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568 Cards in this Set
- Front
- Back
PAGET'S DISEASE PATHOPHYSIOLOGY
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EXCESSIVE BONE TURNOVER BY OSTEOCLASTS +/- ASSOCIATED WITH PARAMYXOVIRUS INFECTION
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PAGET'S S/S
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DEEP BONE PAIN
FREQUENT # INCREASED CRANIAL DIAMETER (=FRONTAL BOSSING) DEAFNESS D/T CN VIII COMPRESSION |
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PAGET'S LAB & XRAY FINDINGS
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INCREASED ALP, URNIARY HYDROXPROLINE
NORMAL Ca, PO4 XRAY - MARKEDLY EXPANDED BONY CORTEX - INCREASED DENSITY, THICKENED TRABECULAE, CHARACTERISTIC "JIGSAW" OR "MOSAIC" BONE PATTERN |
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PAGET'S - Rx
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NSAIDS, CALCITONIN, ALENDRONATE
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Paget's - complications
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#'s, high output cardiac failure, deafness, secondary osteosarcoma
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heliotrope rash
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violacious periorbital rash in dermatomyositis
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Grotton's papules
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papules on dorsum of hand over bony prominences in dermatomyositis
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polymyositis lab and EMG findings
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elevated serum creatine, aldolase, CPK
EMG - fibrillations |
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complications of polymyositis
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myocarditis, cardiac conduction defects, malignancy
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Felty's triad
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hepatosplenomeagly
TCP RA |
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Lab, synovial fluid and Xray findings in RA
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rh factor = anti-Fc IgG Ab - elevated in >75% (not specific)
+/- ESR elevated synovial fluid - turbbid, decreased viscosity, WBC 3000-50000 cells/microL Xray - juxta-articular dimineralization (early) joint space narrowing and erosions (late) |
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JRA - most common type?
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pauciarticular - <30% develop iridocyclitis
ANA type - most common - asymmetric involvement of large joints with iridocyclitis RF type - poor Px - concurrent with AS in HLA-B27+ males |
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Systemic acute febrile JRA
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least common
characteristic arthritis with daily high spiking fevers evanescent salmon coloured rash +/- hepatosplenomegaly and serositis |
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Scleroderma S/S
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thickening of skin of face +/or distal extremities
CREST severe form - pulmonary fibrosis, cor pulmonales, ARF, malignant HTN |
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Anticentromere Ab
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specific for CREST
|
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anti-Scl-70 = anti-topoisomerase 1
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specific for systemic scleroderma
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treatment for scleroderma
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glucocorticoids, penicillamine for skin changes, CCB for Raynaud's, ACEI for renal dz/HTN
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SLE criteria
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DOPAMINE RASH =
Discoid rash Oral ulcers Photosensitivity Arthritis Malar rash Immunologic criteria Neurologic symptoms (lupus cerebritis, seizures) Elevated ESR Renal disease ANA + Serositis Hematologic abnormalities - anemia, leukopenia, TCP |
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Anti-dsDNA, Anti-Sm Ab's
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highly specific, not sensitive for SLE
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drug induced SLE antibodies
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Antihistone Ab
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Anti-Ro Ab's
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neonatal SLE
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Anti-phospholipid Ab's
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hypercoagulability, thromboembolic disease, recurrent spontaneous abortions
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Rx for SLE
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NSAIDs (initial)
Steroids for acute exacerbations hydroxychloroquine, cyclophosphamide, azithroprine for progressive/refractory cases |
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SLE pathogenesis, epidemiology
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90% female (esp. African American)
Antibody-mediated cellular attack with deposits of antigen-antibody complexes |
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Drugs inducing SLE
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hydralazine
pencillamine procainamide |
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Temporal arteritis pathogenesis
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subacute granulomatous inflammation of large vessels (includes aorta, ext. carotid - temp. br, vertebral a's)
|
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temporal arteritis S/S
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new h/a uni/bilateral with scalp pain
temporal tenderness jaw claudication fever transient/perm monocular blindness +/- wt loss, myalgia/arthralgia |
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bx findings in temporal arteritis
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thrombosis, media necrosis, lymphocyes, plasma cells, giant cells
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HSP path and epi
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immune mediated small vessel vasculitis
children 2-11 y/o |
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HSP S/S
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palpable purpura on buttocks, legs
asym. migartory periarticular swelling abdominal pain preceding URTI (75%) |
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Complications of HSP
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GIB, intussusception, GN - degree of renal involvment determines Px
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Barlow's maneuver
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for DDH
pressure on inner aspect of abd thigh, hip add - causes post. dislocation |
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Ortolan's maneuver
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for DDH
thighs abdocuted from midline with anterior pressure on greater trochanter - +ve = soft click (femoral head reduced into acetabulum) |
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Allis'/Galeazzi's sign
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for DDH
knees at unequal heights when baby's hips and knees flexed (dislocated side lower) |
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Evaluation of DDH
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clinical, U/S esp after 10 weeks old (not xray until >4m old)
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Monteggia's #
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diaphyseal # of prox ulna with subluxation of radial head
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Galeazzi's #
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diaphyseal # of radius with dislocation of distal r/u joint - d/t direct blow to radius
Rx - ORIF radius, cast in supination to reduce r/u jt |
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clavicular #
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most common #'d long bone in kids
can be associated with brachial plexus injuries |
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greenstick #
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incomplete # - cortex of only one side of bone
Rx - reduction with casting, repeat Xray 7-10days |
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nursemaid's elbow
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radial head subluxation secondary to child being pulled or lifted by the the hand
Rx - gentle supination of elb at 90 |
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Torus #
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buckling of cortex of long bone secondary to trauma
- usually distal radius or ulna |
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Salter-Harris # type I
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physis
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Salter-Harris # type II
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metaphysis and physis
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Salter-Harris # type III
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epiphysis and physis
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Salter-Harris # type IV
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epiphysis, metaphysis, physis
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Salter-Harris # type V
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crush injury of physis
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Rx of Salter-harris #'s
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Types I, II - conservative
III - V - Sx |
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Rx of DDH
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Splint with Pavlik harness (maintains hip flexed, abd) if <6m old
6-15m old - spica cast 15-24m old - ORIF |
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DDx of limp in children
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"STARTSS HOTT"
Septic joint Tumor AVN (LCPD) RA/JRA TB SCA SCFE HSP Osteomyelitis Trauma Toxic synovitis |
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osteosarcoma
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2nd most common primary malignancy of bone (MM 1st)
metaphyseal region of distal femur, prox. tibia, prox. humerus - mets to lungs males, 2nd-3rd decades |
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osteosarcoma vs Ewing's
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Osteo
metaphyseal region distal femur, prox tibia/humerus Xray - Codman's triangle, "sunburst" pattern Ewing's diaphyseal-metaphyseal regions of pelvis, femur, tibia multilayered "onion-skinning" |
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Codman's triangle
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Osteosarcoma Xray finding = periosteal new bone formation at diaphyseal end of bone
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lesion of Broca's area
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Broca's aphasia - motor (expressive) - broken speech, normal comprehension
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lesion of Wernike's area
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sensory (fluent/receptive)aphasia - poor comprehension
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lesion to arcuate fasciculus
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conduction aphasia - poor repitition with good comprehension, fluid speech
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Lesion to amygdala bilaterally
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Kluver-Bucy syndrome - hyperorality, hypersexuality, disinhibited behaviours
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lesion to fronal lobe
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frontal release signs - personality changes
deficits in concentration, orientation, judgement |
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right parietal lobe lesion
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spatial neglect syndrome - agnosia of contralateral side of the world
|
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Lesion to mamillary bodies bilaterally
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Wernicke-Korsakoff's encephalopathy - confabulations, anterograde amnesia
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CN XII lesion
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tongue deviates towards lesion side
|
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CN V lesion
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jaw deviates towards
|
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unilateral cerebellum lesion
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patient falls towards side of lesion
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CN X lesion
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uvula deviates AWAY from lesion side
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CN XI lesion
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head turns towards side of lesion
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R optic nerve defect
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right hemianopsia
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optic chiasm lesion
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bitemporal hemianopsia
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R optic tract lesion
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L homonymous hemianopsia
|
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R Meyer's loop lesion
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L upper quadrant anopsia = right temporal lesion
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R dorsal optic radiation lesion
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L lower quadrant anopsia = R parietal lesion
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R visual cortex lesion
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L hemianopsia with macular sparing
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anterior cerebral artery distribution
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medial surface of brain, leg-foot area of motor and sensory cortices
|
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middle cerebral artery distribution
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lateral aspect of brain, Broca's and Wernicke's areas
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Anterior communicating artery defects
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most common circle of Willis aneurysm, +/- visual field defects
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Posterior communicating artery defects
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CN III palsy
common area of aneurysm |
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Lateral striae arteries distribution
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internal capsule, caudate, putamen, globus pallidus = "arteries of stroke"
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stroke of anterior Circle of Willis
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general sensory and motor dysfunction, aphasia
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Stroke of posterior Circle of Willis
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vertigo, ataxia, visual defects, coma
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Poliomyelitis/Werdnig-Hoffman disease spinal cord lesions
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LMN lesions only = flaccid paralysis
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MS spinal cord lesions
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mostly white matter of cervical region - random and asym lesions
|
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ALS
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combined U/LMN deficits
NO sensory deficits |
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Anterior spinal artery lesion
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spares dorsal columns
|
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Tabes dorsalis
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impaired propriocetion
locomotor ataxia d/t tertiary syphilis |
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syringomyelia
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affects ventral white commissure and ant. horns
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Vit B12 neuropathy/Friedreich's ataxia
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affects dorsal columns, lateral corticospinal and spinocerebellar tracts
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Broca's aphasia
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disorder of language production with intact comprehension - pts aware
impaired repitition Associated with arm and face hemiparesis (right), hemisensory loss, apraxia of oral muscles d/t L superior MCA stroke |
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Wernicke's aphasia
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disorder of language comprehension
neologisms, paraphasic errors pts unaware no hemiparesis, dysarthria L inf/post MCA embolic stoke poor Px c/w Broca's |
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Locked in syndrome S/S, causes
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awake and alert, unable to move except eyes and eyelids
central pontine myelinolysis brain stem CVA advanced ALS |
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Persistent vegetative state
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normal sleep-wake cycles
most common - diffuse cortical injury hypoxic-ischemic injury |
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5 A's of dementia
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Aphasia
Amnesia Agnosia Apraxia disturbances in Abstract thought |
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Causes of dementia
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"DEMENTIAS"
neuroDegenerative diseases Endocrine Metabolic Exogenous Neoplasm Trauma Infection Affective disorders Stroke/Structural |
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Peripheral vs central vertigo
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Peripheral - intermittent, severe, constant nystagmus, always horizonal, unidirectional, associated with hearing loss, no brain stem S/S
Central - constant, less severe, +/- nystagmus (absent, uni/bidirectional, +/- vertical)Rare hearing loss, often brain stem S/S (ataxia, dysarthria, CN abN, motor dysfunctions) |
|
Most common causes dysequilibrium
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BPPV (50%)
Ménière's Others - hypothyroid, aminoglycoside/furosemide toxicity, stroke, trauma, labyrinthitis, acoustic neuroma |
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Nylen-Barany Maneuver
|
= Dix-Hallpike maneuver
pt sitting to supine quickly turning head to side - +ve if reproduces vertigo +/or nystagmus = BPPV |
|
BPPV S/S
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transient episodic vertigo <1min
nystagmus triggered by changes in head position (classic - turning in bed/getting up in am) N/V Symptoms decrease with repetitive testing |
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Meniere's disease S/S
(=endolymphatic hydrops) |
intermittent peripheral vertigo d/t distention of endolymphatic compartment of inner ear
N/V ear fullness hearing loss tinnitus episodes resolve hrs-days |
|
Causes of Meniere's
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head trauma
syphilis |
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audiometry findings in Meniere's
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low-frequency pure-tone hearing loss
|
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Treatment of Meniere's
|
low salt diet
acetazolamide actue attacks - antihistamines, antiemetics, benzo's surgical decompression if refractory |
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acute h/a causes
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SAH
hemorrhagic CVA meningitis seizure acutely increased ICP hypertensive encephalopathy post-LP ocular dz (glaucoma, iritis) new migraine |
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subacute h/a causes
|
temporal arteritis
intracranial tumor SDH pseudotumor cerebri trigeminal/glossopharyngeal neuralgia post-herptic neuralgia HTN |
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chronic/episodic h/a causes
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migraine
cluster h/a tension h/a sinusitis dental dz neck pain |
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Migraine h/a S/S
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throbbing h/a >2hrs, <24hrs
N/V photophobia noise sensitivity "Classic" - u/l, visual aura (scintillating scotomas or field cuts) "common" - b/l, periorbital without associated symp |
|
Treatment of migraine h/a
|
ASA/NSAIDS, triptans
prophylaxis - BB, TCA, CCB, valproic acid |
|
Cluster h/a description
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brief, severe, usually u/l periorbital h/a 30min-3hrs
affects same part of head, same time of day (night), same time of year triggers - EtOH, vasodilators |
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Cluster h/a S/S
|
ipsilateral tearing of eye
conjunctival injection Horner's syndrome nasal stuffiness |
|
Treatment of cluster h/a
|
acutely - high flow O2 (100% non-rebreather)
ergots sumatriptan intranasal lidocaine corticosteroids |
|
Prophylaxis of cluster h/a
|
ergots
CCB prednisone lithium valproic acid topiramate |
|
SAH causes
|
ruptured aneurysm (berry)
AVM trauma (most common) |
|
Berry aneurysms associated with?
