
HMSN 2
Charcot-Marie-Tooth II AD, axonal, adults Distal symmetric atrophy, arreflexia, normal conduction
30
Fabry's Disease
a glactosidase deficiency
31
Primary hyperparathyroidism labs
High Ca, Normal/Low P, Normal/high Alk Phos
32
Neuronal damage involved in varicella zoster
Large motor neurons in ant horns | Cranial nerve motor nuclei
33
Presentation of VHL
``` Polycythemia (EPO expression) Hemangioblastomas Cysts Renal Cell Carcinoma Pheochromocytoma ```
34
Sulfasalazine MOA
RA: Sulfpyradine is active drug IBD: 5-ASA is active drug parent molecule releases adenosine, inbits NFkB
35
Posterior interosseous N compression
Radial N, paresis of finger extensors, radial wrist deviation
36
Single gene defect in LRP5
Linked to Osteoporosis
37
Genetics of Liposarcoma - myxoiy and round cell type
t(12;16)(q13;p11) FUS-DDIT3 fusion protein Arrests adipocytic differentiation
38
Short stature, rhizometric shortening of limbs, frontal bossing, midfeace deficiency
Achondroplasia | FGFR3 Receptor Mutation
39
Osteosarcoma
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
40
Drugs that decrease uric acid production
Xanthine oxidase inhibitors | Recombinant uricase
41
Osteopontin (aka osteocalcin)
from osteoblasts Bone formation, mineralization, calcium homeostasis sensitive and specific for osteoblast activity
42
Nerve gas antidote
Atropine: 2-6mg q5-10mins 2-pralidoxime chloride (2-PAM): 1gm IV 20-30 min Seizures? benzos only
43
Two considerations for pure sensory neuropathy
``` Sensory Gangionopathy (Paraneoplastics, toxins) Small fiber nueropathy (pain/temp, all else preserved) ```
44
Ring fiber, sarcoplasmic mass
Myotonic dystrophy
45
Cyclobenzaprine MOA
Centrally acting spasmolytic, unknown
46
Genetics of Myasthenia Gravis
High frequency of HLA-B8 and DR3
47
Distiguish Chronic Inflammatory Demyelinating Polyradiculoneuropathy from Guillain Barre
CIDP responds to steroids, Guillain Barre Doesn't
48
Histology of chondrosarcoma
Calcified matrix appears as foci of flocculent densities | Cellular atypia: bizarre giant cells, multiple nuclei
49
Ewing sarcoma Genetics
t(11;22)(q24;q12) and t(21;22)(q22;q12) | EWS-FLI1 and EWS-ERG fusion proteins
50
Bone effects of post-menopausal osteoporosis
Increased osteoclast activity: Trabeculae are perforated and thin, causing micro fractures and vertebral collapse
51
Paget's labs
Normal Ca, Normal P, High Alk Phos
52
Three manifestations of fibromatoses
Palmar: Dupuytren contracture (4/5th fingers) Plantar (no contracture, unilateral, young) Penile: Peyronie Dz: dorsolateral, causes curve
53
Presentation of Dermatomyositis
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
54
first, second, third line treatments of gout
NSAIDs Colchicine Steroids
55
Cubital tunnel syndrome
Ulnar nerve, clawing of 4th and 5th fingers
56
Criteria for osteopenia vs osteoporosis
Osteopenia: 1 - 2.5 standard deviations low Osteoporosis: 2.5+ standard deviations low
57
Multinucleated Macrophages derived from circulating monocytes
Osteoclasts
58
Osteoprotegrin
Decoy recepto made by osteoblasts Binds RANKL and prevents it from interacting with RANK (builds)
59
Neuropathies associated with the thyroid
Hypo-: Compression mononeuropathies (Carpal tunne;l) | Hyer-: Resembles Guillain Barre
60
T4 dermatome
Nipple line
61
Presentation of mild osteopetrosis
Repeated fractures, diagnosed in adolescence or adulthood | Mild CN deficits and anemia
62
Toxicities of Tocilizumb
URIs, life-threatening infections
63
Presentation of mycobacterial osteomyelitis
Localized pain, fevers, chills, weight loss | Caseous necrosis and granulomas
64
osteomyelitis findings in kids
Subperiosteal abscesses: dissect for long distances along bone surface: lifting the periosteum impairs blood supply and contributes to necrosis Sequestrum (dead bone) forms afterward
65
Subchondral vs medullary bone infarcts
Medullary are usually silent, involve trabecular bone | subchondral: painful, become constant, wedge-shape
66
McArdle Dz
Myophosphorylase Deficiency Glycogen storage disease Muscle damage with exercise
67
reverse depolarizing muscular blockade
wait
68
Blastic vs lytic bone lesions in metastatic bone cancer
Blastic: Prostatic adenocarcinoma Lytic: Bone destroying, kidney, lung, GI
69
Febuxostat MOA
Xanthine Oxidase Inhibitor
70
Imaging of Osteosarcoma
X-ray: mixed lytic and plastic mass, Codman Triangle (elevation of periosteum) Hematogenous spread to lungs, bone, brain.
