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30 Cards in this Set
- Front
- Back
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Osteogenesis imperfecta is a disorder of what?
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collagen syntheis
increased # of fractures, blue thin sclera |
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What is the defect in achondroplasia?
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defective cartilage synthesis - decreased epiphysis formation
autosomal dominant produces short limbs with normal sized head and trunk |
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What happens to bone in osteoporosis?
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thinned cortical bone, enlarged medullary cavity
Causes: estrogen deficiency, physical inactivity, hypercortisolism, hyperthyroidism, subclinical calcium deficiency |
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How much calcium is used in treatment of osteoporosis? other treatments?
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1000-1500 mg/day
calcitonin - tone Ca into bone bisphosphonates (DOC) won't build up, but prevents break down |
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What are the etiologies of osteomalacia (inadequate bone mineralization)?
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Vit D deficiency - decreased Ca/phosphate absorption
severe liver disease - unable to do 2nd step to make active Vit D anticonvulsant drugs - alter livers ability to make active Vit D renal osteodystrophy - severe kidney dx/chronic renal failure - unable to convert 25 Vit D to 1,25 Vit D (active) Fanconi's syndrome - affects renal tubules - loss of Ca and phosphate Malnutrition/malabsorption - limits Ca/phosphate/Vit D |
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What is the problem in Paget's Disease?
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increased, uncontrolled bone turnover, with bone formation outpacing bone resorption - results in disorganized bone
frontal bossing, deafness, bony pain, pain secondry to compression of SC and CN roots, vertebral compression fractures, chalkstick fractures of lower extremities, high output cardiac failure (due to increased capillaries) extremely high alk phos |
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What is the most common benign tumor of cartilage?
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osteochondroma
tumor containing both bone and cartilage - near the end of a long bone develops osteocartilagenous exostoses (spurs) at metaphyses |
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What are the different benign bone tumors?
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osteoma - multiple, painless - skull and facial bones
osteoid osteoma - small, painful - extremities osteoblastoma - larger, milder pain (achy, dull) - primarily in spine |
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What is commonly seen in Ewings Sarcoma?
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periosteal reaction that produces layer upon layer of reactive bone: "onion skinning"
tumor arises in medullary cavity and invades the cortex and periosteum, producing a soft tissue mass (+) Homer-Wright rosettes usually occurs in the diaphyses of long bones - femur and pelvis) PAINFUL - tender, swollen, fever, anemia, leukocytosis |
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What is the difference between Duchenne and Beckers muscular dystrophy?
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DMD - LACK dystrophin - skeletal muscle atrophies and dies - pectoral muscle weakness occurs first. later pelvic girdle. (+) Gower's sign, hypertrophied calves - death in the 20s by pneumo (usually)
BMD - not as severe early - outcome is delayed. DECREASED dystrophin |
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What are the two different astrocytomas?
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fibrillary astrocytoms - 80% of all adult brain tumors. Usually in cerebral hemispheres - comprised of neoplastic astrocytes.
Pilocytic - children and young adults. Cerebellum. Cystic with cells that have a long thin hair-like processes. Rarely infiltrates neighboring tissues, grows slowly |
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What are the 3 different types of fibrillary astrocytomas?
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1) low grade: remain static or progress very slowly - rapid deterioration period
2) anaplastic - more aggressive 3) Glioblastoma multiforme - most common - extremely high grade; highly anaplastic (malignant) with increased nuclear density line up along the edges of necrotic regions (pseudopalisading). Usually occurs in both cerebral hemispheres (crosses callosum) forming a butterfly shape. 8-10 months - always fatal |
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What is the difference between Schannomas and Neruofibromas?
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S - circumscribed and encapsulated - most nerve stays intact
N - unecapsulated and infiltrates nerves (can't be surgically removed) |
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Where does Craniopharyngiomas arise?
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derived from vestigial remnants of Rathke's pouch
slow growing - encroaches on hypothalamus, ventricles, optic chiasm childhood or adolescence is when symptoms arise mixture of squamos epithelial cells and connective tissue most common supratentorial tumor of children |
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What is the difference between microadenomas and macroadenomas?