|
PcKD
coarctation of aorta |
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CN involvment in SAH
|
CN III palsy with pupil involvement associated with Berry aneurysms
|
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Treatment of SAH
|
prevent rebleeding - most likely in 1st 48hrs
prevent vasospasm - nimodipine and IV fluids, maintain elevated BP antiseizure meds - phenytoin NO NSAIDs |
|
Complications of SAH
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rebleeding aneurysm>AVM
extension into brain parenchyma (AVM) vasospasm (in 1/3 of aneurysmal SAH) obstructive hydrocephalus |
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EDH CT findings
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lens-shaped CONVEX hyperdensity
|
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SDH CT findings
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cresent-shaped, CONCAVE hyperdensity
|
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parenchymal hemorrhage causes
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HTN - usually in basal ganglia
tumor amyloid angiopathy (elderly) vascular malformations (AVM, cavernous hemangiomas) |
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Cushing's triad
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alterations in BP, HR, and respiratory patterns
|
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Parkinson's tetrad
|
resting tremor
bradykinesia rigidity postural instability |
|
treatment of parkinson's
|
dopamine agoinsts - brompcriptine, levo/carbadopa
MAO-B inhibitors - selegiline (neuroprotective, decreases levodopa need) COMT inhibitors - entacapone (increase levodopa availability, may decrease motor fluctuations) (amandatine, antiAch - limited efficacy) |
|
astrocytomas
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Adults
S/S h/a, increased ICP +/- u/l paralysis CN V-VII, X slow, protracted course Rx - resection, XRT |
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GBM
|
most common primary
h/a, increased ICP rapid progression, poor Px (<1yr) |
|
meningiomas
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women>men
from dura or arachnoid increased incidence with age |
|
acoustic neuroma
|
ipsilateral hearing loss
tinnitus vertigo signs of cerebellar dysfunction Derived from Schwann cells |
|
Medulloblastoma
|
children
from 4th vent - increased ICP highly malignant - can seed subarachnoid space Rx - Sx + chemo + XRT |
|
ependymoma
|
children
from ependyma of ventricle (4th) or spinal cord hydrocephalus Rx - Sx + XRT |
|
Neurocutaneous syndromes
|
NF 1,2
Tuberous sclerosis |
|
NF 1 mutation
|
NFT-1 gene on 17q
|
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NF 2 mutation
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defective gene chrom. 22
|
|
NF1 diagnostic criteria
|
>=2 of:
1) 6 cafe au lait spots (>5mm kids, 15mm adults) 2) 2 neurofibromas (any type) 3)feckling-axillary/inguinal 4) optic glioma 5) 2 Lisch nodules = pigmented iris hamartomas 6)osseus abnormalities 7) 1st degree relative |
|
NF2 diagnostic criteria
|
bilateral acoustic neuromas
1st degree relative unilateral acoustic neuroma any 2 of: neurobfibroma meningioma glioma schwannoma Other features (not criteria) seizures, skin nodules, cafe-au-lait spots |
|
Tuberous Sclerosis - characterized by:
|
seizures (begin <1y/o)
mental retardation skin and eye lesions |
|
Tuberous sclerosis - presentation
|
infantile spasms
ash-leaf hypopigmented lesions (trunk and extremities) |
|
Skin lesions in tuberous sclerosis
|
sebaceous adenomas (small red nodules over nose and cheeks like acne)
shagreen patch (rough papule in L/S region with orange peel consistency) Ash-leaf hypopigmented lesions (trunk and extremities) |
|
Retinal lesions in tuberous sclerosis
|
mulberry tumors (arise from nerve head)
phakomas (round, flat, grey lesions near disc) |
|
Tests and findings in Tuberous sclerosis
|
calcified tubers in periventricular area (rarely transform into malignant asyrocytomas)
Skin lesions with Wood's lamp ECG for rhabdomyoma (apex of LV in 50% pts) Renal U/S - renal hamartomas, PcKD Pulmonary - angiomyolipomas (cause generalized cystic or fibrous changes) |
|
Thiamine deficiency
|
Wernicke's encephalopathy
Korsakoff's dementia |
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Wernicke's encephalopathy
|
triad = encephalopathy, ophthalmoplegia (LR palsy,nystagmus, conjugate gaze palsy), ataxia (polyneuropathy, CB and ventricular dysfunction)
|
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Korsakoff's dementia
|
Wernicke's (encephalopathy, ophthalmoplegia, ataxia) + amnesia, horizontal nystagmus
|
|
Way to elicit Wernicke's encephalopathy
|
Large dose glucose administration
|
|
Cyanocobalamin deficiency
|
= B12 deficiency
Combined system disease or subacute combined degeneration |
|
Cyanocobalamin deficiency S/S
|
gradual, progressive onset
symm. P/N leg stiffness spasticity paraplegia bowel/bladder dysfunction Dementia |
|
Folate deficiency
|
irritability
memory loss personality changes without CSD of B12 |
|
Seizure causes in infants
|
perinatal injury
infection metabolic congential |
|
Childhood (2-10y/o) causes of seizures
|
idiopathic
infection trauma fever |
|
Adolescent causes of seizures
|
idiopathic
trauma drug withdrawl AVM |
|
Young adult (18-35y/o) causes of seizures
|
trauma
alcoholism brain tumor |
|
Adult (>35y/o) causes of seizures
|
trauma
stroke metabolic disorder alcoholism brain tumor |
|
Lab finding in epileptic seizure
|
elevated prolactin
|
|
Simple partial seizures
|
motor, sensory, autonomic, or psychic features without LOC
+/- post-ictal focal neuro deficit resolves 1-2 days Can evole into generalized DDx from acute CVA with MRI |
|
Complex partial seizures
|
temporal lobe (70-80%)
char by: impaired LOC auditory/visual hallucinations deja vu automatisms post-ictal confusion/disorientation, amnesia Symp can mimic schizophrenia/acute psychosis Can evolve into generalized |
|
Normal EEG in seizure
|
Does NOT r/o epileptic sz disorder
|
|
First line anti-convulsant in children
|
phenobarbital
|
|
1st line treatment of idiopathic generalized seizures
|
Valproic acid
Adjuncts - lamotrigine, topiramate |
|
treatment of secondary tonic-clonic seizures
|
Same as partial seizures
|
|
Absence seizures EEG finding
|
3/sec spike-and-wave discharges (classic)
|
|
Absence seizures treatment
|
ethosuximide - 1st line
Valproic acid, zonisamide |
|
West syndrome
|
Infantile spasms
Abnormal interictal EEG (v. high amplitude slow waves) Arrest of psychomotor devt at age of sz onset |
|
West syndrome S/S
|
begins 3-12m
sz - tonic, b/l, symm in clusters of 5-10 individual spasms - occur when drowsy or on awakening MR in most pts |
|
West syndrome Rx
|
ACTH
prednisone anti-epileptics (clonazepam, valproic acid) |
|
Status epilepticus definition
|
prolonged (>30min) or repetitive sz without a return to baseline
20% mortality |
|
Status epilepticus causes
|
anticonvulsant withdrawl/non-comliance
anoxic brain injury EtOH/sedative withdrawl drug intoxication metabolic - hyponatremia trauma infections |
|
Treatment of Status epilepticus
|
ABC's
IV benzo + phenytoin loading dose If sz continue - intubate + phenobarbital loading dose glucose, thiamine, naloxone |
|
Risk factors for CVA
|
non-modifiable - male, age, genetics, race (African-American, Hispanic, Asian)
Modifiable - HTN, DM, obesity, smoking, hypercholesterolemia, carotid stenosis, heavy EtOH, cocaine, IVDU, AFib |
|
CVA most common etiology
|
athlerosclerosis of extracranial vessels (internal and common carotids, basilar, vertebral)
|
|
Underlying causes of lacunar infarcts
|
athlerosclerosis
HTN DM |
|
cardiac causes of CVA
|
Afib (risk increased 5-6x)
emboli - mural thrombi, diseased/prosthetic valves, paradoxic (venous) in R-to-L shunt (ASD, PFO) |
|
MCA stroke S/S
|
aphasia (dominant hemisphere)
neglect (non-dominant) contralat. hemiparesis, gaze preference, homonymous hemianopsia |
|
ACA stroke S/S
|
leg paresis
amnesia personality changes foot drop gait changes cognitive changes |
|
PCA stroke S/S
|
homonymous hemianopsia
memory deficits dyslexia/alexia |
|
Basilar stroke S/S
|
coma
CN palsies apnea visual symp drop attacks dysphagia |
|
lacunar stroke S/S
|
pure motor or sensory
dysrthria-clumsy hand syndrome ataxic hemiparesis |
|
tPA contraindications
|
SBP >185 or DBP >110 despite aggressive antihypertensive Rx
prior ICH CVA/head trauma in past 3m recent MI current anticoagulant Rx with INR >1.7 heparin in last 48hrs with increased PTT platlets <100000 major Sx in last 14d GI/GU bleed in past 21d sz present at CVA onset glucose <50/>400mg/dL age <18 |
|
5 A's of Guillain-Barre
|
Acute inflammatory demyelinating polyradiculopathy
Ascending paralysis Autonomic neuropathies Arrhythmias Albuminocytologic dissociation |
|
Findings in Guillain-Barre
|
EMG/nerve conduction studies - diffuse demyelination
CSF - protein >55mg/dL with little/no pleocytosis |
|
Myasthenia gravis antibodies
|
postsynaptic ACh receptor Ab (85-90%)
antistriational Ab (85% of pts with thymoma) |
|
Labert-Eaton Syndrome antibodies
|
autoantibodies to presynaptic Ca channels
|
|
Myasthenia Gravis assoicated disorders
|
thymoma
thyrotoxicosis autoimmune - SLE, RA |
|
Myasthenia Gravis S/S
|
fatiguable ptosis/diplopia
dysphagia proximal muscle weakness symp worsen throughout day |
|
"Myasthenic crisis"
|
respiratory compromise and aspiration (rare)
|
|
Drug induced myasthenic syndrome cause
|
aminoglycosides
|
|