71
Tariparatide MOA
Truncated version of endogenous 1-84 PTH | Increases bone deposition when given in pulses, once daily injection
72
Leigh Syndrome
Subacute necrotizing encephalopathy
73
Signaling molecules of RA
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)
74
Familial Amyloid Polyneuropathies
Amyloid deposition within peripheral nerves
75
Toxicities of MTX
Fetal death and congenital abnormalities
76
Ewing sarcoma Presentation
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
77
Denosumab Toxicities
Delays fracture healing New Fractures Osteonecrosis of jaw
78
MUSK syndrome treatment
Poor response to anticholinesterase meds, thymectomy PLEX, IGIg, Rituximab are best Remission is possible
79
Genetics of EMD
X-linked EMD1 | AD EMD2
80
Osteogenesis Imperfecta Type II
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)
81
NF-2 syndrome
Bilateral Acoustic Schwannomas (CN VIII) Meningiomas, ependymomas NF-2 Plaque 22q12 NF2 gene for Merlin
82
RA hand signs
Boutonniere: hyperextended DIP, Flexed PIP Swan-Neck: Hyperextended PIP, flexed DIP Ulnar deviation of fingers Radial deviation of wrist
83
Inguinal ligament N compression
Femoral N from being in Lithotomy position | Weak Knee extension, absent knee jerk
84
Adverse effects of allopurinol
Stevens Johnson Syndrome (esp w/ HLA-B5801)
85
Tx of Paget
Calcitonin and Bisphosphonates suppress sx
86
Mitoxantrone MOA
Intercalates DNA, causes strand breaks, X-links | Treats MS, other neoplasms
87
Bone effects of Senile Osteoporosis
Cortex thinned by subperiosteal and endosteal resorption | Haversian system widened (may mimic cancellous bone)
88
Nerve findings in DMII
Most common: ascending distal symmetric sensorimotor Segmental demyelination, fewer axons Endoneurial arterioles thick, hyaline, PAS+ Autonomic (Postural HPTN, Seuxal, Bladder) Dysfxn
89
Osteoarthritis presentation
Men: Hips, Women: Hands and Knees | Evening stiffness, crepitus, WORSE w/ USE
90
Probenecid indications
underexcreters with GFR below 60, no stones | Pts w/ hyperuricemia, frequent attacks, tophi
91
NF-1 Neurofibroma appearance
Superficial, cutaneous Plexiform: Bag of Worms Can transform to malignant MPNST (triton tumor subtype)
92
Presentation of myotonic dystrophy
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
93
Guytons canal compression
Ulnar N, hypthenar atrophy, variable sensory loss
94
Ollier syndrome
Multiple enchondromas
95
Medial malleolus Nerve compression
Posterior Tibial N from ankle fracture, tenosynovitis | sensory loss in sole of foot
96
Parsonage/turner Syndrome
Severe pain in shoulder area followed by weakness and atrophy of shoulder girdle Spontaneous recovery in 6-18 months, steroids help
97
Small fiber polyneuropathy clinical features
Pain, burning, paresthesias Decreased pin-prick, temp. Normal EMG/CNV Decreased epidermal nerve fiber density on bx
98
Neuropathies associated with Monoclonal Gammopathies (B-cell cancers)
POEMS: polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes Deposition of Paraprotein between non-compacted myelin lamellae
99
Presentation of liposarcoma
Deep soft tissue of proximal extremities and retroperitineum Recur locally and repeatedly unless completely excised Myxoid (intermediate) is most common, Abn mitoses
100
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Symmetrical mixed sensorimotor polyneuropathy | Longer than 2 months
101
Presentation of osteoid osteoma
Usually worse at night | Responds to Aspirin and NSAIDs
102
Specific treatments for Botulinum
``` Antitoxin (can cause serum sickness, anaphylaxis) Guanidine Hydrochloride (ca suppress bone marrow) ```
103
Pathognomonic for Gout
``` Gouty Tophus (white crystal inclusion) 50% of the time its in the proximal big toe ```
104
Nerve gas
inhibit Ach esterase at NM junction to cause end organ overstimulation. Death my respiratory failure
105
Mononeuritis multiplex
Several nerves damaged haphazardly | Often from vasculitis, Polyarteritis Nodosa
106
Three sources of secondary gout and how that affects uric acid excretion
``` NA turnover (leukemia): more production and excretion CRD: Normal production, less excretion Congenital (L-N, HGPRT def): More of both, again ```
107
B cell follicles in the thymus
Myesthenia gravis
108
Genetics of Ewing Sarcoma
85% show t(11;22) (q24:q12) EWS-FL11 fusion gene The amount of chemo-induced necrosis is px
109
Allopurinol MOA
Competitive inhibitor of Xanthine Oxidase | Hypoxanthine and xanthine are excreted
110
What sensations are affected by large myelinated fibers?