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micro - <10 mm
macro - >10 mm - commonly presents with visual defects - puts pressure on optic chiasm |
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What is seen in a prolactinoma?
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most common functional pituitary tumor
produces prolactin most are macroadenomas may result in amenorrhea, glactorrhea, loss of libido, infertility, visual disturbances |
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What is seen in a corticotroph tumor?
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microadenoma (no visual problems)
produces excess ACTH, causes adrenal hypersecretion of cortisol Causes Cushing's disease |
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What happens to the brain in Alzheimers?
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cortical atrophy - brain looks shunken.
small with widening of cerebral sulci and with enlarged ventricles due to atrophy of tissue |
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What is the critical molecule to the development of all cases of Alzheimers?
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amyloid beta protein - forms beta-pleated sheets
binds congo red stain resistant to degradation stims protectant cells in brain causes inflammatory and oxidative damage - death of neurons product of processed APP - on chromosome 21 |
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What is seen in Parkinson's Disease?
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loss of substanttia nigra resulting in decrease dopamine - resulting in a loss of locus ceruleus
slowly progressive bradykinesia muscle rigidity resting tremor postural instabilitygait abnormalities hallucinations 1st - loss of or diminished sense of smell |
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What is degenerated in ALS?
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degeneration of upper (corticospinal - brain, sc) and lower (anterior horn - branches off sc) motor neurons
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What are the lower motor neuron signs? upper?
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lower (ant horn) - symmetrical muscle atrophy and weakness, fasciculations, hyporeflexia (decrease DTR)
upper (corticospinal) - hyperreflxia, spasticity, Babinski (up and out), loss of fine motor dexteritiy |
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What is Huntington's Disease
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Autosomal dominant - progressive degeneration and atrophy of the caudate nucleus, putamen, and frontal cortex
affects cholinergic and GABA-ergic nuerons, primarily medium spiny striatal neurons (modulating motor output from basal ganglia) whole-body choreoathetosis, then hypertonicity, fecal and urinary incontinence, anorexia, weight loss, depression, dementia, death |
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How can chronic alcoholism lead to dementia?
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causes thiamin deficiency, which can lead to dementia (including Korsakoff's)
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what is the most common demyelinating disease?
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Multiple sclerosis
autoimmune demyelinating disorder - associated with HLA-DR2 any part of the CNS |
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What is seen with MS?
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(+) plaques in white matter - especially around ventricles and optic nerve - but can be anywhere
(+) oligoclonal bands - increased CSF IG identified on electrophoresis fatigue, diplopia, visual loss, vertigo, weakness of muscles, peresis, retrobulbar pain, sensory disturbances, detrusor hyperreflexia, babinski, increased DTR, Lhermitte's sign triad - nystagmus, intention tremor, scanning speech |
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What is different in Guillain-Barre?
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ascending demyelination of the PNS
follows a viral infection (influenza) OR immunization OR campylobacter gastroenteritis |
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What is deficient in metachromatic leukodystrophy?
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deficient in arylsulfatase A - leads to accumulation of sulfatides - demyelination of CNS and PNS
autosomal recessive - sphingolipidosis |
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What causes Subacute Combined Degeneration (SCD)?
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vitamin B12 deficiency
features demyelination and eventual destruction of spincal cord posterior columns, and later destruction of the corticospinal tract (both ascending and descending tracts - combined) distal parasthesias, then weak, unsteady gait megaloblastic anemia - spastic weakness of legs, paraplegia late |
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How do Wernicke's syndrome and Korsakoff's encephalopathy relate?
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W - due to acute sever B1(thiamine) deficiency. Focal hemorrhage and necrosis of mammillary bodies. Causes ophthalmoplegia, confusion, and ataxia. Reversible with B1 administration
K - not reversible - follows some cases of Wernicke's. Results from macrophage accumulation at hemorrhage sites that were created in Wernicke's and subsequent development of open cysts in brain lined with mehosiderin-laden macrophages. Severe psychosis or dementia that usually does not respond adequately to treatment |