Myasthenia Gravis findings
|
edrophonium - dramatic improvement (diagnostic)
Abnormal single fiber EMG +/or decremental response to repetitive nerve stim ACh Ab (85-90%) Antistriational Ab (85% of pts with thymoma) |
|
Treatment of MG
|
anticholinesterases - neostigmine, pyridostigmine
immunosuppressants - prednisone Resection of thymoma - can be curative |
|
ALS pathogenesis
|
loss of motor neurons in spinal cord, brain stem, and motor cortex
|
|
ALS S/S
|
asymmetric, slowly progressive weakness of arms, legs, CNs
UMN and LMN signs |
|
Diagnostic findings in ALSq
|
Combination of U and LMN signs in >= 3 extremities
|
|
Findings in ALS
|
EMG/NCS - widespread denervation and fibrillation potentials
|
|
treatment in ALS
|
supportive
aggressive pulmonary toilet Riluzole - reduces presynaptic glutamate release, may slow progression |
|
Risk factors for carpal tunnel syndrome
|
repetitive use injury
pregnancy DM hypothyroid acromegaly RA obesity |
|
MS possible pathogenesis
|
T cell mediated autoimmune progression
|
|
MS classic triad
|
scanning speech
intranuclear ophthalmoplegia nystagmus |
|
Most common presenting complaints in MS
|
limb weakness
optic neuritis P/N diplopia urinary retention vertigo |
|
Exacerbating factors in MS
|
infection
heat trauma vigorous activity (decreasing - pregnancy) |
|
MRI findings in MS
|
multiple, asymmetric, often periventricular white matter lesions
Corpus callosum lesions ~pathognomonic Active lesions enhance with gadolinium |
|
CSF findings in MS
|
mononuclear pleocytosis (>5cells/microL) 25%
elevated IgG - 80% oligoclonal bands (non-specific) albuminocytologic dissociation |
|
Treatment for MS
|
Steroids - acute exacerbations
Immunomodulators - ABC Avonex/Rebif (interferon-β-1a) Betaseron (interferon-β-1b) Copaxone (copolymer-1) Symtomatic Rx for spasticity, pain, fatigue, depression |
|
Closed angle glaucoma epidemiology
|
elderly
Asians |
|
Causes of closed angle glaucoma
|
acute closure of narrow anterior chamber angle ==>
pupillary dilatation - prolonged time in dark, stress, meds ant. uveitis dislocation of lens |
|
Closed angle glaucoma S/S
|
extreme pain and blurred vision, ~always u/l
eye hard and red pupil dilated, non-reactive to light N/V increased IOP |
|
Treatment of Closed angle glaucoma
|
lower intraocular pressure - acetazolamide
pilocarpine once pressure drops laser iridotomy - curative |
|
open angle glaucoma risk factors
|
>40 y/o
FHx African-American DM myopia |
|
Open angle glaucoma pathogenesis
|
intraocular pressure increase d/t diseased trabecular meshwork that obstructs proper drainage of eye ==> gradual pressure increase causing progressive visual loss
|
|
Open angle glaucoma S/S
|
frequent lens changes in pts >35y/o
mild h/a visual disturbances impaired adaption to darkness visual loss begins peripherally |
|
Fundoscopic findings in open angle glaucoma
|
cupping of optic disc
|
|
Treatment of open angle glaucoma
|
preventative - >40y/o see ophthalmologist q3-5yrs (annual if increased RFs)
topical α-blockers - timolol, betaxolol (decrease aqu. humor producation) pilocarpine (increases aqu. outflow) carbonic anhydrase inhibitors if eye drops insufficient control of IOP laser trabeculoplasty |
|
Macular degeneration risk factors
|
Caucasian
female smokers FHx |
|
Macular degeneration types
|
atrophic - gradual visual loss
exudative - more rapid and severe visual loss |
|
macular degeneration S/S
|
painless loss of central vision
|
|
macular degeneration fundoscopy findings
|
pigmentary or hemorrhagic disturbances of macular region
|
|
treatment of macular degeneration
|
limited
laser photocoagulation may delay loss of central vision in exudative type |
|
CRAO S/S
|
sudden, painlesss, u/l blindness
pupil accomodates sluggish pupil reaction to direct light |
|
CRAO fundoscopy findings
|
cherry-red spot on fovea
arteries +/- bloodless appearance +/- retinal swelling |
|
CRVO S/S
|
rapid painless vision loss
elderly pts |
|
fundoscopy findings of CRVO
|
retinal hemorrhages
cotton-wool spots edema of fundus |
|
sequelae of CRVO
|
macular degeneration
glaucoma |
|
Treatment of CRAO
|
thrombolysis of ophthalmic artery within 8hrs of symp onset
IV acetazolamide -decrease IOP - increase drainage of aqu. humor |
|
sequelae of CRAO
|
untreated - retinal infarction, permanent blindness
|
|
Treatment of CRVO
|
laser photocoagulation - variable results
|
|
Estrogen functions (8)
|
follicle growth
endometrial proliferation myometrial excitability hepatic synthesis of transport proteins feedback inhibition of FSH LH surge smooth muscle relaxation |
|
Progesterone functions (5)
|
endometrial gland secretions
spiral artery development decreased myometrial excitability increased body temperature inhibition of LH, FSH |
|
hCG functions (2)
|
maintians corpus luteum for T1 by acting like LH
detect pregnancy (in urine at 8 days) |
|
physiologic changes in pregnancy - CVS (4)
|
increased CO (30-50%), HR (10-15bpm), SV
possible S3, syst. murmurs (Normal) (new diast. murmur never normal!) decreased SVR decreased BP T1, normalizes by 40 weeks cardiomeagly on CXR d/t heart displacement upwards |
|
physiologic changes in pregnancy - cervix (2)
|
softening and cyanosis ~4wks
bloody show = thick mucus clot |
|
physiologic changes in pregnancy - endocrine (3)
|
high estrogen => ↑TBG, bound T3, T4, unchanged active unbound hormone
HPL - acts as insulin antagonist to maintain fetal glucose => prolonged post-prandial hyperglycemia, fasting hyperinsulinemia, triglyceridemia, exaggerated starvation ketone response ↑total and free cortisol |
|
physiologic changes in pregnancy - GI (4)
|
N/V (<=70%) resolves by 14-16wks
↑acid reflux d/t ↓LES tone constipation d/t ↓bowel motility,↑H2O absorption ↑biliary cholesterol |
|
physiologic changes in pregnancy - hematologic
|
↑plasma V (50%), RBC mass (30%)=> ↓Hb, hct = 'physiologic anemia'
WBC count ↑s throughout X=10 pregnancy = hypercoagulable state |
|
physiologic changes in pregnancy - pulmonary
|
↑tidal V (40%)
↓TLC, RV,ERV RR same ↑minute vent. => ↑Pa/PAO2, ↓Pa/PACO2 = 'dyspnea of pregnancy' |
|
physiologic changes in pregnancy - Renal
|
kidneys dilate
↑GFR (50%) ↑RPF (30%) ↑estrogen/progesterone => ↑RAAS = ↑aldosterone |
|
physiologic changes in pregnancy - skin
|
↑estrogen - stigmata like liver disease
↑αMSH, steroids => hyperpigmentation - midline (linea nigra), face (chloasma), perineum |
|
physiologic changes in pregnancy - vagina
|
thick acidic secretions
Chadwick's sign = violet colouration from ↑blood flow |
|
Nagle's rule = EDD
|
add 9m + 7d to 1st day of LMP
|
|
Ways to determine GA
|
uterine size
quickening (17-18wks) fetal heart tones (10wks) U/S fetal crown-rump length (5-12wks) biparietal diameter (20-30wks) |
|
Labs at initial visit for pregnancy
|
CBC, UA + culture, Pap, blood type, Rh + Ab screen, rubella Ab titer, HBsAg, syphilis screen, cervical gonoccocal & chlamydia
PPD glucose teting HIV |
|
Labs at 15-19wks GA
|
MSAFP or triple screen (=MSAFP, estiol, β-hCG)
amnio if >35y/o |
|
Labs at 26-28wks GA
|
glucose loading test
give Rhogam at 28 wks if mom Rh-ve |
|
Labs at 32-36wks GA
|
cerval chlamydia + gonorrhea in high risk
GBS screen |
|
causes of ↑MSAFP (MoM >2.5)
|
1. open NTD - anencephaly, SB
2. abdominal wall defects - gastroschisis, omphalocele 3. multiple gestation 4. incorrect dates 5. fetal death 6. placental abnormalities - abruption |
|
causes of ↓MSAFP (MoM<0.5)
|
need amnio and karyotyping to r/o chromosomal abnormalities
- trisomy 18, 21 |
|
pattern of triple screen with Down's
|
↓AFP, estriol
↑hCG |
|
pattern of triple screen with trisomy 18
|
↓AFP, estriol, hCG
|
|
Compare complications of amnio with CVS
|
amnio (15-17wks)
fetal maternal hemorrhage 1-2% fetal loss 0.5% CVS (10-12wks) fetal loss 1% inability to Dx NTD limb defects if <9wks GA |
|
Indications for percutaneous umbilical blood sampling
|
Ax/Rx Rh isoimmunization/erythroblastosis fetalis
karyotyping fetal infection (CMV, toxo, rubella) genetic dz fetal acid-base status |
|
Normal labour and deliver stages
|
first
latent - onset to 3-4cm active - 4cm to 10cm (1.2cm/h primi, 1.5cm/h multip)increased with CPD 2nd - complete dilatation to delivery 34d - delivery of infant to placenta |
|
Factors affecting active phase of labour
|
3P's
power passenger pelvis |
|
Normal NST
|
FHR monitored by doppler correlated with reported mvts by mom
- acceleration ≥15bpm above baseline for ≥15sec twice in 20min |
|
positive contraction stress test
|
repetitive late decels during ≥3 contractions in 10min
|
|
Biophysical profile
|
"Test the Baby MAN" - give score of 0 or 2 for each
Tone Breathing Movement Amniotic fluid volume NST "+ve test" = score 0-2 |
|
Early decelerations
|
begin and end with contraction
caused by cephalic compression (no fetal distress) |
|
Variable decelerations
|
at any time during contraction
Caused by: umbilical cord compression (change maternal position) |
|
Late decelerations
|
begin at peak of contraction and end after contraction has finished
- uteroplacental insufficiency - fetal hypoxemia - potentially d/t abruption or hypotension - if repetitive and severe deliver ASAP |
|
Hyperemesis Gravidarum
|
intractable N/V after 14-16wks
poor wt gain/wt loss more common in G1P0, molar pregnancies labs - ketonemia, ketonuria, hyponatremia, hypokalemic-hypochloremic m.a. |
|
Diagnosis of GDM
|
fasting serum glucose >126mg/dL
random >200mg/dL abnormal GTT 1hr (50g) >140gm/dL 3hr (75g)with any 2 of - fasting ≥95, 1h ≥180 2h ≥155 3h ≥140 |
|
Pregestational DM is associated with?