Light touch, two-point discrimination, vibration, joint position sense
111
Treatment for CIDP
IVIg, steroids, plasma exchange, immunosuppressives
112
Presentation of TSC
``` Seizures, autism, retardation Cortical Tubers Renal Angiomyolipomas Pulmonary lymphangioleiomyomatosis Cardiac Rhabdomyomas Angiofibromas, Subungual fibromas, Shagreen, Ashleaf ```
113
Long-lasting, non-depolarizing muscle relaxants
Doxacurium Pancuronium Pipecuronium
114
Raloxofene Toxicities
DVT, PE, Stroke
115
Most common Lumbar root compressions
L4-L5: L5 root | L5-S1: S1 root
116
Diptheria
Exotoxed in, begins with paresthesias and weakness Loss of proprioception and vibratory sensation Peripheral neuropathy w/ bulbar and respiratory disfxn
117
Osteoporosis tx
Bisphosphonates (decreased osteoclast activity) Hormone therapy Denosumab (anti-RANKL) Anti-Sclerostin and Cathepsin K inhibitors investigational
118
Identify a hypertrophic muscle cell
Longitudinal, thin splitting
119
Acute vs chronic gouty nephropathy
Acute: Uric acid in tubules Chronic: Monosodium urate in medullary interstitium
120
Hydroxychloroquine MOA
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
121
Lambert-Eaton etiology
Auto-immune attack against voltage gated calcium channels on presynaptic terminal Often associated with CA
122
Zolendroic Acid
Bisphosphonate that has fewer GI problems, but a strong jaw osteonecrosis problem
123
Presentation of metastatic tumors of the skeleton
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
124
Osteoid Osteoma
Bone forming Benign, 10-20 years old Commonly in metaphysics of long bones (femur, tibia) Cortical, interlacing microtrabeculae of woven bone
125
Baclofen MOA
Centrally Acting Spasmolytic | GABAb agonist
126
Wallerian Degeneration
Distal result of a traumatic axon transection
127
McCune-Albright Dz
Bone lesions Unilateral, Cafe au Lait spots Precocious puberty GNAS mutation
128
Tocilizumab MOA
Anti-human IL-6 Ab, competing for its receptors
129
LPR5 Receptor mutation
Osteoporosis or osteoporosis
130
Three major findings in chronic osteomyelitis
Involucrum: Shell of living tissue around area Brodie Abscess: walled off by reactive bone Sclerosing osteomyelitis of Garre: Jaw
131
Rhabdomyosarcoma genetics (alveolar type)
t(2;13)(q35;q14) and t(1;13)(p36;q14) PAX3/7-FOXO1 fusion proteins Chimeric transcription factors, disrupt skeletal muscle differentiation
132
Pathophysiology of Lambert Eaton
Proximal muscle weakness and autonomic dysfunction
133
Sclerostin
Inhibits WNT (bone growth)
134
Presentation of Osteogenesis imperfecta type I
``` Normal lifespan, lots of bone breaks esp before puberty Loose Joints Blue / purple / gray sclerae Brittle Teeth Hearing loss Triangle Face ```
135
Colchicine MOA
Binds to tubular, prevents microtubule formation | Inhibits leukocyte migration, phagocytosis
136
Phase 1 depolarizing block physiology
Membranes remain depolarized, don't depolarize | Flaccid Paralysis
137
Histology of inclusion body myositis
Rimmed vacuoles highlighted by basophilic granules around periphery, endomysial fibrosis
138
Edetate Disodium
Calcium chelating agent, can be dangerous
139
Toxic myopathies
Statins Chloroquine and hydroxychloroquine ICU myopathy (myosin deficit myopathy): steroids Thyrotoxic: Eyelid swelling, proximal weakness Alcohol: rhabdomyolysis
140
Toxicities of Tofacitinib
Serious, maybe fatal infections Opportunistic pathogens increased malignancies
141
Build vs breakdown signaling components
Build: Estrogen, Testosterone, Vit D Breakdown: PTH, IL-1, Glucocorticoids
142
Genetics of Osteosarcoma
Rb gene TP53 (Li-Fraumani syndrome: breast cancer) INK4a, MDM2, CDK4
143
NF-1 Syndrome
Optic pathway glioma Cafe au Lait spots Lisch nodules 17q11 for Neurofibromin
144
What osteoarthritis finding is almost exclusively founding infants?