|
↑risk congenital malformations and maternal/fetal morbidity during labour and delivery
|
|
Pregnancy induced HTN definition
|
HTN with proteinuria <300mg/dL
|
|
maternal complications of pregestational DM (8)
|
DKA or HHNK
pre/eclampsia CPD Preterm labour infection polyhydramnios PPH maternal mortality |
|
fetal complications of pregestational DM (11)
|
macrosomia
cardiac and renal defects hypoglycemia from hyperinsulinemia hypocalcemia RDS polycythemia hyperbilirubinemia NTD (sacral agenesis) IUGR birth injury (sh. dystocia) perinatal mortality |
|
Preeclampsia
|
new-onset HTN
proteinuria non-dependent edema >20wks |
|
Risk factors for pre/eclampsia
|
nulliparity
black race extremes of age multiple gestation molar pregnancy renal dz (SLE, DM1) FHx chronic HTN |
|
Explanation for pre/eclampsia
|
vasospasm causing hemorrhage and organ necrosis
|
|
Mild preeclampsia S/S
|
BP>140/90 2x 6hrs apart
rapid wt gain nondependent edema proteinuria 1-2+, >300mg/24h |
|
Severe preeclampsia S/S
|
BP>160/110 2x 6hrs apart
proteinuria >5g/24h 3-4+ cerebral changes - h/a, somnolence visual changes - blurred, scotoma hyperactive reflexes, clonus oliguria (<500ml/24h) HELLP oligohydramnios, IUGR pulmonary edema, cyanosis RUQ/epigastric pain |
|
Severe pre-eclampsia Rx
|
deliver (C/S or induce) ASAP
BP <160/100 - diast 90-100 - IV hydralazine, +/or labetalol prevent seizures - MgSO4 |
|
Mg Toxicity S/S, Rx
|
Loss of DTRs
respiratory paralysis coma Rx - IV Ca gluconate |
|
Complications of preeclampsia
|
prematurity
fetal distress stillbirth placental abruption sz DIC ICH serous retinal detachment fetal/maternal death |
|
Complications of eclampsia
|
ICH
aspiration pneumonia hypoxic encephalopathy thromboembolic events maternal/fetal death |
|
Teratogenic effects of - EtOH
|
microcephaly
midfacial hypoplasia MR IUGR cardiac defects |
|
Teratogenic effects of - cocaine
|
bowel atresias
IUGR microcephaly |
|
Teratogenic effects of - streptomycin
|
CN VIII damage
ototoxicity |
|
Teratogenic effects of - tetracycline
|
teeth discolouration
inhibition of bone growth small limbs syndactyly |
|
Teratogenic effects of - sulfonamides
|
kernicterus
|
|
Teratogenic effects of - quinolones
|
cartilage damage
|
|
Teratogenic effects of - isotretinoin
|
heart and great vessel defects
craniofacial dysmorphisms deafness |
|
Teratogenic effects of - coumadin
|
stippling of epiphyses
IUGR nasal hypoplasia MR |
|
Teratogenic effects of - ACEI
|
oligohydramnios
fetal renal damage |
|
Teratogenic effects of - lithium
|
Ebstein's abnormality (abnormal attachments of tricuspid valve leaflets to annulus of TV)
other cardiac dz |
|
Teratogenic effects of - carbamazepine
|
fingernail hypoplasia
IUGR microcephaly NTD |
|
Teratogenic effects of - phenytoin
|
nail hypoplasia
IUGR MR craniofascial dysmorphism microcephaly |
|
Teratogenic effects of - valproic acid
|
NTD
cariofacial and skeletal defects |
|
Symmetric IUGR
|
symm - 20%
all U/S parameters ↓ occurs early caused by fetal problem - cytogenetic - infection - anomalies |
|
Asymmetric IUGR
|
80%
↓abdominal circumference, all other U/S parameters N Late Placenta mediated - HTN - poor nutrition - maternal smoking |
|
Oligohydramnios
|
AFI <5 on U/S
40x ↑perinatal mortality without ROM Causes - fetal urinary tract abnormalities (renal agenesis, PcKD, GU obstruction) - chronic uteroplacental insufficiency (SGA fetuses) - ROM |
|
Complications of oligohydramnios
|
msk abnormalities
- club foot - facial distortion pulmonary hypoplasia fetal hypoxia d/t cord compression IUGR |
|
Polyhydramnios
|
AFI >20 on U/S
usually asymp vs fundal ht >expected Causes maternal DM multiple gestation isoimmunization pulmonary abnormalities (cystic lung malformation) fetal anomalies (duodenal atresia, TEF, anencephaly) twin-twin transfusion synd |
|
Complications of polyhydramnios
|
preterm labour
fetal malpresentation cord prolapse |
|
When to give Rhogam
|
mom is Rh -ve at 28wks
father is Rh +ve father's Rh status unknown postpartum if baby Rh+ve |
|
Complications of Rhesus isoimmunization
|
hydrops fetalis
fetal hypoxia and acidosis kernicterus prematurity fetal death |
|
hydrops fetalis
|
when Hb <7g/dL
↓protein and oncotic pressure edema jaundice high output cardiac failure |
|
hydatiform mole - complete
|
46XX
paternally derived (sperm fertilization of empty ovum) |
|
hydatiform mole - partial
|
N ovum fertalized by 2 sperm or by haploid sperm that duplicated own chromosome
69XXY contains fetal tissue |
|
Risk factors for GTD
|
extremes of age
diet deficiency - folate, β-carotene blood group - type A♀ by type O♂ |
|
Molar pregnancy S/S
|
uterine bleeding (most common)
hyperemesis gravidarum pre/eclampsia <24wks (preeclampis in T1 is pathognomonic for hydatiform mole) uterine size >dates hyperthyroidims no FHR enlarged ovaries with b/l theca-lutein cysts expulsion of grape-like molar clusters into vagina |
|
findings of complete hydatiform mole
|
"snow-storm appearance" on U/S
↑↑↑ βhCG (>100000mIU/ml) no gestational sac/fetus CXR - +/- lung mets |
|
T3 bleeding - most common causes
|
placental abruption
placenta previa Other causes: bloody show ruptured vasa previa early labour ruptured uterus marginal placental separation genial tract lesions/trauma placenta accreta |
|
Rx of hydatiform mole
|
D&C - "cluster of grapes" tissue
close f/u βhCG prevent pregnancy x 1yr malignant - MTX or dactinomycin residual uterine dz - hysterectomy chemo/XRT - mets |
|
Placental abruption
|
premature separation of normally implanted placenta
1/100 |
|
Risk factors for placental abruption
|
HRN
trauma tobacco/cocaine PHx rapid decompression of overdistended uterus |
|
Symptoms of placental abruption
|
Painful
dark vaginal bleeding that does not stop spontaneously uternine hypertonicity fetal distress |
|
Dx of placental abruption
|
clinical
U/S 50% sensitivity - look for retroplacental clot use to r/o previa |
|
Complications of abruption
|
hemorrhagic shock
DIC (10%) recurrence - 5-16% fetal hypoxia |
|
Placenta previa
|
abnormal placental implantation
total - covers os marginal - extends to margin of os low-lying - close to os 1/200 |
|
Risk factors for placenta previa
|
prior C/S
grand multip advanced maternal age multiple gestation PHx |
|
Placenta previa S/S
|
painless
bright red bleeding, often stops 1-2hrs +/- contractions first bleed 29-30wks no fetal distress |
|
Dx placental previa
|
U/S - sensitivity >95%
|
|
Rx placenta previa
|
No vaginal exams!
tocolytics Serial U/S Ax FLM C/S |
|
Complications of placenta previa
|
increased risk of accreta
vasa previa preterm delivery PROM IUGR congenital anomalies recurrence 4-8% |
|
Primary biliary cirrhosis S/S
|
pruritis
jaundice heptosplenomegaly increased ALP, bilirubin, cholesterol +ve antimitochondrial Ab xanthalasma |
|
Chalazion
|
inflammatory lesion of meibonian tear glands
seen in rosacea, blepharitis |
|
hordeolum
|
purulent inflammation of eyelid
usually d/t Staph |
|
Serious side-effects of PTU and Rx
|
agranulocytosis
Stop immediately if develops sore throat or fever |
|
neonatal gonoccocal conjunctivitis
|
copious purulent eye discharge
swollen eyelids chemosis 2-3d after birth d/t exposure to genital secretions |
|
neonatal chlamydia conjunctivitis
|
scant mucoid discharge (not as purulent as gonococcal)
mild hyperemia 5-14d after birth d/t genital tract exposure |
|
risk factors for colonic polyp to become malignant
|
villous adenoma
sessile adenoma >2.5cm |
|
Acute bacterial prostatitis organisms
|
young pts - chlamydia, gonorrhea
elderly - E. coli (most common), G-ve rods Prostatic manipulations can cause septicemia (contraindicated) Need urine sample |
|
Empiric anaerobic coverage in neutropenic pts is indicated when...?