Septic or suppurative arthritis: epiphyseal infection spreads through articular surface or along capsular and tendoligamentous insertions into joints
145
Maffucci syndrome
Multiple enchondromas + angiomas Increased risk of chondrosarcoma IDH1 and 2
146
Reverse a non-depolarizing muscular blockade
AchE inhibitors | adding anti-cholinergic helps minimize effects
147
Salmon MOA
Calcitonin: inhibits osteoclasts | Can tx osteoporosis but not prevent it
148
aANCA
Systemic Vasculitis
149
Acid maltase deficiency
Adult form, respiratory and trunk muscles affected | Pompe: generalized glycogenesis of infancy
150
T1 Dermatome
Medial forearm
151
Ganglion cyst
Usually on the wrist. Firm, fluctuant, translucent | Cystic or myxoiy degeneration, lacks cell lining
152
Limb girdle muscular dystophy
Weakness preferentially affecting proximal muscle groups | AD and AR, variable onset
153
How do long bones develop?
Endochondral ossification Cartilage mold = anlagen New bone at bottom of growth plates, longitudinal growth
154
RANK
Receptor activator for NF-kB on oteoclast precursors | Stimulated by RANKL (breakdown) on osteoblasts and marrow stromal cells
155
Osteoporosis diagnostics
Bone mineral density test (DEXA scan)
156
Miller-Fisher Syndrome
Variant of Guillain Barre Ophthalmoplegia, ataxia, arreflexia Facial weakness, dysarthria, dysphagia maybe GQ1b and GT1a Abs
157
Angulated fibers
Atrophic fibers are smaller and triangular when denervated
158
Carisoprodol MOA
Centrally Acting Spasmolytic, unknown | addictive potential, metabolized to meprobamate (anxiolytic effects)
159
Pegloticase MOA
Recombinant Mamallian Uricase Covelantly attaches to Methoxy PEG Converts uric acid to soluble allantoin for chronic gout
160
TNF inhibitors
Etanercept: SubQ 1-2x/week Infliximab: IV q6w Adalimumab: SubQ q2w others: certolizumab, golimumab
161
Probenecid MOA
Organic acid, blocks urate reabsorption more than secretion
162
Tangier Disease
HDL Deficiency
163
L4 dermatome
Medial Calf
164
Tuberous Sclerosis
Subependymal giant cell astrocytoma ash-leaf spots Retinal astrocytoma (mulberry lesion) AD 9q34 TSC1 gene for Hamartin
165
Flab bone ossification
Intramembranous | New bone on preexisting surface: appositional growth
166
Drugs to increase uric acid renal excretion
Uricosuric drugs
167
Antoni A vs Antoni B NF2
A: spindle cells, Verocay bodies, Palisading around nuclear free zones B: Hypocellular, myxoid extracellular matrix
168
Leflunamide MOA
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
Gardner syndrome
10-15 years old APC mutation Multiple adenomas Osteomas, thyroid and Desmond tumors, skin cysts
170
Botulinum MOA
Non-centrally acting spasmolytic | Cleaves VAMP to prevent pre-synaptic fusion, inhibits Ach
171
Curare
Muscle relaxant, blocks AChR for flaccid paralysis | Botox is what blocks release of ACh
172
Denosumab MOA
RANKL inhibitor (decreases osteoclast fxn), given subQ every 6 mos
173
Osteoporosis Labs
Normal
174
Histology of dermatomyositis
Perifascicular atrophy
175
Froment Sign
Ulnar neuropathy: Obama thumb flat is normal. | Positive sign is arched Obama thumb
176
Genetics of Spinal Muscular Atrophy
AR, SMN1 (survival motor neuron 1) on Chr 5
177
HIV neuropathy vs Lyme
HIV: Mononeuritis Multiplex (demyelinating) Later stages associated with distal sensory neuropathy Resembles Guillain barre or CIDP Lyme: Polyradiculoneuropathy, Facial nerve palsies
178
Gorlin Syndrome
Medulloblastoma Basal Cell carcinomas 9q22.3 for PTCH gene
179
Anti MAG Ab
MGUS associated neuropathy
180
Hypoparathyroidism Labs
Decreased Ca, High P, Normal Alk Phos
181
L1 dermatome
Inguinal
182
Barth Syndrome
Infantile x-Linked cardioskeletal myopathy
183
Hand signs of Psoriatic Arthritis
Pencil-in-cup deformity Pitting in nails Separation of nail from nail bed
184
Antibodies founding Acute Motor axonal neuropathy (AMAN) and Acute Motor and Sensory Neuropathy (AMSAN)
GM1, GM1b, GD1a
185
Chondrosarcoma
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
Cotton wool lamellar bone
Paget sclerotic phase | Jigsaw-like appearance with prominent cement lines
187
Anakinra MOA
Recombinant, non-glycosylated IL-1 antagonist
188
Treatment of Lambert-Eaton
``` Tx Malignancy AchE (Mestinon maybe) Amifampridine 3-4 Diaminopyridine Guanidine hydrochloride Immunosuppression, IVIg ```
189
Distinguish Gout from Pseudogout on microscopy