|
Any evidence of:
necrotizing mucositis peridontal abscess perirectal abscess/cellulitis typhilitis (=necrotizing neutropenic colitis) intra-abd/pelvic abscess anaerobic bacteremia |
|
Most common organisms in febrile neutropenia
|
gram negatives esp. P. aeroginosa
|
|
Antibiotics of choice in febrile neutropenia (on spec)
|
cefipime
ceftazidime |
|
Malignant otitis externa S/S, cause
|
severe ear pain
ear discharge radiates to TMJ worse with chewing worsens despite topical Abx granulation tissue in EAM Most common - P. aeroginosa rare - staph, aspergillus |
|
Preferred Rx for Absence sz
|
1. ethosuximide
2. valporic acid 3. lamotrigmine, clonazepam |
|
Drug of choice for partial seizures
|
phenytoin
|
|
Splenic sequestration
|
vaso-occlusion and pooling of RBCs in spleen
marked decrease Hb, increased retics P/E - rapidly enlarging spleen +/- hypotensive shock 10-15% mortality 50% recurrence Rx - splenectomy |
|
acute chest syndrome in SCA
|
chest pain
fever new infiltrate on CXR |
|
aplastic crisis in SCA
|
transient arrest of erythropoesis usually d/t infection
parvovirus B19 most common cause |
|
recommendations for pneumococcal vaccine
|
1. >65y/o
2. chronic dz - CVS, renal, lung, liver 3. immunosuppressed/DM 4. chronic EtOH, institutionalized |
|
Criteria for home O2
|
1. All COPD pts with PaO2 <55mmHg or SaO2 <88% on r/a
2. cor pulmonale, PHTN, Hct>55% when PaO2 <60mmHg 3. exercise or nocturnal hypoxia |
|
hereditary spherocytosis
|
AD
chronic extravascular hemolysis (spleen only) spectrin deficiency (RBC membrane intrinsic defect) indirect hyperbilirubinemia increased osmotic fragility |
|
defect in decay accelerating factor
|
paroxysmal nocturnal hemoglobinuria
|
|
Acute GVHD
|
50% of transplants from matched siblings
S/S Skin maculopapular rash of palms, soles face +/- generalizes GI - bloody diarrhea liver - abnormal LFTs, jaundice |
|
Acute GVHD pathophysiology
|
recognition of host major and minor HLA antigens by donor T cells leading to cell-mediated response
|
|
immunoblastic lymphoma
|
EBV induced lymphocytosis in BMT
|
|
cholesteatoma definition, symptoms
|
epithelial cyst with desquamated keratin (most commonly infected with P. aeroginosa)
located medial to normal TM congenital or aquired from OM, eustacian tube defects present with recurrent infections or progressive conductive hearing loss |
|
cholesteatoma presentation
|
Most common - drainage and granulation tissue unresponsive to abx
O/E marginal TM perforation pus, mucous, granulation tissue filled ear canal destroys bone - can extend into cranium Rx - Sx |
|
Serous otitis media
|
d/t prolonged blockage of eustacian tube
conductive hearing loss dull TM, hypomobile air bubbles seen in middle ear |
|
Chronic otitis media
|
purulent aural discharge
TM thickened with calcific patches and perforation no exudation of debris or granulation tissue Complication - tympanic sclerosis (rare hearing loss) |
|
medical treatment of gallstones
|
ursodeoxycholic acid
low fat diet |
|
progressive and bilateral loss of central vision with preservation of navigational (peripheral) vision
|
macular degeneration
|
|
Koplik spots
|
pathognomonic of rubeola (measles)
=bluish white lesions (can appear like table salt crystals) on erythematous buccal mucosa opposite 1st and 2nd upper molars (sometimes conjunctivae and vagina also) |
|
fever, non-productive cough, coryza, non-purulent conjunctivitis, Koplik spots
|
prodrome of measles (rubeola)
|
|
Kawasaki's disease S/S
|
<10y/o
fever >5days mucous membrane changes (injected pharynx, strawberry tongue, fissure lips) extremity changes (edema, erythema, desquamation) >=1cervical LN >1.5cm polymorphous rash |
|
scarlet fever S/S
|
sand-paper like erythematous rash +/- desquamation
strawberry tongue fever pharyngitis |
|
exanthema subetum, 6th disease, rubeola - what virus?
Important complication |
HHV6 - high fever in infants for 3-4days
Most common cause infantile seizures |
|
rubella S/S
|
mild fever
malaise post. cervical lymphadenopathy patchy erythema of throat and palate 3 day rash - fine, pink, maculopapular, rapidly migrates from face to trunk |
|
Iron toxicity S/S, Cx, Rx
|
corrosive to GI tract
hemorrhagic gastroenteritis acidosis hypotension Cx - intestinal perforation Rx - defuroximine IV |
|
EDTA
|
lead toxicity
|
|
CHD risk factor equivalents
|
DM
symptomatic CAD AAA peripheral arterial disease multiple risk factors present that confer 10yrs risk of CHD >20% |
|
LDL in CHD or equivalent
|
goal LDL <100
lifestyle change at LDL = 100 statins if LDL>130 |
|
LDL with 2/more risk factor
|
goal LDL <130
lifestyle change at LDL = 130 statins if LDL>160 |
|
LDL with 0-1 risk factor
|
goal LDL <160
lifestyle changes at/>160 statins at LDL >190 |
|
SLE features
|
systemic - fever, fatigue, wt loss
mucocutaneous symp - discoid rash, malar rash, alopecia, oral/nasopharyngeal ulcers, photosensitivity serositis - pericarditis, pleuritis renal dz mesangial focal proliferative diffuse proliferative - "wire-loop" pattern from immune-complex deposition and GBM thickening (progressive irreversible) membranous Neurologic - psychosis, depression, seizures, neuropathy Non-erosive arthritis Hematologic hemolytic anemia, leuko/lymphopenia, TCP |
|
Acute renal crisis
|
Cx of systemic sclerosis
malignant HTN - hypertensive encephalopathy, retinopathy, seizures, LV failure |
|
SLE - most common cause of death
|
chronic renal failure
|
|
effect modification
|
effect of the main exposure on outcome is modified by effect of another variable
e.g. risk of estrogens in dvt of thromboembolic dz is modified by smoking |
|
Indications for C/S
|
Maternal
prior classical active genital herpes cervical ca Maternal/Fetal CPD (most common cause) placenta previa/abruption failed operative vaginal delivery Fetal Malposition distress cord compression erythroblastosis fetalis |
|
Post-Partum Hemorrhage causes
|
uterine atony (most common -90%)
genital tract trauma retained placental tissue |
|
Risk factors for uterine atony
|
uterine overdistension - multiple gestation, macrosomia, polyhydramnios
exhausted myometrium (rapid/prolonged labour, oxytocin stim) Conditions interfering with contractions (anaesthesia, myomas, MgSO4) |
|
Dx of uterine atony
|
palpation of soft, enlarged, "boggy" uterus
|
|
Rx of uterine atony
|
bimanual uterine massage
Oxytocin infusion methylergonovine (if no HTN) prostin (PGF2α) if no asthma |
|
Risk factors for genital tract trauma
|
precipitous labour
operative vaginal delivery large baby inadequate episiotomy repair |
|
Risk factors for retained placental tissue
|
placenta accreta/increta/percreta
placental previa uterine leiomyomas preterm delivery previous C/S, D&C |
|
Dx of retained placental tissue
|
manual and visual inspection of placenta and uterine cavity for missing cotyledons
+/- U/S of uterus |
|
Rx of retained placental tissue
|
manual removal and curettage with suctioning
|
|
Post-partum infection
|
"7W's"
Womb (most common) endometritis Wind atelectasis, pneumonia Walk DVT, PE Water UTI Wound episiotomy, incision Weaning mastitis, breast engorgement/abscess Wonder drugs drug fever Also: pelvic abscess septic pelvic thrombophlebitis (consider these if no improvement with 3drugs in 48hrs) |
|
Definition of and risk factors for post-partum infection
|
≥38°C for ≥2d of 1st 10 post-partum days (not including 1st 24h)
RF C/S especially emergent PROM prolonged labour multiple exams intrauterine manipulations |
|
Management of post-partum infections
|
pelic exam to r/o hematoma, lochial block
U/A & culture blood cultures admit, broad spect Abx - clinda + gent |
|
Sheehan's syndrome
|
pituitary ischemia and necrosis → ant pituitary insufficiency secondary to massive obstetric hemorrhage and shock
primary cause of ant pituitary insufficiency in adult ♀ |
|
Sheehan's syndrome S/S
|
failure to lactate - most common (d/t ↓prolactin)
weakness lethargy cold insensitivity genital atrophy menstrual disorders |
|
Lactation physiology
|
↑estrogen/progesteron during pregnancy → breast hypertrophy and inhibit prolactin
↓↓hormones with delivery releases prolactin suckling releases prolactin and oxytocin → myoepithelial cell contraction and milk ejection (=let down reflex) |
|
Colostrum
|
protein, fat, secretory IgA → passive immunity and protects against enteric bacteria
|
|
Breast milk
|
within 1 week
+++ leukocytes → active immunity protein, fat, lactose, water |
|
Benefits of breast feeding
|
active and passive immunity to baby
decreased incidence allergies mother-child bonding maternal wt loss |
|
Contraindications to breast feeding
|
HIV
active hepatitis medications - tetracycline, chloramphenicol, warfarin |
|
Mastitis
|
cellulitis of periglandular tissue caused by nipple trauma + introduction of S/ aureus from infants nostrils
~2-4wks post-partum u/l >> b/l focal breast tenderness erythema, edema, warmth +/- purulent nipple d/c +ve breast milk culture ↑WBC fever Rx - continue BF, po abx (penicillin, dicloxacillin, erythromycin) I&D for abscess |
|
teratogenic effects of phenytoin
|
digital hypoplasia
facial abnormalities |
|
sulfonamides should be avoided in the last few weeks of pregnancy because...?
|
They competitively inhibit binding of bilirubin to albumin increasing the risk of neonatal hyperbiliruminemia
|
|
Nitrofurantoin should be avoided in late pregnancy because...?
|
risk of hemolysis d/t deficiency of erythrocyte phosphate dehydrogenase in newborn.
|
|
menorrhagia
|
>80ml blood loss/cycle or prolonged bleeding (>8d)
Caused by leiomyomas adenomyosis endometrial hyperplasia/polyps 1° bleeding disorders pregnancy Cx |
|
metrorrhagia
|
bleeding between periods
caused by endometrial polyps endometrial/cervical ca pregnancy Cx exogenous estrogen |
|
menometrorrhagia
|
heavy bleeding during and b/t periods
caused by endometrial polyps endometrial/cervical ca pregnancy Cx exogenous estrogen |
|
polymenorrhea
|
frequent menstruation (<21d cycle)
Caused by: anovulation |
|
oligomenorrhea
|
infrequent menstruation (>35d cycle)
Caused by: pregnancy (most common) HPGA disruption systemic dz |
|
hypomenorrhea
|
unusually low menstrual volume and duration, regular frequency
Caused by: hypogonadotropic hypogonadism (common in athletes/anorexics) OCP's Asherman's syndrome (=uterin scarring d/t Sx or infection) outlet obstruction |
|
Dysfunctional uterine bleeding
|
dx of exclusion = abnormal menstrual bleeding when no pathologic cause found
Cause - anovulation (90%) |
|
post-menopausal bleeding
|
uterine bleeding >1yr after menopause
Cause: vaginal atrophy exogenous hormones cancer |
|
w/u for apparent ovulatory disorder
|
transvaginal U/S
sonohysterogram D&C (gold standard) |
|
w/u for apparent anovulatory disorder
|
βhCG, CBC, coags
endocrine - FSH, LH, TSH, prolactin endometrial bx in all women with post-menopausal or chronic anovulatory bleeding |
|
Rx for anovulatory DUB
|
OCPs or cyclic progestin therapy (=medroxyprogesterone 10mg/d x 10d/m)
If profuse - high dose IV estrogen - D&C - endometrial ablation or hysterectomy (last resort) |
|
Rx of ovulatory DUB
|
NSAIDs +/- OCP
|
|
primary amenorrhea
|
absence of menses and lack of secondary sexual characteristics by age 14
or absence of menses by age 16 with/without secondary sexual characteristics |
|
Secondary amenorrhea
|
absence of menses for 3 cycles or for 6 months with prior normal menses
|
|
Causes of primary amenorrhea
|
anatomic
Mullerian anomalies vaginal agenesis imperforate hymen testicular feminization Ovarine/uterine dysfunction Ovarian failure gonadal dysgenesis (turner's) steroidogenic enzyme defects constitutional devt delay Central Regulatory disorders hypothalamic dysfunction (Kallman's syndrome, anorexia, excess exercise, wt loss, stress, tumor, infection) 1° pituitary dysfunction (rare) |
|
Causes of secondary amenorrhea
|
Anatomic
Asherman's syndrome cervical stenosis (scarring of os) Ovarian/uterine dysfunction ovarian failure pregnancy PCOS Central regulatory disorders hypothalamic dysfunction (anorexia, exercise, wt loss, stress) pituitary dysfunction (Sheehan's, panhypopituitism) hyperprolactinemia |
|
Evaluation of secondary amenorrhea
|
βhCG
serum prolactin TSH as indicated - progestin challenge (if serum prolactin normal) - serum FSH, estradiol - CT/MRI |
|
Elevated prolactin effects
|
inhibits FSH, LH release
|
|
positive progestin challenge test
|
= withdrawl bleeding after 5d of progesterone
means estrogen is present, outflow tract patent Therefore anovulatory problem |
|
Causes of anovulation
|
hypothalamic dysfunction
PCOS cushing's syndrome ovarian/adrenal tumor |
|
estrogen-progesteron challenge
|
+ve = bleeding
suggests functional uterus without adequate estrogen stimulation Causes - problem with follicular or HPA -ve = asherman's syndrome |
|
Fibrocystic change
|
cystic change, nodularity, stomal proliferation, epithelial hyperplasia
Cause exaggerated stromal response to hormones and growth factors Seen in ≤50% of postmenopausal women |
|
Fibrocystic change S/S
|
cyclic (often premenstrual)
b/l breast pain tenderness, swelling |
|
Dx and Rx of fibrocystic change
|
FNA
↓caffeine, nicotine Vit. E supplements hormonal therapy - danazol, progestins, tamoxifen diuretics for premenstrual mastalgia |
|
increased breast cancer risk with fibrocystic change if...?