Psuedogout crystals are positively birefringent, regular gout is negative. Psuedogout is Calcium pyrophosphate: Purple ovals
190
The three phases of Sclerotic Phase Paget Dz
Initial Lytic phase (osteoclasts with 100 nuclei) Mixed: Clasts persist, blasts too Final: Burned out quiescent osteoclerotic Can become sarcomatous
191
Etiology of myasthenia gravis
Defect of Neuromuscular transmission due to an ab-mediated attack on nAChRs on the muscle membrane
192
Myesthenia Gravis
Most have AChR auto-Abs, some have muscle RTK ones | some have thymoma, more have Thymic Hyperplasia
193
Mitochondrial storage dz presentation
weakness Increased serum CK or rhabdomyolysis Extraocular muscle involvement commonly see Chronic progressive external opthalmoplegia
194
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
AD, Multiple Cutaneous Leiomyomas Uterine Leiomyoma and RCC LOF of chr 1q42.3
195
How to treat Myesthenia gravis
AChE inhibitors Plasmapharesis and immunosupressives Thmectomy
196
Two different kinds of fibrous dysplasia
Monostotic: 70%, usually asx Polyostotic: 27%, crippling deformities
197
Presentation of emery-Dreifuss muscular distrophy
Progressive humeroperoneal weakness Cardiomyopathy Early contractors of achilles, spine, elbows
198
Big clue to cholinergic crisis (seen in myasthenia gravis)
Miosis and/or fasciculations
199
Li-Fraumeni Syndrome
Malignant Glioma | 17q for P53
200
What is the most common pathogen involved in osteomyelitis?
Staph Aureus
201
Joint appearance of RA
Fibrous Ankylosis within joint Bony Ankylosis connecting the bones Eroding cartilage Thick pannus (fibrovascular tissue, granulation)
202
Lab findings in Multifocal motor neuropathy
Elevated GM1 Ab EMG shows conduction block/demyelinating features CSF normal
203
Cowden Syndrome
Dysplastic gangliocytoma of cerebellum Facial trichillemoma 10q23.3 for PTEN
204
Toxicities of Aldrenoat
Esophagitis Jaw Necrosis Abnormal femur fractures
205
Pathophysiology of Lepromatous Leprosy
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
Presentation of inclusion body myositis
Late adulthood, slowly progressive muscle weakness most severe in quads and distal arms Starts distal, asymmetric, dysphagia
207
HLA-B27
Associated with Ankylosing Spondylitis, Reactive Arthritis
208
-cept biologics for RA
Receptor fusion to IgG1 Fc portion
209
Pathophysiology of Guillain barre
Macrophages penetrate bm of Schwann cells, Nodes of Ranvier and strip away myelin Increased CSF protein (inflammation confined to roots)
210
Stocking and glove distribution
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
Hereditary Motor Sensory Neuropathy (HMSN) 1
Charcot-Marie-Tooth I AD, demyelinating, young people Walking, running affected. Arreflexia, atrophy, deformities EMG: slowing of motor nerve conduction velocity
212
HMSN III
Charcot-Marie-Tooth III or Dejerine-Sotas | Severe, demyelinating, childhood
213
Glatiramer Acetate MOA
Mix of L-Alanine, Glutamic Acid, Tyrosine, Lysine Antigenically similar to Myelin Basic Protein Induces T-supressor cells for myelin Ags Treats MS
214
C7 Dermatome
Middle Finger
215
Presentation of Myasthenia Gravis
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
Saturday night palsy
Radial nerve | Upper arm, fell asleep awkwardly
217
Identify regenerating denervated muscle fiber
Red trichrome stain, large central nuclei with prominent nucleoli
218
RANKL mutation
Decreased or absent osteoclasts
219
Cinacalcet MOA
Calcium mimetic | Binds parathyroid, increasing Ca sensitivity, Decreasing PTH
220
Steroid muscle relaxants that cause the least amount of histamine release
Pancuronium Pipercuronium Rocuronium Vecuronuim
221
WNT
Binds LRP5/6 on osteoblasts Triggers activation of B-Catenin and Osteoprotegrin production Inhibited by sclerostin
222
Type 2 fiber atrophy
Inactivity or disuse
223
AchE inhibitors
``` Donepezil, Edrophonium Ambenonium Echothiophate -Stigmine (neo-, physo-, pyrido-, riva-) Galantamine Tacrine ```
224
Histology of Osteoid Osteoma
Central Nidus of translucent woven bone surrounded by rim of osteoblasts (Haphazardly interconnecting trabeculae)
225
Most common forms of osteoporosis
Senile and Postmenopausal | often signified by atraumatic or vertebral compression fracture
226
Cranial nerves affected by DMII
III, VI, VII
227
How do you treat Guillain Barre
Plasmapheresis, IVIg
228
Methotrexate MOA
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
Chondroma
Cartilage forming Benign, 30-50 years old Commonly found in small bones of hands and feet Circumscribed hyaline cartilage nodule in medulla
230
Morton Neuroma
Metatarsalgia, histological lesion: Perineural fibrosis | Interdigital nerve at intermetatarsal sites, common in W
231
Short-lasting, non-depolarizing muscle relaxants
Mivacurium
232
Aldrenoate MOA
Bisphosphonate: Pyrophosphate analog (gets into bone, inhibit resorption)
233
Saber shin
Massive reactive periosteal bone deposition on medial and anterior surfaces of the tibia Found in congenital syphilis
234
Markers in Synovial Sarcoma
Keratins, Epithelial markers
235
Lab data findings in Myesthenia Gravis
Ach receptor Abs MUSK abs, LRP-4 abs EMG findings: decremental response on repetitive stim Increased Jitter on single fiber EMG
236
Indications for AchE inhibitors
``` Myesthenia Gravis Anesthesia Reversal Glaucoma Demetia Anti-Cholinergic poisoning ```
237
MUSK syndrome
seen in seronegative Myasthenia gravis: 3 types Oculopharyngeal (maybe tongue, face) weakness Neck, shoulder, respiratory weakness Indistinguishable for Ab+ MG
238
Indications for Methotrexate
80% of RA patients, fast and safe within 3-6 weeks | once a week, oral or IV. Supplement with folate.
239
Axilla / crutches N compression
Radial N, Wrist drop, Tricep involvement, sensory loss
240
What do you give a gout patient who does not tolerate allopurinol?
Febuxostat
241
Tx inflammatory (non-infectious) myopathis
1. Corticosteroids 2. Immunosuppressives 3. IVIg, cyclophosphamide, cyclosporine, rituximab
242
Denuded Axon
Stimulus for remyelination (with shorter internodes) | Found in Segmental demyelination
243
Genetics of Malignant hyperthermia
AD RYR1 mutation (sometimes causes central core disease) | Anasthetic triggers Ca efflux for tetany and heat
244
3 NSAIDs used to manage gout
Naproxen Indomethacin Selecoxib
245
PNS lesions signs (general)
Lower Motor Distal paresis, flaccid tone, atrophic muscle, maybe fasciculations Hypoactive DTRs, Absent Babinski, Hand and feet sensory loss
246
Anterior interosseous N compressions
Median N, Abnormal pinch sign, normal sensation
247
Nodular fasciitis presentation and genetics
Self-limited young adults upper extremity | t(17;22) MYH-USP6 fusion gene
248
Rituximab MOA
Binds CD20 | Greater effects on RA w/ Rheumatoid factor, CCP
249
Cheiralgia paresthetica
Radial N, Paresthesias in dorm of hand
250
Axon damage vs axonal degeneration
Degeneration has primary destruction of axon with secondary disintegration Axon damage has whole neuron body or axon damage
251
Type of collagen found in synarthroses
II
252
Genetics of chondrosarcoma
Most are de novo Mut EXT gene: multiple osteochondroma syndrome Chondromatosis-related and sporadic chondrosarcomas maybe have IDH1 / 2 genes
253
Ewing Sarcoma
Unknown origin Malignant, 10-20 years old Commonly found at diaphysis of long bones Sheets of primitive small round cells
254
Ilioinguinal N compression
at abdominal wall, from trauma or surgery | direct hernia, sensory loss in iliac crest, crural area
255
Tizanadine MOA
``` Centrally acting spasmolytic a2 agonist (like clonidine) ```
256
Joint appearance of osteoarthritis
Joint Mice: slugged chunks of cartilage Eburnation: subchondral bone exposed, rubbed smooth Subchondral cysts Osteophytes form: nerve root compression
257
Polymyositis presentation
Adult onset, Myalgia and weakness (NO SKIN SX) | Symmetrical proximal muscle involvement
258
Abnormal clavicles, Wormian bones, supernumerary teeth
Cleidocranial dysplasia | RUNX2 transcription factor mutation
259
Three general characteristics of Myasthenia Gravis
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
Toxicities of Sulfasalazine
Sulfa drug
261
3 major AIDS neuropathies
Distal symmetrical polyneuropathy Acute inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy
262
-Ximab
Chimeric monoclonal Ab
263
Synovial sarcoma genetics
t(x;18)(p11;q11) SS18-SSX1/2/4 fusion proteins Chimeric transcription factors, interrupts cell cycle control
264
Clinical application of Cinacalcet
Primary hyperparathyroidism | Secondary from CKD
265
Woven Bone
Rapidly developed: fetal and bone repair | Haphazard arrangement, less structural integrity, uncommon in adults
266
What three factors disproportionately predispose women to osteoporosis?