|
cellular atypia on FNA
|
|
Fibroadenoma
|
benign, slow growing tumor with epithelial and stromal components
most common lesion in <30y/o |
|
Dx and Rx of fibroadenoma
|
round, firm, discrete, nontender, mobile, solitary mass
Rx - Sx excision recurrence common |
|
phyllodes tumor
|
rapidly growing, often large type of fibroadenoma
rarely malignant = cystosarcoma phyllodes |
|
Risk factors for breast ca
|
female
older FHx (1°) PHx fibrocystic change with cellular atypia nulliparity early menarche late menopause 1st full term pregnancy >35y/o |
|
Breast cancer S/S
|
hard, irregular, immobile, painless breast lump
+/- nipple discharge skin changes, axillary adenopathy suggest advanced disease |
|
breast cancer common site and metastases
|
upper outer quadrant
LN, bones, brain, lung, liver |
|
Evaluation of breast cancer
|
palpable mass
mammogram with microcalcifications, hyperdense regions U/S FNA if cystic - if cyst doesn't resolve, bloody aspirate or recurs → excise Bx - direct needle core, stereotactic, open surgical ER/PR receptors/herzneu amplification |
|
Inflammatory breast cancer
|
highly aggressive, rapid growth
invades lymphatics causes skin inflammation |
|
Paget's disease of breast
|
DCIS of nipple
itching, burning nipple erosion (can be mistaken for infection) associated with focus of invasive carcinoma |
|
bilateral breast cancer
|
more common in young women and lobular type
|
|
Rx of breast LCIS
|
↑risk invasive in both breasts therefore → close f/u or b/l mastectomy (in high risk)
|
|
Rx of breast DCIS
|
depends on size
small tumors - local excision + close f/u larger tumors - wide local excision + XRT or simple mastectomy (no node dissection necessary) |
|
Invasive breast cancer
|
ductal more common
staging - size, nodes, mets → bone scan, CBC, Ca, CXR Localized dz → lumpectomy + axillary node dissection + XRT or modified radical mastectomy chemo for all premenopausal ♀ with +ve nodes chemo in postmenopausal ♀ with +ve nodes and -ve hormone receptors |
|
Rx for breast cancer with +ve estrogen receptors
|
hormone therapy (tamoxifen)
mets/recurrence with chemo |
|
Rx option for herzneu amplification and metastatic dz
|
Herceptin
|
|
primary dysmenorrhea
|
no obvious organic cause
occurs (usually <20y/o) may be d/t ++ PGs, leukotrienes, or ψ factors |
|
Rx for primary dysmenorrhea
|
NSAIDs
OCP |
|
dysmenorrhea
|
marked pain with periods that requires medication and prevents normal activity
|
|
Secondary dysmenorrhea
|
associated with specific pelvic pathology:
endometriosis (most common) adenomyosis (=endometrial glands and stoma in myometrium) myomas pelvic congestion PID ovarian cysts cervical stenosis pelvic adhesions |
|
Endometriosis
|
endometrial glands and stroma outside the uterus
common sites: ovaries, cul de sac, uterosacral ligaments proposed etiologies endometrial cell implantation via retrograde menstruation vascular and lymphatic dissemination of endometrial cells metaplasia in peritoneal cavity typically in ♀ of reproductive age |
|
Risk factors of endometriosis
|
FHx
nulliparity infertility |
|
endometriosis S/S
|
premenstrual pain that resolves at onset of menses
dyschezia chronic pelvic pain dysparenuria abnormal bleeding infertility tender nodularity along uterosacral ligament fixed, retroverted uterus tender, fixed adnexal masses |
|
Evaluation of endometriosis
|
definitive dx by direct visualization laroscopy/laparotomy
rust-coloured to dark brown "powder burns" or raised blue "raspberry lesions" in severe dz implants surrounded by extensive adhesions ovarian endometriomas ("chocolate cysts" = cystic collections of thick, dark, old blood) pain severity ≠ extent of dz |
|
Rx of endometriosis
|
medical - OCP, progestin (to suppress ovulation/menses)
- danazol/GnRH agonists (to suppress estrogen production) Sx laporoscopic ablation TAH-BSO with lysis of adhesions for severe, recurrent dz |
|
Ectopic pregnancy locations and risk factors
|
locations
ampulla of oviduct 95% RF Hx of PID (most common) prior ectopic tubal/pelvic Sx DES exposure in utero IUD incidence ~1/100 |
|
Ectopic pregnancy S/S
|
classic triad
1. amenorrhea 2. light vaginal bleeding 3. lower abd/pelvic pain tender palpable pelvic/adnexal mass |
|
ruptured ectopic S/S
|
sudden, sharp abd pain with
- orthostatic hypotension - ↑HR - generalized abd & adnexal tenderness with rebound - shoulder pain - shock |
|
DDx of ectopic pregnancy
|
spontaneous abortion
ruptured corpus luteum cyst PID adnexal torsion appendicitis pyelo pancreatitis diverticulitis regional ileitis UC |
|
Evaluation of ectopic pregnancy
|
βhCG quantity(levels <expected) and doubling time (>expected)
serum progestrone <<< normal (<15ng/ml) - nonspecific U/S -transabdominal if βhCG ≥5000mIU/ml - transvaginal if ≥1500 ↑βhCG without intrauterine pregnancy on U/S highly suspicious definitive dx - lap or U/S visualization |
|
Rx of ectopic
|
follow closely with serial βhCG & U/S
- expectant for asymp with ↓ing βhCG, fallopian tube pregnancy, no U/S evidency of intra-abd bleeding & <3.5cm ectopic mass - MTX for early stable, unruptured ectopics - stabilize & Sx with salpingostomy/ectomy or salpingo-oophorectomy - Rhogam as appropriate |
|
Vaginitis S/S
|
increased vaginal d/c
vulvovaginal pruritis +/- vulvar edema/erythema |
|
Evaluation of vaginitis
|
vaginal pH with nitrazine paper
micro exam with wet prep & KOH gram stain chlamydia Ag tests r/o UTI with U/A, cultures |
|
Bacterial vaginosis frequency, S/S, Rx
|
relative frequency 50%
main symp = stale odour mild vulvar irritation homogenous, greyish-white d/c with fishy/stale odour vaginal pH >4.5 clue cells on saline smear +ve whiff test with KOH prep Rx - po metronidazole |
|
trichomonas vaginosis frequency, S/S, Rx
|
25% (may coexist with bact)
main symp = d/c strawberry petechiae in upper vagina/cervix profuse, malodourous, yellow-greenish frothy d/c pH >4.5 motile trichomonas on saline smear -ve KOH prep Rx po metronidazole treat partner (STD) check for other STDs |
|
Candidal vaginosis frequency, S/S, Rx
|
25%
main symp = pruritis erythematous, excoriated vulva/vagina thick, white, cottage-cheese d/c normal pH (3.5-4.5) -ve saline smear pseudohyphae on KOH prep Rx topical antifungals (miconazole) or po fluconazole |
|
Cervicitis S/S
|
N. gonorrhea, C. trachomatis
yellowish-green, mucopurulent d/c coinfection common - 50% pts with gono have chlamydia CMT in absence of other S/S of PID |
|
PID
|
includes endometritis, salpingitis, oophoritis, myometritis, peritonitis
ususally bacterial |
|
PID Risk factors
|
young age at 1st intercourse
multiple partners unprotected sex frequent intercourse mucopurulent cervicitis prior PID IUD use |
|
PID S/S
|
1-3d hx lower abd pain +/- fever, N/V
hx recent menses purulent cervical/vaginal d/c u or b/l lower abd, uterine, adnexal and CMT |
|
DDx PID
|
ectopic
endometriosis ovarian tumors hemorrhagic cysts adnexal torsion UTI/pyelo appendicitis/diverticulitis/ regional ileitis/UC |
|
Evaluation of PID
|
minimal dx criteria =
lower abd, adnexal & CMT supportive fever >38 ↑ESR, CRP WBC >10000 +ve cervical swab (gono/chl) pelvic abscess on U/S Definitive dx = lap with pus in peritoneal cavity |
|
Rx of PID
|
inpt IV abx = cefoxitin or cefotetan
+ doxycycline or clindamycin + gentamicin until asymp then doxycycline po x14d Outpt abx = ceftriaxone + doxy or ofloxacin + clinda or metro x14d Hospitalize for: pelvic/tubo-ovarian abscess peritonitis non-compliance N/V preventing po meds high fever/WBCs no improvement after 48-72h teenage/nulliparous |
|
Cx of PID
|
TOA - suspect with severe pain, high fever, N/V, adnexal mass
Ectopic pregnancy infertility Fitz-hugh-curtis syndrome (5-10% of PID) |
|
Toxic Shock syndrome S/S, Rx
|
pre-formed TSST-1 toxin sudden onset fever, diffuse sunburn-like rash, diarrhea, V, pharyngitis, h/a +/or myalgias
can rapidly progress to hypotensive shock desquamation palms/soles in 1-2wks menses/tampon use associated in 50% Rx - antistaph abx (nafcillin, oxacillin) +/-steroids |
|
vulvar cancer
|
4th most common gyne ca
after menopause (60s) squamous cell (90%) RF DM, obesity, HTN, vulvar dystrophies, HPV 16/18 vulvar pruritis (most common) erythematous/ulcerated vulvar lesion +/or mass Rx wide local excision + LN dissection +/- XRT |
|
Cervical ca
|
3rd most common gyne ca
RF - early intercourse, multiple partners, immunocompromised, tobacco, STDs, HPV 16/18/31 |
|
cervical ca S/S
|
meno +/or metrohhagia
post-coital bleeding pelvic pain vaginal d/c cervical d/c +/or ulceration pelvic mass fistulas |
|
Indications for colposcopy and endocervical curettage
|
dysplasia
squamous intraepithelial neoplasia 2 consecutive ASCUS |
|
Rx of cervical ca
|
CIN I = LSIL - most regress spontaneously - Pap + colposcopy q3m
CIN II/III = HSIL - cryosx, laser, or LEEP Cold knife conization - only for lesions that can't be fully visualized, discrepancy b/t high gr. cytology and bx, adenocarcinoma in situ, +ve ECC, or microinvasive SCC Invasive ca early - radical hysterectomy + LN dissection all stages - XRT, chemo |
|
uterine leiomyoma
|
most common benign gyne lesion
more common in blacks, >35y/o hormonally responsive increase size with pregnancy regress after menopause 0.1-0.5% transformation to leiomyosarcoma |
|
fibroids S/S
|
asymp
abnormal uterine bleeding anemia pelvic pressure dysmenorrhea urinary frequency pain infertility (uncommon) firm, nontender, irregularly inlarged "lumpy-bumpy" uterus |
|
Evaluation/Rx of fibroids
|
U/S to confirm dx
expectant hysterectomy/myomectomy medical - medroxyprogestrone danazol GnRH agonists (shrink tumors but growth resumes when meds stopped) can use in perimenopausal If grows after menopause CANNOT BE FIBROID |
|
endometrial ca RF
|
most common gyne ca
strongly associated with high levels unopposed estrogen - HRT chronic anovulation early menarche late menopause ovarian granulosa cell tumors obesity tamoxifen DM, HTN, nulliparity, FHx |
|
endometrial ca S/S
|
postmenopausal bleeding
menorrhagia metrorrhagia lower abd pain and cramping uterus fixed and immobile if spread to adnexa/peritoneum Signs of mets hepatosplenomegaly general lymphadenopathy abdominal masses |
|
evaluation and Rx of endometrial ca
|
Pap smear (not sensitive)
U/S to r/o fibroids, polyps, endometrial hyperplasia ECC and EMB - glandular cell hyper/anaplasia with invasion of stroma, myometrium or bvs Surgical staging +/- adjuvant XRT hormone Rx - high dose progestins for stage I Chemo (doxorubicin + cisplatin) for advanced/recurrent dz |
|
ovarian ca RF
|
leading cause gyne ca deaths
most common in post-menopausal and prepubescent RF FHx breast, ovarian ca chronic uninterrupted ovulation protective - OCPs |
|
Catagorization of ovarian ca
|
epithelial cell (most common)
- >20y/o germ cell eg dysgerminoma sex cord-stromal eg functional tumors |
|
ovarian ca S/S
|
asymp until late
abdominal pain bloating pelvic pressure urinary frequency early satiety constipation vaginal bleeding systemic symp palpable solid, fixed, nodular pelvic mass ascites pleural effusions |
|
Evaluation and Rx of ovarian ca
|
pelvic U/S +/- CT/MRI