Adolescent: low calcium intake Post-Menopause: Estrogen Deficiency Treatments for breast cancer (Tamoxifen)
267
Dantrolene MOA
Non-centrally acting spasmolytic | Blocks Ca release, treats malignant hyperthermia
268
VHL
Hemangioblastoma of cerebellum / spine Retinal angioma AD 3p25 for VHL gene and protein
269
Short, broad, terminal phalanges of first digits
Brachydactyly D and E | HOXD13 transcription factor mutation
270
Spiral groove N compression
Radial N, Abnormal sleep, wrist drop and sensory loss
271
Renal Failure Labs
Low Ca, High P, Normal/high Alk Phos
272
Pott disease
Tuberculous spondylitis | Permanent compression fractures
273
Phase 1 vs Phase 2 depolarizing block AchE antagonists
1. Augmented by AchE antagonists | 2. Reversed by AchE antagonists
274
Tuberculoid leprosy
Active and cell mediated Granulomatous nodules Localized nerve involvement, cutaneous nerves, Schwann cells and myelin lost, fibrosis of peri- and endoneurium
275
Tofacitinib MOA
JAK3 antagonist | Directly suppresses IL-17, IFNy, CD4 T cells
276
Phase 2 depolarizing block physiology
End plate depolarization decreases nAchR behaves in prolonged closed state receptor desensitization
277
Ragged red fibers
Abnormal mitochondria under sarcolemma Red Trichrome stain Distortion of myofibrils "parking lot" inclusions
278
Presentation of severe osteopetrosis
Severe: CN Deficits (Deafness, Optic atrophy, Facial paralysis) Post-partum mortality (fractures, anemia, hydrocephaly)
279
Reactive Arthritis Triad
Arthritis, Urethritis / Cervicitis, Conjuctivitis | Extra-articular: Conjuctivitis, Cardiac Conduction, Aortic Regurgitation
280
How does polymyositis happenq
CD8 T cells in endomysium, necrotic and regenerating fibers scattered throughout fascicle Endomysial mononuclear infiltrate Random distribution of affected fibers
281
Presentation of Osteosarcoma
Bimodal age: 75% below 20 years old, 2nd peak in older males with Paget, prior radiation Around the knee
282
Most common cervical root compressions
C5-6: C6 root | C6-7: C7 root
283
Presentation of CMT
1: second decade of life, slowly progressive, demyelinating motor and sensory 2: Early childhood
284
Common metastasis of chondrosarcoma
Lungs | Direct correlation between grade and behavior (worse px with higher grade)
285
Target fibers
Rounded zone of disorganized myofibers in center of fiber
286
What are the most common sources of skeletal Metz?
Prostate, breast, kidney, lung
287
Osteogenesis Imperfecta Type I
Normal Life, fewer fractures following puberty AD Decreased Pro-a1, abnormal pro-a1/2
288
Desmoid Tumor
Deep fibromatosis, large, frequent, painful Teens-30s, mostly women APC or b-catenin mutations - WNT signaling FAP (gardner syndrome) predisposition
289
Abatacept MOA
Prevents CD28 binding CD80/86 Its a CTLA4 and IgG1 Fc fusion protein can cause serious infections
290
Treatment of Osteoid Osteoma
Radiofrequency Ablation
291
Hydroxychloroquine toxicities
Retinal damage at higher doses
292
Raloxofene MOA
SERM (good for treating osteoporosis [except tamoxifen], strengthens bone)
293
Pathophysiology of dermatomyositis
Anti-Mi2 auto-ab (rash and papules) Anti-Jo1 (mechanics hands) Anti-P155/140 (paraneoplastic and juvenile)
294
Osteoblastoma
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
Rb
Pineblastoma (trilateral Rb) Leukokoria 13q14 Rb1 gene and protein
296
Pralidoxamine
Cholinesterase reactivator
297
Osteopetrosis genetics
CLCN7 mutation causing Carbonic Anhydrase 2 def Chr 8:q22 Severe is AR, Mild is AD
298
What pathogen are sickle cell patients predisposed to giving them osteomyelitis?