CA-125, AFP, LDH, hCG used to monitor progression (not screening) Surgical staging includes: TAH-BSO, omentectomy, tumor debulking XRT for dysgerminomas Post-Sx chemo (carboplatin + paclitaxel)for epithelial cell (high recurrence, poor px) |
|
prevention of ovarian ca
|
strong fhx (≥2 1° relatives)
annual screening with CA-125 + transvaginal U/S consider prophylactic oophorectomy after childbearing OCPs may help decrease risk |
|
Causes of hirsuitism and virilization
|
PCOS
congenital adrenal hyperplasia cushing's syndrome sertoli-leydig cell ovarian tumors luteoma of pregnancy adrenal tumors |
|
PCOS
|
oligomenorrhea with S/S of increased circulating androgens
characterized by: b/l polycystic ovaries chronic anovulation infertility affects 15-30y/o |
|
PCOS S/S
|
obesity
amenorrhea hirsuitism infertility symptoms d/t excess LH and androgen overproduction associated with DM, insulin resistance increased risk endometrial ca |
|
Evaluation and Rx of PCOS
|
serum FSH:LH >3
↑serum androstenedione, DHEA U/s - enlarged ovaries with +++ large subcapsular cysts Rx wt loss infertility - clomiphene citrate or metformin OCPs for hirsuitism, amenorrhea, acne |
|
female infertility most common causes
|
endometriosis > PID
|
|
Threatened abortion
|
minimal bleeding
+/- abdominal pain no POC expelled closed os normal U/S Rx avoid heavy activity, pelvic and bedrest |
|
inevitable abortion
|
profuse bleeding
severe cramping open os Rx emergent D&C |
|
incomplete abortion
|
some POC expelled
open os retained fetal tissue on U/S Rx emergent D&C |
|
missed abortion
|
no uterine bleeding
no POC expelled closed os no FHR retained fetal tissue on U/S Rx evacuate uterus D&C |
|
complete abortion
|
minimal bleeding/cramping
all POC expelled closed os empty uterus on U/S |
|
septic abortion
|
fever/chills
peritoneal signs often hx recent TA (maternal mortality 10-50%) ↓BP, T oliguria resp distress if in shock ↑WBC Rx evacuate uterus D&C IV Abx |
|
intrauterine fetal demise
|
mother may report absence of fetal mvts
uterus SGA no FHR/mvts on U/S Rx induce labour and evacuate uterus to avoid D&C |
|
Stress incontinence S/S
|
small amts of urine loss with exertion/straining
no symp supine/asleep +/- cystocele/urethrocele |
|
stress incontinence mechanism
|
mech - change in urethrovesical angle causes intra-abd pressure increases to be transmitted to bladder>urethra
|
|
stress incontinence RF
|
pelvic relaxation
chronically increased intra-abd pressure weakened urethral closing mechanisms (eg estrogen deficiency, meds) |
|
stress incontinence dx and rx
|
dx
normal U/A, culture, cystometrogram demonstrable leakage w stress "+ve Q-tip test" (angle of cotton swab shows >30° change when pt strains) Rx kegels estrogen pessaries +/or Sx |
|
urge incontinence S/S
|
unpredictable large V urine loss
day and night urgency/frequency exam often normal |
|
urge incontinence mechanism
|
involuntary, uninhibited detrusor muscle contractions
|
|
urge incontinence risk factors
|
UTIs
bladder stones bladder ca neurologic dz DM |
|
Dx and Rx of urge incontinence
|
cystometrogram reveals involuntary bladder contractions associated with leakage, normal residual volume and sensation
Rx anticholingerics (oxybutynin) βadrenergics (metaproterenol) behaviour modification +/or sx denervation |
|
Down syndrome
|
most common chrom disorder and cause of congenital MR
MR flat facial profile prominent epicanthal folds simian crease duodenal atresia congenital hrt dz (most common septum-primum ASD d/t endocardial cusion defects) alzeiher's >35y/o ↑risk ALL |
|
Edward's syndrome
|
trisomy 18 (1/8000)
severe MR rocker-bottom feet low set ears micrognathia congenital hrt dz clenched hands prominent occiput death by 1y/o |
|
Patau's syndrome
|
trisomy 13 1/6000
severe MR microphthalmia microcephaly cleft lip/palate abnormal forebrain structures polydactyly congenital hrt dz death by 1y/o |
|
Klinefelter's syndrome
|
XXY 1/850
testicular atrophy eunuchoid body shape tall, long extremities gynecomastia female hair distribution one of most common causes of hypogonadism in males |
|
Turner's syndrome
|
XO 1/3000
short stature webbed neck ovarian dysgenesis coarctation of aorta most common cause primary amenorrhea |
|
Double Y males
|
XYY 1/1000
phenotypically normal very tall severe acne antisocial behaviour in 1-2% |
|
phenylketonuria
|
phenylalanine normally converted to tyrosine
in PKU tyrosine becomes essential ↓phenylalanine hydroxlase or tetrahydrobiopterin cofactor findings MR fair skin eczema musty body odour |
|
Fabry's disease
|
deficient α-galactosidase A → +++ ceramide trihexoside
findings renal failure X-linked recessive |
|
Krabbe's disease
|
AR
absent galactosylceramide β-galactosidase → +++ galactocerebroside findings optic atrophy spasticity early death |
|
Gaucher's disease
|
AR
↓β-glucocerebrosidase → glucocerebroside +++ in brain, liver, spleen, and bone marrow (gaucher cells with "crinkled paper" enlarged cytoplasm) Type I - most common normal life span |
|
Niemann-Pick disease
|
AR
↓sphingomyelinase → +++ sphingomyelin and cholesterol in reticuoloendothelial and parenchymal cells die by 3y/o |
|
Tay-Sachs
|
AR
absence of hexosaminidase A → +++ ganglioside death by 3y/o cherry-red spot on macula 1/30 Askanasi Jews (1/300 others) |
|
Metachromatic leukodystrophy
|
AR
↓ arylsuflatase A → +++ sulfatide in brain, kidney, liver, peripheral nerves |
|
Hurler's syndrome
|
AR
↓α-L-iduronidase → corneal clouding, MR |
|
Hunter's syndrome
|
X-linked recessive
↓iduronate sulfatase mild form of Hurler's with no corneal clouding and mild MR |
|
X-linked lysosomal storage diseases (2)
|
Fabry's
Hunter's |
|
AR lysosomal storage diseases (6)
|
Niemann-Picks
Krabbe's Gaucher's Hurler's Tay-Sachs metachromic leukodystrophy |
|
Fragile X syndrome
|
X linked recessive
affects methylation and expression of FMR1 gene 2nd most common cause genetic MR CGG repeats macro-orchidism long face with large jaw large everted ears autism |
|
Left to right shunts
|
"3d's"
ASD VSD PDA |
|
Congenital heart disease classification and intrauterine risk factors
|
presence or absence of cyanosis
RF maternal EtOH, drugs exogenous hormones (OCPs) lithium congenital infection |
|
ASD S/S
|
presents late childhood/early adulthood
large defects can → CHF → cyanosis easy fatiguability frequent resp infections FTT RV heave wide and fixed S2 SEM at ULSB (from ↑flow across pulmonary valve) |
|
ASD evaluation
|
Echo with colour flow doppler (dx)
flow b/t atria paradoxic ventricular wall motion dilated RV ECG - R axis deviation CXR - cardiomegaly, increased pulm. vascular markings |
|
ASD Rx
|
small defects - Ø
Abx prophylaxis before dental procedures for ostium primum defects Sx closure in infants with CHF, >2:1 pulm:systemic blood flow ratio Early correction prevnts Cx - arrhythmias, RV dysfunction, Eisenmenger's syndrome |
|
Eisenmenger's syndrome
|
L→R shunt → pulmonary vascular hyperplasia, irreversible PHTN and shunt reversal
|
|
VSD S/S
|
most common comgenital heart defect
frequent resp infections FTT CHF pansystolic murmur at LLSB loud pulmonic S2 Severe defects - systolic thrill, cardiomegaly, crackles |
|
VSD evaluation and Rx
|
echo dx
ECG - L/RVH Rx CHF with diuretics, ionotropes small usually Ø large - early Sx to prevent Cx - Eisenmenger's syndrome endocarditis and septic emboli prophylaxis (amoxicillin) before dental/pulmonary procedures |
|
PDA risk factors and S/S
|
RF
high altitude maternal T1 rubella more common in premature & ♀ S/S slowed growth recurrent LRTIs L/E clubbing symp of CHF wide pulse pressure continuous "machinery M" at 2nd LICS loud S2 bounding peripheral pulses |
|
Evaluation and Rx of PDA
|
colour flow doppler showing blood flow from aorta to PA = Dx
echo - LA, LV enlargement ECG +/- LVH CXR +/- cardiomegaly Rx indomethacin unless needed for survival if fails or if >6-8m old - Sx closure |
|
Coarctation of aorta RF and S/S
|
♂>♀
Turner's syndrome is RF 25% have bicuspid AV S/S asymp HTN in childhood SOBOE syncope claudication epistaxis h/a SBP > in U/E, R arm femoral pulses weak/delayed late systolic M in L axilla forceful apical impulse L/E wasting if advanced |
|
Evaluation of coarctation of aorta
|
cardiac cath = Dx
ECG - LVH echo + colour flow doppler CXR - "reverse 3 sign" (d/t pre and post-dilatation of coarct segment) - "rib notching" (d/t collateral circulation thru intercostal a's |
|
Rx of coarctation
|
Sx correction or balloon angioplasty
continue abx prophylaxis after Rx |
|
Right to Left shunts
|
"5T's"
Tetrology Transposition Truncus arteriosis Tricuspid atresia Total anomalous pulmonary venous return |
|
Transposition of the Great Vessels
|
pulm and syst circulation are in parallel
- aorta connected to RV - PA connected to LV incompatible with life unless PDA or septal defect RF Apert's syndrome Down's Cri-du-chat trisomies 13, 18 |
|
Transposition of GV S/S
|
critical illness and cyanosis typically immediately after birth
tachpnea progressive resp failure |
|
Evaluation and Rx of Transposition of GV
|
eval
Echo CXR - "egg-shaped silhouette" (narrow heart base and absence of main PA segment) Rx keep PDA open with PGE1 Ballon atrial septostomy Sx - arterial or atrial switch |
|
Tetrology of Fallot
|
"PROVe"
Pulmonary stenosis (=RV outflow obstruction) RVH Overriding aorta VSD |
|
Tetrology of Fallot S/S
|
most common cyanotic hrt dz of childhood (transposition is most common of infancy)
early cyanosis from R-to-L shunting cyanosis, dyspnea, fatiguability squat for relief during hypoxic episodes (=tet spells) hypoxemia - FTT, MS changes SEM at LSB (d/t RV outflow obstruction) RV lift single S2 +/- signs of CHF |
|
RF and Evaluation of tetrology of fallot
|
Down's
cri-du-chat trisomies 13, 18 Eval echo and cath CXR - "boot-shaped heart" with ↓pulm vascular markings ECG - RAD, RVH |
|
Tetrology of Fallot Rx
|
PGE1 to maintain PDA
cyanotic spells - O2, propranolol, knee-chest position, fluids, morphine temporary palliation with artificial shunt (balloon atrial septostomy) before Sx |
|
HBV vaccination
|
birth, 2m, 6m
|
|
DTaP vaccination
|
2,4,6, 15-18m, 4-6yrs
|
|
Hib vaccination
|
2,4,6,12-15m
|
|
IPV vaccination
|
2,4,6m,4-6yrs
|
|
PPV vaccination
|
2,4,6,12-15m
|
|
MMR vaccination
|
12-15m, 4-6yrs
|
|
varicella vaccination
|
12-15m
|
|
HAV vaccination
|
2yrs in certain regions and high risk groups
|
|
influenza vaccination
|
>6m with asthma, CF, DM, HIV, BPD, SCA, chronic heart dz
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Contraindications and precautions for vaccinations
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current mod-severe illness
severe allergy to vaccine component or prior dose encephalopathy within 7d of prior pertussis vaccination recent admin of Ab-containing blood products for live injected vaccines Live vaccines in immunocompromised and pregnancy (Exception HIV without immune compromise can have MMR and varicella) Precautions progressive neuro disorders prior rxn to pertussis Not contraindications mild illness +/or low gr fever current abx prematurity |
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Milestones at 2m
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GM - lifts head/chest prone
FM - tracks past midline L - alert to sounds, coos Social/Cog - recognizes parent, social smile |
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milestones at 4-5m
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GM - rolls f-to-b(4m), b-to-f(5m)
FM - grasps rattle L orients to voice, ah-goo S/C - enjoys looking around, laughs |
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milestones at 6m
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GM - sits unassisted
FM - transfers objects, raking grasp L - babbles S/C - stranger anxiety |
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milestones at 9-10m
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GM - crawls, pulls to stand
FM - 3-finger pincer grasp L - mama/dada (non-specific) S/C - waves bye-bye, pat-a-cake |
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milestones at 12m
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GM - cruises (11m), walks alone
FM - 2finger pincer grasp L - mama/dada (specific) S/C - imitates actions |
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milestones at 15m
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GM - walks bwds
FM - uses cup L - 4-6 words S/C - temper tantrums |
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milestones at 18m
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GM - runs, kicks ball
FM - builds tower 2-4 blocks L - names common objects S/C - copies parent in tasks |
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milestones at 2yrs
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GM - walks up/down steps with help, jumps
FM - builds tower of 6 blocks L - 2 word phrases S/C - follows 2-step commands, removes clothes |
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milestones at 3yrs
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GM - rides tricycle, climbs stairs alternating (3-4yrs)
FM - copies circle, uses utensils L - 3 word sentences S/C - brushes teeth with help, washes/dries hands |
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milestones at 4yrs
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GM - hops
FM - copies cross L - counts to 10 S/C - cooperative play |
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Intussusception
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one portion of bowel telescopes into adjacent segment usually prox to ileocecal valve
most common cause of bowel obstruction <2yrs |
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Intussusception Risk factors
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Meckel's
intestinal lymphoma (>6y/o) HSP parasites polyps adenovirus rotavirus celiac disease CF |
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Intussusception S/S
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abrupt onset colicky abd pain
drawing up of legs and V young infants - pallor and sweating palpable "sausage-shaped" RUQ mass advanced signs - "red, currant jelly stools" lethargy, fever |
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Intussusception eval and Rx
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AXR, U/S
air contrast barium enema - dx, often curative Sx reduction/resection if necessary |
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Pyloric stenosis
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hypertrophy of pyloric sphincter
first born males 1/500 births |
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pyloric stenosis S/S
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nonbilious emesis progresses to projectile emesis after every feeding from 2wks - 4m old
palpable olive-shaped, mobile, nontender epigastic mass visible peristaltic waves |
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Pyloric stenosis DDx
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DDx - duodenal atresia ("double-bubble on Xray)
malrotation volvulus meconium ileus GERD gastroenteritis pylorospasm overfeeding |
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Pyloric stenosis eval and Rx
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Abd U/S - hypertrophic pylorus - dx
barium studies - "string sign" (narrow pyloric channel) or pyloric beak Rx acid/base/volume first then Sx - pyloromyotomy |
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B-cell deficiencies
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most common immunodeficiencies (50%)
present after 6m with recurrent sinopulmonary, GI and GU infections with encapsulated organisms (H. flu, S. pneumo, N. menigitides) |
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T-cell deficiencies
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present earlier than B (1-3m old)
opportunistic and low grade fungal, viral, and intracellular bacterial infections +/- secondary B-cell deficiencies |
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phagocyte deficiencies
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characterized by mucous membrane infections, abscesses, and poor wound healing
catalase +ve (staph aureus) and GN enterics common Delayed umbilical cord separation may be early sign |
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Complement deficiencies
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characterized by recurrent bacterial infections with encapsulated organisms
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Congenital immunodeficiencies
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present with:
chronic/recurrent infections unusual or opportunistic organisms incomplete Rx response FTT |
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Kawasaki disease
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"CRASH and burn"
Conjunctivitis Rash Adenopathy Strawberry tongue Hands and feet (red, swollen, flaky skin) AND burn = fever >40°C for ≥5d |
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Kawasaki disease
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multisystem acute vasculitis affecting young kids (80% <5y/o) esp. Asian
Acute phase: Dx = fever + ≥4 of: fever >40°C for ≥5d b/l nonexudative painless conjunctivitis polymorphous rash (primarily truncal) cervical lymphadenopathy (often u/l, ≥1 LN ≥1.5cm) Diffuse mucous membrane erythema (strawberry tongue) erythema of palms/soles indurative edema of hands and feet, desquamation of fingertips (late) Subacute phase: thrombocytosis ↑ESR |
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Rx of Kawasaki's
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Acute phase
- high dose ASA - IVIG (to prevent aneurysms) Untreated pts at risk for coronary artery aneurysms during convalescene NO steroids - ↑risk aneurysm formation |
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B cell deficiencies include...?
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X-linked (Bruton's) agammaglobulinemia
common variable immunodeficiency IgA deficiency (most common of all immunodeficiencies) |
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X-linked (Bruton's) immunodeficiency
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profound B-cell deficiency in Boys only
can present <6m old at risk for life-threatening Pseudomonas infections Dx - quantitative Ig levels and specific Ab responses Rx - prophylactic abx, IVIG |
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Common variable immunodeficiency
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Ig levels drop in 2nd-3rd decade of life
↑risk lymphoma, autoimmune dz |
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IgA deficiency
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most common
usually asyp recurrent infections |
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T-cell deficiencies include...?
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Thymic aplasia (DiGeorge)
Ataxia-telangectasia |
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DiGeorge syndrome
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"CATCH-22"
Congenital heart disease Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q deletion Presents with tetany in 1st days of life Dx - absolute lymphocyte count - mitogen stim response - delayed hypersensitivity skin testing Rx thymus or BMT IVIG for Ab deficiency |
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Ataxia-telangectasia
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DNA repair defect
Oculocutaneous telangectasias and progressive CB ataxia Rx BMT IVIG for Ab deficiency No Rx to limit progression |
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Combined immunodeficiencies includes...?
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SCID
Wiskott-Aldrich syndrome |
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SCID
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severe lack of B and T cells
frequent, severe bacterial infections chronic candidiasis opportunistic organisms Rx BMT or stem cell transplant IVIG for Ab deficiency PCP prophylaxis until BMT |
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Wiskott-Aldrich syndrome
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X-linked
less severe B & T cell dysfunction eczema ↑IgE, IgA ↓IgM TCP Rx supportive IVIG and aggressive abx for infection rarely survive to adulthood |
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Phagocytic immunodeficiencies include...?
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CGD
Chediak-Higashi syndrome |
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CGD
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Xlinked or autosomal recessive
deficient superoxide production by PMNs, macrophages Chronic pulm, GI, GU infections osteomyelitis hepatitis +/- anemia, lymphadenopathy, hypergammaglobulinemia Dx Nitroblue tetrazolium test=Dx absolute neutrophil count adehsion, chemotaxic, phagocytic, bactericidal assays Rx TMP-SMX qd γ-interferon reduces incidence of serious infections |
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Chediak-Higashi syndrome
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AR
defect in neutrophil chemotaxis Oculocutaneous albinism neuropathy neutropenia Dx absolute neutrophil count adhesion, chemotactic, phagocytic, and bactericidal assays Rx TMP-SMX qd |
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Complement deficiencies includes...?
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C1 esterase deficiency (hereditary angioneurotic edema)
Terminal complement deficiency (C5-9) |
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C1 esterase deficiency
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= hereditary angioneurotic edema
AD recurrent episodes of angioedema lasting 2-72hrs - provoked by trauma/stress can result in life-threatening a/w edema Dx total hemolytic complement (CH50) Rx danazol qd purified C1 esterase and FFP prior to Sx |
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Terminal complement deficiency
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susceptible to recurrent meningococcal & gonococcal infections
SLE, glomerulonephritis (rare) Dx total hemolytic complement (CH50) Rx menigococcal vaccine Abx |