Salmonella
299
Glucocorticoids can be used while waiting for RA drugs to kick in. MOA?
GR complexing with NF-kB and AP-1 for indirect immunosuppression Lipocortin (PLA2 inhibitor) is among genes activated
300
Baker Cyst
Synovial, in the popliteal space | Associated with RA
301
How to Prevent gout (4)
allopurinol, febuxistat, pegloticase, probenecid
302
What builds up in the joint with gout?
Monosodium urate
303
Genetics of Myotonic dystrophy
CTG trinucleotide repeat expansion 19q13.2-q13.3 Myotonic dystrophy protein kinase (DMPK) Anticipation
304
Combo treatment with sulfasalazine for RA
+Hydroxychloroquine and/or MTX
305
Presentation of Paget disease
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
Paget genetics
SQSTM1 mutation increased NF-kB, osteoclast activity | This represents 5-10%, its both genetic and environment
307
Alveolar Rhabomyosarcoma
20%, Kids, FOX01 gene to PAX3 (2;13) or 7 (1;13) | PAX3 is a transcription factor for skeletal muscle differentiation
308
Myeloma Labs
Increased Ca, normal/high P, Normal Alk Phos
309
Three major conditions associated with Osteonecrosis
Bisphosphonate therapy (especially jawbones) Corticosteroids Trauma
310
IFN-b-1a/b MOA
Acts on BBB by binding VLA-4, preventing T binding Inhibits T cell MMP expression Treats MS
311
Osteomalacia Labs
Low Ca, Low P, High Alk Phos
312
HGPRT
Hypoxanthine guanine phosphoribosyl transferase | Breaks down uric acid, deficiency causes gout
313
Traumatic Neurona
Failure of outgrowing axons to find target Painful nodule Parallel fibers with Haphazard axons, Schwanns, CT
314
Needle EMG abnormalities in Ant Interosseous Syndrome
FPL, FDP, PQ
315
Most common paraneoplastic neuropathy
Sensorimotor w/ Small cell lung CA
316
Lambert Eaton Presentation
Paraneoplastic from Small cell lung cancer Repetivie stimulation increases muscle response (This is opposite of myasthenia gravis!) Proximal muscle weakness and autonomic dysfunction
317
Lamellar bone
Parallel collagen, stronger | Grows slowly
318
Presentation of osteogenesis imperfecta II
Death in utero Respiratory problems Accordion - like limb shortening
319
-Umab
monoclonal Ab of human origin
320
C6 dermatome
Thumb / index finger
321
Most common neoplasm in women
Leiomyoma of Uterus (aka fibroid)
322
M-CSF and bone formation
Receptor on osteoclast precursor | stimulates Tyrosine Kinase cascade for Osteoclast
323
Clinical clues to Gonorrhea causing infectious arthritis
Late compliment deficiency | Negative synovial fluid culture and gram stain
324
Pronator syndrome
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
C8 dermatome
Fourth / fifth finger
326
Treatment of Myasthenia Gravis
``` Anticholinesterase drugs (like Mestinon) Prednisone Other Immunosuppresives Plasma exchange / IGIg Thymectomy maybe ```
327
Genetics of Charcot-Marie-Tooth
1: AD Chr 17, for Peripheral myelin Protein 22 (PMP22) X-Linked 2: AD, MDN2 gene for mitochondrial fusion. Axon injury
328
Giant cell tumor of bone
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
Two sites of Peroneal N compression
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
Hu Ab
Carcinomatous sensory neuropathy
331
Floppy baby
Spinal musclar atrophy: destruction of anterior horn cells Werning Hoffman most common (type 1) Or can be Pompe
332
Bone Metastasis Labs
High Ca, Normal/high P, High Alk Phos
333
Metachromatic Leukodystrophy
arylsulfatase A deficiency
334
Histologic appearance of regenerating muscle fibers
Rich in RNA: basophilic | Enlarged nuclei, nucleoli randomly distributed in cytoplasm
335
Segmental demyelination
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
Rasburicase
Non-PEGylated recombinant uricase | prevents acute uric acid nephropathy from Tumor Lysis Syndrome
337
Obturator N compression
From pelvic fracture or tumor | sensory loss in medial thigh, weak hip adduction
338
Treatment for Multifocal Motor Neuropathy
IVIg first, maybe other immunosuppression as secondary options
339
T10 dermatome
Umbilicus
340
Osteochondroma (aka exostosis)
Cartilage forming Benign, 10-30 years old Common at metaphysics of long bones Bony excrescence with cartilage cap
341
Mazabraud syndrome
``` Fibrous dysplasia (usually polyostotic) Skeletal deformities in childhood Soft tissue Myxomas ```

NMSP (7 decks)

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